BRCA2 — 18131 ClinVar variants

All ClinVar germline BRCA2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 6055 flagged for review →

3283 Pathogenic · 288 Pathogenic/Likely pathogenic · 296 Likely pathogenic · 5512 Conflicting · 776 Benign · 103 Benign/Likely benign · 3795 Likely benign · 4078 Uncertain significance

Full BRCA2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 6055

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 14

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

BRCA2 p.Arg2336His Pathogenic Expert panel
breast-ovarian cancer, familial, susceptibility to, 2
BRCA2 p.Ile2675Val Pathogenic Expert panel
BRCA2-related cancer predisposition
BRCA2 p.Arg2336Leu Pathogenic/Likely pathogenic Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Arg2336Pro Pathogenic/Likely pathogenic Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Asp23Tyr Pathogenic/Likely pathogenic Multiple submitters
breast-ovarian cancer, familial, susceptibility to, 2
BRCA2 p.Gln2829Arg Pathogenic/Likely pathogenic Multiple submitters
BRCA2-related cancer predisposition
BRCA2 p.Glu2878Lys Pathogenic/Likely pathogenic Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Gly173Arg Pathogenic/Likely pathogenic Multiple submitters
Inherited breast cancer and ovarian cancer
BRCA2 p.Tyr2601Cys Likely pathogenic Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Val159Met Pathogenic/Likely pathogenic Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Val211Ile Pathogenic Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Val211Leu Pathogenic/Likely pathogenic Multiple submitters
BRCA2-related cancer predisposition
BRCA2 p.Lys172Asn Likely pathogenic Single submitter
hereditary neoplastic syndrome
BRCA2 p.Gly1696Val Pathogenic No assertion criteria
hereditary breast ovarian cancer syndrome

Predictors agree, ClinVar conflicts 3529

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification. · showing the 150 best-reviewed of 3529

BRCA2 p.Ala1043Gly Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala1043Ser Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA2 p.Ala1043Val Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala1052Pro Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA2 p.Ala1052Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala1052Val Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA2 p.Ala1070Ser Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala1070Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala1070Val Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala1162Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala1162Val Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala1170Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala1170Val Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala1193Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala1193Val Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala1204Ser Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA2 p.Ala1204Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala1204Val Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA2 p.Ala1222Pro Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala1253Ser Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala1253Val Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala127Ser Conflicting Single submitter
BRCA2-related cancer predisposition
BRCA2 p.Ala1327Ser Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala1393Gly Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala1393Val Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala1395Ser Conflicting Single submitter
BRCA2-related cancer predisposition
BRCA2 p.Ala1395Val Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala1398Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala1398Val Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala1411Gly Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala1411Ser Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala1439Ser Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA2 p.Ala1439Thr Conflicting Single submitter
BRCA2-related cancer predisposition
BRCA2 p.Ala1527Asp Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala1527Pro Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala1535Ser Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala1535Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala1564Gly Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala1564Ser Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala1572Asp Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala1572Gly Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA2 p.Ala1572Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala1572Val Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala1579Pro Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala1579Thr Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA2 p.Ala1579Val Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA2 p.Ala1587Thr Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA2 p.Ala1587Val Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA2 p.Ala1588Val Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala1648Glu Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala1648Thr Conflicting Single submitter
Breast and/or ovarian cancer
BRCA2 p.Ala1648Val Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala1652Pro Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA2 p.Ala1652Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala1725Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala1725Val Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala1797Gly Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala1799Ser Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala1799Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala1799Val Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala1825Gly Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA2 p.Ala1825Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala1826Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala1891Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala1891Val Conflicting Single submitter
Fanconi anemia complementation group D1
BRCA2 p.Ala1922Ser Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA2 p.Ala1972Val Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA2 p.Ala1981Pro Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala1991Ser Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala1991Thr Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA2 p.Ala2032Pro Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala2032Ser Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA2 p.Ala2032Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala2032Val Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA2 p.Ala2061Glu Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala2061Pro Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala2233Pro Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala227Val Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala2351Ser Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA2 p.Ala2465Val Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA2 p.Ala2467Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala248Thr Conflicting Single submitter
Breast and/or ovarian cancer
BRCA2 p.Ala2632Val Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA2 p.Ala2698Thr Conflicting Single submitter
Inherited breast cancer and ovarian cancer
BRCA2 p.Ala2711Ser Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA2 p.Ala2770Asp Conflicting Single submitter
BRCA2-related cancer predisposition
BRCA2 p.Ala2825Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala2852Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala2857Ser Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala2857Val Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala2864Gly Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala2889Ser Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA2 p.Ala2897Ser Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala2911Gly Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA2 p.Ala2911Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala2911Val Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA2 p.Ala2912Pro Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala2912Val Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala2915Thr Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA2 p.Ala2915Val Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala2928Asp Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA2 p.Ala2928Ser Conflicting Single submitter
BRCA2-related cancer predisposition
BRCA2 p.Ala2942Asp Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala2942Thr Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA2 p.Ala2942Val Conflicting Single submitter
hereditary breast carcinoma
BRCA2 p.Ala3012Gly Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA2 p.Ala3029Thr Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA2 p.Ala3205Pro Conflicting Single submitter
BRCA2-related cancer predisposition
BRCA2 p.Ala3205Val Conflicting Single submitter
BRCA2-related cancer predisposition
BRCA2 p.Ala3340Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala336Glu Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA2 p.Ala3372Thr Conflicting Single submitter
breast-ovarian cancer, familial, susceptibility to, 2
BRCA2 p.Ala3372Val Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala338Pro Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala338Ser Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala3399Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala39Val Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA2 p.Ala406Gly Conflicting Single submitter
Wilms tumor 1
BRCA2 p.Ala483Pro Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA2 p.Ala483Thr Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA2 p.Ala487Glu Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala495Pro Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA2 p.Ala495Thr Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA2 p.Ala518Gly Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala518Pro Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA2 p.Ala535Gly Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala535Val Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala565Val Conflicting Single submitter
BRCA2-related disorder
BRCA2 p.Ala573Gly Conflicting Single submitter
BRCA2-related cancer predisposition
BRCA2 p.Ala573Val Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala577Pro Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala577Thr Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA2 p.Ala577Val Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala593Ser Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala593Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala618Ser Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala618Val Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala622Glu Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala622Gly Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala622Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala624Gly Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala624Val Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala627Gly Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala627Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala627Val Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala632Gly Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala632Val Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA2 p.Ala691Glu Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala691Thr Conflicting Single submitter
BRCA2-related cancer predisposition
BRCA2 p.Ala691Val Conflicting Single submitter
hereditary neoplastic syndrome

Predicted LoF vs a conflicting call 32

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

BRCA2 c.425+2T>C Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 c.632-1G>T Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 c.632-2A>C Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA2 c.68-2A>G Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 c.681+2dup Conflicting Single submitter
BRCA2-related cancer predisposition
BRCA2 c.7007+2T>C Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 c.9648+1G>A Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 c.9648+1G>C Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 c.-40+2T>C Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Arg2295fs Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Arg3384Ter Conflicting Single submitter
BRCA2-related cancer predisposition
BRCA2 p.Asn3329fs Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA2 p.Cys3404_Glu3405delinsTer Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA2 p.Gln3350Ter Conflicting Single submitter
BRCA2-related disorder
BRCA2 p.Gln3398Ter Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA2 p.Gln3409Ter Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA2 p.Glu3342Ter Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Glu3393fs Conflicting Single submitter
BRCA2-related cancer predisposition
BRCA2 p.Glu3395fs Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA2 p.Ile3286fs Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Leu2289Ter Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Leu3333fs Conflicting Single submitter
Breast and/or ovarian cancer
BRCA2 p.Leu3382fs Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Lys2308Ter Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA2 p.Lys3408Ter Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA2 p.Ser2309fs Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ser3338Ter Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA2 p.Ser3364fs Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA2 p.Ser3366Ter Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ser3376Ter Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ser3400fs Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Thr3388fs Conflicting Single submitter
hereditary breast carcinoma

Predictors lean, ClinVar uncertain 2005

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 2005

BRCA2 p.Asn3124Lys Uncertain significance Expert panel
BRCA2-related cancer predisposition
BRCA2 p.Asp23Asn Uncertain significance Expert panel
BRCA2-related cancer predisposition
BRCA2 p.Gly106Arg Uncertain significance Expert panel
BRCA2-related cancer predisposition
BRCA2 p.Gly2748Ser Uncertain significance Expert panel
BRCA2-related cancer predisposition
BRCA2 p.Leu2654Pro Uncertain significance Expert panel
BRCA2-related cancer predisposition
BRCA2 p.Lys2657Thr Uncertain significance Expert panel
BRCA2-related cancer predisposition
BRCA2 p.Phe2562Val Uncertain significance Expert panel
BRCA2-related cancer predisposition
BRCA2 p.Tyr2624Cys Uncertain significance Expert panel
BRCA2-related cancer predisposition
BRCA2 p.Val2687Phe Uncertain significance Expert panel
BRCA2-related cancer predisposition
BRCA2 p.Ala1588Ser Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Ala186Thr Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Ala1991Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Ala216Val Uncertain significance Multiple submitters
breast-ovarian cancer, familial, susceptibility to, 2
BRCA2 p.Ala227Pro Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Ala227Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Ala2351Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Ala2376Thr Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Ala248Val Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Ala2557Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Ala2557Val Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Ala261Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Ala2632Glu Uncertain significance Multiple submitters
hereditary breast carcinoma
BRCA2 p.Ala2786Pro Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Ala2825Val Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Ala2857Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Ala2864Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Ala2897Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Ala3140Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Ala3205Thr Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Ala3235Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Ala3246Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Ala3297Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Ala3345Gly Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Ala3345Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Ala3345Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Ala3372Gly Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Ala902Asp Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Arg107Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Arg113Ser Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Arg118Ser Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Arg155Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Arg174Cys Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Arg174Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Arg18Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Arg2087Gly Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Arg212Lys Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Arg2287Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Arg2424Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Arg2424Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Arg2432Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Arg245Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Arg2494Leu Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Arg259Lys Uncertain significance Multiple submitters
BRCA2-related cancer predisposition
BRCA2 p.Arg2625Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Arg2659Ile Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Arg2824Gly Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Arg2824Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Arg2842Ser Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Arg2927Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Arg2991Pro Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Arg3237Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Arg3237Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Arg3269Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Arg3269Ile Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Arg3269Lys Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Arg3269Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Arg3276Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Arg3276Ser Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Arg3381Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Arg3381Ser Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Arg3381Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Arg3384Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Arg67Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Arg67Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Arg8Gly Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Asn108Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Asn108Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Asn1198Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Asn1330His Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Asn1459His Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Asn1718Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Asn1778Ser Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Asn1784Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Asn228Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Asn2346Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Asn2348His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Asn235Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Asn235Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Asn2390Asp Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Asn2425Asp Uncertain significance Multiple submitters
BRCA2-related cancer predisposition
BRCA2 p.Asn2436His Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Asn2447Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Asn2458His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Asn2460Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Asn2461Lys Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Asn2463Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Asn2486Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Asn257Thr Uncertain significance Multiple submitters
BRCA2-related cancer predisposition
BRCA2 p.Asn2706Asp Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Asn2814His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Asn2843Ser Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Asn30Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Asn30His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Asn30Ser Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Asn3187Ser Uncertain significance Multiple submitters
hereditary breast carcinoma
BRCA2 p.Asn3221Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Asn3318Ser Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Asn3329His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Asn3329Ile Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Asn3337Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Asn3407Ile Uncertain significance Multiple submitters
BRCA2-related cancer predisposition
BRCA2 p.Asn433Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Asn43Ser Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Asn517Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Asn560Ser Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Asn719Ser Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Asn72Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Asn72Ile Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Asn72Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Asn72Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Asn886His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Asn896Ser Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Asp125Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Asp1280Gly Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Asp128Val Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Asp129Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Asp1337Gly Uncertain significance Multiple submitters
hereditary breast carcinoma
BRCA2 p.Asp1340Gly Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Asp1425Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Asp156Ala Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Asp156Val Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Asp1575Ala Uncertain significance Multiple submitters
BRCA2-related cancer predisposition
BRCA2 p.Asp191Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Asp191His Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Asp2110Asn Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Asp224Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Asp224Asn Uncertain significance Multiple submitters
familial pancreatic carcinoma
BRCA2 p.Asp224Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Asp237Gly Uncertain significance Multiple submitters
BRCA2-related cancer predisposition
BRCA2 p.Asp237Val Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Asp23Gly Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Asp2438Asn Uncertain significance Multiple submitters
hereditary breast carcinoma
BRCA2 p.Asp244Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Asp244Tyr Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Asp2451His Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Asp252His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Asp2583His Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Asp2606Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Asp2679Asn Uncertain significance Multiple submitters
BRCA2-related cancer predisposition
BRCA2 p.Asp2679Tyr Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome

Predictors split 475

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 475

BRCA2 p.Ala2770Thr Benign Expert panel
breast-ovarian cancer, familial, susceptibility to, 2
BRCA2 p.Arg2318Gln Benign Expert panel
breast-ovarian cancer, familial, susceptibility to, 2
BRCA2 p.Arg2842His Benign Expert panel
breast-ovarian cancer, familial, susceptibility to, 2
BRCA2 p.Asp2312Val Benign Expert panel
breast-ovarian cancer, familial, susceptibility to, 2
BRCA2 p.Leu2587Phe Benign Expert panel
BRCA2-related cancer predisposition
BRCA2 p.Pro168Thr Benign Expert panel
breast-ovarian cancer, familial, susceptibility to, 2
BRCA2 p.Ala186Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Ala199Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Ala199Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Ala199Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Ala2683Val Uncertain significance Multiple submitters
breast-ovarian cancer, familial, susceptibility to, 2
BRCA2 p.Ala2764Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Ala3122Gly Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Ala3297Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Arg155Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Arg2318Gly Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Arg2520Gly Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Arg2602Gly Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Arg2602Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Arg2651Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Arg2784Trp Pathogenic/Likely pathogenic Multiple submitters
Autosomal dominant BRCA2-related cancer types
BRCA2 p.Arg3302Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Arg3302Ser Uncertain significance Multiple submitters
BRCA2-related cancer predisposition
BRCA2 p.Asn2622Ser Uncertain significance Multiple submitters
BRCA2-related cancer predisposition
BRCA2 p.Asn30Lys Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Asn3124Ser Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Asn3168Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Asp1243Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Asp2237Val Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Asp2294Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Asp2317Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Asp2317Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Asp3112Gly Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Asp3142Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Cys19Arg Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Cys19Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Cys19Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Cys2332Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Cys2605Tyr Uncertain significance Multiple submitters
familial colorectal cancer type X
BRCA2 p.Cys2765Tyr Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Gln2539His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Glu182Ala Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Glu182Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Glu182Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Glu2226Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Glu2292Ala Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Glu2292Gly Uncertain significance Multiple submitters
BRCA2-related cancer predisposition
BRCA2 p.Glu2650Lys Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Glu2720Lys Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Gly2281Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Gly2609Ser Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.His2324Pro Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Ile3347Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Leu198Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Leu2327Ser Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Leu2686Phe Uncertain significance Multiple submitters
BRCA2-related cancer predisposition
BRCA2 p.Leu2865Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Leu3274Ser Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Lys2404Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Lys2750Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Lys3163Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Met192Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Phe101Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Phe11Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Phe15Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Phe2562Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Phe2794Ile Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Phe3057Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Phe3159Ser Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Phe62Leu Uncertain significance Multiple submitters
Fanconi anemia complementation group D1
BRCA2 p.Pro168Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Pro168Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Pro168Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Pro201Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Pro202Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Pro202Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Pro2283His Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Pro2283Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Pro2329Thr Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Pro2334Leu Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Pro2409Leu Uncertain significance Multiple submitters
breast-ovarian cancer, familial, susceptibility to, 2
BRCA2 p.Pro2507Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Pro2589Leu Uncertain significance Multiple submitters
familial pancreatic carcinoma
BRCA2 p.Pro2589Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Pro2608Leu Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Pro26Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Pro2735Leu Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Pro2767Leu Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Pro2771Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Pro2798Leu Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Pro3150Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Pro3150Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Pro3301Arg Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Pro3301Leu Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Pro3301Ser Uncertain significance Multiple submitters
hereditary breast carcinoma
BRCA2 p.Ser163Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Ser181Phe Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Ser183Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Ser193Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Ser196Asn Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Ser196Ile Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Ser197Pro Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Ser197Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Ser2554Asn Uncertain significance Multiple submitters
medulloblastoma
BRCA2 p.Ser2554Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Ser2670Pro Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Ser28Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Ser3291Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Thr167Arg Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Thr207Ile Uncertain significance Multiple submitters
BRCA2-related cancer predisposition
BRCA2 p.Trp2586Arg Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Trp395Arg Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Tyr2511Cys Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Tyr2511His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Tyr2541Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRCA2 p.Val188Leu Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Val2652Met Uncertain significance Multiple submitters
Wilms tumor 1
BRCA2 p.Val3081Gly Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
BRCA2 p.Ala1012Thr Uncertain significance Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala1222Gly Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala1222Val Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala1431Pro Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala1431Thr Uncertain significance Single submitter
hereditary breast ovarian cancer syndrome
BRCA2 p.Ala1431Val Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala1527Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala1847Asp Uncertain significance Single submitter
hereditary breast ovarian cancer syndrome
BRCA2 p.Ala1847Thr Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA2 p.Ala1981Gly Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA2 p.Ala1981Thr Uncertain significance Single submitter
hereditary breast ovarian cancer syndrome
BRCA2 p.Ala1981Val Uncertain significance Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala1996Ser Conflicting Single submitter
Fanconi anemia complementation group D1
BRCA2 p.Ala199Pro Conflicting Single submitter
hereditary breast carcinoma
BRCA2 p.Ala2061Ser Uncertain significance Single submitter
hereditary breast ovarian cancer syndrome
BRCA2 p.Ala2061Thr Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRCA2 p.Ala2061Val Likely benign Single submitter
BRCA2 p.Ala2557Gly Uncertain significance Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala2582Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala2603Ser Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala2603Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala2632Gly Likely benign Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala2632Thr Conflicting Single submitter
pancreatic cancer, susceptibility to, 2
BRCA2 p.Ala2633Val Likely benign Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala2671Ser Conflicting Single submitter
familial pancreatic carcinoma
BRCA2 p.Ala2671Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala2682Val Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala2730Thr Uncertain significance Single submitter
hereditary breast ovarian cancer syndrome
BRCA2 p.Ala2756Gly Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala2764Val Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala2786Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRCA2 p.Ala2857Pro Conflicting Single submitter
BRCA2-related cancer predisposition

All BRCA2 variants

Pathogenic 3283

Showing the top 300 by review status; the full set is in the sitemap.

c.1448_1451dupCAGT Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.156_157insAlu Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.1587delinsCA Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.277_317-726delinsCCAT Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.316+1G>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.316+2T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.316+4del Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.316+5G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.316+5G>C Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.475+1G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.475+1G>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.476-2A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.517-2A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.5217_5224del Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.6081dupA Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.631+2T>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.632-1G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.632-2A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.6396dupA Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.6528_6535dup Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.67+1G>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.68-?_316+?del Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.682-2A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.6938-2A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7008-1G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7008-2A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7008-2A>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7008-?_7805+?del Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7617+1G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7617+2T>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7618-1G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7618-2A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7734_7739delAATACAinsCTGATGGTG Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7806-2_7806-1dup Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7806-2A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7976+1G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7977-1G>C Expert panel BRCA2-related cancer predisposition
c.7980_7984delTGATA Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.8312del Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.8487+1G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.8488_8489del Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.8488-1G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.8632+1G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.8633-24_8634del Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.8633-2A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.8754+4A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.8755-1G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.8756del Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.8953+1G>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.8954-1_8955delinsAA Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.9118-2A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.9403del Expert panel breast-ovarian cancer, familial, susceptibility to, 2
n.6325_6326insT Expert panel breast-ovarian cancer, familial, susceptibility to, 2
n.7696_7697insT Expert panel breast-ovarian cancer, familial, susceptibility to, 2
n.8149_8154del6insAG Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala1109fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala127fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala1327fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala1393fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala1411fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala1439fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala1725Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala1797fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala1825fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala1843fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala1996fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala2185fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala2227fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala2231fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala2233fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala22fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala248fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala2526fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala2534fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala2557fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala2582fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala2595fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala2603fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala2637_Phe2638insTer Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala2671fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala2764fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala2770fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala2786fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala2825fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala2951fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala3012fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala3023fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala3088fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala3140fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala3270fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala39fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala483fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala495fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala518fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala565fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala634fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala735fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala737fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala75fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala823_Leu824insTer Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala843fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala902fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala938Profs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Arg1160_Asp1161delinsTer Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Arg1217fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Arg1512fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Arg155_Asp156insTer Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Arg155fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Arg1694Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Arg1704fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Arg1704Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Arg18fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Arg2034fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Arg2108_Val2109insTer Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Arg2112fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Arg212fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Arg2287Ter Expert panel BRCA2-related cancer predisposition
p.Arg2318Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Arg2336fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Arg2336His Expert panel breast-ovarian cancer, familial, susceptibility to, 2 ⚠
p.Arg2389fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Arg2394Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Arg245Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Arg2488fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Arg2494Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Arg2502fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Arg2520fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Arg2520Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Arg259fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Arg259Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Arg2625_Trp2626insTer Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Arg2645Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Arg2651fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Arg2659Gly Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Arg2659Thr Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Arg2666Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Arg2668Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Arg2784fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Arg2799delinsSerTer Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Arg2799fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Arg2799Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Arg2824Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Arg2861Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Arg2892fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Arg2933fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Arg2964fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Arg3007delinsIleTer Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Arg3007fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Arg3052Trp Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Arg3128Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Arg468_Asp469insTer Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Arg645fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Arg847Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Arg858fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Arg8fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1023fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1023Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1066fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1083fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1098fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1098Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1102_Leu1103insTer Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1198fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1201fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1212fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1277fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1287fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1288fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1296fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1312_Tyr1313insTer Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn136fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1377fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1435_Ile1436insTer Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1435fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1448_Phe1449insTer Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1544fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1599fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1600fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1603fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1626fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1642fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1706fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1713fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1719fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1721fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1727fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1747fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1747Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1784_Thr1785insTer Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1784fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1793_Val1794insTer Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1822fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1824fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1833fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1833Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1877fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1906_Ser1907insTer Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1906fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1906Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1933fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1973fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn2051fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn2101fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn2135fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn2145fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn2146fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn2176fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn2189fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn2208fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn2221fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn2259fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn235fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn243_Asp244insTer Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn2436fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn2450fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn2452fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn2460fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn2486_Ala2487insTer Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn2622fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn272fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn2843fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn2879fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn2930fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn3110fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn3124Ile Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn319fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn3264fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn433fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn43fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn444fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn460fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn54fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn556fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn56_Tyr57insTer Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn570fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn615fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn615Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn679fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn801fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn812fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn818fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn825fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn827fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn886fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn986fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn987fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn991fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp1033fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp1054fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp1163fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp1177fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp1199fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp1243fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp1337fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp1383fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp1425fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp1469fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp1469Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp1540fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp1547Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp156Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp1709_Tyr1710insTer Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp1709fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp1728fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp1781fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp1796fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp1864fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp1868fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp1898fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp189fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp1909fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp191fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp1990fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp2023fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp2161fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp2202fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp2218fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp2242fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp23_Leu24insTer Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp2317fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp2444fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp244fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp244Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp2479fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp2489Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp2492fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp252_Ser253insTer Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp252fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp2611fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp2723Ala Expert panel BRCA2-related cancer predisposition
p.Asp2723Gly Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp2723His Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp2733_Pro2734insTer Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp2733delinsThrTyrArgTrpValValCysCysTer Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp281fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp2983fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp3062fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp306fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp3073fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp3142fs Expert panel breast-ovarian cancer, familial, susceptibility to, 2

Pathogenic/Likely pathogenic 288

c.1909+1G>A Multiple submitters Fanconi anemia complementation group D1
c.1910-1G>A Multiple submitters hereditary breast ovarian cancer syndrome
c.1910-1G>T Multiple submitters hereditary breast ovarian cancer syndrome
c.316+1G>A Multiple submitters hereditary neoplastic syndrome
c.317-2A>G Multiple submitters hereditary breast ovarian cancer syndrome
c.426-2A>G Multiple submitters hereditary breast ovarian cancer syndrome
c.475+2T>C Multiple submitters hereditary breast ovarian cancer syndrome
c.475+4del Multiple submitters hereditary neoplastic syndrome
c.476-1G>A Multiple submitters hereditary neoplastic syndrome
c.476-4_476-1delinsT Multiple submitters BRCA2-related cancer predisposition
c.516+1G>T Multiple submitters breast-ovarian cancer, familial, susceptibility to, 2
c.516+2T>A Multiple submitters hereditary neoplastic syndrome
c.516+4A>G Multiple submitters hereditary neoplastic syndrome
c.517-1G>C Multiple submitters hereditary neoplastic syndrome
c.631+1G>C Multiple submitters hereditary neoplastic syndrome
c.631+3A>G Multiple submitters hereditary neoplastic syndrome
c.67+1G>C Multiple submitters Inherited breast cancer and ovarian cancer
c.67+2T>G Multiple submitters hereditary neoplastic syndrome
c.67+3A>G Multiple submitters hereditary neoplastic syndrome
c.681+4A>G Multiple submitters hereditary breast ovarian cancer syndrome
c.682-1G>A Multiple submitters hereditary breast ovarian cancer syndrome
c.682-1G>C Multiple submitters hereditary breast ovarian cancer syndrome
c.682-2A>C Multiple submitters breast-ovarian cancer, familial, susceptibility to, 2
c.6841+1del Multiple submitters hereditary breast ovarian cancer syndrome
c.6938-1G>A Multiple submitters breast-ovarian cancer, familial, susceptibility to, 2
c.6938-1G>C Multiple submitters hereditary breast ovarian cancer syndrome
c.7007+1G>A Multiple submitters hereditary neoplastic syndrome
c.7007+1G>C Multiple submitters Inherited breast cancer and ovarian cancer
c.7007+1G>T Multiple submitters hereditary breast ovarian cancer syndrome
c.7007+2T>G Multiple submitters hereditary neoplastic syndrome
c.7007+5G>C Multiple submitters hereditary neoplastic syndrome
c.7436-1G>A Multiple submitters hereditary neoplastic syndrome
c.7436-1G>T Multiple submitters hereditary breast ovarian cancer syndrome
c.7436-2_7437del Multiple submitters hereditary breast carcinoma
c.7436-2A>T Multiple submitters hereditary neoplastic syndrome
c.7805+2T>C Multiple submitters breast-ovarian cancer, familial, susceptibility to, 2
c.7806-1G>C Multiple submitters hereditary breast ovarian cancer syndrome
c.7806-2A>C Multiple submitters hereditary breast ovarian cancer syndrome
c.7806-2A>T Multiple submitters breast-ovarian cancer, familial, susceptibility to, 2
c.793+1G>A Multiple submitters hereditary neoplastic syndrome
c.793+1G>C Multiple submitters Wilms tumor 1
c.793+1G>T Multiple submitters hereditary breast ovarian cancer syndrome
c.793+2T>G Multiple submitters hereditary breast ovarian cancer syndrome
c.7976+1G>T Multiple submitters hereditary neoplastic syndrome
c.7976+2C>A Multiple submitters breast-ovarian cancer, familial, susceptibility to, 2
c.7976+5G>A Multiple submitters hereditary neoplastic syndrome
c.7976+5G>T Multiple submitters hereditary neoplastic syndrome
c.7977-1G>A Multiple submitters hereditary neoplastic syndrome
c.7977-1G>T Multiple submitters hereditary neoplastic syndrome
c.7977-2A>G Multiple submitters hereditary breast ovarian cancer syndrome
c.7977-3_7977-1delinsAA Multiple submitters breast-ovarian cancer, familial, susceptibility to, 2
c.8331+1G>A Multiple submitters Fanconi anemia complementation group D1
c.8331+2T>C Multiple submitters hereditary breast carcinoma
c.8331+2T>G Multiple submitters breast-ovarian cancer, familial, susceptibility to, 2
c.8332-1G>A Multiple submitters hereditary breast carcinoma
c.8332-1G>C Multiple submitters Wilms tumor 1
c.8332-1G>T Multiple submitters hereditary neoplastic syndrome
c.8332-2A>G Multiple submitters hereditary neoplastic syndrome
c.8332-3384A>T Multiple submitters hereditary neoplastic syndrome
c.8487+3A>G Multiple submitters hereditary neoplastic syndrome
c.8488-1G>T Multiple submitters hereditary neoplastic syndrome
c.8488-2A>C Multiple submitters hereditary breast ovarian cancer syndrome
c.8488-9T>G Multiple submitters hereditary neoplastic syndrome
c.8632+2T>G Multiple submitters hereditary breast ovarian cancer syndrome
c.8633-1G>A Multiple submitters hereditary breast carcinoma
c.8633-2A>C Multiple submitters hereditary neoplastic syndrome
c.8754+1G>C Multiple submitters hereditary neoplastic syndrome
c.8754+1G>T Multiple submitters BRCA2-related disorder
c.8754+3G>C Multiple submitters hereditary breast ovarian cancer syndrome
c.8754+4A>T Multiple submitters hereditary neoplastic syndrome
c.8754+5G>A Multiple submitters hereditary neoplastic syndrome
c.8755-1G>C Multiple submitters medulloblastoma
c.8755-2A>G Multiple submitters hereditary breast ovarian cancer syndrome
c.8755-2A>T Multiple submitters hereditary neoplastic syndrome
c.8953+1del Multiple submitters hereditary neoplastic syndrome
c.8953+1G>A Multiple submitters hereditary breast ovarian cancer syndrome
c.8954-15T>G Multiple submitters breast-ovarian cancer, familial, susceptibility to, 2
c.8954-1G>A Multiple submitters hereditary neoplastic syndrome
c.8954-2_8959del Multiple submitters hereditary neoplastic syndrome
c.8954-2A>G Multiple submitters hereditary neoplastic syndrome
c.8954-5A>G Multiple submitters hereditary breast ovarian cancer syndrome
c.9117+1_9117+2delinsTC Multiple submitters hereditary neoplastic syndrome
c.9117+1del Multiple submitters hereditary neoplastic syndrome
c.9118-1G>A Multiple submitters hereditary breast ovarian cancer syndrome
c.9118-2A>T Multiple submitters breast-ovarian cancer, familial, susceptibility to, 2
c.9256_9256+1delinsTA Multiple submitters hereditary neoplastic syndrome
c.9256+1G>A Multiple submitters hereditary neoplastic syndrome
c.9256+1G>C Multiple submitters hereditary neoplastic syndrome
c.9256+2T>C Multiple submitters hereditary neoplastic syndrome
c.9257-1G>A Multiple submitters hereditary breast ovarian cancer syndrome
c.9257-2A>G Multiple submitters hereditary breast carcinoma
c.9501+1G>A Multiple submitters hereditary neoplastic syndrome
c.9501+1G>T Multiple submitters hereditary neoplastic syndrome
c.9502-2A>C Multiple submitters hereditary breast ovarian cancer syndrome
c.9649-1G>C Multiple submitters hereditary breast ovarian cancer syndrome
c.9649-1G>T Multiple submitters BRCA2-related cancer predisposition
c.9649-2A>G Multiple submitters hereditary breast ovarian cancer syndrome
c.-39-1G>C Multiple submitters hereditary breast ovarian cancer syndrome
c.-39-2A>G Multiple submitters hereditary breast ovarian cancer syndrome
p.Ala2525fs Multiple submitters hereditary breast ovarian cancer syndrome
p.Ala2756fs Multiple submitters hereditary neoplastic syndrome
p.Ala2780fs Multiple submitters hereditary neoplastic syndrome
p.Ala3028Pro Multiple submitters hereditary neoplastic syndrome
p.Ala622Ter Multiple submitters hereditary breast carcinoma
p.Arg1160Ter Multiple submitters hereditary neoplastic syndrome
p.Arg1997fs Multiple submitters hereditary neoplastic syndrome
p.Arg2287fs Multiple submitters hereditary neoplastic syndrome
p.Arg2336Leu Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Arg2336Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg2424fs Multiple submitters hereditary breast ovarian cancer syndrome
p.Arg2659Lys Multiple submitters hereditary neoplastic syndrome
p.Arg2744_Gly2748del Multiple submitters hereditary breast ovarian cancer syndrome
p.Arg2784Trp Multiple submitters Autosomal dominant BRCA2-related cancer types ⚠
p.Arg3022fs Multiple submitters hereditary neoplastic syndrome
p.Asn1023_Ile1024insTer Multiple submitters hereditary neoplastic syndrome
p.Asn1246fs Multiple submitters hereditary breast ovarian cancer syndrome
p.Asn1448fs Multiple submitters hereditary breast ovarian cancer syndrome
p.Asn1544_Leu1545insTer Multiple submitters hereditary breast ovarian cancer syndrome
p.Asn1878fs Multiple submitters hereditary breast carcinoma
p.Asn2299fs Multiple submitters breast-ovarian cancer, familial, susceptibility to, 2
p.Asn2431fs Multiple submitters hereditary breast ovarian cancer syndrome
p.Asn346fs Multiple submitters hereditary neoplastic syndrome
p.Asn404fs Multiple submitters hereditary breast ovarian cancer syndrome
p.Asn678fs Multiple submitters hereditary breast ovarian cancer syndrome
p.Asn957fs Multiple submitters hereditary neoplastic syndrome
p.Asp1033_Ile1034insTer Multiple submitters hereditary neoplastic syndrome
p.Asp1451Ter Multiple submitters hereditary breast ovarian cancer syndrome
p.Asp1547fs Multiple submitters hereditary neoplastic syndrome
p.Asp2005fs Multiple submitters hereditary breast ovarian cancer syndrome
p.Asp23Tyr Multiple submitters breast-ovarian cancer, familial, susceptibility to, 2 ⚠
p.Asp2692fs Multiple submitters hereditary breast ovarian cancer syndrome
p.Asp2723Val Multiple submitters Breast and/or ovarian cancer
p.Asp3095Glu Multiple submitters hereditary neoplastic syndrome
p.Cys1200Ter Multiple submitters hereditary breast ovarian cancer syndrome
p.Cys132fs Multiple submitters hereditary breast ovarian cancer syndrome
p.Cys138Ter Multiple submitters hereditary neoplastic syndrome
p.Cys2473Ter Multiple submitters hereditary breast ovarian cancer syndrome
p.Cys3233Ter Multiple submitters hereditary neoplastic syndrome
p.Cys3253Ter Multiple submitters breast-ovarian cancer, familial, susceptibility to, 2
p.Cys480Ter Multiple submitters hereditary breast ovarian cancer syndrome
p.Cys616fs Multiple submitters hereditary neoplastic syndrome
p.Gln1129Ter Multiple submitters hereditary breast ovarian cancer syndrome
p.Gln1235Ter Multiple submitters hereditary breast ovarian cancer syndrome
p.Gln126Ter Multiple submitters hereditary breast ovarian cancer syndrome
p.Gln1379Ter Multiple submitters hereditary breast ovarian cancer syndrome
p.Gln1623Ter Multiple submitters hereditary breast carcinoma
p.Gln1683fs Multiple submitters hereditary neoplastic syndrome
p.Gln2655Arg Multiple submitters hereditary breast ovarian cancer syndrome
p.Gln2829Arg Multiple submitters BRCA2-related cancer predisposition ⚠
p.Gln2829His Multiple submitters hereditary breast ovarian cancer syndrome
p.Gln2925delinsArgLeuPheGlnTer Multiple submitters hereditary neoplastic syndrome
p.Gln2957fs Multiple submitters hereditary breast ovarian cancer syndrome
p.Gln407Ter Multiple submitters hereditary breast ovarian cancer syndrome
p.Gln499Ter Multiple submitters hereditary neoplastic syndrome
p.Gln684Ter Multiple submitters hereditary breast ovarian cancer syndrome
p.Gln853Ter Multiple submitters hereditary neoplastic syndrome
p.Glu1441Ter Multiple submitters Inherited breast cancer and ovarian cancer
p.Glu1641Ter Multiple submitters hereditary breast ovarian cancer syndrome
p.Glu1688fs Multiple submitters hereditary breast ovarian cancer syndrome
p.Glu1695Ter Multiple submitters hereditary breast ovarian cancer syndrome
p.Glu1838Ter Multiple submitters hereditary breast ovarian cancer syndrome
p.Glu1857fs Multiple submitters hereditary neoplastic syndrome
p.Glu1940Ter Multiple submitters BRCA2-related cancer predisposition
p.Glu2139fs Multiple submitters hereditary breast ovarian cancer syndrome
p.Glu2139Ter Multiple submitters hereditary neoplastic syndrome
p.Glu2475Ter Multiple submitters hereditary neoplastic syndrome
p.Glu2663Lys Multiple submitters hereditary breast ovarian cancer syndrome
p.Glu2878Lys Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Glu2903fs Multiple submitters hereditary breast ovarian cancer syndrome
p.Glu2918= Multiple submitters hereditary breast ovarian cancer syndrome
p.Glu3002Lys Multiple submitters Autosomal dominant BRCA2-related cancer types
p.Glu386fs Multiple submitters hereditary neoplastic syndrome
p.Glu674Ter Multiple submitters hereditary breast carcinoma
p.Glu865fs Multiple submitters hereditary neoplastic syndrome
p.Glu897Ter Multiple submitters hereditary neoplastic syndrome
p.Glu908Ter Multiple submitters hereditary neoplastic syndrome
p.Gly173Arg Multiple submitters Inherited breast cancer and ovarian cancer ⚠
p.Gly2078Ter Multiple submitters hereditary neoplastic syndrome
p.Gly2578Ter Multiple submitters hereditary breast carcinoma
p.Gly2609Asp Multiple submitters hereditary neoplastic syndrome
p.Gly2724Val Multiple submitters hereditary neoplastic syndrome
p.Gly2760delinsValTer Multiple submitters hereditary breast ovarian cancer syndrome
p.Gly2793Arg Multiple submitters hereditary neoplastic syndrome
p.Gly2793Glu Multiple submitters hereditary neoplastic syndrome
p.Gly2837fs Multiple submitters hereditary breast ovarian cancer syndrome
p.Gly602Ter Multiple submitters hereditary breast ovarian cancer syndrome
p.Gly637fs Multiple submitters breast-ovarian cancer, familial, susceptibility to, 2
p.Gly934fs Multiple submitters hereditary breast ovarian cancer syndrome
p.His2147fs Multiple submitters hereditary breast ovarian cancer syndrome
p.His2455fs Multiple submitters hereditary neoplastic syndrome
p.His2623Arg Multiple submitters BRCA2-related cancer predisposition
p.His962fs Multiple submitters hereditary breast ovarian cancer syndrome
p.Ile1446fs Multiple submitters hereditary breast ovarian cancer syndrome
p.Ile2700fs Multiple submitters hereditary breast ovarian cancer syndrome
p.Ile3259fs Multiple submitters hereditary breast carcinoma
p.Ile702fs Multiple submitters BRCA2-related cancer predisposition
p.Ile813fs Multiple submitters hereditary neoplastic syndrome
p.Leu1578Ter Multiple submitters breast-ovarian cancer, familial, susceptibility to, 2
p.Leu1740Ter Multiple submitters hereditary breast ovarian cancer syndrome
p.Leu2015fs Multiple submitters hereditary breast ovarian cancer syndrome
p.Leu2039Ter Multiple submitters hereditary breast ovarian cancer syndrome
p.Leu2136Ter Multiple submitters hereditary breast ovarian cancer syndrome
p.Leu2277fs Multiple submitters hereditary breast ovarian cancer syndrome
p.Leu2289fs Multiple submitters hereditary breast ovarian cancer syndrome
p.Leu2290fs Multiple submitters hereditary neoplastic syndrome
p.Leu2396fs Multiple submitters hereditary breast ovarian cancer syndrome
p.Leu240fs Multiple submitters hereditary breast ovarian cancer syndrome
p.Leu2480Ter Multiple submitters hereditary neoplastic syndrome
p.Leu2510Pro Multiple submitters hereditary neoplastic syndrome
p.Leu2573fs Multiple submitters hereditary breast ovarian cancer syndrome
p.Leu2647Pro Multiple submitters hereditary neoplastic syndrome
p.Leu2653Pro Multiple submitters Breast and/or ovarian cancer
p.Leu2686fs Multiple submitters hereditary neoplastic syndrome
p.Leu2686Pro Multiple submitters hereditary breast ovarian cancer syndrome
p.Leu2688Pro Multiple submitters BRCA2-related cancer predisposition
p.Leu2936fs Multiple submitters hereditary breast ovarian cancer syndrome
p.Leu3087fs Multiple submitters hereditary breast ovarian cancer syndrome
p.Leu3101Arg Multiple submitters BRCA2-related cancer predisposition
p.Leu3101fs Multiple submitters hereditary breast ovarian cancer syndrome
p.Leu3125Phe Multiple submitters hereditary neoplastic syndrome
p.Leu700fs Multiple submitters hereditary neoplastic syndrome
p.Lys1026fs Multiple submitters hereditary neoplastic syndrome
p.Lys1531Ter Multiple submitters hereditary neoplastic syndrome
p.Lys1602Ter Multiple submitters hereditary breast ovarian cancer syndrome
p.Lys178fs Multiple submitters hereditary breast ovarian cancer syndrome
p.Lys1964Ter Multiple submitters breast-ovarian cancer, familial, susceptibility to, 2
p.Lys2075fs Multiple submitters hereditary breast carcinoma
p.Lys2217Ter Multiple submitters hereditary breast ovarian cancer syndrome
p.Lys2232Ter Multiple submitters hereditary breast ovarian cancer syndrome
p.Lys241fs Multiple submitters hereditary breast ovarian cancer syndrome
p.Lys2524fs Multiple submitters hereditary breast ovarian cancer syndrome
p.Lys2524Ter Multiple submitters hereditary breast ovarian cancer syndrome
p.Lys2555Ter Multiple submitters breast-ovarian cancer, familial, susceptibility to, 2
p.Lys2979Ter Multiple submitters hereditary breast ovarian cancer syndrome
p.Lys3015fs Multiple submitters breast-ovarian cancer, familial, susceptibility to, 2
p.Lys351fs Multiple submitters hereditary neoplastic syndrome
p.Lys848fs Multiple submitters hereditary neoplastic syndrome
p.Met1Lys Multiple submitters hereditary breast ovarian cancer syndrome
p.Met1Thr Multiple submitters hereditary breast ovarian cancer syndrome
p.Met524fs Multiple submitters hereditary neoplastic syndrome
p.Phe1125fs Multiple submitters hereditary neoplastic syndrome
p.Phe1524fs Multiple submitters hereditary breast ovarian cancer syndrome
p.Phe2293fs Multiple submitters breast-ovarian cancer, familial, susceptibility to, 2
p.Pro2114fs Multiple submitters Breast and/or ovarian cancer
p.Pro2992_Thr3033del Multiple submitters hereditary neoplastic syndrome
p.Pro3039= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 2
p.Pro3039fs Multiple submitters hereditary breast ovarian cancer syndrome
p.Pro46fs Multiple submitters hereditary breast ovarian cancer syndrome
p.Pro606_Lys607delinsLeuTer Multiple submitters hereditary neoplastic syndrome
p.Pro836fs Multiple submitters breast-ovarian cancer, familial, susceptibility to, 2
p.Ser1069fs Multiple submitters hereditary breast ovarian cancer syndrome
p.Ser1134fs Multiple submitters breast-ovarian cancer, familial, susceptibility to, 2
p.Ser1369fs Multiple submitters hereditary neoplastic syndrome
p.Ser1961fs Multiple submitters hereditary breast ovarian cancer syndrome
p.Ser2053fs Multiple submitters hereditary neoplastic syndrome
p.Ser2071fs Multiple submitters hereditary breast ovarian cancer syndrome
p.Ser2284fs Multiple submitters hereditary neoplastic syndrome
p.Ser2670Leu Multiple submitters medulloblastoma
p.Ser2761_Pro2762insTer Multiple submitters hereditary breast ovarian cancer syndrome
p.Ser303fs Multiple submitters hereditary neoplastic syndrome
p.Ser401Ter Multiple submitters hereditary breast ovarian cancer syndrome
p.Ser641fs Multiple submitters breast-ovarian cancer, familial, susceptibility to, 2
p.Ser791fs Multiple submitters hereditary neoplastic syndrome
p.Thr1282fs Multiple submitters hereditary neoplastic syndrome
p.Thr2469fs Multiple submitters hereditary breast ovarian cancer syndrome
p.Thr2722fs Multiple submitters hereditary breast ovarian cancer syndrome
p.Thr2722Lys Multiple submitters hereditary neoplastic syndrome
p.Thr3195fs Multiple submitters hereditary neoplastic syndrome
p.Trp2626Arg Multiple submitters hereditary breast ovarian cancer syndrome
p.Trp31_Glu33delinsTer Multiple submitters hereditary breast ovarian cancer syndrome
p.Tyr1313fs Multiple submitters hereditary breast ovarian cancer syndrome
p.Tyr1714Ter Multiple submitters hereditary neoplastic syndrome
p.Tyr1757Ter Multiple submitters breast-ovarian cancer, familial, susceptibility to, 2
p.Tyr1762_Lys1767delinsTer Multiple submitters hereditary neoplastic syndrome
p.Tyr2567Ter Multiple submitters hereditary neoplastic syndrome
p.Tyr2660Asp Multiple submitters hereditary breast ovarian cancer syndrome
p.Tyr2726Cys Multiple submitters BRCA2-related cancer predisposition
p.Tyr3092fs Multiple submitters hereditary neoplastic syndrome
p.Tyr3226Ter Multiple submitters hereditary breast ovarian cancer syndrome
p.Val159Met Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Val1986fs Multiple submitters hereditary neoplastic syndrome
p.Val211Leu Multiple submitters BRCA2-related cancer predisposition ⚠
p.Val2407fs Multiple submitters hereditary breast ovarian cancer syndrome
p.Val2468fs Multiple submitters breast-ovarian cancer, familial, susceptibility to, 2
p.Val2527fs Multiple submitters hereditary neoplastic syndrome
p.Val2728fs Multiple submitters hereditary breast ovarian cancer syndrome
p.Val3244fs Multiple submitters hereditary neoplastic syndrome
p.Val358fs Multiple submitters hereditary breast ovarian cancer syndrome

Likely pathogenic 296

c.631+4A>G Expert panel BRCA2-related cancer predisposition
c.632-3C>G Expert panel BRCA2-related cancer predisposition
c.7805+3A>C Expert panel BRCA2-related cancer predisposition
p.Ala2730Pro Expert panel BRCA2-related cancer predisposition
p.Ala3122Pro Expert panel BRCA2-related cancer predisposition
p.Arg2625Ile Expert panel BRCA2-related cancer predisposition
p.Glu2599Gly Expert panel BRCA2-related cancer predisposition
p.Gly2585Arg Expert panel BRCA2-related cancer predisposition
p.Gly2596Glu Expert panel BRCA2-related cancer predisposition
p.Gly2609Val Expert panel BRCA2-related cancer predisposition
p.Gly3076Glu Expert panel BRCA2-related cancer predisposition
p.Leu2604Pro Expert panel BRCA2-related cancer predisposition
p.Leu2656Gln Expert panel BRCA2-related cancer predisposition
p.Leu2721His Expert panel BRCA2-related cancer predisposition
p.Leu2792Arg Expert panel BRCA2-related cancer predisposition
p.Leu2792Pro Expert panel BRCA2-related cancer predisposition
p.Leu3101Pro Expert panel BRCA2-related cancer predisposition
p.Leu3125His Expert panel BRCA2-related cancer predisposition
p.Phe2562Cys Expert panel BRCA2-related cancer predisposition
p.Thr2722Ala Expert panel BRCA2-related cancer predisposition
p.Thr2722Ile Expert panel BRCA2-related cancer predisposition
p.Trp2619Cys Expert panel BRCA2-related cancer predisposition
p.Trp2788Arg Expert panel BRCA2-related cancer predisposition
p.Val2652Gly Expert panel BRCA2-related cancer predisposition
c.1909+2T>A Multiple submitters hereditary neoplastic syndrome
c.476-1G>T Multiple submitters hereditary neoplastic syndrome
c.6841+1G>A Multiple submitters hereditary neoplastic syndrome
c.6841+1G>T Multiple submitters hereditary breast ovarian cancer syndrome
c.6841+2T>A Multiple submitters hereditary neoplastic syndrome
c.6841+2T>G Multiple submitters hereditary neoplastic syndrome
c.7435+2T>A Multiple submitters hereditary neoplastic syndrome
c.7618-10T>G Multiple submitters BRCA2-related cancer predisposition
c.794-1G>A Multiple submitters hereditary breast ovarian cancer syndrome
c.8332-2A>C Multiple submitters hereditary neoplastic syndrome
c.8755-2A>C Multiple submitters hereditary breast ovarian cancer syndrome
c.8954-3C>G Multiple submitters hereditary breast ovarian cancer syndrome
c.9117_9117+11del Multiple submitters hereditary neoplastic syndrome
c.9254_9256+11del Multiple submitters hereditary neoplastic syndrome
c.9502-1G>A Multiple submitters hereditary neoplastic syndrome
c.-39-1_-39del Multiple submitters hereditary breast carcinoma
c.-39-1G>A Multiple submitters BRCA2-related cancer predisposition
p.Arg2645fs Multiple submitters hereditary breast carcinoma
p.Arg3052Leu Multiple submitters hereditary neoplastic syndrome
p.Gln2829Pro Multiple submitters hereditary breast ovarian cancer syndrome
p.Glu2220Ter Multiple submitters hereditary breast carcinoma
p.His2623Tyr Multiple submitters hereditary breast ovarian cancer syndrome
p.Ile2627Asn Multiple submitters hereditary neoplastic syndrome
p.Lys2630Gln Multiple submitters hereditary breast ovarian cancer syndrome
p.Trp31Ser Multiple submitters hereditary breast ovarian cancer syndrome
p.Tyr2601Cys Multiple submitters hereditary breast ovarian cancer syndrome ⚠
c.1904_1909+9del Single submitter hereditary neoplastic syndrome
c.1910-1_1914del Single submitter hereditary neoplastic syndrome
c.1910-2A>C Single submitter hereditary breast carcinoma
c.2484_2485insALU Single submitter hereditary neoplastic syndrome
c.2829_2830insALU Single submitter hereditary neoplastic syndrome
c.316_316+3del Single submitter hereditary breast ovarian cancer syndrome
c.316+1del Single submitter hereditary neoplastic syndrome
c.316+5_316+8del Single submitter breast-ovarian cancer, familial, susceptibility to, 2
c.316+797_476-24del Single submitter breast-ovarian cancer, familial, susceptibility to, 2
c.3390_3391insALU Single submitter hereditary neoplastic syndrome
c.3834_3835insALU Single submitter hereditary neoplastic syndrome
c.426-1G>A Single submitter hereditary breast ovarian cancer syndrome
c.475+1del Single submitter breast-ovarian cancer, familial, susceptibility to, 2
c.4833_4834insALU Single submitter hereditary neoplastic syndrome
c.4992_4993insALU Single submitter hereditary neoplastic syndrome
c.4993_4994insALU Single submitter hereditary neoplastic syndrome
c.517-29_519del Single submitter hereditary breast ovarian cancer syndrome
c.517-2A>T Single submitter hereditary breast ovarian cancer syndrome
c.518_631+462del Single submitter hereditary breast ovarian cancer syndrome
c.518_631+462delinsAAAGAAATTTTATTTCTTT Single submitter hereditary breast ovarian cancer syndrome
c.5990_5991insL1 Single submitter hereditary neoplastic syndrome
c.631+2T>C Single submitter breast-ovarian cancer, familial, susceptibility to, 2
c.632-1dup Single submitter hereditary breast ovarian cancer syndrome
c.67+2del Single submitter hereditary breast ovarian cancer syndrome
c.67+3A>C Single submitter hereditary neoplastic syndrome
c.681+1del Single submitter hereditary breast ovarian cancer syndrome
c.682-3C>G Single submitter hereditary neoplastic syndrome
c.6938-125_6938del Single submitter hereditary breast ovarian cancer syndrome
c.6938-2A>T Single submitter breast-ovarian cancer, familial, susceptibility to, 2
c.6938-5_6956del Single submitter hereditary breast ovarian cancer syndrome
c.7181_7182insALU Single submitter hereditary neoplastic syndrome
c.7435+2T>C Single submitter hereditary neoplastic syndrome
c.7436-1dup Single submitter hereditary breast ovarian cancer syndrome
c.7510_7617+184del Single submitter hereditary neoplastic syndrome
c.7618-187G>T Single submitter hereditary neoplastic syndrome
c.7618-1G>C Single submitter hereditary breast ovarian cancer syndrome
c.7618-516_7653del Single submitter hereditary breast ovarian cancer syndrome
c.7649_7650insALU Single submitter hereditary neoplastic syndrome
c.7804_7805+9del Single submitter hereditary neoplastic syndrome
c.7805+2_7805+3del Single submitter hereditary breast ovarian cancer syndrome
c.7805+2T>A Single submitter
c.7971_7976+4del Single submitter hereditary breast ovarian cancer syndrome
c.7976+1del Single submitter
c.7977-3_7977-2delinsAG Single submitter hereditary breast ovarian cancer syndrome
c.7977-3_7977-2delinsGT Single submitter hereditary breast ovarian cancer syndrome
c.8331+1G>T Single submitter hereditary neoplastic syndrome
c.8332_8487del Single submitter
c.8332-1357_8377del Single submitter hereditary neoplastic syndrome
c.8486_8487+7delinsCCTATG Single submitter hereditary neoplastic syndrome
c.8488-1_8496delinsCT Single submitter hereditary neoplastic syndrome
c.8488-2A>G Single submitter
c.8633-1G>T Single submitter breast-ovarian cancer, familial, susceptibility to, 2
c.8633-27_8633-9del Single submitter hereditary neoplastic syndrome
c.8633-33_8726delinsCAGACCCAGCTT Single submitter hereditary neoplastic syndrome
c.8754+1_8754+5del Single submitter breast-ovarian cancer, familial, susceptibility to, 2
c.8754+1del Single submitter hereditary neoplastic syndrome
c.8754+2_8754+29del Single submitter hereditary breast ovarian cancer syndrome
c.8754+2T>G Single submitter hereditary neoplastic syndrome
c.8755-3_8755-2delinsGG Single submitter hereditary neoplastic syndrome
c.8755-6_8755-2del Single submitter hereditary neoplastic syndrome
c.8755-726_9649-554dup Single submitter
c.8814_8815insALU Single submitter hereditary neoplastic syndrome
c.8829_8830insALU Single submitter hereditary neoplastic syndrome
c.8933_8934insALU Single submitter hereditary neoplastic syndrome
c.8953+1_8953+2insALU Single submitter hereditary neoplastic syndrome
c.8953+1_8953+2insGCCGGGCGCGGTGGCTCACGCCTGTAGTCCCAGCACATGGGGAGGCCGAGGCGGGTGGATCGGGTGGACACGAGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAGATTCAGG Single submitter hereditary breast ovarian cancer syndrome
c.8953+2T>C Single submitter breast-ovarian cancer, familial, susceptibility to, 2
c.8954-2A>C Single submitter hereditary breast ovarian cancer syndrome
c.8954-2A>T Single submitter hereditary breast ovarian cancer syndrome
c.9116_9117+4del Single submitter hereditary neoplastic syndrome
c.9256+2T>A Single submitter hereditary neoplastic syndrome
c.9256+2T>G Single submitter
c.9257-1G>T Single submitter hereditary neoplastic syndrome
c.9327_9328insALU Single submitter hereditary neoplastic syndrome
c.9451_9452insALU Single submitter hereditary neoplastic syndrome
c.9501+1dup Single submitter hereditary neoplastic syndrome
c.9502-1G>C Single submitter hereditary breast carcinoma
c.9502-28A>G Single submitter Wilms tumor 1
c.9502-8_9502-3delinsAA Single submitter hereditary neoplastic syndrome
c.9502-8_9504dup Single submitter hereditary neoplastic syndrome
c.9649-12T>G Single submitter hereditary neoplastic syndrome
c.-39-1delinsAA Single submitter breast-ovarian cancer, familial, susceptibility to, 2
c.-39-89del Single submitter BRCA2-related cancer predisposition
c.-40+1G>C Single submitter hereditary breast ovarian cancer syndrome
c.-40+1G>T Single submitter hereditary breast ovarian cancer syndrome
p.Ala1572_Cys1573insTer Single submitter hereditary breast ovarian cancer syndrome
p.Ala1668_Leu1669insTer Single submitter
p.Ala2603Pro Single submitter hereditary breast ovarian cancer syndrome
p.Ala2780Asp Single submitter hereditary neoplastic syndrome
p.Ala2897fs Single submitter hereditary breast carcinoma
p.Ala994fs Single submitter breast-ovarian cancer, familial, susceptibility to, 2
p.Arg1677Ter Single submitter hereditary breast ovarian cancer syndrome
p.Arg2034Ter Single submitter hereditary neoplastic syndrome
p.Arg2659Ser Single submitter hereditary neoplastic syndrome
p.Arg2973fs Single submitter hereditary breast carcinoma
p.Asn111fs Single submitter breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1363delinsAlaIleTyrTer Single submitter hereditary breast carcinoma
p.Asn1742Ter Single submitter hereditary breast carcinoma
p.Asn1758fs Single submitter
p.Asn1933Ter Single submitter breast-ovarian cancer, familial, susceptibility to, 2
p.Asn2425fs Single submitter hereditary breast ovarian cancer syndrome
p.Asn2553fs Single submitter hereditary breast carcinoma
p.Asn289fs Single submitter hereditary breast ovarian cancer syndrome
p.Asn2937fs Single submitter hereditary neoplastic syndrome
p.Asn3160fs Single submitter hereditary breast ovarian cancer syndrome
p.Asn888fs Single submitter hereditary breast ovarian cancer syndrome
p.Asn896fs Single submitter hereditary breast ovarian cancer syndrome
p.Asp1618Ter Single submitter Fanconi anemia complementation group D1
p.Asp2238fs Single submitter hereditary breast carcinoma
p.Asp3064fs Single submitter hereditary breast ovarian cancer syndrome
p.Cys1580fs Single submitter breast-ovarian cancer, familial, susceptibility to, 2
p.Cys1654fs Single submitter hereditary neoplastic syndrome
p.Cys1893fs Single submitter
p.Cys3097fs Single submitter Breast and/or ovarian cancer
p.Cys315_Arg316delinsTer Single submitter hereditary breast carcinoma
p.Cys3198fs Single submitter
p.Cys554Ter Single submitter breast-ovarian cancer, familial, susceptibility to, 2
p.Gln1063fs Single submitter
p.Gln1987fs Single submitter hereditary breast ovarian cancer syndrome
p.Gln2433Ter Single submitter hereditary breast carcinoma
p.Gln2945Ter Single submitter hereditary breast ovarian cancer syndrome
p.Gln3156Ter Single submitter hereditary breast ovarian cancer syndrome
p.Gln3262Ter Single submitter hereditary breast ovarian cancer syndrome
p.Gln716fs Single submitter hereditary breast ovarian cancer syndrome
p.Glu1157Ter Single submitter Breast and/or ovarian cancer
p.Glu1250fs Single submitter hereditary breast carcinoma
p.Glu1353fs Single submitter hereditary breast ovarian cancer syndrome
p.Glu1550fs Single submitter hereditary breast ovarian cancer syndrome
p.Glu1608Ter Single submitter hereditary breast ovarian cancer syndrome
p.Glu2070Ter Single submitter breast-ovarian cancer, familial, susceptibility to, 2
p.Glu2198Ter Single submitter
p.Glu2391Ter Single submitter hereditary breast ovarian cancer syndrome
p.Glu2635Ter Single submitter prostate cancer
p.Glu2871Ter Single submitter hereditary breast ovarian cancer syndrome
p.Glu2918Asp Single submitter breast-ovarian cancer, familial, susceptibility to, 2 ⚠
p.Glu335fs Single submitter hereditary breast ovarian cancer syndrome
p.Glu456fs Single submitter breast-ovarian cancer, familial, susceptibility to, 2
p.Glu550Ter Single submitter hereditary breast ovarian cancer syndrome
p.Gly106Ter Single submitter hereditary breast carcinoma
p.Gly1500Ter Single submitter breast-ovarian cancer, familial, susceptibility to, 2
p.Gly1696fs Single submitter
p.Gly2140Ter Single submitter breast-ovarian cancer, familial, susceptibility to, 2
p.Gly2528fs Single submitter hereditary breast ovarian cancer syndrome
p.Gly2544fs Single submitter hereditary breast ovarian cancer syndrome
p.Gly2584_Gly2585insTer Single submitter hereditary breast ovarian cancer syndrome
p.Gly2584Val Single submitter hereditary neoplastic syndrome
p.Gly2724Arg Single submitter hereditary breast ovarian cancer syndrome
p.Gly2724Trp Single submitter
p.Gly3076Arg Single submitter hereditary breast ovarian cancer syndrome
p.Gly3134fs Single submitter hereditary breast ovarian cancer syndrome
p.Gly788fs Single submitter
p.His2440fs Single submitter hereditary breast ovarian cancer syndrome
p.His2623Pro Single submitter hereditary breast ovarian cancer syndrome
p.His2932fs Single submitter breast-ovarian cancer, familial, susceptibility to, 2
p.Ile1485fs Single submitter breast-ovarian cancer, familial, susceptibility to, 2
p.Ile2296fs Single submitter hereditary breast ovarian cancer syndrome
p.Ile3075fs Single submitter breast-ovarian cancer, familial, susceptibility to, 2
p.Ile591_Tyr592insTer Single submitter
p.Leu1072fs Single submitter hereditary breast ovarian cancer syndrome
p.Leu1234fs Single submitter
p.Leu1491_Lys1492insTer Single submitter breast-ovarian cancer, familial, susceptibility to, 2
p.Leu2688His Single submitter hereditary neoplastic syndrome
p.Leu2803fs Single submitter hereditary breast ovarian cancer syndrome
p.Leu29_Ser50del Single submitter ovarian serous surface papillary adenocarcinoma
p.Leu2987Arg Single submitter hereditary neoplastic syndrome
p.Leu3074Pro Single submitter hereditary breast ovarian cancer syndrome
p.Leu3093Ter Single submitter hereditary breast ovarian cancer syndrome
p.Leu320fs Single submitter hereditary breast ovarian cancer syndrome
p.Leu446fs Single submitter hereditary breast carcinoma
p.Lys1180fs Single submitter breast-ovarian cancer, familial, susceptibility to, 2
p.Lys1541Ter Single submitter breast-ovarian cancer, familial, susceptibility to, 2
p.Lys172Asn Single submitter hereditary neoplastic syndrome ⚠
p.Lys1850Ter Single submitter breast-ovarian cancer, familial, susceptibility to, 2
p.Lys2013fs Single submitter BRCA2-related cancer predisposition
p.Lys2674Ter Single submitter
p.Lys2791fs Single submitter
p.Lys3084fs Single submitter hereditary breast carcinoma
p.Lys3190fs Single submitter hereditary breast carcinoma
p.Lys3238fs Single submitter
p.Lys349Ter Single submitter hereditary breast carcinoma
p.Lys745fs Single submitter breast-ovarian cancer, familial, susceptibility to, 1
p.Lys797fs Single submitter hereditary breast carcinoma
p.Met1594fs Single submitter hereditary breast ovarian cancer syndrome
p.Phe1142fs Single submitter
p.Phe2642fs Single submitter hereditary breast ovarian cancer syndrome
p.Phe3159fs Single submitter breast-ovarian cancer, familial, susceptibility to, 2
p.Phe354fs Single submitter breast-ovarian cancer, familial, susceptibility to, 2
p.Pro1454fs Single submitter breast-ovarian cancer, familial, susceptibility to, 1
p.Pro1660_Tyr1661insTer Single submitter breast-ovarian cancer, familial, susceptibility to, 2
p.Pro1702fs Single submitter
p.Pro2311fs Single submitter hereditary neoplastic syndrome
p.Pro365fs Single submitter breast-ovarian cancer, familial, susceptibility to, 1
p.Pro65fs Single submitter hereditary breast carcinoma
p.Pro845fs Single submitter breast-ovarian cancer, familial, susceptibility to, 2
p.Ser1075Ter Single submitter Fanconi anemia complementation group D1
p.Ser1106fs Single submitter breast-ovarian cancer, familial, susceptibility to, 2
p.Ser112fs Single submitter hereditary breast carcinoma
p.Ser116fs Single submitter breast-ovarian cancer, familial, susceptibility to, 2
p.Ser1424fs Single submitter hereditary breast ovarian cancer syndrome
p.Ser1437fs Single submitter hereditary breast ovarian cancer syndrome
p.Ser1970fs Single submitter breast-ovarian cancer, familial, susceptibility to, 2
p.Ser2509fs Single submitter hereditary breast carcinoma
p.Ser2782_Arg2784delinsGln Single submitter
p.Ser3284fs Single submitter hereditary neoplastic syndrome
p.Ser571fs Single submitter hereditary breast ovarian cancer syndrome
p.Ser617fs Single submitter hereditary breast ovarian cancer syndrome
p.Ser958fs Single submitter hereditary breast carcinoma
p.Thr1412fs Single submitter pancreatic cancer, susceptibility to, 2
p.Thr251fs Single submitter breast-ovarian cancer, familial, susceptibility to, 2
p.Thr2607Pro Single submitter hereditary neoplastic syndrome
p.Trp2970fs Single submitter hereditary neoplastic syndrome
p.Tyr2511fs Single submitter hereditary breast carcinoma
p.Tyr2726Asn Single submitter hereditary breast ovarian cancer syndrome
p.Tyr2726fs Single submitter
p.Tyr2905Ter Single submitter breast-ovarian cancer, familial, susceptibility to, 2
p.Val1078_Ser1079insTer Single submitter
p.Val2109fs Single submitter
p.Val2190fs Single submitter hereditary breast carcinoma
p.Val2263fs Single submitter Fanconi anemia complementation group D1
p.Val2503fs Single submitter hereditary breast ovarian cancer syndrome
p.Val2687_Leu2688del Single submitter hereditary neoplastic syndrome
p.Val465fs Single submitter Wilms tumor 1
p.Val494fs Single submitter hereditary breast ovarian cancer syndrome
c.67+57_316+123delinsCAC No assertion criteria breast-ovarian cancer, familial, susceptibility to, 2
c.7008-1_7435+372del No assertion criteria breast cancer
c.8633-1G>C No assertion criteria breast-ovarian cancer, familial, susceptibility to, 2
c.9648+2T>C No assertion criteria ovarian neoplasm
p.Asn1147fs No assertion criteria polyposis syndrome, hereditary mixed, 1
p.Asn1312fs No assertion criteria polyposis syndrome, hereditary mixed, 1
p.Asn1319fs No assertion criteria hereditary neoplastic syndrome
p.Asn1666fs No assertion criteria polyposis syndrome, hereditary mixed, 1
p.Asn2447fs No assertion criteria hereditary neoplastic syndrome
p.Glu1113fs No assertion criteria
p.Gly2274fs No assertion criteria breast cancer
p.Gly2281Ter No assertion criteria breast-ovarian cancer, familial, susceptibility to, 2
p.Ile1490fs No assertion criteria polyposis syndrome, hereditary mixed, 1
p.Ile2552fs No assertion criteria hereditary neoplastic syndrome
p.Leu204fs No assertion criteria breast-ovarian cancer, familial, susceptibility to, 2
p.Lys3267fs No assertion criteria polyposis syndrome, hereditary mixed, 1
p.Met1029fs No assertion criteria breast cancer
p.Phe1372_Met1373insTer No assertion criteria breast-ovarian cancer, familial, susceptibility to, 2
p.Phe2045fs No assertion criteria breast-ovarian cancer, familial, susceptibility to, 2
p.Phe2568fs No assertion criteria colorectal cancer
p.Phe376fs No assertion criteria breast-ovarian cancer, familial, susceptibility to, 2
p.Ser313fs No assertion criteria hereditary neoplastic syndrome
p.Thr1150_Ile1151insTer No assertion criteria breast carcinoma

Conflicting classifications of pathogenicity 5512

Showing the top 300 by review status; the full set is in the sitemap.

c.1909+11C>T Single submitter hereditary breast ovarian cancer syndrome
c.1909+22del Single submitter hereditary neoplastic syndrome
c.1909+4C>A Single submitter hereditary neoplastic syndrome
c.1909+6T>A Single submitter hereditary neoplastic syndrome
c.1909+9G>T Single submitter hereditary breast ovarian cancer syndrome
c.1910-6G>A Single submitter hereditary breast ovarian cancer syndrome
c.316+13A>G Single submitter breast-ovarian cancer, familial, susceptibility to, 2
c.317-10A>G Single submitter hereditary neoplastic syndrome
c.317-17T>A Single submitter hereditary neoplastic syndrome
c.317-8T>C Single submitter hereditary breast ovarian cancer syndrome
c.425+2T>C Single submitter hereditary neoplastic syndrome ⚠
c.425+3A>G Single submitter hereditary breast carcinoma
c.425+5G>C Single submitter hereditary breast ovarian cancer syndrome
c.425+6A>G Single submitter hereditary neoplastic syndrome
c.426-12_426-8del Single submitter hereditary neoplastic syndrome
c.426-15T>G Single submitter hereditary neoplastic syndrome
c.426-20T>G Single submitter hereditary neoplastic syndrome
c.475+3A>G Single submitter hereditary neoplastic syndrome
c.475+5G>T Single submitter hereditary neoplastic syndrome
c.475+6A>G Single submitter hereditary neoplastic syndrome
c.476-10T>A Single submitter BRCA2-related cancer predisposition
c.476-11T>C Single submitter hereditary neoplastic syndrome
c.476-3C>T Single submitter hereditary neoplastic syndrome
c.476-8A>C Single submitter hereditary breast ovarian cancer syndrome
c.476-9dup Single submitter hereditary neoplastic syndrome
c.516+5A>G Single submitter hereditary neoplastic syndrome
c.517-14T>G Single submitter hereditary neoplastic syndrome
c.517-3del Single submitter hereditary breast ovarian cancer syndrome
c.517-4C>G Single submitter Inherited breast cancer and ovarian cancer
c.631+13A>G Single submitter hereditary breast ovarian cancer syndrome
c.631+7A>G Single submitter hereditary neoplastic syndrome
c.631+8T>C Single submitter hereditary breast ovarian cancer syndrome
c.632-13T>G Single submitter hereditary neoplastic syndrome
c.632-1G>T Single submitter hereditary neoplastic syndrome ⚠
c.632-2A>C Single submitter hereditary breast ovarian cancer syndrome ⚠
c.632-3C>A Single submitter BRCA2-related cancer predisposition
c.632-3C>T Single submitter Fanconi anemia complementation group D1
c.632-5T>C Single submitter hereditary neoplastic syndrome
c.632-8T>C Single submitter hereditary breast ovarian cancer syndrome
c.67+14T>C Single submitter hereditary breast ovarian cancer syndrome
c.67+16A>T Single submitter hereditary breast ovarian cancer syndrome
c.67+4T>C Single submitter hereditary neoplastic syndrome
c.67+5T>C Single submitter hereditary neoplastic syndrome
c.672_681+23del Single submitter hereditary breast ovarian cancer syndrome
c.68-14T>A Single submitter hereditary breast ovarian cancer syndrome
c.68-2A>G Single submitter hereditary neoplastic syndrome ⚠
c.68-3T>G Single submitter hereditary neoplastic syndrome
c.68-4dup Single submitter hereditary neoplastic syndrome
c.68-5A>G Single submitter hereditary neoplastic syndrome
c.68-6A>T Single submitter Breast and/or ovarian cancer
c.681+2dup Single submitter BRCA2-related cancer predisposition ⚠
c.682-11A>G Single submitter hereditary breast ovarian cancer syndrome
c.682-13A>G Single submitter hereditary neoplastic syndrome
c.682-3C>T Single submitter hereditary breast ovarian cancer syndrome
c.6841+10C>A Single submitter hereditary breast ovarian cancer syndrome
c.6841+8T>G Single submitter familial pancreatic carcinoma
c.6842-11T>A Single submitter hereditary neoplastic syndrome
c.6842-14A>G Single submitter hereditary neoplastic syndrome
c.6842-14A>T Single submitter hereditary neoplastic syndrome
c.6842-23AT[2] Single submitter hereditary breast ovarian cancer syndrome
c.6937+15_6937+20del Single submitter hereditary breast ovarian cancer syndrome
c.6937+565T>C Single submitter breast-ovarian cancer, familial, susceptibility to, 2
c.6937+5A>G Single submitter hereditary breast carcinoma
c.6937+6A>G Single submitter breast-ovarian cancer, familial, susceptibility to, 2
c.6938-15A>G Single submitter hereditary neoplastic syndrome
c.6938-5C>T Single submitter hereditary neoplastic syndrome
c.6938-6_6938-3del Single submitter hereditary breast carcinoma
c.7007+2T>C Single submitter hereditary neoplastic syndrome ⚠
c.7007+53G>A Single submitter hereditary breast ovarian cancer syndrome
c.7007+5G>A Single submitter hereditary breast ovarian cancer syndrome
c.7007+7_7007+8del Single submitter hereditary breast ovarian cancer syndrome
c.7007+9T>C Single submitter hereditary breast ovarian cancer syndrome
c.7008-20_7008-17del Single submitter hereditary neoplastic syndrome
c.7008-21T>C Single submitter hereditary neoplastic syndrome
c.7241_7242delinsTG Single submitter hereditary breast ovarian cancer syndrome
c.7435+10G>A Single submitter hereditary neoplastic syndrome
c.7435+23A>G Single submitter
c.7435+4T>A Single submitter hereditary breast ovarian cancer syndrome
c.7435+5T>C Single submitter hereditary neoplastic syndrome
c.7435+5T>G Single submitter hereditary breast ovarian cancer syndrome
c.7435+6G>A Single submitter Breast and/or ovarian cancer
c.7436-10T>C Single submitter hereditary breast ovarian cancer syndrome
c.7436-12A>G Single submitter hereditary neoplastic syndrome
c.7436-13_7436-10del Single submitter hereditary neoplastic syndrome
c.7436-4A>G Single submitter BRCA2-related cancer predisposition
c.7436-5G>A Single submitter hereditary breast ovarian cancer syndrome
c.7436-6del Single submitter hereditary neoplastic syndrome
c.7436-9C>A Single submitter hereditary breast ovarian cancer syndrome
c.7617+4T>C Single submitter hereditary breast ovarian cancer syndrome
c.7618-16T>G Single submitter hereditary breast ovarian cancer syndrome
c.7618-19G>T Single submitter breast-ovarian cancer, familial, susceptibility to, 2
c.7618-3T>C Single submitter hereditary neoplastic syndrome
c.7618-5T>C Single submitter hereditary neoplastic syndrome
c.7805+4C>A Single submitter hereditary neoplastic syndrome
c.7805+4C>T Single submitter hereditary neoplastic syndrome
c.7805+6C>T Single submitter hereditary breast ovarian cancer syndrome
c.7806-6del Single submitter hereditary breast ovarian cancer syndrome
c.793+5G>A Single submitter hereditary neoplastic syndrome
c.794-6T>C Single submitter breast-ovarian cancer, familial, susceptibility to, 2
c.7976+12G>A Single submitter Breast and/or ovarian cancer
c.7976+4A>G Single submitter hereditary neoplastic syndrome
c.7977-20A>G Single submitter hereditary neoplastic syndrome
c.7977-7C>T Single submitter hereditary breast ovarian cancer syndrome
c.8331+5A>G Single submitter hereditary neoplastic syndrome
c.8331+6_8331+7insCTCTTATGTTAAAGG Single submitter hereditary breast ovarian cancer syndrome
c.8332-3C>G Single submitter hereditary neoplastic syndrome
c.8332-6G>T Single submitter hereditary neoplastic syndrome
c.8487+4T>C Single submitter hereditary neoplastic syndrome
c.8487+8G>T Single submitter hereditary neoplastic syndrome
c.8488-10A>G Single submitter hereditary breast ovarian cancer syndrome
c.8488-14A>G Single submitter hereditary neoplastic syndrome
c.8488-20del Single submitter hereditary neoplastic syndrome
c.8488-3C>T Single submitter hereditary neoplastic syndrome
c.8488-5T>C Single submitter hereditary neoplastic syndrome
c.8632+12_8632+18delinsATATA Single submitter hereditary breast ovarian cancer syndrome
c.8632+6A>G Single submitter hereditary breast ovarian cancer syndrome
c.8633-19_8633-17del Single submitter
c.8633-3T>G Single submitter hereditary breast ovarian cancer syndrome
c.8633-4T>A Single submitter Hereditary cancer
c.8633-5C>G Single submitter hereditary neoplastic syndrome
c.8754+5G>C Single submitter hereditary neoplastic syndrome
c.8754+9G>A Single submitter hereditary breast ovarian cancer syndrome
c.8755-11A>G Single submitter hereditary neoplastic syndrome
c.8755-17A>G Single submitter hereditary neoplastic syndrome
c.8755-19A>G Single submitter hereditary neoplastic syndrome
c.8755-3C>G Single submitter hereditary neoplastic syndrome
c.8755-9T>A Single submitter hereditary neoplastic syndrome
c.8755-9T>C Single submitter hereditary neoplastic syndrome
c.8953+34T>C Single submitter breast-ovarian cancer, familial, susceptibility to, 2
c.8953+4A>G Single submitter hereditary neoplastic syndrome
c.8953+5del Single submitter hereditary neoplastic syndrome
c.8953+80G>A Single submitter breast-ovarian cancer, familial, susceptibility to, 2
c.8954-11T>A Single submitter hereditary neoplastic syndrome
c.8954-13T>C Single submitter hereditary neoplastic syndrome
c.8954-16_8954-8del Single submitter hereditary breast ovarian cancer syndrome
c.8954-3C>T Single submitter hereditary neoplastic syndrome
c.9117+15T>C Single submitter hereditary neoplastic syndrome
c.9117+3A>G Single submitter hereditary neoplastic syndrome
c.9118-3T>C Single submitter hereditary breast ovarian cancer syndrome
c.9118-5T>C Single submitter hereditary neoplastic syndrome
c.9118-6C>A Single submitter hereditary breast ovarian cancer syndrome
c.9118-6C>T Single submitter hereditary breast ovarian cancer syndrome
c.9256+10A>G Single submitter Breast and/or ovarian cancer
c.9256+4A>G Single submitter hereditary neoplastic syndrome
c.9256+6G>A Single submitter hereditary breast ovarian cancer syndrome
c.9256+7C>T Single submitter breast-ovarian cancer, familial, susceptibility to, 2
c.9257-11T>G Single submitter hereditary breast ovarian cancer syndrome
c.9257-8C>T Single submitter hereditary breast ovarian cancer syndrome
c.9501+4A>G Single submitter hereditary neoplastic syndrome
c.9501+5G>A Single submitter hereditary breast ovarian cancer syndrome
c.9501+6G>A Single submitter hereditary neoplastic syndrome
c.9501+6G>T Single submitter hereditary neoplastic syndrome
c.9501+7_9501+8insAGTAAGGTAAGGT Single submitter hereditary breast ovarian cancer syndrome
c.9501+8T>C Single submitter hereditary breast ovarian cancer syndrome
c.9502-40T>A Single submitter hereditary breast ovarian cancer syndrome
c.9502-9T>C Single submitter hereditary neoplastic syndrome
c.9648+10T>G Single submitter hereditary breast ovarian cancer syndrome
c.9648+127G>A Single submitter hereditary breast ovarian cancer syndrome
c.9648+1G>A Single submitter hereditary neoplastic syndrome ⚠
c.9648+1G>C Single submitter hereditary neoplastic syndrome ⚠
c.9648+9A>C Single submitter hereditary breast ovarian cancer syndrome
c.9649-5A>G Single submitter hereditary neoplastic syndrome
c.9649-6dup Single submitter BRCA2-related cancer predisposition
c.9649-6T>A Single submitter hereditary breast ovarian cancer syndrome
c.9649-9T>G Single submitter Inherited breast cancer and ovarian cancer
c.-10G>C Single submitter hereditary neoplastic syndrome
c.-12T>C Single submitter hereditary neoplastic syndrome
c.-13A>G Single submitter hereditary breast ovarian cancer syndrome
c.-14T>C Single submitter hereditary neoplastic syndrome
c.-15A>T Single submitter hereditary breast ovarian cancer syndrome
c.-188C>T Single submitter hereditary neoplastic syndrome
c.-1A>T Single submitter hereditary breast ovarian cancer syndrome
c.-26_-25delinsAG Single submitter hereditary breast ovarian cancer syndrome
c.-39-12_-39-10del Single submitter hereditary neoplastic syndrome
c.-39-8T>C Single submitter hereditary breast ovarian cancer syndrome
c.-3A>G Single submitter hereditary neoplastic syndrome
c.-40+2T>C Single submitter hereditary neoplastic syndrome ⚠
c.-40+7G>T Single submitter hereditary neoplastic syndrome
c.-41G>A Single submitter Hereditary cancer
c.-56C>A Single submitter hereditary breast ovarian cancer syndrome
c.-9T>C Single submitter hereditary neoplastic syndrome
c.*172G>A Single submitter breast-ovarian cancer, familial, susceptibility to, 2
c.*2C>T Single submitter hereditary neoplastic syndrome
c.*50A>G Single submitter breast-ovarian cancer, familial, susceptibility to, 2
p.3015KS[2] Single submitter hereditary breast carcinoma
p.Ala1043Gly Single submitter hereditary neoplastic syndrome ⚠
p.Ala1043Ser Single submitter hereditary breast ovarian cancer syndrome ⚠
p.Ala1043Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala1052Pro Single submitter hereditary breast ovarian cancer syndrome ⚠
p.Ala1052Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala1052Val Single submitter hereditary breast ovarian cancer syndrome ⚠
p.Ala1070Ser Single submitter hereditary neoplastic syndrome ⚠
p.Ala1070Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala1070Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala1109Pro Single submitter hereditary breast ovarian cancer syndrome
p.Ala1109Thr Single submitter hereditary neoplastic syndrome
p.Ala1109Val Single submitter hereditary neoplastic syndrome
p.Ala1162Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala1162Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala1170Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala1170Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala1193Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala1193Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala1204Ser Single submitter hereditary breast ovarian cancer syndrome ⚠
p.Ala1204Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala1204Val Single submitter hereditary breast ovarian cancer syndrome ⚠
p.Ala1222Gly Single submitter hereditary neoplastic syndrome ⚠
p.Ala1222Pro Single submitter hereditary neoplastic syndrome ⚠
p.Ala1222Ser Single submitter hereditary neoplastic syndrome
p.Ala1222Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala1233Thr Single submitter hereditary neoplastic syndrome
p.Ala1233Val Single submitter hereditary neoplastic syndrome
p.Ala1237Pro Single submitter hereditary neoplastic syndrome
p.Ala1237Thr Single submitter hereditary neoplastic syndrome
p.Ala1237Val Single submitter hereditary neoplastic syndrome
p.Ala1253Ser Single submitter hereditary neoplastic syndrome ⚠
p.Ala1253Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala127Ser Single submitter BRCA2-related cancer predisposition ⚠
p.Ala1327Ser Single submitter hereditary neoplastic syndrome ⚠
p.Ala1393Gly Single submitter hereditary neoplastic syndrome ⚠
p.Ala1393Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala1395Ser Single submitter BRCA2-related cancer predisposition ⚠
p.Ala1395Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala1398Pro Single submitter hereditary neoplastic syndrome
p.Ala1398Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala1398Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala1411Gly Single submitter hereditary neoplastic syndrome ⚠
p.Ala1411Ser Single submitter hereditary neoplastic syndrome ⚠
p.Ala1431Pro Single submitter hereditary neoplastic syndrome ⚠
p.Ala1431Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala1439Asp Single submitter hereditary neoplastic syndrome
p.Ala1439Ser Single submitter hereditary breast ovarian cancer syndrome ⚠
p.Ala1439Thr Single submitter BRCA2-related cancer predisposition ⚠
p.Ala1439Val Single submitter hereditary neoplastic syndrome
p.Ala1527Asp Single submitter hereditary neoplastic syndrome ⚠
p.Ala1527Pro Single submitter hereditary neoplastic syndrome ⚠
p.Ala1527Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala1535Ser Single submitter hereditary neoplastic syndrome ⚠
p.Ala1535Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala1564Gly Single submitter hereditary neoplastic syndrome ⚠
p.Ala1564Ser Single submitter hereditary neoplastic syndrome ⚠
p.Ala1572Asp Single submitter hereditary neoplastic syndrome ⚠
p.Ala1572Gly Single submitter hereditary breast ovarian cancer syndrome ⚠
p.Ala1572Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala1572Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala1579Pro Single submitter hereditary neoplastic syndrome ⚠
p.Ala1579Thr Single submitter hereditary breast ovarian cancer syndrome ⚠
p.Ala1579Val Single submitter hereditary breast ovarian cancer syndrome ⚠
p.Ala1587Thr Single submitter hereditary breast ovarian cancer syndrome ⚠
p.Ala1587Val Single submitter hereditary breast ovarian cancer syndrome ⚠
p.Ala1588Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala1648Glu Single submitter hereditary neoplastic syndrome ⚠
p.Ala1648Thr Single submitter Breast and/or ovarian cancer ⚠
p.Ala1648Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala1652Pro Single submitter hereditary breast ovarian cancer syndrome ⚠
p.Ala1652Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala1668Pro Single submitter hereditary breast ovarian cancer syndrome
p.Ala1668Thr Single submitter hereditary neoplastic syndrome
p.Ala1668Val Single submitter hereditary neoplastic syndrome
p.Ala1670Asp Single submitter hereditary neoplastic syndrome
p.Ala1670Val Single submitter hereditary breast ovarian cancer syndrome
p.Ala1689Thr Single submitter hereditary breast ovarian cancer syndrome
p.Ala1689Val Single submitter hereditary neoplastic syndrome
p.Ala1725Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala1725Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala1797Gly Single submitter hereditary neoplastic syndrome ⚠
p.Ala1799Ser Single submitter hereditary neoplastic syndrome ⚠
p.Ala1799Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala1799Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala1825Gly Single submitter hereditary breast ovarian cancer syndrome ⚠
p.Ala1825Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala1826Pro Single submitter hereditary breast ovarian cancer syndrome
p.Ala1826Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala1826Val Single submitter hereditary neoplastic syndrome
p.Ala1843Pro Single submitter hereditary neoplastic syndrome
p.Ala1843Thr Single submitter hereditary neoplastic syndrome
p.Ala1847Gly Single submitter hereditary neoplastic syndrome
p.Ala1847Thr Single submitter hereditary breast ovarian cancer syndrome ⚠
p.Ala1891Pro Single submitter hereditary neoplastic syndrome
p.Ala1891Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala1891Val Single submitter Fanconi anemia complementation group D1 ⚠
p.Ala1896Glu Single submitter hereditary neoplastic syndrome
p.Ala1896Pro Single submitter hereditary neoplastic syndrome
p.Ala1896Val Single submitter hereditary neoplastic syndrome
p.Ala1922Ser Single submitter hereditary breast ovarian cancer syndrome ⚠
p.Ala1972Pro Single submitter hereditary neoplastic syndrome
p.Ala1972Val Single submitter hereditary breast ovarian cancer syndrome ⚠
p.Ala1981Gly Single submitter hereditary breast ovarian cancer syndrome ⚠
p.Ala1981Pro Single submitter hereditary neoplastic syndrome ⚠
p.Ala1991Pro Single submitter hereditary breast ovarian cancer syndrome
p.Ala1991Ser Single submitter hereditary neoplastic syndrome ⚠
p.Ala1991Thr Single submitter hereditary breast ovarian cancer syndrome ⚠
p.Ala1991Val Single submitter breast neoplasm
p.Ala1996Gly Single submitter Breast and/or ovarian cancer
p.Ala1996Ile Single submitter hereditary neoplastic syndrome
p.Ala1996Ser Single submitter Fanconi anemia complementation group D1 ⚠
p.Ala1996Thr Single submitter familial pancreatic carcinoma
p.Ala1996Val Single submitter hereditary neoplastic syndrome
p.Ala199Pro Single submitter hereditary breast carcinoma ⚠
p.Ala2032Pro Single submitter hereditary neoplastic syndrome ⚠

Benign 776

Showing the top 300 by review status; the full set is in the sitemap.

c.1909+1105A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.1909+1200T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.1909+1301del Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.1909+243C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.1909+332A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.1909+389C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.1909+582A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.1909+71T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.1909+823C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.1909+95_1909+99del Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.1910-1124_1910-1121del Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.1910-300T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.1910-346T>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.1910-436del Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.1910-43T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.1910-51G>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.1910-521C>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.1910-542T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.1910-74T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.1910-787G>C Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.1910-952C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.316+1022G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.316+108A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.316+1276G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.316+1343A>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.316+1403T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.316+1482G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.316+1515C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.316+1915G>C Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.316+1919T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.316+2009T>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.316+2212C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.316+2287G>C Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.316+2611T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.316+262G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.316+2827C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.316+314_316+318del Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.316+329A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.316+361A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.316+446A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.316+860G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.316+863A>C Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.317-1215A>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.317-1671G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.317-1680G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.317-1775C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.317-1875G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.317-1908_317-1907del Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.317-2070A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.317-2367G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.317-2491C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.317-2537G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.317-349A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.317-383A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.317-579G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.317-975G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.425+123C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.425+147G>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.425+234G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.425+246G>C Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.425+281_425+284del Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.425+285C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.425+457C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.425+67A>C Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.426-232C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.426-261T>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.426-336T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.426-339G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.426-351T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.426-360C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.426-391T>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.426-400C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.426-405A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.426-414C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.426-89T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.516+21A>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.517-19C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.5704G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.631+1169dup Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.631+1317A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.631+1330T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.631+183T>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.631+541T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.631+679_631+680insC Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.631+680A>C Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.631+981C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.632-1133C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.632-1186T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.632-1199C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.632-567GT[10] Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.632-679A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.632-771A>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.632-803G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.67+1042A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.67+1102T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.67+1134T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.67+1224dup Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.67+1266C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.67+326G>C Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.67+58A>C Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.67+641T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.67+719T>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.67+788_67+791del Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.67+82C>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.68-329G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.68-339G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.68-394T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.68-454A>C Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.68-479T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.68-520G>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.68-545C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.68-7del Expert panel BRCA2-related cancer predisposition
c.68-7T>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.68-973_68-971del Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.68-997C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.681+195T>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.681+209C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.681+298T>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.681+315TA[7] Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.681+56C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.681+670A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.682-254dup Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.682-316G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.682-559G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.682-602C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.6841+1029A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.6841+1037A>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.6841+1091_6841+1092del Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.6841+1334T>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.6841+1344G>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.6841+1456A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.6841+1499C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.6841+1599C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.6841+191C>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.6841+225T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.6841+473A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.6841+640C>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.6841+80_6841+83del Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.6841+964C>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.6842-1122C>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.6842-1350T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.6842-1351T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.6842-1384A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.6842-1496del Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.6842-1559A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.6842-191del Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.6842-20T>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.6842-214T>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.6842-374G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.6842-375del Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.6842-397G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.6842-473A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.6842-839del Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.6842-839dup Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.6937+151A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.6937+177G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.6937+321T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.6937+440C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.6937+594T>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.6937+736A>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.6937+847T>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.6937+978A>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.6938-120T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.6938-313C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.6938-346G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.6938-515G>C Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.6938-624G>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.6938-634dup Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.6938-843C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.6938-948G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7007+1103C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7007+1158dup Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7007+116TTTATAAAA[3] Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7007+1173_7007+1175del Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7007+1298A>C Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7007+1407C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7007+1433C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7007+1569A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7007+157C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7007+2097G>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7007+2333_7007+2343del Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7007+2427_7007+2428insC Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7007+2428A>C Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7007+2436dup Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7007+2456C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7007+2532G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7007+2657C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7007+273G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7007+2777C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7007+2936del Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7007+2955A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7007+3159A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7007+329T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7007+3405dup Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7007+3614G>C Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7007+3851C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7007+3936C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7007+503A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7007+688G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7007+847dup Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7007+905A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7007+911A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7008-1104C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7008-1259T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7008-1387_7008-1386insA Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7008-1388_7008-1387insTA Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7008-1390A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7008-1393_7008-1392del Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7008-1934_7008-1933dup Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7008-1981G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7008-2054A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7008-2337C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7008-2344T>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7008-2952C>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7008-3059dup Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7008-3077ATTTT[4] Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7008-3523T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7008-3741C>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7008-590G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7008-594T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7008-62A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7008-681T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7008-705A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7008-796A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7008-886G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7435+53C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7436-131C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7436-191T>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7617+148G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7617+190G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7617+549G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7618-250G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7805+1290C>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7805+1293G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7805+1373A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7805+1568A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7805+1641T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7805+1860A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7805+1871A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7805+198A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7805+507A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7805+539C>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7805+561dup Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7805+671T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7805+758C>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7805+926G>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7805+956G>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7806-1019G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7806-1175C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7806-1254T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7806-14T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7806-1650C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7806-1749G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7806-2002G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7806-2003C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7806-2101C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7806-2105G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7806-2150T>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7806-2229G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7806-288G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7806-40A>G Expert panel BRCA2-related cancer predisposition
c.7806-429C>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.793+105C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.793+401G>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.793+461C>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.793+98G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.794-172G>C Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.794-411A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.794-494T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.7976+23C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.8331+1086dup Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.8331+109G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.8331+1211A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.8331+1315C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.8331+1415C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.8331+1616T>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.8331+1632G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.8331+1644C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.8331+1715del Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.8331+2609G>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.8331+2675C>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.8331+2724A>C Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.8331+2852T>C Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.8331+3218C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.8331+3223_8331+3226dup Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.8331+333A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.8331+3351del Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.8331+503A>C Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.8331+713dup Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.8331+782A>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.8331+943T>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.8331+999T>A Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.8332-1173del Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.8332-1195_8332-1194del Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.8332-1361C>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.8332-1404C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.8332-1467C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.8332-1523C>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.8332-1591T>G Expert panel breast-ovarian cancer, familial, susceptibility to, 2
c.8332-1592G>T Expert panel breast-ovarian cancer, familial, susceptibility to, 2

Benign/Likely benign 103

c.1909+21_1909+22dup Multiple submitters hereditary breast ovarian cancer syndrome
c.1909+22dup Multiple submitters Breast and/or ovarian cancer
c.1909+9_1909+10del Multiple submitters hereditary neoplastic syndrome
c.316+12A>G Multiple submitters Breast and/or ovarian cancer
c.317-12G>A Multiple submitters hereditary neoplastic syndrome
c.317-22C>T Multiple submitters hereditary breast ovarian cancer syndrome
c.425+33A>G Multiple submitters breast-ovarian cancer, familial, susceptibility to, 2
c.426-37T>A Multiple submitters hereditary neoplastic syndrome
c.516+102T>C Multiple submitters hereditary breast ovarian cancer syndrome
c.516+14C>T Multiple submitters Breast and/or ovarian cancer
c.516+17G>T Multiple submitters hereditary neoplastic syndrome
c.631+18G>A Multiple submitters hereditary neoplastic syndrome
c.631+25C>T Multiple submitters breast-ovarian cancer, familial, susceptibility to, 2
c.631+43G>T Multiple submitters hereditary breast ovarian cancer syndrome
c.632-10del Multiple submitters hereditary neoplastic syndrome
c.632-16A>C Multiple submitters hereditary breast ovarian cancer syndrome
c.632-69T>C Multiple submitters Breast and/or ovarian cancer
c.67+16A>G Multiple submitters hereditary neoplastic syndrome
c.67+17T>C Multiple submitters hereditary neoplastic syndrome
c.67+19T>C Multiple submitters hereditary neoplastic syndrome
c.67+62T>G Multiple submitters hereditary neoplastic syndrome
c.68-17A>G Multiple submitters hereditary neoplastic syndrome
c.68-7dup Multiple submitters Breast and/or ovarian cancer
c.682-12_682-11del Multiple submitters hereditary neoplastic syndrome
c.682-30A>C Multiple submitters breast-ovarian cancer, familial, susceptibility to, 2
c.6841+11A>G Multiple submitters hereditary neoplastic syndrome
c.6842-19A>G Multiple submitters hereditary breast ovarian cancer syndrome
c.6937+13T>G Multiple submitters hereditary neoplastic syndrome
c.6938-25_6938-19del Multiple submitters
c.7007+18T>A Multiple submitters hereditary neoplastic syndrome
c.7008-24_7008-23del Multiple submitters hereditary neoplastic syndrome
c.7617+39G>A Multiple submitters breast-ovarian cancer, familial, susceptibility to, 2
c.7618-21G>T Multiple submitters hereditary breast ovarian cancer syndrome
c.7805+11C>A Multiple submitters hereditary neoplastic syndrome
c.7805+13A>G Multiple submitters hereditary neoplastic syndrome
c.7805+23G>A Multiple submitters hereditary breast ovarian cancer syndrome
c.7805+6C>G Multiple submitters Breast and/or ovarian cancer
c.7805+8A>G Multiple submitters hereditary breast ovarian cancer syndrome
c.7806-11del Multiple submitters hereditary neoplastic syndrome
c.794-11T>C Multiple submitters hereditary breast ovarian cancer syndrome
c.7976+24G>A Multiple submitters hereditary breast ovarian cancer syndrome
c.7976+45G>C Multiple submitters breast-ovarian cancer, familial, susceptibility to, 2
c.7977-14G>A Multiple submitters hereditary neoplastic syndrome
c.8331+14C>T Multiple submitters hereditary neoplastic syndrome
c.8331+16C>G Multiple submitters hereditary neoplastic syndrome
c.8332-41A>G Multiple submitters hereditary breast carcinoma
c.8487+47C>A Multiple submitters hereditary breast carcinoma
c.8487+8G>A Multiple submitters hereditary neoplastic syndrome
c.8488-19G>A Multiple submitters hereditary neoplastic syndrome
c.8632+14T>C Multiple submitters hereditary breast ovarian cancer syndrome
c.8633-14T>C Multiple submitters hereditary neoplastic syndrome
c.8633-16C>G Multiple submitters hereditary breast ovarian cancer syndrome
c.8633-26A>G Multiple submitters hereditary breast ovarian cancer syndrome
c.8755-4A>G Multiple submitters hereditary breast ovarian cancer syndrome
c.8953+16C>T Multiple submitters hereditary neoplastic syndrome
c.8954-5_8954-2del Multiple submitters hereditary neoplastic syndrome
c.9118-4G>A Multiple submitters hereditary neoplastic syndrome
c.9256+13A>G Multiple submitters hereditary breast carcinoma
c.9256+28del Multiple submitters hereditary neoplastic syndrome
c.9257-10del Multiple submitters hereditary neoplastic syndrome
c.9257-10dup Multiple submitters hereditary breast ovarian cancer syndrome
c.9257-15T>C Multiple submitters hereditary neoplastic syndrome
c.9257-18C>A Multiple submitters hereditary breast ovarian cancer syndrome
c.9257-49T>C Multiple submitters hereditary breast ovarian cancer syndrome
c.9502-12T>C Multiple submitters hereditary neoplastic syndrome
c.9648+54G>A Multiple submitters hereditary breast ovarian cancer syndrome
c.9648+84G>A Multiple submitters hereditary breast ovarian cancer syndrome
c.-15A>C Multiple submitters hereditary neoplastic syndrome
c.-39-5del Multiple submitters hereditary neoplastic syndrome
c.*14C>T Multiple submitters hereditary neoplastic syndrome
p.Ala1825Val Multiple submitters hereditary neoplastic syndrome
p.Ala2351Gly Multiple submitters hereditary neoplastic syndrome
p.Arg2668= Multiple submitters hereditary neoplastic syndrome
p.Arg2991His Multiple submitters hereditary neoplastic syndrome
p.Arg3385Cys Multiple submitters BRCA2-related cancer predisposition
p.Asp1699Asn Multiple submitters Breast and/or ovarian cancer
p.Asp381Asn Multiple submitters hereditary breast ovarian cancer syndrome
p.Asp427Glu Multiple submitters hereditary neoplastic syndrome
p.Asp935Asn Multiple submitters BRCA2-related cancer predisposition
p.Cys1960Tyr Multiple submitters BRCA2-related cancer predisposition
p.Cys279= Multiple submitters hereditary neoplastic syndrome
p.Cys315Ser Multiple submitters hereditary neoplastic syndrome
p.Gln713Leu Multiple submitters hereditary neoplastic syndrome
p.Gln850= Multiple submitters hereditary neoplastic syndrome
p.Gly3212Arg Multiple submitters hereditary neoplastic syndrome
p.Ile1724Val Multiple submitters hereditary neoplastic syndrome
p.Lys2950Asn Multiple submitters hereditary breast ovarian cancer syndrome
p.Lys322Gln Multiple submitters hereditary neoplastic syndrome
p.Met1149Val Multiple submitters BRCA2-related cancer predisposition
p.Met2676Thr Multiple submitters hereditary neoplastic syndrome
p.Pro3063Ser Multiple submitters hereditary breast ovarian cancer syndrome
p.Pro3202Leu Multiple submitters hereditary neoplastic syndrome
p.Ser1479Thr Multiple submitters Inherited breast cancer and ovarian cancer
p.Ser3366delinsAsnTyrIleTer Multiple submitters hereditary breast ovarian cancer syndrome
p.Ser671= Multiple submitters hereditary breast ovarian cancer syndrome
p.Ser976Phe Multiple submitters Breast and/or ovarian cancer
p.Ser976Thr Multiple submitters Breast and/or ovarian cancer
p.Thr1557Ser Multiple submitters hereditary neoplastic syndrome
p.Thr3371Ala Multiple submitters Fanconi anemia complementation group D1
p.Tyr2726= Multiple submitters hereditary breast ovarian cancer syndrome
p.Tyr2884Phe Multiple submitters hereditary neoplastic syndrome
p.Val3365_Ser3366insAsnTyrIle Multiple submitters breast-ovarian cancer, familial, susceptibility to, 2
c.681+30T>C No assertion criteria

Likely benign 3795

Showing the top 300 by review status; the full set is in the sitemap.

c.7008-5T>C Expert panel BRCA2-related cancer predisposition
p.Ala1070= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala1204= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala1237= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala127= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala1393= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala1431= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala1922= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala1996= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala2231= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala2306= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala248= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala2534= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala2717= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala2738= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala2951= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala3029= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala3186= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala3246= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala3351= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala3372= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala392= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala518= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala736= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ala737= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Arg1010= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Arg113= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Arg1131= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Arg2295= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Arg2394= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Arg259= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Arg2784= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Arg2896= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Arg3237= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Arg3302= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn108= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1083= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn111= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1312= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1322= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1363= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1402= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1501= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1599= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1766= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1793= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1798= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1824= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1877= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1878= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1878del Expert panel BRCA2-related cancer predisposition
p.Asn1973= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn1995= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn2145= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn2176= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn2189= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn2208= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn2447= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn2450= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn2706= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn2814= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn289= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn30= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn319= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn3213= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn337= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn3407= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn517= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn528= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn55= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn60= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn694= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn830= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn889= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn896= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn918= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asn924= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp1199= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp1210= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp1280= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp1575= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp1769= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp1899= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp1911= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp1923= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp252= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp2583= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp2665= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp2900= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp2938= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp3042= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp306= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp3095= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp3142= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp3188= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp3261= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp3341= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp364= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp420= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp526= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp720= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp752= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp762= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp806= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp913= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Asp935= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Cys1200= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Cys1348= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Cys1675= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Cys1809= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Cys1820= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Cys19= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Cys1960= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Cys1975= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Cys2332= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Cys2817= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Cys3069= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Cys3198= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Cys3233= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Cys393= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Cys711= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Gln1037= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Gln1073= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Gln1175= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Gln126= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Gln1295= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Gln1379= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Gln1396= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Gln1408= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Gln1416= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Gln147= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Gln1562= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Gln1683= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Gln1931= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Gln1998= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Gln2009= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Gln2157= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Gln2163= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Gln2342= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Gln2384= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Gln2433= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Gln2561= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Gln258= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Gln2749= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Gln2899= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Gln2943= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Gln3036= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Gln3050= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Gln3126= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Gln3156= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Gln321= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Gln472= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Gln699= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Gln742= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Gln754= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Gln92= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Gln940= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Glu1110= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Glu1245= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Glu1254= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Glu1415= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Glu1441= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Glu1465= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Glu1481= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Glu1518= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Glu1571= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Glu1646= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Glu1755= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Glu1773= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Glu1895= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Glu2004= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Glu2028= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Glu2175= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Glu2292= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Glu2429= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Glu2663= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Glu2871= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Glu2906= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Glu2924= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Glu2959= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Glu3021= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Glu3111= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Glu3130= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Glu3343= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Glu335= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Glu34= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Glu342= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Glu394= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Glu409= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Glu461= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Glu653= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Glu674= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Glu804= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Glu808= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Glu832= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Glu866= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Glu887= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Glu954= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Gly1224= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Gly1370= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Gly1498= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Gly1508= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Gly1529= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Gly1552= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Gly1849= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Gly1976= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Gly1983= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Gly2140= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Gly2270= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Gly2439= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Gly2544= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Gly3076= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Gly3201= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Gly3355= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Gly500= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Gly602= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Gly788= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.His1071= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.His1223= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.His1362= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.His1525= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.His1561= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.His2038= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.His2147= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.His2178= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.His2323= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.His236= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.His2395= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.His2417= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.His2563= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.His3117= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.His523= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.His739= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.His962= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ile1000= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ile1017= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ile1111= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ile1117= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ile1298= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ile1309= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ile1446= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ile1470= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ile1477= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ile1884= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ile2040= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ile2105= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ile2177= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ile2269= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ile2397= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ile2521= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ile2550= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ile2588= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ile2664= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ile2718= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ile2719= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ile2751= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ile2869= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ile3107= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ile3169= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ile383= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Ile682= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Leu1103= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Leu1118= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Leu1227= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Leu1294= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Leu1368= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Leu1457= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Leu146= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Leu1478= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Leu1491= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Leu1522= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Leu1567= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Leu1616= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Leu1620= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Leu1627= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Leu184= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Leu1908= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Leu1965= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Leu209= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Leu2155= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Leu2277= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Leu2290= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Leu2320= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Leu2396= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Leu2523= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Leu2696= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Leu2721= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Leu2808= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Leu2838= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Leu2862= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Leu2885= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Leu2898= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Leu3000= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Leu3045= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Leu3074= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Leu3101= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Leu3277= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Leu3279= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Leu3317= Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Leu3353= Expert panel breast-ovarian cancer, familial, susceptibility to, 2

Uncertain significance 4078

Showing the top 300 by review status; the full set is in the sitemap.

c.425+1G>A Expert panel BRCA2-related cancer predisposition
c.681+1G>A Expert panel BRCA2-related cancer predisposition
c.794-2A>G Expert panel BRCA2-related cancer predisposition
p.Asn3124Lys Expert panel BRCA2-related cancer predisposition ⚠
p.Asp23Asn Expert panel BRCA2-related cancer predisposition ⚠
p.Glu3309Ter Expert panel BRCA2-related cancer predisposition
p.Glu3316Ter Expert panel breast-ovarian cancer, familial, susceptibility to, 2
p.Gly106Arg Expert panel BRCA2-related cancer predisposition ⚠
p.Gly2748Ser Expert panel BRCA2-related cancer predisposition ⚠
p.Leu2654Pro Expert panel BRCA2-related cancer predisposition ⚠
p.Lys2657Thr Expert panel BRCA2-related cancer predisposition ⚠
p.Phe2562Val Expert panel BRCA2-related cancer predisposition ⚠
p.Tyr2624Cys Expert panel BRCA2-related cancer predisposition ⚠
p.Val2687Phe Expert panel BRCA2-related cancer predisposition ⚠
c.1909+3A>C Multiple submitters hereditary neoplastic syndrome
c.1909+3A>G Multiple submitters hereditary neoplastic syndrome
c.1909+4C>G Multiple submitters hereditary neoplastic syndrome
c.1910-3T>G Multiple submitters hereditary breast ovarian cancer syndrome
c.1910-7del Multiple submitters hereditary breast ovarian cancer syndrome
c.316+3A>G Multiple submitters hereditary breast ovarian cancer syndrome
c.316+4A>G Multiple submitters hereditary neoplastic syndrome
c.316+6T>C Multiple submitters hereditary breast ovarian cancer syndrome
c.317-6T>G Multiple submitters hereditary neoplastic syndrome
c.425+4T>G Multiple submitters hereditary neoplastic syndrome
c.426-12_426-9del Multiple submitters hereditary breast ovarian cancer syndrome
c.426-7_426-4del Multiple submitters hereditary breast ovarian cancer syndrome
c.475+4T>C Multiple submitters hereditary breast carcinoma
c.475+5G>A Multiple submitters hereditary neoplastic syndrome
c.476-3C>A Multiple submitters hereditary neoplastic syndrome
c.516+3A>G Multiple submitters hereditary neoplastic syndrome
c.631+4dup Multiple submitters hereditary neoplastic syndrome
c.631+6A>G Multiple submitters hereditary neoplastic syndrome
c.632-3_632-2del Multiple submitters hereditary neoplastic syndrome
c.68-1G>A Multiple submitters hereditary neoplastic syndrome
c.68-1G>T Multiple submitters hereditary breast ovarian cancer syndrome
c.68-8_68-7inv Multiple submitters hereditary neoplastic syndrome
c.681+3A>G Multiple submitters familial pancreatic carcinoma
c.681+4A>T Multiple submitters hereditary neoplastic syndrome
c.681+5G>A Multiple submitters hereditary neoplastic syndrome
c.681+5G>C Multiple submitters hereditary neoplastic syndrome
c.681+6T>C Multiple submitters hereditary breast ovarian cancer syndrome
c.682-5T>G Multiple submitters hereditary breast ovarian cancer syndrome
c.682-8T>A Multiple submitters breast-ovarian cancer, familial, susceptibility to, 2
c.6841+3A>T Multiple submitters hereditary neoplastic syndrome
c.6841+5G>A Multiple submitters Hereditary cancer
c.6842-12_6842-8del Multiple submitters hereditary breast ovarian cancer syndrome
c.6842-2A>G Multiple submitters hereditary neoplastic syndrome
c.6842-30_6842-3del Multiple submitters hereditary neoplastic syndrome
c.6937+1G>A Multiple submitters BRCA2-related cancer predisposition
c.6937+4A>G Multiple submitters hereditary neoplastic syndrome
c.6937+5A>T Multiple submitters hereditary neoplastic syndrome
c.7007+3A>C Multiple submitters hereditary neoplastic syndrome
c.7007+4A>G Multiple submitters hereditary neoplastic syndrome
c.7008-3C>T Multiple submitters hereditary neoplastic syndrome
c.7008-5T>G Multiple submitters hereditary breast ovarian cancer syndrome
c.7435+3A>G Multiple submitters hereditary breast ovarian cancer syndrome
c.7435+4T>C Multiple submitters hereditary breast ovarian cancer syndrome
c.7617+4_7617+20del Multiple submitters hereditary neoplastic syndrome
c.7617+5G>A Multiple submitters hereditary neoplastic syndrome
c.7806-3C>G Multiple submitters hereditary neoplastic syndrome
c.793+3A>G Multiple submitters hereditary neoplastic syndrome
c.794-4A>G Multiple submitters hereditary neoplastic syndrome
c.794-9C>G Multiple submitters hereditary neoplastic syndrome
c.7976+3A>C Multiple submitters hereditary neoplastic syndrome
c.7977-4_7977-3del Multiple submitters BRCA2-related cancer predisposition
c.7977-5T>C Multiple submitters hereditary neoplastic syndrome
c.8331+3A>C Multiple submitters Wilms tumor 1
c.8332-2dup Multiple submitters hereditary breast ovarian cancer syndrome
c.8488-3C>A Multiple submitters hereditary neoplastic syndrome
c.8632+5A>G Multiple submitters hereditary neoplastic syndrome
c.8633-3T>A Multiple submitters
c.8754+3G>A Multiple submitters hereditary breast ovarian cancer syndrome
c.8755-10A>G Multiple submitters hereditary neoplastic syndrome
c.8755-8G>A Multiple submitters hereditary neoplastic syndrome
c.8953+2dup Multiple submitters hereditary breast ovarian cancer syndrome
c.8953+5G>C Multiple submitters hereditary neoplastic syndrome
c.8953+5G>T Multiple submitters hereditary neoplastic syndrome
c.9117+4C>G Multiple submitters hereditary neoplastic syndrome
c.9118-3_9124del Multiple submitters hereditary neoplastic syndrome
c.9118-5T>A Multiple submitters hereditary breast ovarian cancer syndrome
c.9256+3A>C Multiple submitters hereditary breast ovarian cancer syndrome
c.9256+6G>T Multiple submitters hereditary breast ovarian cancer syndrome
c.9257-6T>G Multiple submitters hereditary breast ovarian cancer syndrome
c.-2A>G Multiple submitters hereditary breast ovarian cancer syndrome
c.-39-11C>T Multiple submitters hereditary neoplastic syndrome
c.-40G>C Multiple submitters hereditary breast ovarian cancer syndrome
c.-57A>G Multiple submitters hereditary breast ovarian cancer syndrome
c.-6G>A Multiple submitters hereditary neoplastic syndrome
c.-6G>C Multiple submitters hereditary neoplastic syndrome
c.-7G>A Multiple submitters hereditary breast ovarian cancer syndrome
c.-7G>C Multiple submitters hereditary breast ovarian cancer syndrome
c.-88G>T Multiple submitters hereditary neoplastic syndrome
c.*271C>A Multiple submitters breast-ovarian cancer, familial, susceptibility to, 2
c.*8C>T Multiple submitters BRCA2-related cancer predisposition
p.Ala1572_Cys1573delinsGlyLysAspPro Multiple submitters hereditary breast ovarian cancer syndrome
p.Ala1588Ser Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Ala186Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala186Thr Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Ala1991Asp Multiple submitters hereditary breast ovarian cancer syndrome
p.Ala1991Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala199Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala199Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala199Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala216Val Multiple submitters breast-ovarian cancer, familial, susceptibility to, 2 ⚠
p.Ala227Pro Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Ala227Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala2306Gly Multiple submitters hereditary neoplastic syndrome
p.Ala2306Ser Multiple submitters hereditary neoplastic syndrome
p.Ala2306Val Multiple submitters hereditary neoplastic syndrome
p.Ala2351Pro Multiple submitters hereditary breast carcinoma
p.Ala2351Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala2376Thr Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Ala2387Val Multiple submitters hereditary neoplastic syndrome
p.Ala248Val Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Ala2526Thr Multiple submitters hereditary neoplastic syndrome
p.Ala2557Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala2557Val Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Ala2595Gly Multiple submitters hereditary breast ovarian cancer syndrome
p.Ala261Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala262Val Multiple submitters hereditary neoplastic syndrome
p.Ala2632Glu Multiple submitters hereditary breast carcinoma ⚠
p.Ala2637Thr Multiple submitters hereditary breast ovarian cancer syndrome
p.Ala2643Thr Multiple submitters hereditary neoplastic syndrome
p.Ala2671_Met2676del Multiple submitters hereditary breast ovarian cancer syndrome
p.Ala2683Val Multiple submitters breast-ovarian cancer, familial, susceptibility to, 2 ⚠
p.Ala2711Thr Multiple submitters hereditary breast ovarian cancer syndrome
p.Ala2730Val Multiple submitters hereditary neoplastic syndrome
p.Ala2764Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala2786Pro Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Ala2825Pro Multiple submitters hereditary neoplastic syndrome
p.Ala2825Val Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Ala2851Gly Multiple submitters hereditary breast ovarian cancer syndrome
p.Ala2852Pro Multiple submitters hereditary neoplastic syndrome
p.Ala2857Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala2864del Multiple submitters hereditary breast ovarian cancer syndrome
p.Ala2864Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala2897Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala2902Thr Multiple submitters hereditary neoplastic syndrome
p.Ala2907Val Multiple submitters hereditary breast ovarian cancer syndrome
p.Ala2955Thr Multiple submitters breast-ovarian cancer, familial, susceptibility to, 2
p.Ala3012Glu Multiple submitters hereditary breast ovarian cancer syndrome
p.Ala3023Gly Multiple submitters hereditary breast ovarian cancer syndrome
p.Ala3028Val Multiple submitters Inherited breast cancer and ovarian cancer
p.Ala3029del Multiple submitters hereditary neoplastic syndrome
p.Ala3122Gly Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Ala3140Gly Multiple submitters hereditary neoplastic syndrome
p.Ala3140Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala3176Thr Multiple submitters hereditary neoplastic syndrome
p.Ala3205Thr Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Ala3235Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala3246Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala3297Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala3297Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala3345Gly Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Ala3345Ser Multiple submitters hereditary neoplastic syndrome
p.Ala3345Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala3345Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala3372Gly Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Ala902Asp Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Arg107Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg113Ser Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Arg118Leu Multiple submitters hereditary neoplastic syndrome
p.Arg118Ser Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Arg1471del Multiple submitters hereditary breast carcinoma
p.Arg155Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg155Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg174Cys Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Arg174Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg18Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg2087Gly Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Arg212Lys Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Arg2272_Arg2273del Multiple submitters hereditary neoplastic syndrome
p.Arg2273del Multiple submitters hereditary breast ovarian cancer syndrome
p.Arg2287Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg2295Lys Multiple submitters hereditary neoplastic syndrome
p.Arg2318Gly Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Arg2319Ser Multiple submitters hereditary neoplastic syndrome
p.Arg2319Thr Multiple submitters hereditary breast ovarian cancer syndrome
p.Arg2341Gly Multiple submitters hereditary breast ovarian cancer syndrome
p.Arg2341His Multiple submitters hereditary neoplastic syndrome
p.Arg2341Leu Multiple submitters hereditary breast ovarian cancer syndrome
p.Arg2389Gly Multiple submitters hereditary breast ovarian cancer syndrome
p.Arg2389Lys Multiple submitters hereditary breast ovarian cancer syndrome
p.Arg2418Lys Multiple submitters hereditary neoplastic syndrome
p.Arg2424Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg2424Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg2432Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg245Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg2494Leu Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Arg2520Gly Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Arg259Lys Multiple submitters BRCA2-related cancer predisposition ⚠
p.Arg2602Gly Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Arg2602Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg2625Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg2651Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg2651Ser Multiple submitters hereditary breast ovarian cancer syndrome
p.Arg2659Ile Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Arg2668Gly Multiple submitters hereditary neoplastic syndrome
p.Arg2678Lys Multiple submitters hereditary neoplastic syndrome
p.Arg2744Ile Multiple submitters hereditary neoplastic syndrome
p.Arg2824Gly Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Arg2824Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg2842Ser Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Arg2861dup Multiple submitters hereditary breast ovarian cancer syndrome
p.Arg2888_Gln2893dup Multiple submitters hereditary neoplastic syndrome
p.Arg2927Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg2964Thr Multiple submitters hereditary breast ovarian cancer syndrome
p.Arg2973Gly Multiple submitters hereditary neoplastic syndrome
p.Arg2973Pro Multiple submitters hereditary breast ovarian cancer syndrome
p.Arg2991Pro Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Arg3005Thr Multiple submitters hereditary neoplastic syndrome
p.Arg3022Lys Multiple submitters hereditary neoplastic syndrome
p.Arg3237Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg3237Met Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg3269Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg3269Ile Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Arg3269Lys Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Arg3269Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg3276Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg3276Ser Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Arg3302_Ser3303delinsSerCys Multiple submitters hereditary neoplastic syndrome
p.Arg3302Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg3302Ser Multiple submitters BRCA2-related cancer predisposition ⚠
p.Arg3381Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg3381Ser Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Arg3381Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg3384Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg67Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg67Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg8Gly Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Asn1023_Ile1024del Multiple submitters hereditary neoplastic syndrome
p.Asn108Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn108Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn1198Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn1212_Glu1213del Multiple submitters hereditary neoplastic syndrome
p.Asn1279del Multiple submitters hereditary neoplastic syndrome
p.Asn1288del Multiple submitters Breast and/or ovarian cancer
p.Asn1322del Multiple submitters hereditary neoplastic syndrome
p.Asn1330His Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Asn1459His Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Asn1718Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn1719del Multiple submitters hereditary neoplastic syndrome
p.Asn1758_Tyr1762del Multiple submitters hereditary neoplastic syndrome
p.Asn1778Ser Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Asn1784Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn1836del Multiple submitters hereditary breast ovarian cancer syndrome
p.Asn2266Asp Multiple submitters hereditary neoplastic syndrome
p.Asn228Ile Multiple submitters hereditary breast ovarian cancer syndrome
p.Asn228Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn2299Asp Multiple submitters hereditary breast ovarian cancer syndrome
p.Asn2346Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn2348His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn235Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn235Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn2390Asp Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Asn2425Asp Multiple submitters BRCA2-related cancer predisposition ⚠
p.Asn2427Asp Multiple submitters hereditary neoplastic syndrome
p.Asn2436His Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Asn2436Ser Multiple submitters hereditary neoplastic syndrome
p.Asn2436Thr Multiple submitters hereditary breast ovarian cancer syndrome
p.Asn2447Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn2458His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn2460Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn2461Lys Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Asn2463Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn2486Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn2553Asp Multiple submitters hereditary neoplastic syndrome
p.Asn2553del Multiple submitters hereditary breast ovarian cancer syndrome
p.Asn2556Ser Multiple submitters hereditary breast ovarian cancer syndrome
p.Asn257Thr Multiple submitters BRCA2-related cancer predisposition ⚠
p.Asn2622Ser Multiple submitters BRCA2-related cancer predisposition ⚠
p.Asn2706Asp Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Asn2814His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn2843Ser Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Asn30Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn30His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn30Lys Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Asn30Ser Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Asn3124Ser Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Asn3168_Ile3169delinsIleSer Multiple submitters atypical teratoid rhabdoid tumor
p.Asn3168Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn3187Asp Multiple submitters hereditary neoplastic syndrome
p.Asn3187Ser Multiple submitters hereditary breast carcinoma ⚠
p.Asn3221Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn3318Ser Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Asn3329His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn3329Ile Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Asn3337Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn3407Ile Multiple submitters BRCA2-related cancer predisposition ⚠
p.Asn433Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn43Ser Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Asn517Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn560Ser Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Asn679del Multiple submitters hereditary neoplastic syndrome
p.Asn719Ser Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Asn72Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn72del Multiple submitters hereditary neoplastic syndrome
p.Asn72Ile Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Asn72Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn72Tyr Multiple submitters hereditary neoplastic syndrome ⚠