PALB2 — 5924 ClinVar variants

All ClinVar germline PALB2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 2988 flagged for review →

777 Pathogenic · 199 Pathogenic/Likely pathogenic · 159 Likely pathogenic · 711 Conflicting · 110 Benign · 460 Benign/Likely benign · 830 Likely benign · 2678 Uncertain significance

Full PALB2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 2988

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 2

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

PALB2 p.Arg1117Lys Pathogenic Expert panel
PALB2-related cancer predisposition
PALB2 p.Lys16Thr Likely pathogenic Multiple submitters
hereditary neoplastic syndrome

Predictors agree, ClinVar conflicts 542

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification. · showing the 150 best-reviewed of 542

PALB2 p.Ala1025Thr Conflicting Single submitter
pancreatic cancer, susceptibility to, 3
PALB2 p.Ala1079Ser Conflicting Single submitter
breast-ovarian cancer, familial, susceptibility to, 5
PALB2 p.Ala188Gly Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Ala245Ser Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Ala245Val Conflicting Single submitter
breast-ovarian cancer, familial, susceptibility to, 5
PALB2 p.Ala308Val Conflicting Single submitter
hereditary breast carcinoma
PALB2 p.Ala38Gly Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Ala38Val Conflicting Single submitter
ovarian cancer
PALB2 p.Ala406Val Conflicting Single submitter
hereditary breast carcinoma
PALB2 p.Ala491Pro Conflicting Single submitter
PALB2-related disorder
PALB2 p.Ala491Thr Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Ala503Pro Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Ala519Asp Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Ala523Gly Conflicting Single submitter
hereditary breast carcinoma
PALB2 p.Ala579Thr Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Ala590Val Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Ala712Pro Conflicting Single submitter
Inherited breast cancer and ovarian cancer
PALB2 p.Ala783Val Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Ala880Thr Conflicting Single submitter
hereditary breast carcinoma
PALB2 p.Ala900Pro Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Ala900Val Conflicting Single submitter
pancreatic cancer, susceptibility to, 3
PALB2 p.Ala903Thr Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Ala915Thr Conflicting Single submitter
breast-ovarian cancer, familial, susceptibility to, 5
PALB2 p.Ala946Thr Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Arg1086Gln Conflicting Single submitter
breast-ovarian cancer, familial, susceptibility to, 5
PALB2 p.Arg1086Gly Conflicting Single submitter
familial pancreatic carcinoma
PALB2 p.Arg120Gly Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Arg146Ser Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Arg147Lys Conflicting Single submitter
hereditary breast carcinoma
PALB2 p.Arg170Gly Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Arg170Thr Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Arg189Ile Conflicting Single submitter
hereditary breast carcinoma
PALB2 p.Arg196Lys Conflicting Single submitter
PALB2-related disorder
PALB2 p.Arg282Gly Conflicting Single submitter
hereditary breast carcinoma
PALB2 p.Arg282Ser Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Arg34His Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Arg365Gly Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Arg37His Conflicting Single submitter
hereditary breast carcinoma
PALB2 p.Arg40Lys Conflicting Single submitter
breast-ovarian cancer, familial, susceptibility to, 5
PALB2 p.Arg541Lys Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Arg566Cys Conflicting Single submitter
hereditary breast carcinoma
PALB2 p.Arg566His Conflicting Single submitter
pancreatic cancer, susceptibility to, 3
PALB2 p.Arg566Pro Conflicting Single submitter
breast-ovarian cancer, familial, susceptibility to, 5
PALB2 p.Arg594Lys Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Arg663Cys Conflicting Single submitter
familial pancreatic carcinoma
PALB2 p.Arg663His Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Arg686Lys Conflicting Single submitter
PALB2-related disorder
PALB2 p.Arg753Gln Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Arg825Gly Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Arg825Thr Conflicting Single submitter
breast-ovarian cancer, familial, susceptibility to, 5
PALB2 p.Asn1034Ser Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Asn186Ile Conflicting Single submitter
breast-ovarian cancer, familial, susceptibility to, 5
PALB2 p.Asn186Ser Conflicting Single submitter
hereditary breast carcinoma
PALB2 p.Asn241Ser Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Asn335Ser Conflicting Single submitter
hereditary breast carcinoma
PALB2 p.Asn336His Conflicting Single submitter
hereditary breast carcinoma
PALB2 p.Asn344Asp Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Asn349Thr Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Asn366Asp Conflicting Single submitter
Inherited breast cancer and ovarian cancer
PALB2 p.Asn366Ser Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Asn368Ser Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Asn418Asp Conflicting Single submitter
Fanconi anemia complementation group N
PALB2 p.Asn418Ser Conflicting Single submitter
hereditary breast carcinoma
PALB2 p.Asn455Ile Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Asn455Ser Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Asn497Ser Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Asn716Asp Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Asn716Lys Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Asn716Ser Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Asn821His Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Asn821Tyr Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Asn854Ser Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Asn930Asp Conflicting Single submitter
hereditary breast carcinoma
PALB2 p.Asn938Ser Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Asp101Glu Conflicting Single submitter
pancreatic cancer, susceptibility to, 3
PALB2 p.Asp111Asn Conflicting Single submitter
hereditary breast carcinoma
PALB2 p.Asp1141Asn Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Asp122Gly Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Asp134Asn Conflicting Single submitter
Breast and/or ovarian cancer
PALB2 p.Asp161Glu Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Asp161His Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Asp219Gly Conflicting Single submitter
breast-ovarian cancer, familial, susceptibility to, 5
PALB2 p.Asp277Asn Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Asp301Gly Conflicting Single submitter
hereditary breast carcinoma
PALB2 p.Asp360Gly Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Asp434Ala Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Asp434Gly Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Asp446Gly Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Asp446Val Conflicting Single submitter
breast-ovarian cancer, familial, susceptibility to, 5
PALB2 p.Asp459Glu Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Asp459Gly Conflicting Single submitter
breast-ovarian cancer, familial, susceptibility to, 5
PALB2 p.Asp498Asn Conflicting Single submitter
hereditary breast carcinoma
PALB2 p.Asp498Tyr Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Asp525Tyr Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Asp585Asn Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Asp586Asn Conflicting Single submitter
Breast and/or ovarian cancer
PALB2 p.Asp595Asn Conflicting Single submitter
hereditary breast carcinoma
PALB2 p.Asp595Gly Conflicting Single submitter
hereditary breast carcinoma
PALB2 p.Asp611Glu Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Asp665Val Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Asp674Asn Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Asp714Asn Conflicting Single submitter
familial pancreatic carcinoma
PALB2 p.Asp717Asn Conflicting Single submitter
hereditary breast carcinoma
PALB2 p.Asp777Asn Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Asp777Tyr Conflicting Single submitter
hereditary breast carcinoma
PALB2 p.Asp801Asn Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Asp801Gly Conflicting Single submitter
hereditary breast carcinoma
PALB2 p.Asp893Tyr Conflicting Single submitter
breast-ovarian cancer, familial, susceptibility to, 5
PALB2 p.Asp89Gly Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Asp953Gly Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Asp997Tyr Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Cys1078Ser Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Cys1127Arg Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Cys1127Tyr Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Cys162Ser Conflicting Single submitter
hereditary breast carcinoma
PALB2 p.Cys327Tyr Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Cys396Tyr Conflicting Single submitter
hereditary breast carcinoma
PALB2 p.Cys419Arg Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Cys469Trp Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Cys653Tyr Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Cys756Tyr Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Cys768Ser Conflicting Single submitter
hereditary breast carcinoma
PALB2 p.Cys77Arg Conflicting Single submitter
hereditary breast carcinoma
PALB2 p.Cys802Ser Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Cys882Phe Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Cys949Tyr Conflicting Single submitter
pancreatic cancer, susceptibility to, 3
PALB2 p.Gln1023Glu Conflicting Single submitter
hereditary breast carcinoma
PALB2 p.Gln1044His Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Gln1114His Conflicting Single submitter
hereditary breast carcinoma
PALB2 p.Gln1146Glu Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Gln1146His Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Gln139Pro Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Gln348Lys Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Gln370Arg Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Gln377Pro Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Gln460Arg Conflicting Single submitter
breast-ovarian cancer, familial, susceptibility to, 5
PALB2 p.Gln552His Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Gln559Glu Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Gln568His Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Gln568Lys Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Gln602Glu Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Gln602Leu Conflicting Single submitter
hereditary breast carcinoma
PALB2 p.Gln613Leu Conflicting Single submitter
hereditary breast carcinoma
PALB2 p.Gln61Leu Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Gln740Glu Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Gln759His Conflicting Single submitter
hereditary breast carcinoma
PALB2 p.Gln795Glu Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Gln797Lys Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Gln838Glu Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Gln856Glu Conflicting Single submitter
hereditary neoplastic syndrome

Predicted LoF vs a conflicting call 18

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.

PALB2 c.1684+2T>A Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 c.1685-1G>A Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 c.1685-2A>C Conflicting Single submitter
hereditary breast carcinoma
PALB2 c.1685-2A>G Conflicting Single submitter
hereditary breast carcinoma
PALB2 c.212-1G>A Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 c.212-2A>C Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 c.212-2A>G Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 c.2587-1G>C Conflicting Single submitter
breast-ovarian cancer, familial, susceptibility to, 5
PALB2 c.2587-2A>C Conflicting Single submitter
hereditary breast carcinoma
PALB2 c.2748+2dup Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 c.2997-1G>A Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 c.2997-2A>G Conflicting Single submitter
hereditary breast carcinoma
PALB2 c.3201+2dup Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 c.3350+2C>T Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 c.3351-2A>T Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 c.48+1G>C Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 c.49-1G>A Conflicting Single submitter
hereditary breast carcinoma
PALB2 c.49-2A>G Conflicting Single submitter
hereditary breast carcinoma

Predictors lean, ClinVar uncertain 2184

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 2184

PALB2 p.Ala1017Thr Uncertain significance Expert panel
PALB2-related cancer predisposition
PALB2 p.Ala291Thr Uncertain significance Expert panel
PALB2-related cancer predisposition
PALB2 p.Ile944Asn Uncertain significance Expert panel
PALB2-related cancer predisposition
PALB2 p.Leu35Pro Uncertain significance Expert panel
PALB2-related cancer predisposition
PALB2 p.Leu583Trp Uncertain significance Expert panel
PALB2-related cancer predisposition
PALB2 p.Pro113Leu Uncertain significance Expert panel
PALB2-related cancer predisposition
PALB2 p.Thr1030Ile Uncertain significance Expert panel
PALB2-related cancer predisposition
PALB2 p.Trp912Gly Uncertain significance Expert panel
PALB2-related cancer predisposition
PALB2 p.Ala1017Pro Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Ala1025Val Uncertain significance Multiple submitters
familial pancreatic carcinoma
PALB2 p.Ala1057Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Ala1079Val Uncertain significance Multiple submitters
breast-ovarian cancer, familial, susceptibility to, 5
PALB2 p.Ala1129Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Ala1129Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Ala1129Val Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Ala1138Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Ala1173Val Uncertain significance Multiple submitters
breast-ovarian cancer, familial, susceptibility to, 5
PALB2 p.Ala227Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Ala22Val Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Ala245Pro Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Ala291Val Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Ala323Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Ala323Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Ala323Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Ala339Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Ala339Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Ala33Thr Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Ala385Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Ala391Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Ala41Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Ala424Thr Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Ala424Val Uncertain significance Multiple submitters
breast-ovarian cancer, familial, susceptibility to, 5
PALB2 p.Ala427Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Ala447Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Ala447Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Ala491Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Ala491Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Ala503Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Ala507Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Ala507Val Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Ala519Gly Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Ala519Pro Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Ala519Val Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Ala523Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Ala579Pro Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Ala579Val Uncertain significance Multiple submitters
familial pancreatic carcinoma
PALB2 p.Ala587Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Ala590Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Ala590Gly Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Ala736Asp Uncertain significance Multiple submitters
breast-ovarian cancer, familial, susceptibility to, 5
PALB2 p.Ala736Gly Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Ala736Val Uncertain significance Multiple submitters
Breast and/or ovarian cancer
PALB2 p.Ala746Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Ala761Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Ala770Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Ala842Val Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Ala874Asp Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Ala874Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Ala890Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Ala900Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Ala903Pro Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Ala903Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Ala915Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Ala935Gly Uncertain significance Multiple submitters
pancreatic cancer, susceptibility to, 3
PALB2 p.Ala935Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Ala935Val Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Ala946Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Ala968Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Ala995Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Ala995Val Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Arg120Thr Uncertain significance Multiple submitters
pancreatic cancer, susceptibility to, 3
PALB2 p.Arg131Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Arg146Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Arg146Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Arg153Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Arg160Lys Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Arg189Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Arg189Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Arg189Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Arg196Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Arg238Gly Uncertain significance Multiple submitters
Fanconi anemia complementation group N
PALB2 p.Arg238Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Arg239Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Arg244Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Arg244Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Arg244Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Arg282Lys Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Arg40Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Arg411Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Arg414Gln Uncertain significance Multiple submitters
familial pancreatic carcinoma
PALB2 p.Arg464Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Arg464Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Arg501Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Arg501Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Arg510Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Arg510Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Arg511Lys Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Arg511Ser Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Arg516Ile Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Arg541Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Arg566Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Arg646Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Arg646Lys Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Arg663Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Arg686Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Arg718Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Arg794Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Arg794Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Arg879Gly Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Arg942Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Arg975Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Asn108Tyr Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Asn1096Lys Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Asn1096Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Asn1179Ser Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Asn241His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Asn280His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Asn280Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Asn302Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Asn302Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Asn330Asp Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Asn330Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Asn335Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Asn335Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Asn336Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Asn344Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Asn368Lys Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Asn444Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Asn450His Uncertain significance Multiple submitters
breast-ovarian cancer, familial, susceptibility to, 5
PALB2 p.Asn452Lys Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Asn497Asp Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Asn497Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Asn540Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Asn540Ser Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Asn577Asp Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Asn577Ser Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Asn709Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Asn826Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Asn863Asp Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Asn863Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Asn930Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Asp101Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Asp101His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Asp1052Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Asp1052His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Asp1052Val Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Asp1053Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Asp111Gly Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Asp1125Glu Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Asp1125His Uncertain significance Multiple submitters
hereditary neoplastic syndrome

Predictors split 242

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 242

PALB2 p.Arg37Ser Uncertain significance Expert panel
PALB2-related cancer predisposition
PALB2 p.Tyr28Asn Uncertain significance Expert panel
PALB2-related cancer predisposition
PALB2 p.Ala1173Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Ala1173Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Ala1173Thr Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Ala22Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Ala33Asp Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Ala38Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Ala890Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Arg37Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Arg37Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Arg411Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Arg945Gly Uncertain significance Multiple submitters
diffuse midline glioma, H3 K27-altered
PALB2 p.Asn1033Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Asn1039Thr Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Asn1096Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Asn930Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Asp1141His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Asp871Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Asp893Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Cys1060Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Cys868Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Cys933Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Gln1004Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Gln921His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Gln958Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Gln987Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Gln988Pro Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Glu1011Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Glu1120Lys Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Glu13Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Glu13Lys Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Glu27Gly Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Gly1068Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Gly1068Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Gly1116Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Gly1116Ser Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Gly1145Arg Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Gly1145Asp Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Gly1174Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Gly620Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Gly998Glu Benign/Likely benign Multiple submitters
hereditary breast ovarian cancer syndrome
PALB2 p.His1126Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Ile1013Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Ile1013Thr Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Ile1051Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Ile1137Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Ile1180Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Ile888Thr Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Ile922Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Ile944Met Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Ile966Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Leu1014Pro Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Leu1027Phe Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Leu1045Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Leu1074Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Leu1110Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Leu1150Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Leu1171Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Leu24Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Leu24Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Leu24Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Leu614Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Leu622Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Leu939Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Leu960Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Leu961Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Leu970Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Lys1098Asn Uncertain significance Multiple submitters
breast-ovarian cancer, familial, susceptibility to, 5
PALB2 p.Lys1163Glu Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Lys14Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Lys20Ile Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Lys623Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Lys862Asn Uncertain significance Multiple submitters
Breast and/or ovarian cancer
PALB2 p.Met1007Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Phe1016Leu Uncertain significance Multiple submitters
Fanconi anemia complementation group N
PALB2 p.Phe107Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Phe1161Ser Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Phe1181Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Phe242Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Phe914Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Phe914Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Phe994Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Pro1097Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Pro1097Leu Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Pro1097Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Pro1111Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Pro615Ser Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Pro615Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Ser10Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Ser1102Arg Uncertain significance Multiple submitters
Fanconi anemia complementation group N
PALB2 p.Ser1155Pro Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Ser1165Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Ser29Arg Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Ser867Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Ser896Pro Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Ser979Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Thr1030Ala Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Thr1099Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Thr31Ala Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Trp1159Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Tyr28Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Tyr28His Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Tyr408Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Tyr408Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Tyr408His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Tyr409Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Val1073Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Val1123Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Val1162Met Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Val870Leu Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Val923Phe Uncertain significance Multiple submitters
hereditary breast carcinoma
PALB2 p.Val925Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Val991Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Val991Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PALB2 p.Ala1130Val Uncertain significance Single submitter
hereditary breast carcinoma
PALB2 p.Ala1138Thr Conflicting Single submitter
pancreatic cancer, susceptibility to, 3
PALB2 p.Ala1173Pro Uncertain significance Single submitter
hereditary neoplastic syndrome
PALB2 p.Ala33Pro Conflicting Single submitter
hereditary breast ovarian cancer syndrome
PALB2 p.Ala41Pro Uncertain significance Single submitter
hereditary breast carcinoma
PALB2 p.Ala946Pro Uncertain significance Single submitter
hereditary breast carcinoma
PALB2 p.Ala968Gly Conflicting Single submitter
breast-ovarian cancer, familial, susceptibility to, 5
PALB2 p.Ala968Val Uncertain significance Single submitter
hereditary breast carcinoma
PALB2 p.Arg1117Ser Uncertain significance Single submitter
hereditary breast carcinoma
PALB2 p.Arg26Ser Uncertain significance Single submitter
hereditary neoplastic syndrome
PALB2 p.Arg34Cys Conflicting Single submitter
Inherited breast cancer and ovarian cancer
PALB2 p.Arg34Leu Conflicting Single submitter
hereditary breast carcinoma
PALB2 p.Arg37Cys Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Arg37Pro Uncertain significance Single submitter
hereditary breast carcinoma
PALB2 p.Arg40Ser Uncertain significance Single submitter
hereditary neoplastic syndrome
PALB2 p.Arg945Thr Uncertain significance Single submitter
hereditary breast carcinoma
PALB2 p.Arg976Ser Uncertain significance Single submitter
hereditary neoplastic syndrome
PALB2 p.Asp1122Val Uncertain significance Single submitter
PALB2 p.Cys1060Ser Uncertain significance Single submitter
hereditary breast carcinoma
PALB2 p.Cys891Trp Uncertain significance Single submitter
familial pancreatic carcinoma
PALB2 p.Cys933Ser Uncertain significance Single submitter
hereditary neoplastic syndrome
PALB2 p.Gln36His Uncertain significance Single submitter
hereditary breast carcinoma
PALB2 p.Gln921Pro Uncertain significance Single submitter
hereditary breast carcinoma
PALB2 p.Gln987Lys Uncertain significance Single submitter
hereditary neoplastic syndrome
PALB2 p.Glu1011Gly Uncertain significance Single submitter
hereditary neoplastic syndrome
PALB2 p.Glu1011Lys Uncertain significance Single submitter
hereditary breast carcinoma
PALB2 p.Glu1024Val Uncertain significance Single submitter
hereditary breast carcinoma
PALB2 p.Glu13Val Uncertain significance Single submitter
hereditary breast carcinoma
PALB2 p.Glu54Gly Conflicting Single submitter
hereditary breast carcinoma
PALB2 p.Glu940Lys Uncertain significance Single submitter
hereditary neoplastic syndrome
PALB2 p.Glu943Asp Uncertain significance Single submitter
hereditary breast carcinoma
PALB2 p.Gly1043Ala Conflicting Single submitter
hereditary breast carcinoma
PALB2 p.Gly1068Arg Uncertain significance Single submitter
hereditary neoplastic syndrome
PALB2 p.Gly1135Glu Conflicting Single submitter
hereditary neoplastic syndrome
PALB2 p.Gly1145Val Uncertain significance Single submitter
hereditary neoplastic syndrome

All PALB2 variants

Pathogenic 777

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

p.Ala842fs Expert panel PALB2-related cancer predisposition
p.Arg1117Lys Expert panel PALB2-related cancer predisposition ⚠
p.Asn930fs Expert panel PALB2-related cancer predisposition
p.Gln228Ter Expert panel PALB2-related cancer predisposition
p.Glu178fs Expert panel PALB2-related cancer predisposition
p.Glu3Ter Expert panel PALB2-related cancer predisposition
p.Leu531fs Expert panel PALB2-related cancer predisposition
p.Ser172fs Expert panel PALB2-related cancer predisposition
p.Trp1038Ter Expert panel PALB2-related cancer predisposition
c.1675_1676delinsTG Multiple submitters breast-ovarian cancer, familial, susceptibility to, 5
c.2223_2224delinsG Multiple submitters hereditary neoplastic syndrome
c.3249_3253delinsAGCC Multiple submitters hereditary neoplastic syndrome
p.Ala1025fs Multiple submitters hereditary neoplastic syndrome
p.Ala1057fs Multiple submitters hereditary neoplastic syndrome
p.Ala1063fs Multiple submitters hereditary neoplastic syndrome
p.Ala406_Glu407insTer Multiple submitters hereditary neoplastic syndrome
p.Ala406fs Multiple submitters hereditary neoplastic syndrome
p.Ala587fs Multiple submitters hereditary neoplastic syndrome
p.Ala736fs Multiple submitters hereditary neoplastic syndrome
p.Arg1086fs Multiple submitters hereditary neoplastic syndrome
p.Arg146fs Multiple submitters hereditary breast carcinoma
p.Arg153fs Multiple submitters hereditary breast carcinoma
p.Arg170fs Multiple submitters Breast and/or ovarian cancer
p.Arg175fs Multiple submitters hereditary neoplastic syndrome
p.Arg238Ter Multiple submitters hereditary neoplastic syndrome
p.Arg239fs Multiple submitters hereditary breast carcinoma
p.Arg282fs Multiple submitters hereditary neoplastic syndrome
p.Arg40fs Multiple submitters hereditary breast carcinoma
p.Arg464fs Multiple submitters hereditary neoplastic syndrome
p.Arg476fs Multiple submitters hereditary breast carcinoma
p.Arg476Ter Multiple submitters hereditary neoplastic syndrome
p.Arg566fs Multiple submitters hereditary neoplastic syndrome
p.Arg686fs Multiple submitters Inherited breast cancer and ovarian cancer
p.Arg718fs Multiple submitters hereditary breast carcinoma
p.Arg753Ter Multiple submitters PALB2-related disorder
p.Arg879Ter Multiple submitters hereditary neoplastic syndrome
p.Arg975fs Multiple submitters hereditary breast carcinoma
p.Asn1179_Tyr1183delinsLysMetTer Multiple submitters hereditary breast carcinoma
p.Asn280fs Multiple submitters hereditary breast carcinoma
p.Asn330Ter Multiple submitters hereditary neoplastic syndrome
p.Asn344fs Multiple submitters hereditary breast carcinoma
p.Asn349fs Multiple submitters hereditary neoplastic syndrome
p.Asn444fs Multiple submitters hereditary neoplastic syndrome
p.Asn497fs Multiple submitters hereditary breast carcinoma
p.Asn540fs Multiple submitters Inherited breast cancer and ovarian cancer
p.Asn74fs Multiple submitters hereditary breast carcinoma
p.Asn854fs Multiple submitters hereditary breast carcinoma
p.Asp1053fs Multiple submitters hereditary neoplastic syndrome
p.Asp161fs Multiple submitters prostate cancer, hereditary
p.Asp219fs Multiple submitters hereditary neoplastic syndrome
p.Asp360fs Multiple submitters hereditary breast carcinoma
p.Asp586fs Multiple submitters hereditary neoplastic syndrome
p.Asp62fs Multiple submitters hereditary neoplastic syndrome
p.Asp715fs Multiple submitters hereditary neoplastic syndrome
p.Asp89fs Multiple submitters hereditary neoplastic syndrome
p.Cys11fs Multiple submitters hereditary neoplastic syndrome
p.Cys396fs Multiple submitters hereditary neoplastic syndrome
p.Cys396Ter Multiple submitters hereditary neoplastic syndrome
p.Cys520Ter Multiple submitters PALB2-related cancer predisposition
p.Cys768fs Multiple submitters hereditary neoplastic syndrome
p.Cys77fs Multiple submitters PALB2-related cancer predisposition
p.Cys802_Asp803delinsTer Multiple submitters hereditary breast carcinoma
p.Cys824fs Multiple submitters Inherited breast cancer and ovarian cancer
p.Cys828fs Multiple submitters hereditary neoplastic syndrome
p.Cys868_Asp871delinsTer Multiple submitters hereditary breast carcinoma
p.Cys882fs Multiple submitters hereditary breast carcinoma
p.Cys886fs Multiple submitters hereditary neoplastic syndrome
p.Cys891Ter Multiple submitters hereditary breast carcinoma
p.Gln1004Ter Multiple submitters hereditary neoplastic syndrome
p.Gln1020Ter Multiple submitters hereditary neoplastic syndrome
p.Gln1044fs Multiple submitters hereditary breast carcinoma
p.Gln1056Ter Multiple submitters hereditary neoplastic syndrome
p.Gln1146Ter Multiple submitters hereditary breast carcinoma
p.Gln1175Ter Multiple submitters hereditary neoplastic syndrome
p.Gln119fs Multiple submitters breast-ovarian cancer, familial, susceptibility to, 5
p.Gln141fs Multiple submitters hereditary neoplastic syndrome
p.Gln151Ter Multiple submitters hereditary neoplastic syndrome
p.Gln179Ter Multiple submitters hereditary neoplastic syndrome
p.Gln228fs Multiple submitters hereditary neoplastic syndrome
p.Gln251Ter Multiple submitters pancreatic cancer, susceptibility to, 3
p.Gln260Ter Multiple submitters hereditary neoplastic syndrome
p.Gln292Ter Multiple submitters hereditary breast ovarian cancer syndrome
p.Gln343Ter Multiple submitters hereditary neoplastic syndrome
p.Gln348fs Multiple submitters hereditary neoplastic syndrome
p.Gln348Ter Multiple submitters breast-ovarian cancer, familial, susceptibility to, 5
p.Gln350Ter Multiple submitters hereditary breast carcinoma
p.Gln36Ter Multiple submitters hereditary neoplastic syndrome
p.Gln370Ter Multiple submitters hereditary neoplastic syndrome
p.Gln39Ter Multiple submitters hereditary breast carcinoma
p.Gln420Ter Multiple submitters hereditary neoplastic syndrome
p.Gln460Ter Multiple submitters hereditary breast carcinoma
p.Gln472Ter Multiple submitters hereditary neoplastic syndrome
p.Gln479Ter Multiple submitters hereditary breast carcinoma
p.Gln552Ter Multiple submitters hereditary breast carcinoma
p.Gln559fs Multiple submitters autosomal dominant PALB2-related cancer predisposition
p.Gln559Ter Multiple submitters hereditary neoplastic syndrome
p.Gln55Ter Multiple submitters hereditary neoplastic syndrome
p.Gln568fs Multiple submitters hereditary neoplastic syndrome
p.Gln568Ter Multiple submitters hereditary breast carcinoma
p.Gln613Ter Multiple submitters hereditary neoplastic syndrome
p.Gln61Ter Multiple submitters hereditary breast carcinoma
p.Gln690Ter Multiple submitters hereditary neoplastic syndrome
p.Gln740fs Multiple submitters hereditary neoplastic syndrome
p.Gln759Ter Multiple submitters hereditary neoplastic syndrome
p.Gln775Ter Multiple submitters hereditary breast carcinoma
p.Gln795Ter Multiple submitters hereditary neoplastic syndrome
p.Gln797fs Multiple submitters hereditary neoplastic syndrome
p.Gln822Ter Multiple submitters hereditary neoplastic syndrome
p.Gln838fs Multiple submitters hereditary neoplastic syndrome
p.Gln921fs Multiple submitters hereditary neoplastic syndrome
p.Gln921Ter Multiple submitters hereditary neoplastic syndrome
p.Gln988_Val989insTer Multiple submitters PALB2-related cancer predisposition
p.Gln988Ter Multiple submitters hereditary neoplastic syndrome
p.Glu1002fs Multiple submitters hereditary neoplastic syndrome
p.Glu1010fs Multiple submitters breast-ovarian cancer, familial, susceptibility to, 5
p.Glu1010Ter Multiple submitters hereditary neoplastic syndrome
p.Glu1081_Ser1082insTer Multiple submitters hereditary neoplastic syndrome
p.Glu1081Ter Multiple submitters hereditary neoplastic syndrome
p.Glu1120Ter Multiple submitters hereditary breast carcinoma
p.Glu12fs Multiple submitters hereditary neoplastic syndrome
p.Glu13Ter Multiple submitters hereditary breast carcinoma
p.Glu159Ter Multiple submitters hereditary breast carcinoma
p.Glu15Ter Multiple submitters breast-ovarian cancer, familial, susceptibility to, 5
p.Glu181Ter Multiple submitters hereditary neoplastic syndrome
p.Glu194fs Multiple submitters hereditary neoplastic syndrome
p.Glu215Ter Multiple submitters breast neoplasm
p.Glu218Ter Multiple submitters hereditary neoplastic syndrome
p.Glu230Ter Multiple submitters hereditary neoplastic syndrome
p.Glu263fs Multiple submitters hereditary neoplastic syndrome
p.Glu290Ter Multiple submitters hereditary breast carcinoma
p.Glu331Ter Multiple submitters hereditary breast carcinoma
p.Glu341Ter Multiple submitters hereditary neoplastic syndrome
p.Glu347Ter Multiple submitters Inherited breast cancer and ovarian cancer
p.Glu373Ter Multiple submitters hereditary neoplastic syndrome
p.Glu456Ter Multiple submitters hereditary neoplastic syndrome
p.Glu457fs Multiple submitters hereditary neoplastic syndrome
p.Glu457Ter Multiple submitters hereditary breast carcinoma
p.Glu545Ter Multiple submitters breast-ovarian cancer, familial, susceptibility to, 5
p.Glu554fs Multiple submitters hereditary neoplastic syndrome
p.Glu625fs Multiple submitters hereditary neoplastic syndrome
p.Glu639Ter Multiple submitters hereditary breast carcinoma
p.Glu658fs Multiple submitters hereditary neoplastic syndrome
p.Glu658Ter Multiple submitters hereditary neoplastic syndrome
p.Glu669fs Multiple submitters hereditary neoplastic syndrome
p.Glu672fs Multiple submitters hereditary breast carcinoma
p.Glu673fs Multiple submitters hereditary neoplastic syndrome
p.Glu673Ter Multiple submitters hereditary neoplastic syndrome
p.Glu814fs Multiple submitters hereditary neoplastic syndrome
p.Glu837Ter Multiple submitters hereditary neoplastic syndrome
p.Glu840fs Multiple submitters hereditary neoplastic syndrome
p.Glu860Ter Multiple submitters hereditary neoplastic syndrome
p.Glu878Ter Multiple submitters hereditary breast carcinoma
p.Glu884Ter Multiple submitters breast-ovarian cancer, familial, susceptibility to, 5
p.Glu892Ter Multiple submitters autosomal dominant PALB2-related cancer predisposition
p.Glu90Ter Multiple submitters hereditary neoplastic syndrome
p.Glu943fs Multiple submitters hereditary breast carcinoma
p.Glu94Ter Multiple submitters hereditary neoplastic syndrome
p.Glu954Ter Multiple submitters hereditary breast carcinoma
p.Glu990Ter Multiple submitters breast-ovarian cancer, familial, susceptibility to, 5
p.Gly1000fs Multiple submitters hereditary breast carcinoma
p.Gly1104fs Multiple submitters hereditary neoplastic syndrome
p.Gly1116fs Multiple submitters hereditary breast carcinoma
p.Gly115Ter Multiple submitters hereditary neoplastic syndrome
p.Gly467fs Multiple submitters hereditary neoplastic syndrome
p.Gly471fs Multiple submitters hereditary breast carcinoma
p.Gly596Ter Multiple submitters hereditary breast carcinoma
p.Gly620Ter Multiple submitters hereditary breast carcinoma
p.Gly732fs Multiple submitters hereditary neoplastic syndrome
p.Gly866fs Multiple submitters hereditary breast carcinoma
p.Gly999Ter Multiple submitters hereditary neoplastic syndrome
p.His1050_Ile1051insTer Multiple submitters hereditary breast carcinoma
p.His276fs Multiple submitters hereditary neoplastic syndrome
p.His394fs Multiple submitters hereditary neoplastic syndrome
p.His432fs Multiple submitters PALB2-related disorder
p.His46fs Multiple submitters hereditary neoplastic syndrome
p.His549fs Multiple submitters hereditary neoplastic syndrome
p.His693fs Multiple submitters hereditary breast carcinoma
p.His762fs Multiple submitters hereditary neoplastic syndrome
p.His83fs Multiple submitters hereditary neoplastic syndrome
p.Ile1013fs Multiple submitters hereditary neoplastic syndrome
p.Ile1072fs Multiple submitters hereditary neoplastic syndrome
p.Ile182fs Multiple submitters hereditary breast carcinoma
p.Ile216fs Multiple submitters hereditary neoplastic syndrome
p.Ile429fs Multiple submitters breast-ovarian cancer, familial, susceptibility to, 5
p.Ile558fs Multiple submitters hereditary breast carcinoma
p.Ile609fs Multiple submitters hereditary breast carcinoma
p.Ile730fs Multiple submitters hereditary breast carcinoma
p.Ile941fs Multiple submitters hereditary breast carcinoma
p.Leu1006fs Multiple submitters hereditary neoplastic syndrome
p.Leu1027fs Multiple submitters hereditary neoplastic syndrome
p.Leu1101fs Multiple submitters hereditary neoplastic syndrome
p.Leu1132Ter Multiple submitters hereditary neoplastic syndrome
p.Leu1142fs Multiple submitters breast-ovarian cancer, familial, susceptibility to, 5
p.Leu1143fs Multiple submitters hereditary neoplastic syndrome
p.Leu116Ter Multiple submitters breast-ovarian cancer, familial, susceptibility to, 5
p.Leu171Ter Multiple submitters hereditary breast carcinoma
p.Leu176fs Multiple submitters hereditary breast carcinoma
p.Leu199_Leu200insTer Multiple submitters hereditary neoplastic syndrome
p.Leu199fs Multiple submitters hereditary breast carcinoma
p.Leu222Ter Multiple submitters hereditary breast carcinoma
p.Leu253_Ser254insTer Multiple submitters hereditary neoplastic syndrome
p.Leu253fs Multiple submitters breast-ovarian cancer, familial, susceptibility to, 5
p.Leu315fs Multiple submitters hereditary breast carcinoma
p.Leu321Ter Multiple submitters hereditary breast carcinoma
p.Leu329fs Multiple submitters hereditary neoplastic syndrome
p.Leu332fs Multiple submitters hereditary breast carcinoma
p.Leu337fs Multiple submitters hereditary breast carcinoma
p.Leu337Ter Multiple submitters hereditary neoplastic syndrome
p.Leu355fs Multiple submitters hereditary neoplastic syndrome
p.Leu362fs Multiple submitters hereditary neoplastic syndrome
p.Leu369fs Multiple submitters hereditary breast carcinoma
p.Leu381fs Multiple submitters hereditary neoplastic syndrome
p.Leu403fs Multiple submitters hereditary neoplastic syndrome
p.Leu451fs Multiple submitters hereditary neoplastic syndrome
p.Leu481fs Multiple submitters hereditary neoplastic syndrome
p.Leu600Ter Multiple submitters hereditary neoplastic syndrome
p.Leu603fs Multiple submitters hereditary breast carcinoma
p.Leu659fs Multiple submitters hereditary neoplastic syndrome
p.Leu678fs Multiple submitters hereditary neoplastic syndrome
p.Leu698fs Multiple submitters hereditary breast carcinoma
p.Leu703Ter Multiple submitters hereditary breast carcinoma
p.Leu708Ter Multiple submitters hereditary neoplastic syndrome
p.Leu760_Ala761insTer Multiple submitters hereditary neoplastic syndrome
p.Leu855fs Multiple submitters hereditary breast carcinoma
p.Leu939fs Multiple submitters hereditary neoplastic syndrome
p.Leu960fs Multiple submitters hereditary neoplastic syndrome
p.Leu972fs Multiple submitters hereditary neoplastic syndrome
p.Lys1048fs Multiple submitters breast neoplasm
p.Lys140fs Multiple submitters hereditary neoplastic syndrome
p.Lys142fs Multiple submitters hereditary breast carcinoma
p.Lys142Ter Multiple submitters PALB2-related disorder
p.Lys148fs Multiple submitters hereditary neoplastic syndrome
p.Lys149fs Multiple submitters hereditary breast carcinoma
p.Lys174fs Multiple submitters hereditary neoplastic syndrome
p.Lys25Ter Multiple submitters hereditary neoplastic syndrome
p.Lys294Ter Multiple submitters hereditary neoplastic syndrome
p.Lys295_Met296insTer Multiple submitters hereditary neoplastic syndrome
p.Lys30fs Multiple submitters hereditary neoplastic syndrome
p.Lys311fs Multiple submitters hereditary breast carcinoma
p.Lys346fs Multiple submitters breast-ovarian cancer, familial, susceptibility to, 5
p.Lys353fs Multiple submitters hereditary breast carcinoma
p.Lys356fs Multiple submitters hereditary breast carcinoma
p.Lys379Ter Multiple submitters hereditary breast carcinoma
p.Lys441Ter Multiple submitters hereditary neoplastic syndrome
p.Lys443Ter Multiple submitters hereditary neoplastic syndrome
p.Lys480Ter Multiple submitters breast-ovarian cancer, familial, susceptibility to, 5
p.Lys515Ter Multiple submitters hereditary neoplastic syndrome
p.Lys517fs Multiple submitters hereditary breast carcinoma
p.Lys550Ter Multiple submitters hereditary neoplastic syndrome
p.Lys563fs Multiple submitters hereditary neoplastic syndrome
p.Lys628Ter Multiple submitters hereditary breast carcinoma
p.Lys649Ter Multiple submitters hereditary breast carcinoma
p.Lys662Ter Multiple submitters hereditary neoplastic syndrome
p.Lys68fs Multiple submitters hereditary neoplastic syndrome
p.Lys695Ter Multiple submitters hereditary breast carcinoma
p.Lys833fs Multiple submitters hereditary neoplastic syndrome
p.Lys974fs Multiple submitters hereditary neoplastic syndrome
p.Met296fs Multiple submitters hereditary neoplastic syndrome
p.Met416fs Multiple submitters hereditary neoplastic syndrome
p.Met465fs Multiple submitters hereditary breast carcinoma
p.Met597fs Multiple submitters hereditary breast carcinoma
p.Met642fs Multiple submitters hereditary breast carcinoma
p.Met664fs Multiple submitters hereditary breast carcinoma
p.Met723fs Multiple submitters Inherited breast cancer and ovarian cancer
p.Phe1005_Leu1006insTer Multiple submitters hereditary neoplastic syndrome
p.Phe107fs Multiple submitters hereditary breast carcinoma
p.Phe1090fs Multiple submitters hereditary neoplastic syndrome
p.Phe404fs Multiple submitters hereditary breast carcinoma
p.Phe606fs Multiple submitters hereditary neoplastic syndrome
p.Phe619fs Multiple submitters hereditary neoplastic syndrome
p.Phe728fs Multiple submitters hereditary neoplastic syndrome
p.Phe776fs Multiple submitters PALB2-related disorder
p.Pro1009_Glu1010insTer Multiple submitters hereditary neoplastic syndrome
p.Pro1009fs Multiple submitters hereditary neoplastic syndrome
p.Pro104fs Multiple submitters hereditary neoplastic syndrome
p.Pro109fs Multiple submitters hereditary neoplastic syndrome
p.Pro1111fs Multiple submitters hereditary breast carcinoma
p.Pro1153fs Multiple submitters PALB2-related disorder
p.Pro135_Ser136insTer Multiple submitters hereditary breast carcinoma
p.Pro207fs Multiple submitters hereditary neoplastic syndrome
p.Pro212fs Multiple submitters hereditary breast carcinoma
p.Pro316fs Multiple submitters hereditary breast carcinoma
p.Pro358fs Multiple submitters hereditary neoplastic syndrome
p.Pro378fs Multiple submitters hereditary breast carcinoma
p.Pro388fs Multiple submitters hereditary neoplastic syndrome
p.Pro5fs Multiple submitters hereditary neoplastic syndrome
p.Pro656fs Multiple submitters hereditary neoplastic syndrome
p.Pro707fs Multiple submitters Breast cancer, susceptibility to
p.Pro924fs Multiple submitters hereditary breast carcinoma
p.Ser1065fs Multiple submitters hereditary neoplastic syndrome
p.Ser1082fs Multiple submitters hereditary neoplastic syndrome
p.Ser168fs Multiple submitters hereditary neoplastic syndrome
p.Ser168Ter Multiple submitters hereditary neoplastic syndrome
p.Ser184fs Multiple submitters hereditary neoplastic syndrome
p.Ser254Ter Multiple submitters hereditary neoplastic syndrome
p.Ser285Ter Multiple submitters hereditary neoplastic syndrome
p.Ser299fs Multiple submitters hereditary neoplastic syndrome
p.Ser312fs Multiple submitters hereditary breast carcinoma
p.Ser318_Ser319insTer Multiple submitters hereditary neoplastic syndrome
p.Ser318fs Multiple submitters hereditary neoplastic syndrome

Pathogenic/Likely pathogenic 199

c.108+1G>A Multiple submitters Breast cancer, susceptibility to
c.108+2T>G Multiple submitters hereditary breast carcinoma
c.109-1G>A Multiple submitters breast-ovarian cancer, familial, susceptibility to, 5
c.109-2A>G Multiple submitters hereditary neoplastic syndrome
c.1685-1G>C Multiple submitters hereditary neoplastic syndrome
c.1686del Multiple submitters hereditary neoplastic syndrome
c.211+1G>T Multiple submitters hereditary breast ovarian cancer syndrome
c.2515-1G>C Multiple submitters hereditary neoplastic syndrome
c.2515-1G>T Multiple submitters hereditary neoplastic syndrome
c.2586+1G>A Multiple submitters hereditary breast carcinoma
c.2587-?_2748+?del Multiple submitters hereditary neoplastic syndrome
c.2747_2748+4del Multiple submitters Fanconi anemia complementation group N
c.2748+1G>A Multiple submitters pancreatic cancer, susceptibility to, 3
c.2748+1G>C Multiple submitters breast-ovarian cancer, familial, susceptibility to, 5
c.2748+1G>T Multiple submitters hereditary neoplastic syndrome
c.2834+1G>A Multiple submitters hereditary neoplastic syndrome
c.2834+1G>C Multiple submitters hereditary neoplastic syndrome
c.2834+1G>T Multiple submitters hereditary neoplastic syndrome
c.2834+2T>A Multiple submitters hereditary neoplastic syndrome
c.2834+2T>C Multiple submitters breast-ovarian cancer, familial, susceptibility to, 5
c.2835-1G>A Multiple submitters PALB2-related disorder
c.2835-1G>C Multiple submitters PALB2-related cancer predisposition
c.3113+5G>C Multiple submitters PALB2-related cancer predisposition
c.3114-1G>A Multiple submitters hereditary neoplastic syndrome
c.3201+1G>A Multiple submitters hereditary neoplastic syndrome
c.3201+1G>C Multiple submitters hereditary neoplastic syndrome
c.3201+1G>T Multiple submitters hereditary neoplastic syndrome
c.3202-1G>A Multiple submitters hereditary neoplastic syndrome
c.3202-1G>C Multiple submitters hereditary neoplastic syndrome
c.3202-2A>C Multiple submitters hereditary breast carcinoma
c.3202-2A>G Multiple submitters hereditary breast carcinoma
c.3350+1G>A Multiple submitters hereditary neoplastic syndrome
c.3350+5G>A Multiple submitters breast-ovarian cancer, familial, susceptibility to, 5
c.3351-1G>A Multiple submitters pancreatic cancer, susceptibility to, 3
c.3351-1G>C Multiple submitters hereditary neoplastic syndrome
c.3351-2A>G Multiple submitters hereditary neoplastic syndrome
c.48+1G>A Multiple submitters hereditary breast carcinoma
c.48+1G>T Multiple submitters hereditary breast carcinoma
p.Ala245fs Multiple submitters hereditary breast carcinoma
p.Ala761fs Multiple submitters hereditary breast carcinoma
p.Ala995fs Multiple submitters hereditary breast carcinoma
p.Arg1086Ter Multiple submitters pancreatic cancer, susceptibility to, 3
p.Arg26fs Multiple submitters pancreatic cancer, susceptibility to, 3
p.Arg414Ter Multiple submitters autosomal dominant PALB2-related cancer predisposition
p.Arg516fs Multiple submitters hereditary breast carcinoma
p.Arg945fs Multiple submitters hereditary neoplastic syndrome
p.Asn1039fs Multiple submitters PALB2-related cancer predisposition
p.Asn821fs Multiple submitters hereditary breast carcinoma
p.Asn851fs Multiple submitters hereditary neoplastic syndrome
p.Asp1125fs Multiple submitters hereditary neoplastic syndrome
p.Asp167fs Multiple submitters hereditary neoplastic syndrome
p.Asp496fs Multiple submitters hereditary neoplastic syndrome
p.Asp585fs Multiple submitters hereditary neoplastic syndrome
p.Asp595fs Multiple submitters hereditary neoplastic syndrome
p.Asp616fs Multiple submitters hereditary breast carcinoma
p.Asp674fs Multiple submitters hereditary breast carcinoma
p.Cys1060Ter Multiple submitters hereditary breast carcinoma
p.Cys1078Ter Multiple submitters hereditary breast carcinoma
p.Cys1147Ter Multiple submitters hereditary neoplastic syndrome
p.Cys802fs Multiple submitters hereditary breast carcinoma
p.Gln1023Ter Multiple submitters hereditary neoplastic syndrome
p.Gln1044Ter Multiple submitters hereditary neoplastic syndrome
p.Gln1091Ter Multiple submitters breast-ovarian cancer, familial, susceptibility to, 5
p.Gln1114Ter Multiple submitters hereditary breast carcinoma
p.Gln1157Ter Multiple submitters hereditary breast carcinoma
p.Gln125Ter Multiple submitters Inherited breast cancer and ovarian cancer
p.Gln141Ter Multiple submitters hereditary neoplastic syndrome
p.Gln158Ter Multiple submitters hereditary neoplastic syndrome
p.Gln260fs Multiple submitters hereditary breast carcinoma
p.Gln314Ter Multiple submitters hereditary neoplastic syndrome
p.Gln377Ter Multiple submitters hereditary neoplastic syndrome
p.Gln430Ter Multiple submitters hereditary breast carcinoma
p.Gln479fs Multiple submitters hereditary neoplastic syndrome
p.Gln559_Val560insTer Multiple submitters hereditary neoplastic syndrome
p.Gln602Ter Multiple submitters hereditary neoplastic syndrome
p.Gln60fs Multiple submitters Fanconi anemia complementation group N
p.Gln60Ter Multiple submitters hereditary breast carcinoma
p.Gln66Ter Multiple submitters Fanconi anemia complementation group N
p.Gln740Ter Multiple submitters hereditary neoplastic syndrome
p.Gln790Ter Multiple submitters hereditary neoplastic syndrome
p.Gln797Ter Multiple submitters hereditary neoplastic syndrome
p.Gln829Ter Multiple submitters hereditary breast carcinoma
p.Gln838Ter Multiple submitters hereditary breast ovarian cancer syndrome
p.Gln856Ter Multiple submitters hereditary breast carcinoma
p.Gln958Ter Multiple submitters hereditary breast carcinoma
p.Gln987Ter Multiple submitters PALB2-related disorder
p.Glu1002Ter Multiple submitters hereditary breast carcinoma
p.Glu105fs Multiple submitters hereditary breast carcinoma
p.Glu1083fs Multiple submitters hereditary breast carcinoma
p.Glu178Ter Multiple submitters hereditary breast carcinoma
p.Glu180Ter Multiple submitters hereditary neoplastic syndrome
p.Glu263Ter Multiple submitters PALB2-related disorder
p.Glu27Ter Multiple submitters PALB2-related disorder
p.Glu347fs Multiple submitters hereditary breast carcinoma
p.Glu373fs Multiple submitters hereditary neoplastic syndrome
p.Glu462Ter Multiple submitters hereditary neoplastic syndrome
p.Glu53fs Multiple submitters Inherited breast cancer and ovarian cancer
p.Glu650fs Multiple submitters Breast and/or ovarian cancer
p.Glu749Ter Multiple submitters pancreatic cancer, susceptibility to, 3
p.Glu830fs Multiple submitters PALB2-related disorder
p.Glu843fs Multiple submitters hereditary neoplastic syndrome
p.Glu907fs Multiple submitters hereditary neoplastic syndrome
p.Glu956Ter Multiple submitters hereditary neoplastic syndrome
p.Glu996Ter Multiple submitters hereditary neoplastic syndrome
p.Gly232fs Multiple submitters hereditary neoplastic syndrome
p.Gly257fs Multiple submitters hereditary breast carcinoma
p.Gly6= Multiple submitters hereditary neoplastic syndrome
p.Gly680Ter Multiple submitters hereditary breast carcinoma
p.Gly796Ter Multiple submitters hereditary neoplastic syndrome
p.His1170fs Multiple submitters PALB2-related disorder
p.His276_Asp277insTer Multiple submitters hereditary breast ovarian cancer syndrome
p.His762_Leu763insTer Multiple submitters hereditary neoplastic syndrome
p.Ile156fs Multiple submitters hereditary neoplastic syndrome
p.Ile281fs Multiple submitters hereditary breast carcinoma
p.Ile76fs Multiple submitters Breast cancer, susceptibility to
p.Leu1014fs Multiple submitters hereditary neoplastic syndrome
p.Leu1026fs Multiple submitters hereditary neoplastic syndrome
p.Leu1132fs Multiple submitters hereditary neoplastic syndrome
p.Leu1142Ter Multiple submitters hereditary breast carcinoma
p.Leu237fs Multiple submitters hereditary neoplastic syndrome
p.Leu24fs Multiple submitters hereditary neoplastic syndrome
p.Leu32fs Multiple submitters pancreatic cancer, susceptibility to, 3
p.Leu389fs Multiple submitters hereditary breast carcinoma
p.Leu484Ter Multiple submitters hereditary neoplastic syndrome
p.Leu499Ter Multiple submitters hereditary breast carcinoma
p.Leu671Ter Multiple submitters hereditary neoplastic syndrome
p.Leu703fs Multiple submitters hereditary breast carcinoma
p.Leu731Ter Multiple submitters hereditary neoplastic syndrome
p.Leu88fs Multiple submitters hereditary breast carcinoma
p.Leu920Ter Multiple submitters hereditary neoplastic syndrome
p.Lys1080fs Multiple submitters hereditary neoplastic syndrome
p.Lys14Ter Multiple submitters breast-ovarian cancer, familial, susceptibility to, 5
p.Lys152Ter Multiple submitters PALB2-related disorder
p.Lys16= Multiple submitters hereditary neoplastic syndrome
p.Lys20fs Multiple submitters hereditary neoplastic syndrome
p.Lys20Ter Multiple submitters hereditary breast carcinoma
p.Lys268fs Multiple submitters hereditary breast ovarian cancer syndrome
p.Lys311Ter Multiple submitters hereditary breast carcinoma
p.Lys393fs Multiple submitters hereditary breast carcinoma
p.Lys550fs Multiple submitters hereditary breast carcinoma
p.Lys569fs Multiple submitters hereditary breast carcinoma
p.Lys75fs Multiple submitters hereditary neoplastic syndrome
p.Lys75Ter Multiple submitters hereditary neoplastic syndrome
p.Lys784Ter Multiple submitters hereditary neoplastic syndrome
p.Lys819fs Multiple submitters hereditary breast carcinoma
p.Lys862fs Multiple submitters hereditary breast carcinoma
p.Lys957fs Multiple submitters hereditary breast carcinoma
p.Lys95Ter Multiple submitters PALB2-related disorder
p.Met1022fs Multiple submitters hereditary neoplastic syndrome
p.Met1Arg Multiple submitters hereditary neoplastic syndrome
p.Met1Thr Multiple submitters hereditary neoplastic syndrome
p.Met1Val Multiple submitters hereditary neoplastic syndrome
p.Met992fs Multiple submitters hereditary neoplastic syndrome
p.Phe1016fs Multiple submitters hereditary neoplastic syndrome
p.Phe1161fs Multiple submitters hereditary neoplastic syndrome
p.Pro338fs Multiple submitters hereditary neoplastic syndrome
p.Pro490fs Multiple submitters hereditary breast carcinoma
p.Pro522fs Multiple submitters hereditary breast carcinoma
p.Pro661fs Multiple submitters hereditary breast carcinoma
p.Pro785fs Multiple submitters hereditary neoplastic syndrome
p.Pro811fs Multiple submitters hereditary breast carcinoma
p.Ser1165Ter Multiple submitters hereditary breast carcinoma
p.Ser201fs Multiple submitters hereditary neoplastic syndrome
p.Ser254fs Multiple submitters pancreatic cancer, susceptibility to, 3
p.Ser288fs Multiple submitters hereditary neoplastic syndrome
p.Ser376fs Multiple submitters hereditary neoplastic syndrome
p.Ser380_Leu381insTer Multiple submitters hereditary breast carcinoma
p.Ser395fs Multiple submitters hereditary breast carcinoma
p.Ser475Ter Multiple submitters hereditary breast carcinoma
p.Ser518Ter Multiple submitters PALB2-related disorder
p.Ser537Ter Multiple submitters hereditary breast carcinoma
p.Ser548fs Multiple submitters Inherited breast cancer and ovarian cancer
p.Ser572fs Multiple submitters hereditary breast carcinoma
p.Ser576Glufs Multiple submitters hereditary breast carcinoma
p.Ser792Ter Multiple submitters hereditary neoplastic syndrome
p.Ser859fs Multiple submitters hereditary neoplastic syndrome
p.Ser869_Val870insTer Multiple submitters breast-ovarian cancer, familial, susceptibility to, 5
p.Ser896fs Multiple submitters hereditary neoplastic syndrome
p.Ser980fs Multiple submitters pancreatic cancer, susceptibility to, 3
p.Thr1042fs Multiple submitters hereditary neoplastic syndrome
p.Thr1133fs Multiple submitters hereditary breast carcinoma
p.Thr235fs Multiple submitters hereditary breast carcinoma
p.Thr513fs Multiple submitters hereditary neoplastic syndrome
p.Thr911fs Multiple submitters Inherited ovarian cancer (without breast cancer)
p.Trp1140Ter Multiple submitters hereditary neoplastic syndrome
p.Trp1164Ter Multiple submitters hereditary neoplastic syndrome
p.Trp898Ter Multiple submitters hereditary breast carcinoma
p.Trp904Ter Multiple submitters hereditary neoplastic syndrome
p.Trp906Ter Multiple submitters pancreatic cancer, susceptibility to, 3
p.Tyr1108fs Multiple submitters hereditary breast carcinoma
p.Tyr1183Ter Multiple submitters PALB2-related cancer predisposition
p.Tyr408Ter Multiple submitters hereditary neoplastic syndrome
p.Tyr409_Arg411delinsTer Multiple submitters hereditary breast carcinoma
p.Tyr551Ter Multiple submitters breast-ovarian cancer, familial, susceptibility to, 5
p.Tyr743Ter Multiple submitters breast-ovarian cancer, familial, susceptibility to, 5
p.Tyr910Ter Multiple submitters Inherited breast cancer and ovarian cancer
p.Val1103fs Multiple submitters hereditary breast carcinoma
p.Val298fs Multiple submitters Fanconi anemia complementation group N
p.Val627fs Multiple submitters hereditary neoplastic syndrome

Likely pathogenic 159

c.108+1_108+2insC Expert panel PALB2-related cancer predisposition
c.3350+4A>G Expert panel PALB2-related cancer predisposition
p.Gln692Ter Expert panel PALB2-related cancer predisposition
p.Gly1121fs Expert panel PALB2-related cancer predisposition
p.Gly853= Expert panel PALB2-related cancer predisposition
c.109-2A>T Multiple submitters hereditary breast carcinoma
c.1684+1G>T Multiple submitters hereditary neoplastic syndrome
c.211+1G>A Multiple submitters hereditary breast carcinoma
c.2514+1G>A Multiple submitters hereditary neoplastic syndrome
c.2514+1G>C Multiple submitters hereditary neoplastic syndrome
c.2514+1G>T Multiple submitters hereditary breast carcinoma
c.2515-17_2522del Multiple submitters hereditary breast carcinoma
c.2515-1G>A Multiple submitters pancreatic cancer, susceptibility to, 3
c.2586+1_2586+2delinsTA Multiple submitters hereditary neoplastic syndrome
c.2748+2T>C Multiple submitters hereditary breast carcinoma
c.2749-1G>C Multiple submitters hereditary neoplastic syndrome
c.2749-1G>T Multiple submitters hereditary breast carcinoma
c.2749-2A>C Multiple submitters hereditary breast carcinoma
c.2749-2A>G Multiple submitters hereditary neoplastic syndrome
c.2835-2A>C Multiple submitters hereditary neoplastic syndrome
c.2835-2A>G Multiple submitters hereditary breast carcinoma
c.2996+1G>T Multiple submitters hereditary breast carcinoma
c.2996+2T>C Multiple submitters hereditary neoplastic syndrome
c.2997-1G>C Multiple submitters hereditary neoplastic syndrome
c.3113+1G>A Multiple submitters hereditary breast carcinoma
c.3113+1G>C Multiple submitters hereditary neoplastic syndrome
c.3113+5G>A Multiple submitters hereditary neoplastic syndrome
c.3114-2A>G Multiple submitters hereditary breast carcinoma
c.3201+1del Multiple submitters hereditary neoplastic syndrome
c.3350+1G>C Multiple submitters hereditary breast carcinoma
c.3350+2C>A Multiple submitters hereditary neoplastic syndrome
c.3350+2C>G Multiple submitters hereditary neoplastic syndrome
c.3350+4A>C Multiple submitters hereditary neoplastic syndrome
c.9_48+118del Multiple submitters hereditary neoplastic syndrome
p.Gln1175fs Multiple submitters breast cancer
p.Glu205Ter Multiple submitters
p.Lys16Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Tyr1108Ter Multiple submitters hereditary neoplastic syndrome
c.108+1G>C Single submitter hereditary neoplastic syndrome
c.108+2_108+12delinsCGGC Single submitter hereditary neoplastic syndrome
c.108+2T>C Single submitter hereditary breast carcinoma
c.109-2A>C Single submitter hereditary neoplastic syndrome
c.1246_1247insALU Single submitter hereditary neoplastic syndrome
c.1356_2586+201del Single submitter hereditary breast carcinoma
c.1684+1G>C Single submitter
c.1685-?_2748+?dup Single submitter hereditary breast carcinoma
c.1685-3_1685-2insCTTATTTTTCTTCTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCGATCTCCTGACCTCGCGATCCGACCACCTCGGCATCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGACCAGCC Single submitter hereditary breast carcinoma
c.1961_1962insALU Single submitter hereditary neoplastic syndrome
c.2080_2081insALU Single submitter hereditary neoplastic syndrome
c.209_211+4del Single submitter hereditary breast carcinoma
c.2098_2099insALU Single submitter hereditary neoplastic syndrome
c.2099_2100insALU Single submitter hereditary neoplastic syndrome
c.211+1G>C Single submitter hereditary breast carcinoma
c.211+2T>C Single submitter hereditary breast carcinoma
c.2454_2455insALU Single submitter hereditary neoplastic syndrome
c.2455_2456insALU Single submitter hereditary neoplastic syndrome
c.2509_2514+9del Single submitter hereditary breast carcinoma
c.2511_2514+6del Single submitter hereditary neoplastic syndrome
c.2514+2T>C Single submitter hereditary breast carcinoma
c.2515-2A>C Single submitter hereditary breast carcinoma
c.2515-2A>G Single submitter hereditary breast ovarian cancer syndrome
c.2586+1_2586+3delinsTTG Single submitter hereditary breast carcinoma
c.2586+860_2749-723del Single submitter
c.2587-1G>A Single submitter hereditary breast carcinoma
c.2587-2del Single submitter hereditary breast carcinoma
c.2748+1_2748+2del Single submitter hereditary neoplastic syndrome
c.2748+1del Single submitter
c.2748+2T>A Single submitter hereditary breast carcinoma
c.2749-1G>A Single submitter hereditary breast carcinoma
c.2749-3_2749-1delinsAA Single submitter hereditary breast carcinoma
c.2832_2834+4del Single submitter breast cancer
c.2835_3113del Single submitter
c.2835-12T>G Single submitter hereditary neoplastic syndrome
c.2835-6_2841del Single submitter hereditary neoplastic syndrome
c.2835-70_2860del Single submitter hereditary breast carcinoma
c.2913_2914insALU Single submitter hereditary neoplastic syndrome
c.2997-2A>T Single submitter hereditary neoplastic syndrome
c.3114-1G>C Single submitter Breast and/or ovarian cancer
c.3114-2A>C Single submitter hereditary neoplastic syndrome
c.3114-?_3201+?dup88 Single submitter hereditary breast carcinoma
c.3114-?_3350+?del Single submitter hereditary breast carcinoma
c.3114-554_3166del Single submitter hereditary neoplastic syndrome
c.3114-57_3120del Single submitter hereditary breast carcinoma
c.3114-795_3201+1238del Single submitter
c.3179_3180insALU Single submitter Fanconi anemia complementation group N
c.3180_3181insALU Single submitter hereditary neoplastic syndrome
c.3201+5G>A Single submitter hereditary neoplastic syndrome
c.3201+5G>T Single submitter hereditary breast ovarian cancer syndrome
c.3202-15_3209del Single submitter hereditary breast carcinoma
c.3202-2_3207del Single submitter hereditary breast carcinoma
c.3202-34_3305del Single submitter hereditary breast carcinoma
c.3350_3350+1delinsC Single submitter hereditary neoplastic syndrome
c.3350+1090_*1278dup Single submitter hereditary breast carcinoma
c.3501_3502ins[PX241361.1:g.1_290] Single submitter hereditary neoplastic syndrome
c.48+1del Single submitter hereditary neoplastic syndrome
c.48+2T>C Single submitter hereditary breast carcinoma
c.48+2T>G Single submitter hereditary neoplastic syndrome
p.Ala1128fs Single submitter
p.Ala308fs Single submitter hereditary neoplastic syndrome
p.Arg131Ter Single submitter hereditary neoplastic syndrome
p.Asp1156fs Single submitter hereditary breast carcinoma
p.Asp777fs Single submitter hereditary breast carcinoma
p.Gln1157fs Single submitter PALB2-related disorder
p.Gln350fs Single submitter
p.Gln55fs Single submitter hereditary breast carcinoma
p.Gln905fs Single submitter PALB2-related disorder
p.Glu617fs Single submitter hereditary breast carcinoma
p.Gly293fs Single submitter PALB2-related disorder
p.His1061fs Single submitter
p.His87fs Single submitter hereditary breast carcinoma
p.Ile1131fs Single submitter breast-ovarian cancer, familial, susceptibility to, 5
p.Ile1180fs Single submitter hereditary breast carcinoma
p.Ile887fs Single submitter breast-ovarian cancer, familial, susceptibility to, 5
p.Leu199delinsGlnTer Single submitter hereditary breast carcinoma
p.Leu345fs Single submitter breast-ovarian cancer, familial, susceptibility to, 1
p.Leu530fs Single submitter PALB2-related disorder
p.Leu984fs Single submitter hereditary neoplastic syndrome
p.Lys311_Ser312insTer Single submitter
p.Lys379fs Single submitter hereditary breast carcinoma
p.Lys45fs Single submitter
p.Lys601fs Single submitter hereditary breast carcinoma
p.Lys649fs Single submitter breast-ovarian cancer, familial, susceptibility to, 5
p.Lys7fs Single submitter hereditary breast carcinoma
p.Met1_Glu3del Single submitter hereditary neoplastic syndrome
p.Met1Ile Single submitter hereditary breast carcinoma
p.Met1Leu Single submitter hereditary neoplastic syndrome
p.Pro1097fs Single submitter hereditary neoplastic syndrome
p.Pro225fs Single submitter
p.Pro758fs Single submitter hereditary breast carcinoma
p.Ser1084Ter Single submitter breast cancer
p.Ser259fs Single submitter
p.Ser288_Leu289insTer Single submitter
p.Ser319fs Single submitter hereditary breast carcinoma
p.Ser483_Leu484insTer Single submitter breast cancer
p.Ser700Ter Single submitter breast-ovarian cancer, familial, susceptibility to, 5
p.Ser873fs Single submitter
p.Thr1030fs Single submitter Fanconi anemia complementation group N
p.Thr193fs Single submitter hereditary breast carcinoma
p.Thr706fs Single submitter hereditary neoplastic syndrome
p.Thr710fs Single submitter
p.Trp1038Ser Single submitter hereditary breast carcinoma
p.Trp1140fs Single submitter hereditary breast carcinoma
p.Val1105fs Single submitter Lynch syndrome 1
p.Val677fs Single submitter
p.Val934_Ala935insTer Single submitter pancreatic cancer, susceptibility to, 3
c.212-2A>T No assertion criteria hereditary breast carcinoma
c.2835-1G>T No assertion criteria hereditary breast carcinoma
c.2996+1del No assertion criteria
c.2997-161_3113+4del No assertion criteria pancreatic cancer, susceptibility to, 3
c.3351-150_*2del No assertion criteria breast cancer
p.Arg464Ter No assertion criteria breast carcinoma
p.Glu1024fs No assertion criteria breast carcinoma
p.Glu639fs No assertion criteria hereditary breast carcinoma
p.Glu645fs No assertion criteria hereditary breast carcinoma
p.Leu1150fs No assertion criteria hereditary breast carcinoma
p.Leu222fs No assertion criteria hereditary breast carcinoma
p.Lys685Ter No assertion criteria PALB2-related disorder
p.Ser574_Trp575insTer No assertion criteria hereditary breast carcinoma
p.Val1059fs No assertion criteria hereditary breast carcinoma

Conflicting classifications of pathogenicity 711

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

c.108+9A>G Single submitter hereditary breast carcinoma
c.109-12T>A Single submitter PALB2-related cancer predisposition
c.109-5T>C Single submitter hereditary neoplastic syndrome
c.1684+11A>G Single submitter hereditary neoplastic syndrome
c.1684+2T>A Single submitter hereditary neoplastic syndrome ⚠
c.1685-10T>C Single submitter hereditary neoplastic syndrome
c.1685-14T>A Single submitter hereditary breast carcinoma
c.1685-1G>A Single submitter hereditary neoplastic syndrome ⚠
c.1685-2A>C Single submitter hereditary breast carcinoma ⚠
c.1685-2A>G Single submitter hereditary breast carcinoma ⚠
c.1685-3T>C Single submitter hereditary neoplastic syndrome
c.1685-5T>G Single submitter hereditary neoplastic syndrome
c.1685-7T>G Single submitter hereditary neoplastic syndrome
c.211+5del Single submitter hereditary neoplastic syndrome
c.212-10del Single submitter PALB2-related cancer predisposition
c.212-1G>A Single submitter hereditary neoplastic syndrome ⚠
c.212-2A>C Single submitter hereditary neoplastic syndrome ⚠
c.212-2A>G Single submitter hereditary neoplastic syndrome ⚠
c.212-3C>T Single submitter hereditary neoplastic syndrome
c.212-5C>T Single submitter hereditary neoplastic syndrome
c.2514+3A>G Single submitter Breast and/or ovarian cancer
c.2514+3dup Single submitter hereditary neoplastic syndrome
c.2514+5A>G Single submitter hereditary breast carcinoma
c.2514+7T>G Single submitter hereditary neoplastic syndrome
c.2514+8C>T Single submitter hereditary breast carcinoma
c.2515-11T>C Single submitter hereditary neoplastic syndrome
c.2515-12_2515-11del Single submitter hereditary breast carcinoma
c.2515-14T>A Single submitter hereditary neoplastic syndrome
c.2515-3C>T Single submitter hereditary neoplastic syndrome
c.2515-7T>G Single submitter hereditary breast carcinoma
c.2586+10A>G Single submitter Breast and/or ovarian cancer
c.2586+30G>A Single submitter hereditary breast ovarian cancer syndrome
c.2586+8G>T Single submitter hereditary neoplastic syndrome
c.2587-15T>C Single submitter hereditary breast carcinoma
c.2587-1G>C Single submitter breast-ovarian cancer, familial, susceptibility to, 5 ⚠
c.2587-2A>C Single submitter hereditary breast carcinoma ⚠
c.2587-7G>A Single submitter hereditary breast carcinoma
c.2587-8T>G Single submitter PALB2-related cancer predisposition
c.2587-9T>C Single submitter hereditary neoplastic syndrome
c.2748+2dup Single submitter hereditary neoplastic syndrome ⚠
c.2748+8G>A Single submitter breast-ovarian cancer, familial, susceptibility to, 5
c.2749-11_2749-7del Single submitter hereditary breast carcinoma
c.2749-15C>G Single submitter hereditary neoplastic syndrome
c.2749-18C>T Single submitter Breast and/or ovarian cancer
c.2749-5T>C Single submitter hereditary breast carcinoma
c.2834+3A>G Single submitter hereditary breast carcinoma
c.2834+5G>A Single submitter hereditary breast carcinoma
c.2835-22dup Single submitter hereditary breast carcinoma
c.2835-3T>C Single submitter hereditary breast carcinoma
c.2835-5C>A Single submitter hereditary breast carcinoma
c.2996+14T>G Single submitter PALB2-related cancer predisposition
c.2996+3A>C Single submitter hereditary neoplastic syndrome
c.2996+5G>T Single submitter PALB2-related cancer predisposition
c.2997-15C>A Single submitter hereditary neoplastic syndrome
c.2997-1G>A Single submitter hereditary neoplastic syndrome ⚠
c.2997-2A>G Single submitter hereditary breast carcinoma ⚠
c.3114-239A>T Single submitter hereditary neoplastic syndrome
c.3114-5C>T Single submitter hereditary breast carcinoma
c.3114-6T>C Single submitter hereditary breast carcinoma
c.3201+2dup Single submitter hereditary neoplastic syndrome ⚠
c.3201+3A>C Single submitter hereditary neoplastic syndrome
c.3201+4A>G Single submitter hereditary neoplastic syndrome
c.3201+5_3201+8del Single submitter hereditary neoplastic syndrome
c.3202-13T>C Single submitter hereditary breast carcinoma
c.3202-4T>C Single submitter hereditary neoplastic syndrome
c.3202-8G>A Single submitter hereditary neoplastic syndrome
c.3202-8G>T Single submitter Breast and/or ovarian cancer
c.3202-9C>A Single submitter hereditary neoplastic syndrome
c.3202-9C>T Single submitter hereditary neoplastic syndrome
c.3350+11A>G Single submitter hereditary breast carcinoma
c.3350+2C>T Single submitter hereditary neoplastic syndrome ⚠
c.3351-10A>T Single submitter hereditary neoplastic syndrome
c.3351-2A>T Single submitter hereditary neoplastic syndrome ⚠
c.3351-7C>T Single submitter hereditary breast carcinoma
c.48+10G>A Single submitter PALB2-related cancer predisposition
c.48+1G>C Single submitter hereditary neoplastic syndrome ⚠
c.48+4C>A Single submitter hereditary breast carcinoma
c.48+7G>C Single submitter hereditary neoplastic syndrome
c.48+8G>C Single submitter hereditary breast carcinoma
c.49-1123C>G Single submitter hereditary neoplastic syndrome
c.49-1G>A Single submitter hereditary breast carcinoma ⚠
c.49-2A>G Single submitter hereditary breast carcinoma ⚠
c.86_108+12dup Single submitter hereditary neoplastic syndrome
c.-10C>T Single submitter PALB2-related cancer predisposition
c.-1G>C Single submitter hereditary neoplastic syndrome
c.-5G>T Single submitter hereditary neoplastic syndrome
c.*10A>T Single submitter hereditary neoplastic syndrome
c.*7G>A Single submitter hereditary breast carcinoma
p.Ala1025Thr Single submitter pancreatic cancer, susceptibility to, 3 ⚠
p.Ala1079Ser Single submitter breast-ovarian cancer, familial, susceptibility to, 5 ⚠
p.Ala1138Thr Single submitter pancreatic cancer, susceptibility to, 3 ⚠
p.Ala188Gly Single submitter hereditary neoplastic syndrome ⚠
p.Ala22= Single submitter Fanconi anemia complementation group N
p.Ala245Ser Single submitter hereditary neoplastic syndrome ⚠
p.Ala245Val Single submitter breast-ovarian cancer, familial, susceptibility to, 5 ⚠
p.Ala308Val Single submitter hereditary breast carcinoma ⚠
p.Ala33Pro Single submitter hereditary breast ovarian cancer syndrome ⚠
p.Ala38Gly Single submitter hereditary neoplastic syndrome ⚠
p.Ala38Val Single submitter ovarian cancer ⚠
p.Ala406Val Single submitter hereditary breast carcinoma ⚠
p.Ala427= Single submitter hereditary neoplastic syndrome
p.Ala491Pro Single submitter PALB2-related disorder ⚠
p.Ala491Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala503Pro Single submitter hereditary neoplastic syndrome ⚠
p.Ala519Asp Single submitter hereditary neoplastic syndrome ⚠
p.Ala523Gly Single submitter hereditary breast carcinoma ⚠
p.Ala579Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala590Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala712Pro Single submitter Inherited breast cancer and ovarian cancer ⚠
p.Ala783Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala880Thr Single submitter hereditary breast carcinoma ⚠
p.Ala900Pro Single submitter hereditary neoplastic syndrome ⚠
p.Ala900Val Single submitter pancreatic cancer, susceptibility to, 3 ⚠
p.Ala903Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala915Thr Single submitter breast-ovarian cancer, familial, susceptibility to, 5 ⚠
p.Ala946Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala968Gly Single submitter breast-ovarian cancer, familial, susceptibility to, 5 ⚠
p.Arg1086Gln Single submitter breast-ovarian cancer, familial, susceptibility to, 5 ⚠
p.Arg1086Gly Single submitter familial pancreatic carcinoma ⚠
p.Arg1117= Single submitter hereditary neoplastic syndrome
p.Arg120Gly Single submitter hereditary neoplastic syndrome ⚠
p.Arg146Ser Single submitter hereditary neoplastic syndrome ⚠
p.Arg147Lys Single submitter hereditary breast carcinoma ⚠
p.Arg170Gly Single submitter hereditary neoplastic syndrome ⚠
p.Arg170Thr Single submitter hereditary neoplastic syndrome ⚠
p.Arg189= Single submitter hereditary neoplastic syndrome
p.Arg189Ile Single submitter hereditary breast carcinoma ⚠
p.Arg196Lys Single submitter PALB2-related disorder ⚠
p.Arg282Gly Single submitter hereditary breast carcinoma ⚠
p.Arg282Ser Single submitter hereditary neoplastic syndrome ⚠
p.Arg34Cys Single submitter Inherited breast cancer and ovarian cancer ⚠
p.Arg34His Single submitter hereditary neoplastic syndrome ⚠
p.Arg34Leu Single submitter hereditary breast carcinoma ⚠
p.Arg365Gly Single submitter hereditary neoplastic syndrome ⚠
p.Arg37Cys Single submitter hereditary neoplastic syndrome ⚠
p.Arg37His Single submitter hereditary breast carcinoma ⚠
p.Arg40Lys Single submitter breast-ovarian cancer, familial, susceptibility to, 5 ⚠
p.Arg541Lys Single submitter hereditary neoplastic syndrome ⚠
p.Arg566Cys Single submitter hereditary breast carcinoma ⚠
p.Arg566His Single submitter pancreatic cancer, susceptibility to, 3 ⚠
p.Arg566Pro Single submitter breast-ovarian cancer, familial, susceptibility to, 5 ⚠
p.Arg594Lys Single submitter hereditary neoplastic syndrome ⚠
p.Arg663Cys Single submitter familial pancreatic carcinoma ⚠
p.Arg663His Single submitter hereditary neoplastic syndrome ⚠
p.Arg686Lys Single submitter PALB2-related disorder ⚠
p.Arg753Gln Single submitter hereditary neoplastic syndrome ⚠
p.Arg825Gly Single submitter hereditary neoplastic syndrome ⚠
p.Arg825Thr Single submitter breast-ovarian cancer, familial, susceptibility to, 5 ⚠
p.Arg945= Single submitter hereditary neoplastic syndrome
p.Asn1034Ser Single submitter hereditary neoplastic syndrome ⚠
p.Asn186Ile Single submitter breast-ovarian cancer, familial, susceptibility to, 5 ⚠
p.Asn186Ser Single submitter hereditary breast carcinoma ⚠
p.Asn241Ser Single submitter hereditary neoplastic syndrome ⚠
p.Asn335Ser Single submitter hereditary breast carcinoma ⚠
p.Asn336His Single submitter hereditary breast carcinoma ⚠
p.Asn344Asp Single submitter hereditary neoplastic syndrome ⚠
p.Asn349Thr Single submitter hereditary neoplastic syndrome ⚠
p.Asn366Asp Single submitter Inherited breast cancer and ovarian cancer ⚠
p.Asn366Ser Single submitter hereditary neoplastic syndrome ⚠
p.Asn368Ser Single submitter hereditary neoplastic syndrome ⚠
p.Asn418Asp Single submitter Fanconi anemia complementation group N ⚠
p.Asn418Ser Single submitter hereditary breast carcinoma ⚠
p.Asn455Ile Single submitter hereditary neoplastic syndrome ⚠
p.Asn455Ser Single submitter hereditary neoplastic syndrome ⚠
p.Asn497Ser Single submitter hereditary neoplastic syndrome ⚠
p.Asn716Asp Single submitter hereditary neoplastic syndrome ⚠
p.Asn716Lys Single submitter hereditary neoplastic syndrome ⚠
p.Asn716Ser Single submitter hereditary neoplastic syndrome ⚠
p.Asn821His Single submitter hereditary neoplastic syndrome ⚠
p.Asn821Tyr Single submitter hereditary neoplastic syndrome ⚠
p.Asn854Ser Single submitter hereditary neoplastic syndrome ⚠
p.Asn930Asp Single submitter hereditary breast carcinoma ⚠
p.Asn938Ser Single submitter hereditary neoplastic syndrome ⚠
p.Asp101Glu Single submitter pancreatic cancer, susceptibility to, 3 ⚠
p.Asp111Asn Single submitter hereditary breast carcinoma ⚠
p.Asp1141Asn Single submitter hereditary neoplastic syndrome ⚠
p.Asp122Gly Single submitter hereditary neoplastic syndrome ⚠
p.Asp134Asn Single submitter Breast and/or ovarian cancer ⚠
p.Asp161Glu Single submitter hereditary neoplastic syndrome ⚠
p.Asp161His Single submitter hereditary neoplastic syndrome ⚠
p.Asp219Gly Single submitter breast-ovarian cancer, familial, susceptibility to, 5 ⚠
p.Asp277Asn Single submitter hereditary neoplastic syndrome ⚠
p.Asp301Gly Single submitter hereditary breast carcinoma ⚠
p.Asp360Gly Single submitter hereditary neoplastic syndrome ⚠
p.Asp434Ala Single submitter hereditary neoplastic syndrome ⚠
p.Asp434Gly Single submitter hereditary neoplastic syndrome ⚠
p.Asp446Gly Single submitter hereditary neoplastic syndrome ⚠
p.Asp446Val Single submitter breast-ovarian cancer, familial, susceptibility to, 5 ⚠
p.Asp459Glu Single submitter hereditary neoplastic syndrome ⚠
p.Asp459Gly Single submitter breast-ovarian cancer, familial, susceptibility to, 5 ⚠
p.Asp498Asn Single submitter hereditary breast carcinoma ⚠
p.Asp498Tyr Single submitter hereditary neoplastic syndrome ⚠
p.Asp525Tyr Single submitter hereditary neoplastic syndrome ⚠
p.Asp585Asn Single submitter hereditary neoplastic syndrome ⚠
p.Asp586Asn Single submitter Breast and/or ovarian cancer ⚠
p.Asp595Asn Single submitter hereditary breast carcinoma ⚠
p.Asp595Gly Single submitter hereditary breast carcinoma ⚠
p.Asp611Glu Single submitter hereditary neoplastic syndrome ⚠
p.Asp665Val Single submitter hereditary neoplastic syndrome ⚠
p.Asp674Asn Single submitter hereditary neoplastic syndrome ⚠
p.Asp714Asn Single submitter familial pancreatic carcinoma ⚠
p.Asp717Asn Single submitter hereditary breast carcinoma ⚠
p.Asp777Asn Single submitter hereditary neoplastic syndrome ⚠
p.Asp777Tyr Single submitter hereditary breast carcinoma ⚠
p.Asp801Asn Single submitter hereditary neoplastic syndrome ⚠
p.Asp801Gly Single submitter hereditary breast carcinoma ⚠
p.Asp893Tyr Single submitter breast-ovarian cancer, familial, susceptibility to, 5 ⚠
p.Asp89Gly Single submitter hereditary neoplastic syndrome ⚠
p.Asp953Gly Single submitter hereditary neoplastic syndrome ⚠
p.Asp997Tyr Single submitter hereditary neoplastic syndrome ⚠
p.Cys1078Ser Single submitter hereditary neoplastic syndrome ⚠
p.Cys1127Arg Single submitter hereditary neoplastic syndrome ⚠
p.Cys1127Tyr Single submitter hereditary neoplastic syndrome ⚠
p.Cys162Ser Single submitter hereditary breast carcinoma ⚠
p.Cys327Tyr Single submitter hereditary neoplastic syndrome ⚠
p.Cys396Tyr Single submitter hereditary breast carcinoma ⚠
p.Cys419Arg Single submitter hereditary neoplastic syndrome ⚠
p.Cys469Trp Single submitter hereditary neoplastic syndrome ⚠
p.Cys653Tyr Single submitter hereditary neoplastic syndrome ⚠
p.Cys756Tyr Single submitter hereditary neoplastic syndrome ⚠
p.Cys768Ser Single submitter hereditary breast carcinoma ⚠
p.Cys77Arg Single submitter hereditary breast carcinoma ⚠
p.Cys802Ser Single submitter hereditary neoplastic syndrome ⚠
p.Cys882Phe Single submitter hereditary neoplastic syndrome ⚠
p.Cys949Tyr Single submitter pancreatic cancer, susceptibility to, 3 ⚠
p.Gln1023Glu Single submitter hereditary breast carcinoma ⚠
p.Gln1044His Single submitter hereditary neoplastic syndrome ⚠
p.Gln1114His Single submitter hereditary breast carcinoma ⚠
p.Gln1146Glu Single submitter hereditary neoplastic syndrome ⚠
p.Gln1146His Single submitter hereditary neoplastic syndrome ⚠
p.Gln139Pro Single submitter hereditary neoplastic syndrome ⚠
p.Gln348Lys Single submitter hereditary neoplastic syndrome ⚠
p.Gln370Arg Single submitter hereditary neoplastic syndrome ⚠
p.Gln377Pro Single submitter hereditary neoplastic syndrome ⚠
p.Gln460Arg Single submitter breast-ovarian cancer, familial, susceptibility to, 5 ⚠
p.Gln552His Single submitter hereditary neoplastic syndrome ⚠
p.Gln559Glu Single submitter hereditary neoplastic syndrome ⚠
p.Gln568His Single submitter hereditary neoplastic syndrome ⚠
p.Gln568Lys Single submitter hereditary neoplastic syndrome ⚠
p.Gln602Glu Single submitter hereditary neoplastic syndrome ⚠
p.Gln602Leu Single submitter hereditary breast carcinoma ⚠
p.Gln613Leu Single submitter hereditary breast carcinoma ⚠
p.Gln61Leu Single submitter hereditary neoplastic syndrome ⚠
p.Gln740Glu Single submitter hereditary neoplastic syndrome ⚠
p.Gln759= Single submitter Breast and/or ovarian cancer
p.Gln759His Single submitter hereditary breast carcinoma ⚠
p.Gln795Glu Single submitter hereditary neoplastic syndrome ⚠
p.Gln797Lys Single submitter hereditary neoplastic syndrome ⚠
p.Gln838Glu Single submitter hereditary neoplastic syndrome ⚠
p.Gln856Glu Single submitter hereditary neoplastic syndrome ⚠
p.Gln988= Single submitter hereditary neoplastic syndrome
p.Glu105Asp Single submitter hereditary neoplastic syndrome ⚠
p.Glu12= Single submitter hereditary neoplastic syndrome
p.Glu126Lys Single submitter hereditary neoplastic syndrome ⚠
p.Glu12Gln Single submitter hereditary breast carcinoma ⚠
p.Glu138Ala Single submitter hereditary neoplastic syndrome ⚠
p.Glu15= Single submitter familial pancreatic carcinoma
p.Glu159= Single submitter breast-ovarian cancer, familial, susceptibility to, 5
p.Glu15Lys Single submitter hereditary neoplastic syndrome ⚠
p.Glu181Gln Single submitter hereditary breast carcinoma ⚠
p.Glu263Gly Single submitter pancreatic cancer, susceptibility to, 3 ⚠
p.Glu272Lys Single submitter hereditary neoplastic syndrome ⚠
p.Glu352Gln Single submitter hereditary neoplastic syndrome ⚠
p.Glu367Lys Single submitter hereditary neoplastic syndrome ⚠
p.Glu384= Single submitter hereditary breast carcinoma
p.Glu384Lys Single submitter hereditary neoplastic syndrome ⚠
p.Glu392= Single submitter hereditary breast carcinoma
p.Glu3Gln Single submitter hereditary neoplastic syndrome ⚠
p.Glu3Lys Single submitter hereditary breast carcinoma ⚠
p.Glu53Lys Single submitter hereditary breast carcinoma ⚠
p.Glu54= Single submitter hereditary neoplastic syndrome
p.Glu54Gly Single submitter hereditary breast carcinoma ⚠
p.Glu554= Single submitter hereditary neoplastic syndrome
p.Glu554Lys Single submitter hereditary neoplastic syndrome ⚠
p.Glu632= Single submitter hereditary breast carcinoma
p.Glu636Gly Single submitter hereditary neoplastic syndrome ⚠
p.Glu639Asp Single submitter hereditary breast carcinoma ⚠
p.Glu669Gly Single submitter hereditary breast carcinoma ⚠
p.Glu672Lys Single submitter hereditary neoplastic syndrome ⚠
p.Glu673Lys Single submitter hereditary breast carcinoma ⚠
p.Glu744Lys Single submitter hereditary neoplastic syndrome ⚠
p.Glu837Gln Single submitter hereditary neoplastic syndrome ⚠
p.Glu837Lys Single submitter breast-ovarian cancer, familial, susceptibility to, 5 ⚠
p.Glu843Asp Single submitter hereditary neoplastic syndrome ⚠
p.Glu860Asp Single submitter breast-ovarian cancer, familial, susceptibility to, 5 ⚠
p.Glu892Lys Single submitter pancreatic cancer, susceptibility to, 3 ⚠
p.Glu94Asp Single submitter hereditary neoplastic syndrome ⚠
p.Glu94Gln Single submitter hereditary neoplastic syndrome ⚠
p.Glu954Gly Single submitter hereditary neoplastic syndrome ⚠
p.Glu954Lys Single submitter hereditary neoplastic syndrome ⚠
p.Glu990Gln Single submitter hereditary neoplastic syndrome ⚠
p.Gly1021Arg Single submitter Breast and/or ovarian cancer ⚠
p.Gly103Arg Single submitter hereditary neoplastic syndrome ⚠
p.Gly103Glu Single submitter hereditary neoplastic syndrome ⚠
p.Gly1043Ala Single submitter hereditary breast carcinoma ⚠
p.Gly1135Glu Single submitter hereditary neoplastic syndrome ⚠
p.Gly1145Ser Single submitter hereditary neoplastic syndrome ⚠
p.Gly114Glu Single submitter hereditary breast carcinoma ⚠
p.Gly115Val Single submitter breast-ovarian cancer, familial, susceptibility to, 5 ⚠
p.Gly165= Single submitter hereditary neoplastic syndrome

Benign 110

p.Asn241Asp Expert panel PALB2-related cancer predisposition
p.Glu1018Asp Expert panel PALB2-related cancer predisposition
p.Glu1083Asp Expert panel PALB2-related cancer predisposition
p.Glu672Gln Expert panel PALB2-related cancer predisposition
p.Ile676Thr Expert panel PALB2-related cancer predisposition
c.1684+29A>G Multiple submitters breast-ovarian cancer, familial, susceptibility to, 5
c.2586+58C>T Multiple submitters breast-ovarian cancer, familial, susceptibility to, 5
c.2997-20dup Multiple submitters hereditary breast carcinoma
c.3113+1376C>G Multiple submitters hereditary breast carcinoma
c.3114-51= Multiple submitters hereditary breast carcinoma
c.3201+101A>G Multiple submitters hereditary breast ovarian cancer syndrome
c.3201+95C>T Multiple submitters hereditary breast ovarian cancer syndrome
c.49-165C>G Multiple submitters
c.109-12del Single submitter hereditary breast carcinoma
c.109-20dup Single submitter hereditary breast carcinoma
c.1684+183TAAA[11] Single submitter
c.1684+183TAAA[12] Single submitter
c.1684+183TAAA[7] Single submitter
c.1684+183TAAA[9] Single submitter
c.1685-10del Single submitter hereditary breast carcinoma
c.211+191A>T Single submitter
c.211+274C>T Single submitter
c.211+320G>A Single submitter
c.2515-6del Single submitter hereditary breast carcinoma
c.2748+306C>G Single submitter
c.2749-497C>G Single submitter
c.2835-299G>T Single submitter
c.2835-71del Single submitter
c.2835-72_2835-71del Single submitter
c.2996+183del Single submitter hereditary breast carcinoma
c.2996+264T>C Single submitter
c.2997-10_2997-9insA Single submitter hereditary breast carcinoma
c.2997-205C>T Single submitter Inherited breast cancer and ovarian cancer
c.3113+204G>A Single submitter
c.3113+325A>G Single submitter
c.3351-48del Single submitter hereditary breast carcinoma
c.3351-53del Single submitter
c.48+311C>T Single submitter
c.49-21_49-19del Single submitter hereditary breast carcinoma
c.-48A>G Single submitter
c.*146A>G Single submitter breast-ovarian cancer, familial, susceptibility to, 2
c.*1G>A Single submitter hereditary breast carcinoma
c.*6G>A Single submitter hereditary breast carcinoma
c.*9A>G Single submitter hereditary breast carcinoma
p.Ala323= Single submitter hereditary breast carcinoma
p.Ala770= Single submitter hereditary breast carcinoma
p.Arg511= Single submitter hereditary breast carcinoma
p.Arg594= Single submitter hereditary breast carcinoma
p.Asn342= Single submitter hereditary breast carcinoma
p.Asn368= Single submitter hereditary breast carcinoma
p.Asp101= Single submitter hereditary breast carcinoma
p.Asp122= Single submitter hereditary breast carcinoma
p.Asp715= Single submitter hereditary breast carcinoma
p.Cys824= Single submitter hereditary breast carcinoma
p.Gln1004= Single submitter hereditary breast carcinoma
p.Gln119= Single submitter hereditary breast carcinoma
p.Gln260= Single submitter hereditary breast carcinoma
p.Gln55= Single submitter hereditary breast carcinoma
p.Glu19= Single submitter hereditary breast carcinoma
p.Glu544= Single submitter hereditary breast carcinoma
p.Glu996= Single submitter hereditary breast carcinoma
p.Gly1104= Single submitter hereditary breast carcinoma
p.Gly114= Single submitter hereditary breast carcinoma
p.Gly173= Single submitter hereditary breast carcinoma
p.Gly509= Single submitter hereditary breast carcinoma
p.Gly596= Single submitter hereditary breast carcinoma
p.His1184= Single submitter hereditary breast carcinoma
p.Leu253= Single submitter hereditary breast carcinoma
p.Leu671= Single submitter hereditary breast carcinoma
p.Leu703= Single submitter hereditary breast carcinoma
p.Leu823= Single submitter hereditary breast carcinoma
p.Leu984= Single submitter hereditary breast carcinoma
p.Lys1124= Single submitter hereditary breast carcinoma
p.Lys311Asn Single submitter ovarian cancer
p.Lys49= Single submitter hereditary breast carcinoma
p.Lys628= Single submitter hereditary breast carcinoma
p.Lys899= Single submitter hereditary breast carcinoma
p.Phe728= Single submitter hereditary breast carcinoma
p.Pro210= Single submitter hereditary breast carcinoma
p.Pro707= Single submitter hereditary breast carcinoma
p.Pro785= Single submitter hereditary breast carcinoma
p.Pro924= Single submitter hereditary breast carcinoma
p.Ser270= Single submitter hereditary breast carcinoma
p.Ser271= Single submitter hereditary breast carcinoma
p.Ser359= Single submitter hereditary breast carcinoma
p.Ser488= Single submitter hereditary breast carcinoma
p.Ser518= Single submitter hereditary breast carcinoma
p.Ser565= Single submitter hereditary breast carcinoma
p.Ser64= Single submitter hereditary breast carcinoma
p.Ser792= Single submitter hereditary breast carcinoma
p.Ser804= Single submitter hereditary breast carcinoma
p.Thr1012= Single submitter hereditary breast carcinoma
p.Thr1099_Thr1100= Single submitter hereditary breast carcinoma
p.Thr297= Single submitter hereditary breast carcinoma
p.Thr317= Single submitter hereditary breast carcinoma
p.Thr706= Single submitter hereditary breast carcinoma
p.Thr720= Single submitter hereditary breast carcinoma
p.Thr734= Single submitter hereditary breast carcinoma
p.Thr787= Single submitter hereditary breast carcinoma
p.Tyr1064= Single submitter hereditary breast carcinoma
p.Tyr334= Single submitter hereditary breast carcinoma
p.Tyr512= Single submitter hereditary breast carcinoma
p.Val1089= Single submitter hereditary breast carcinoma
p.Val1103= Single submitter hereditary breast carcinoma
p.Val163= Single submitter hereditary breast carcinoma
p.Val750= Single submitter hereditary breast carcinoma
c.1684+1597T>C No assertion criteria hereditary breast carcinoma
c.2587-703G>A No assertion criteria
c.2997-624G>C No assertion criteria hereditary breast carcinoma
p.Lys16Glu No assertion criteria

Benign/Likely benign 460

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

c.108+12G>A Multiple submitters hereditary neoplastic syndrome
c.1684+18TGA[9] Multiple submitters Breast and/or ovarian cancer
c.212-16dup Multiple submitters hereditary neoplastic syndrome
c.212-24TA[4] Multiple submitters hereditary neoplastic syndrome
c.212-58A>C Multiple submitters breast-ovarian cancer, familial, susceptibility to, 5
c.2514+10A>G Multiple submitters hereditary neoplastic syndrome
c.2515-21_2515-19del Multiple submitters hereditary neoplastic syndrome
c.2586+15C>A Multiple submitters hereditary breast carcinoma
c.2586+81C>T Multiple submitters breast-ovarian cancer, familial, susceptibility to, 5
c.2748+15C>T Multiple submitters hereditary neoplastic syndrome
c.2748+16G>A Multiple submitters breast-ovarian cancer, familial, susceptibility to, 5
c.2749-16_2749-14del Multiple submitters hereditary neoplastic syndrome
c.2834+15A>G Multiple submitters breast-ovarian cancer, familial, susceptibility to, 5
c.2834+18A>T Multiple submitters breast-ovarian cancer, familial, susceptibility to, 5
c.2835-11A>G Multiple submitters PALB2-related cancer predisposition
c.2996+17T>C Multiple submitters breast-ovarian cancer, familial, susceptibility to, 5
c.2996+9del Multiple submitters breast-ovarian cancer, familial, susceptibility to, 5
c.3114-20A>G Multiple submitters hereditary breast carcinoma
c.3201+10G>A Multiple submitters hereditary neoplastic syndrome
c.3351-48G>T Multiple submitters hereditary breast carcinoma
c.48+10dup Multiple submitters hereditary neoplastic syndrome
c.-47G>A Multiple submitters hereditary neoplastic syndrome
c.*6_*13delinsAATTTGTATACCACTATTCA Multiple submitters hereditary neoplastic syndrome
p.Ala1017= Multiple submitters hereditary breast carcinoma
p.Ala1025= Multiple submitters hereditary breast carcinoma
p.Ala1063= Multiple submitters hereditary neoplastic syndrome
p.Ala1079= Multiple submitters hereditary breast carcinoma
p.Ala1138= Multiple submitters hereditary neoplastic syndrome
p.Ala245= Multiple submitters hereditary breast carcinoma
p.Ala308= Multiple submitters hereditary neoplastic syndrome
p.Ala38= Multiple submitters hereditary neoplastic syndrome
p.Ala385= Multiple submitters hereditary neoplastic syndrome
p.Ala41= Multiple submitters hereditary breast carcinoma
p.Ala424= Multiple submitters hereditary neoplastic syndrome
p.Ala503= Multiple submitters hereditary neoplastic syndrome
p.Ala505= Multiple submitters hereditary neoplastic syndrome
p.Ala519= Multiple submitters hereditary neoplastic syndrome
p.Ala523= Multiple submitters hereditary neoplastic syndrome
p.Ala579= Multiple submitters hereditary breast carcinoma
p.Ala712= Multiple submitters hereditary neoplastic syndrome
p.Ala712Val Multiple submitters breast-ovarian cancer, familial, susceptibility to, 5
p.Ala736= Multiple submitters hereditary neoplastic syndrome
p.Ala746= Multiple submitters hereditary breast carcinoma
p.Ala751= Multiple submitters hereditary neoplastic syndrome
p.Ala761= Multiple submitters hereditary neoplastic syndrome
p.Ala783= Multiple submitters hereditary neoplastic syndrome
p.Ala880= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 5
p.Ala995= Multiple submitters hereditary breast carcinoma
p.Arg153= Multiple submitters hereditary neoplastic syndrome
p.Arg160= Multiple submitters hereditary neoplastic syndrome
p.Arg175= Multiple submitters hereditary neoplastic syndrome
p.Arg26= Multiple submitters hereditary neoplastic syndrome
p.Arg34= Multiple submitters hereditary neoplastic syndrome
p.Arg365= Multiple submitters hereditary neoplastic syndrome
p.Arg414= Multiple submitters hereditary breast carcinoma
p.Arg421= Multiple submitters hereditary neoplastic syndrome
p.Arg501= Multiple submitters hereditary neoplastic syndrome
p.Arg541= Multiple submitters hereditary neoplastic syndrome
p.Arg566= Multiple submitters hereditary neoplastic syndrome
p.Arg663= Multiple submitters hereditary neoplastic syndrome
p.Arg794= Multiple submitters hereditary neoplastic syndrome
p.Arg976= Multiple submitters hereditary neoplastic syndrome
p.Asn1003= Multiple submitters hereditary breast carcinoma
p.Asn1033= Multiple submitters hereditary breast carcinoma
p.Asn1096= Multiple submitters hereditary neoplastic syndrome
p.Asn217= Multiple submitters hereditary neoplastic syndrome
p.Asn280= Multiple submitters hereditary breast carcinoma
p.Asn340= Multiple submitters hereditary neoplastic syndrome
p.Asn452= Multiple submitters hereditary breast carcinoma
p.Asn497= Multiple submitters hereditary breast carcinoma
p.Asn540= Multiple submitters hereditary neoplastic syndrome
p.Asn577= Multiple submitters hereditary neoplastic syndrome
p.Asn688= Multiple submitters hereditary breast carcinoma
p.Asn709= Multiple submitters hereditary breast carcinoma
p.Asn716= Multiple submitters hereditary neoplastic syndrome
p.Asn826= Multiple submitters hereditary neoplastic syndrome
p.Asn854= Multiple submitters hereditary breast carcinoma
p.Asn965= Multiple submitters hereditary breast carcinoma
p.Asp1052= Multiple submitters hereditary breast carcinoma
p.Asp1053= Multiple submitters hereditary neoplastic syndrome
p.Asp1122= Multiple submitters hereditary neoplastic syndrome
p.Asp1125= Multiple submitters hereditary neoplastic syndrome
p.Asp1168= Multiple submitters hereditary neoplastic syndrome
p.Asp161= Multiple submitters hereditary breast carcinoma
p.Asp2= Multiple submitters hereditary breast carcinoma
p.Asp255= Multiple submitters Breast and/or ovarian cancer
p.Asp277= Multiple submitters hereditary neoplastic syndrome
p.Asp301= Multiple submitters hereditary neoplastic syndrome
p.Asp360= Multiple submitters hereditary breast carcinoma
p.Asp363= Multiple submitters hereditary neoplastic syndrome
p.Asp459= Multiple submitters hereditary neoplastic syndrome
p.Asp496= Multiple submitters hereditary breast carcinoma
p.Asp498= Multiple submitters hereditary breast carcinoma
p.Asp56= Multiple submitters Fanconi anemia complementation group N
p.Asp584= Multiple submitters hereditary neoplastic syndrome
p.Asp585= Multiple submitters hereditary neoplastic syndrome
p.Asp586= Multiple submitters hereditary neoplastic syndrome
p.Asp595= Multiple submitters hereditary neoplastic syndrome
p.Asp616= Multiple submitters hereditary neoplastic syndrome
p.Asp674= Multiple submitters hereditary breast carcinoma
p.Asp722= Multiple submitters hereditary neoplastic syndrome
p.Asp765= Multiple submitters hereditary neoplastic syndrome
p.Asp893= Multiple submitters hereditary neoplastic syndrome
p.Asp927= Multiple submitters hereditary breast carcinoma
p.Asp953= Multiple submitters hereditary neoplastic syndrome
p.Cys1109= Multiple submitters hereditary neoplastic syndrome
p.Cys396= Multiple submitters hereditary neoplastic syndrome
p.Cys419= Multiple submitters hereditary neoplastic syndrome
p.Cys520= Multiple submitters hereditary breast carcinoma
p.Cys527= Multiple submitters hereditary neoplastic syndrome
p.Cys756= Multiple submitters Fanconi anemia complementation group N
p.Cys828= Multiple submitters hereditary neoplastic syndrome
p.Cys891= Multiple submitters hereditary neoplastic syndrome
p.Cys933= Multiple submitters hereditary breast carcinoma
p.Cys949= Multiple submitters hereditary neoplastic syndrome
p.Gln1020= Multiple submitters hereditary breast carcinoma
p.Gln1023= Multiple submitters hereditary neoplastic syndrome
p.Gln1044= Multiple submitters hereditary neoplastic syndrome
p.Gln1091= Multiple submitters hereditary neoplastic syndrome
p.Gln1146= Multiple submitters hereditary neoplastic syndrome
p.Gln1175= Multiple submitters hereditary neoplastic syndrome
p.Gln125= Multiple submitters hereditary breast carcinoma
p.Gln141= Multiple submitters hereditary neoplastic syndrome
p.Gln158= Multiple submitters hereditary neoplastic syndrome
p.Gln228= Multiple submitters hereditary neoplastic syndrome
p.Gln251= Multiple submitters hereditary neoplastic syndrome
p.Gln314= Multiple submitters hereditary neoplastic syndrome
p.Gln348= Multiple submitters hereditary neoplastic syndrome
p.Gln370= Multiple submitters hereditary neoplastic syndrome
p.Gln377= Multiple submitters hereditary neoplastic syndrome
p.Gln39= Multiple submitters hereditary breast carcinoma
p.Gln460= Multiple submitters hereditary neoplastic syndrome
p.Gln506= Multiple submitters hereditary neoplastic syndrome
p.Gln552= Multiple submitters hereditary neoplastic syndrome
p.Gln559Arg Multiple submitters breast-ovarian cancer, familial, susceptibility to, 5
p.Gln613= Multiple submitters hereditary neoplastic syndrome
p.Gln692= Multiple submitters hereditary neoplastic syndrome
p.Gln797= Multiple submitters hereditary neoplastic syndrome
p.Gln822= Multiple submitters hereditary neoplastic syndrome
p.Gln856= Multiple submitters hereditary neoplastic syndrome
p.Gln905= Multiple submitters hereditary breast carcinoma
p.Gln958= Multiple submitters hereditary neoplastic syndrome
p.Gln987= Multiple submitters hereditary breast carcinoma
p.Glu1002= Multiple submitters hereditary neoplastic syndrome
p.Glu1018= Multiple submitters hereditary neoplastic syndrome
p.Glu126= Multiple submitters hereditary breast carcinoma
p.Glu13= Multiple submitters hereditary neoplastic syndrome
p.Glu205= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 5
p.Glu27= Multiple submitters hereditary neoplastic syndrome
p.Glu290= Multiple submitters hereditary breast carcinoma
p.Glu3= Multiple submitters hereditary neoplastic syndrome
p.Glu331= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 5
p.Glu347= Multiple submitters hereditary neoplastic syndrome
p.Glu373= Multiple submitters hereditary breast carcinoma
p.Glu407= Multiple submitters hereditary neoplastic syndrome
p.Glu426= Multiple submitters hereditary breast carcinoma
p.Glu456= Multiple submitters hereditary neoplastic syndrome
p.Glu457= Multiple submitters hereditary neoplastic syndrome
p.Glu495= Multiple submitters hereditary neoplastic syndrome
p.Glu570= Multiple submitters hereditary breast carcinoma
p.Glu625= Multiple submitters hereditary breast carcinoma
p.Glu636= Multiple submitters hereditary neoplastic syndrome
p.Glu639= Multiple submitters hereditary neoplastic syndrome
p.Glu645= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 5
p.Glu658= Multiple submitters hereditary neoplastic syndrome
p.Glu672= Multiple submitters hereditary neoplastic syndrome
p.Glu744= Multiple submitters hereditary breast carcinoma
p.Glu814= Multiple submitters Breast and/or ovarian cancer
p.Glu860= Multiple submitters hereditary neoplastic syndrome
p.Glu878= Multiple submitters hereditary neoplastic syndrome
p.Glu884= Multiple submitters hereditary neoplastic syndrome
p.Glu943= Multiple submitters hereditary breast carcinoma
p.Gly1028= Multiple submitters hereditary neoplastic syndrome
p.Gly103= Multiple submitters hereditary neoplastic syndrome
p.Gly1068= Multiple submitters hereditary breast carcinoma
p.Gly110= Multiple submitters hereditary neoplastic syndrome
p.Gly112= Multiple submitters hereditary neoplastic syndrome
p.Gly115= Multiple submitters hereditary neoplastic syndrome
p.Gly1166= Multiple submitters hereditary neoplastic syndrome
p.Gly269= Multiple submitters hereditary neoplastic syndrome
p.Gly293= Multiple submitters hereditary breast carcinoma
p.Gly401= Multiple submitters hereditary breast carcinoma
p.Gly439= Multiple submitters hereditary neoplastic syndrome
p.Gly467= Multiple submitters hereditary neoplastic syndrome
p.Gly492= Multiple submitters hereditary neoplastic syndrome
p.Gly651= Multiple submitters hereditary breast carcinoma
p.Gly680= Multiple submitters hereditary breast carcinoma
p.Gly752= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 5
p.Gly808= Multiple submitters Fanconi anemia complementation group N
p.Gly93= Multiple submitters hereditary breast carcinoma
p.Gly937= Multiple submitters hereditary neoplastic syndrome
p.Gly964= Multiple submitters hereditary breast carcinoma
p.Gly971= Multiple submitters hereditary neoplastic syndrome
p.Gly982= Multiple submitters hereditary neoplastic syndrome
p.Gly998Glu Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.His1126= Multiple submitters hereditary neoplastic syndrome
p.His1158= Multiple submitters hereditary neoplastic syndrome
p.His1170= Multiple submitters hereditary neoplastic syndrome
p.His198= Multiple submitters hereditary neoplastic syndrome
p.His264= Multiple submitters hereditary breast carcinoma
p.His394= Multiple submitters hereditary neoplastic syndrome
p.His526= Multiple submitters hereditary neoplastic syndrome
p.His549= Multiple submitters hereditary breast carcinoma
p.His553= Multiple submitters hereditary breast carcinoma
p.His693= Multiple submitters hereditary neoplastic syndrome
p.His762= Multiple submitters hereditary neoplastic syndrome
p.His83= Multiple submitters hereditary neoplastic syndrome
p.His834= Multiple submitters hereditary breast carcinoma
p.His87= Multiple submitters hereditary neoplastic syndrome
p.His913= Multiple submitters hereditary neoplastic syndrome
p.Ile1037= Multiple submitters hereditary neoplastic syndrome
p.Ile1051= Multiple submitters hereditary breast carcinoma
p.Ile182= Multiple submitters hereditary breast carcinoma
p.Ile195= Multiple submitters hereditary neoplastic syndrome
p.Ile216= Multiple submitters hereditary neoplastic syndrome
p.Ile309= Multiple submitters hereditary breast carcinoma
p.Ile309Val Multiple submitters breast-ovarian cancer, familial, susceptibility to, 5
p.Ile654= Multiple submitters hereditary neoplastic syndrome
p.Ile676= Multiple submitters hereditary neoplastic syndrome
p.Ile813= Multiple submitters hereditary breast carcinoma
p.Leu100= Multiple submitters hereditary neoplastic syndrome
p.Leu1069= Multiple submitters hereditary breast carcinoma
p.Leu1070= Multiple submitters hereditary breast carcinoma
p.Leu1085= Multiple submitters hereditary breast carcinoma
p.Leu1092= Multiple submitters hereditary neoplastic syndrome
p.Leu1119= Multiple submitters hereditary neoplastic syndrome
p.Leu1132= Multiple submitters hereditary breast carcinoma
p.Leu1144= Multiple submitters hereditary neoplastic syndrome
p.Leu1150= Multiple submitters hereditary neoplastic syndrome
p.Leu1151= Multiple submitters hereditary neoplastic syndrome
p.Leu143= Multiple submitters hereditary neoplastic syndrome
p.Leu17= Multiple submitters hereditary neoplastic syndrome
p.Leu171= Multiple submitters hereditary neoplastic syndrome
p.Leu176= Multiple submitters hereditary neoplastic syndrome
p.Leu199= Multiple submitters hereditary breast carcinoma
p.Leu200= Multiple submitters hereditary breast carcinoma
p.Leu278= Multiple submitters hereditary breast carcinoma
p.Leu303= Multiple submitters Fanconi anemia complementation group N
p.Leu321= Multiple submitters hereditary breast carcinoma
p.Leu329= Multiple submitters hereditary breast carcinoma
p.Leu345= Multiple submitters hereditary neoplastic syndrome
p.Leu375= Multiple submitters hereditary neoplastic syndrome
p.Leu389= Multiple submitters hereditary breast carcinoma
p.Leu402= Multiple submitters hereditary neoplastic syndrome
p.Leu403= Multiple submitters hereditary breast carcinoma
p.Leu451= Multiple submitters hereditary breast carcinoma
p.Leu482= Multiple submitters hereditary neoplastic syndrome
p.Leu499= Multiple submitters Fanconi anemia complementation group N
p.Leu536= Multiple submitters Breast and/or ovarian cancer
p.Leu556= Multiple submitters hereditary breast carcinoma
p.Leu573= Multiple submitters hereditary breast carcinoma
p.Leu58= Multiple submitters hereditary breast carcinoma
p.Leu581= Multiple submitters Breast and/or ovarian cancer
p.Leu598= Multiple submitters hereditary neoplastic syndrome
p.Leu603= Multiple submitters hereditary neoplastic syndrome
p.Leu604= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 5
p.Leu607= Multiple submitters hereditary neoplastic syndrome
p.Leu63= Multiple submitters hereditary neoplastic syndrome
p.Leu648= Multiple submitters hereditary neoplastic syndrome
p.Leu67= Multiple submitters hereditary neoplastic syndrome
p.Leu789= Multiple submitters Breast and/or ovarian cancer
p.Leu831= Multiple submitters hereditary breast carcinoma
p.Leu861= Multiple submitters hereditary breast carcinoma
p.Leu9= Multiple submitters hereditary breast carcinoma
p.Leu901= Multiple submitters hereditary neoplastic syndrome
p.Leu909= Multiple submitters hereditary neoplastic syndrome
p.Leu931= Multiple submitters hereditary breast carcinoma
p.Leu960= Multiple submitters hereditary neoplastic syndrome
p.Leu961= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 5
p.Leu977= Multiple submitters hereditary neoplastic syndrome
p.Lys1001= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 5
p.Lys1047= Multiple submitters hereditary neoplastic syndrome
p.Lys1098= Multiple submitters hereditary breast carcinoma
p.Lys14= Multiple submitters hereditary neoplastic syndrome
p.Lys142= Multiple submitters hereditary breast carcinoma
p.Lys148= Multiple submitters hereditary breast carcinoma
p.Lys174= Multiple submitters hereditary neoplastic syndrome
p.Lys177= Multiple submitters hereditary neoplastic syndrome
p.Lys20= Multiple submitters hereditary neoplastic syndrome
p.Lys268= Multiple submitters hereditary neoplastic syndrome
p.Lys294= Multiple submitters hereditary breast carcinoma
p.Lys346= Multiple submitters hereditary neoplastic syndrome
p.Lys353= Multiple submitters hereditary breast carcinoma
p.Lys356= Multiple submitters hereditary neoplastic syndrome
p.Lys437= Multiple submitters pancreatic cancer, susceptibility to, 3
p.Lys480= Multiple submitters hereditary breast carcinoma
p.Lys502= Multiple submitters hereditary breast carcinoma
p.Lys515= Multiple submitters hereditary neoplastic syndrome
p.Lys517= Multiple submitters hereditary neoplastic syndrome
p.Lys550= Multiple submitters hereditary breast carcinoma
p.Lys555= Multiple submitters hereditary breast carcinoma
p.Lys564= Multiple submitters hereditary neoplastic syndrome
p.Lys601= Multiple submitters hereditary neoplastic syndrome
p.Lys623= Multiple submitters hereditary neoplastic syndrome
p.Lys633= Multiple submitters hereditary neoplastic syndrome
p.Lys641= Multiple submitters hereditary breast carcinoma
p.Lys681= Multiple submitters hereditary neoplastic syndrome
p.Lys7= Multiple submitters hereditary neoplastic syndrome
p.Lys745= Multiple submitters hereditary neoplastic syndrome
p.Lys81= Multiple submitters hereditary neoplastic syndrome

Likely benign 830

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

c.212-33A>C Expert panel PALB2-related cancer predisposition
p.Lys45= Expert panel PALB2-related cancer predisposition
c.108+11C>T Multiple submitters hereditary breast carcinoma
c.108+7_108+8delinsAT Multiple submitters hereditary breast carcinoma
c.108+8A>G Multiple submitters hereditary breast carcinoma
c.109-10TC[3] Multiple submitters hereditary breast carcinoma
c.109-11G>T Multiple submitters breast-ovarian cancer, familial, susceptibility to, 5
c.109-18T>C Multiple submitters hereditary neoplastic syndrome
c.109-18T>G Multiple submitters hereditary breast carcinoma
c.109-20G>A Multiple submitters hereditary breast carcinoma
c.109-4C>G Multiple submitters hereditary breast carcinoma
c.109-4C>T Multiple submitters hereditary neoplastic syndrome
c.109-6_109-4del Multiple submitters hereditary neoplastic syndrome
c.109-7C>A Multiple submitters hereditary neoplastic syndrome
c.109-7C>T Multiple submitters hereditary neoplastic syndrome
c.109-8T>C Multiple submitters hereditary breast carcinoma
c.1684+10G>A Multiple submitters hereditary neoplastic syndrome
c.1685-14T>C Multiple submitters hereditary neoplastic syndrome
c.1685-20G>A Multiple submitters hereditary breast carcinoma
c.1685-3dup Multiple submitters hereditary breast carcinoma
c.1685-4T>C Multiple submitters hereditary breast carcinoma
c.1685-5T>C Multiple submitters hereditary breast carcinoma
c.1685-6_1685-4del Multiple submitters hereditary neoplastic syndrome
c.1685-9C>T Multiple submitters hereditary neoplastic syndrome
c.211+10G>T Multiple submitters hereditary breast carcinoma
c.211+14A>G Multiple submitters hereditary breast carcinoma
c.211+17C>T Multiple submitters hereditary neoplastic syndrome
c.211+19C>T Multiple submitters hereditary neoplastic syndrome
c.211+7C>A Multiple submitters hereditary breast carcinoma
c.211+7C>G Multiple submitters hereditary breast carcinoma
c.212-17A>T Multiple submitters hereditary breast carcinoma
c.212-18C>T Multiple submitters hereditary neoplastic syndrome
c.212-45T>C Multiple submitters hereditary breast ovarian cancer syndrome
c.212-6C>T Multiple submitters hereditary breast carcinoma
c.212-7T>C Multiple submitters hereditary breast carcinoma
c.212-8C>T Multiple submitters hereditary breast carcinoma
c.212-8del Multiple submitters hereditary breast carcinoma
c.212-9C>T Multiple submitters hereditary neoplastic syndrome
c.2514+18T>G Multiple submitters hereditary neoplastic syndrome
c.2514+20_2514+21del Multiple submitters hereditary breast carcinoma
c.2514+20T>C Multiple submitters hereditary breast carcinoma
c.2514+7del Multiple submitters hereditary breast carcinoma
c.2514+8C>G Multiple submitters hereditary breast carcinoma
c.2514+9C>T Multiple submitters hereditary breast carcinoma
c.2515-12T>C Multiple submitters hereditary breast carcinoma
c.2515-16A>G Multiple submitters hereditary breast carcinoma
c.2515-19G>A Multiple submitters hereditary breast carcinoma
c.2515-20T>C Multiple submitters hereditary neoplastic syndrome
c.2515-6T>C Multiple submitters hereditary breast carcinoma
c.2586+11T>C Multiple submitters hereditary neoplastic syndrome
c.2586+3C>T Multiple submitters hereditary neoplastic syndrome
c.2586+8G>A Multiple submitters hereditary neoplastic syndrome
c.2586+8G>C Multiple submitters hereditary breast carcinoma
c.2587-10A>G Multiple submitters hereditary breast carcinoma
c.2587-11_2587-10delinsAT Multiple submitters hereditary breast carcinoma
c.2587-11C>T Multiple submitters hereditary breast carcinoma
c.2587-12C>T Multiple submitters hereditary neoplastic syndrome
c.2587-13G>T Multiple submitters hereditary breast carcinoma
c.2587-16G>A Multiple submitters hereditary breast carcinoma
c.2587-16G>T Multiple submitters hereditary breast carcinoma
c.2587-19A>G Multiple submitters hereditary neoplastic syndrome
c.2587-5G>A Multiple submitters hereditary breast carcinoma
c.2587-8T>C Multiple submitters hereditary neoplastic syndrome
c.2748+13C>G Multiple submitters hereditary neoplastic syndrome
c.2748+16G>C Multiple submitters hereditary breast carcinoma
c.2748+7G>T Multiple submitters hereditary breast carcinoma
c.2748+9del Multiple submitters hereditary breast carcinoma
c.2749-13T>C Multiple submitters hereditary breast carcinoma
c.2749-15C>T Multiple submitters hereditary neoplastic syndrome
c.2749-19G>A Multiple submitters hereditary breast carcinoma
c.2834+104A>T Multiple submitters
c.2834+11C>T Multiple submitters hereditary breast carcinoma
c.2834+13C>A Multiple submitters pancreatic cancer, susceptibility to, 3
c.2834+13C>G Multiple submitters hereditary neoplastic syndrome
c.2834+16G>A Multiple submitters hereditary breast carcinoma
c.2834+16G>T Multiple submitters hereditary breast carcinoma
c.2834+19G>A Multiple submitters hereditary neoplastic syndrome
c.2834+20T>A Multiple submitters hereditary breast carcinoma
c.2834+7A>G Multiple submitters hereditary breast carcinoma
c.2834+8A>G Multiple submitters hereditary neoplastic syndrome
c.2835-12T>C Multiple submitters hereditary breast carcinoma
c.2835-13A>G Multiple submitters hereditary breast carcinoma
c.2835-18T>C Multiple submitters hereditary neoplastic syndrome
c.2835-27C>T Multiple submitters hereditary breast ovarian cancer syndrome
c.2835-5C>T Multiple submitters hereditary neoplastic syndrome
c.2835-9T>C Multiple submitters hereditary breast carcinoma
c.2996+10G>A Multiple submitters hereditary breast carcinoma
c.2996+10G>C Multiple submitters hereditary breast carcinoma
c.2996+10G>T Multiple submitters hereditary breast carcinoma
c.2996+9A>G Multiple submitters hereditary breast carcinoma
c.2997-14T>C Multiple submitters hereditary breast carcinoma
c.2997-16A>G Multiple submitters hereditary breast carcinoma
c.2997-18A>C Multiple submitters hereditary neoplastic syndrome
c.2997-18A>G Multiple submitters hereditary neoplastic syndrome
c.2997-18A>T Multiple submitters hereditary breast carcinoma
c.2997-9T>C Multiple submitters hereditary neoplastic syndrome
c.3113+10C>T Multiple submitters hereditary breast carcinoma
c.3113+11C>T Multiple submitters hereditary breast carcinoma
c.3113+12C>A Multiple submitters PALB2-related cancer predisposition
c.3113+17G>T Multiple submitters hereditary breast carcinoma
c.3113+6C>T Multiple submitters hereditary neoplastic syndrome
c.3113+7T>C Multiple submitters hereditary breast carcinoma
c.3114-10G>A Multiple submitters hereditary neoplastic syndrome
c.3114-10G>C Multiple submitters hereditary breast carcinoma
c.3114-16A>T Multiple submitters hereditary neoplastic syndrome
c.3114-4T>A Multiple submitters hereditary neoplastic syndrome
c.3201+15G>T Multiple submitters hereditary neoplastic syndrome
c.3201+20G>T Multiple submitters hereditary breast carcinoma
c.3201+7A>G Multiple submitters hereditary breast carcinoma
c.3201+8A>G Multiple submitters hereditary breast carcinoma
c.3201+96G>A Multiple submitters hereditary breast ovarian cancer syndrome
c.3201+9T>A Multiple submitters hereditary breast carcinoma
c.3202-18A>G Multiple submitters hereditary breast carcinoma
c.3202-20T>C Multiple submitters hereditary breast carcinoma
c.3350+14A>G Multiple submitters hereditary neoplastic syndrome
c.3350+16T>G Multiple submitters hereditary breast carcinoma
c.3350+9G>A Multiple submitters hereditary neoplastic syndrome
c.3351-10A>G Multiple submitters hereditary breast carcinoma
c.3351-12G>A Multiple submitters hereditary breast carcinoma
c.3351-16C>T Multiple submitters hereditary breast carcinoma
c.3351-19C>A Multiple submitters hereditary neoplastic syndrome
c.3351-4T>C Multiple submitters hereditary breast carcinoma
c.3351-5A>C Multiple submitters hereditary neoplastic syndrome
c.3351-5A>G Multiple submitters hereditary breast carcinoma
c.3351-6T>C Multiple submitters hereditary neoplastic syndrome
c.3351-9T>C Multiple submitters hereditary breast carcinoma
c.48+10G>C Multiple submitters hereditary breast carcinoma
c.48+16G>A Multiple submitters hereditary breast carcinoma
c.48+19G>A Multiple submitters hereditary neoplastic syndrome
c.48+19G>C Multiple submitters hereditary breast carcinoma
c.48+20G>A Multiple submitters hereditary neoplastic syndrome
c.48+5C>T Multiple submitters hereditary breast carcinoma
c.48+6G>C Multiple submitters hereditary breast carcinoma
c.49-15T>C Multiple submitters hereditary breast carcinoma
c.49-16_49-15del Multiple submitters hereditary breast carcinoma
c.49-16G>A Multiple submitters hereditary breast carcinoma
c.49-18G>C Multiple submitters hereditary breast carcinoma
c.49-4C>T Multiple submitters hereditary breast carcinoma
p.Ala1057= Multiple submitters hereditary neoplastic syndrome
p.Ala1149= Multiple submitters hereditary neoplastic syndrome
p.Ala291= Multiple submitters hereditary neoplastic syndrome
p.Ala727= Multiple submitters hereditary breast carcinoma
p.Ala968= Multiple submitters hereditary neoplastic syndrome
p.Arg40= Multiple submitters hereditary neoplastic syndrome
p.Arg464= Multiple submitters hereditary breast carcinoma
p.Arg942= Multiple submitters hereditary breast carcinoma
p.Asn1034= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 5
p.Asn108= Multiple submitters hereditary neoplastic syndrome
p.Asn1179= Multiple submitters hereditary breast carcinoma
p.Asn344= Multiple submitters hereditary neoplastic syndrome
p.Asn442= Multiple submitters hereditary breast carcinoma
p.Asn444= Multiple submitters hereditary neoplastic syndrome
p.Asp111= Multiple submitters hereditary neoplastic syndrome
p.Asp219= Multiple submitters hereditary neoplastic syndrome
p.Asp611= Multiple submitters hereditary breast carcinoma
p.Asp848= Multiple submitters hereditary neoplastic syndrome
p.Cys768= Multiple submitters hereditary breast carcinoma
p.Cys868= Multiple submitters hereditary neoplastic syndrome
p.Gln568= Multiple submitters hereditary breast carcinoma
p.Gln602= Multiple submitters hereditary neoplastic syndrome
p.Gln740= Multiple submitters hereditary breast carcinoma
p.Glu1083= Multiple submitters hereditary neoplastic syndrome
p.Glu657= Multiple submitters hereditary breast carcinoma
p.Glu71= Multiple submitters hereditary neoplastic syndrome
p.Glu843= Multiple submitters hereditary neoplastic syndrome
p.Glu892= Multiple submitters hereditary neoplastic syndrome
p.Glu956= Multiple submitters hereditary neoplastic syndrome
p.Gly313= Multiple submitters hereditary breast carcinoma
p.Gly364= Multiple submitters hereditary neoplastic syndrome
p.Gly644= Multiple submitters hereditary neoplastic syndrome
p.Gly697= Multiple submitters hereditary neoplastic syndrome
p.His1050= Multiple submitters hereditary neoplastic syndrome
p.His432= Multiple submitters hereditary neoplastic syndrome
p.His567= Multiple submitters hereditary breast carcinoma
p.His786= Multiple submitters hereditary neoplastic syndrome
p.Ile281= Multiple submitters hereditary neoplastic syndrome
p.Ile538= Multiple submitters hereditary breast carcinoma
p.Leu1026= Multiple submitters hereditary neoplastic syndrome
p.Leu250= Multiple submitters hereditary breast carcinoma
p.Leu289= Multiple submitters hereditary neoplastic syndrome
p.Leu315= Multiple submitters hereditary breast carcinoma
p.Leu362= Multiple submitters hereditary neoplastic syndrome
p.Leu600= Multiple submitters hereditary neoplastic syndrome
p.Leu678= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 5
p.Leu855= Multiple submitters hereditary neoplastic syndrome
p.Lys379= Multiple submitters hereditary breast carcinoma
p.Lys422= Multiple submitters hereditary breast carcinoma
p.Lys50= Multiple submitters hereditary neoplastic syndrome
p.Lys68= Multiple submitters hereditary breast carcinoma
p.Lys908Asn Multiple submitters hereditary neoplastic syndrome
p.Lys957= Multiple submitters hereditary neoplastic syndrome
p.Phe1118= Multiple submitters hereditary neoplastic syndrome
p.Phe155= Multiple submitters hereditary neoplastic syndrome
p.Phe557= Multiple submitters hereditary neoplastic syndrome
p.Pro229= Multiple submitters hereditary breast carcinoma
p.Pro286= Multiple submitters hereditary neoplastic syndrome
p.Pro316= Multiple submitters hereditary neoplastic syndrome
p.Pro719= Multiple submitters hereditary neoplastic syndrome
p.Ser1155= Multiple submitters hereditary neoplastic syndrome
p.Ser285= Multiple submitters hereditary breast carcinoma
p.Ser387= Multiple submitters hereditary neoplastic syndrome
p.Ser415= Multiple submitters hereditary neoplastic syndrome
p.Ser417= Multiple submitters hereditary neoplastic syndrome
p.Ser572= Multiple submitters hereditary neoplastic syndrome
p.Ser652= Multiple submitters hereditary breast carcinoma
p.Ser660= Multiple submitters hereditary breast carcinoma
p.Ser979= Multiple submitters hereditary breast carcinoma
p.Ser981= Multiple submitters hereditary neoplastic syndrome
p.Thr31= Multiple submitters hereditary neoplastic syndrome
p.Thr361= Multiple submitters hereditary neoplastic syndrome
p.Thr458= Multiple submitters hereditary neoplastic syndrome
p.Thr494= Multiple submitters hereditary breast carcinoma
p.Thr51= Multiple submitters hereditary neoplastic syndrome
p.Thr666= Multiple submitters hereditary neoplastic syndrome
p.Thr773= Multiple submitters hereditary breast carcinoma
p.Thr799= Multiple submitters hereditary neoplastic syndrome
p.Thr96= Multiple submitters hereditary breast carcinoma
p.Tyr1108= Multiple submitters hereditary neoplastic syndrome
p.Val1019= Multiple submitters hereditary neoplastic syndrome
p.Val1059= Multiple submitters hereditary neoplastic syndrome
p.Val560= Multiple submitters hereditary breast carcinoma
p.Val711= Multiple submitters hereditary neoplastic syndrome
p.Val919= Multiple submitters hereditary neoplastic syndrome
p.Val932= Multiple submitters hereditary neoplastic syndrome
p.Val969= Multiple submitters hereditary breast carcinoma
c.108+13T>G Single submitter hereditary breast carcinoma
c.108+15T>A Single submitter hereditary breast carcinoma
c.108+17C>T Single submitter hereditary breast carcinoma
c.108+21A>G Single submitter
c.108+5G>A Single submitter hereditary breast carcinoma
c.108+6T>G Single submitter hereditary breast carcinoma
c.108+8dup Single submitter
c.108+9A>T Single submitter hereditary breast carcinoma
c.109-11G>A Single submitter hereditary breast carcinoma
c.109-12T>C Single submitter hereditary breast carcinoma
c.109-13T>C Single submitter hereditary neoplastic syndrome
c.109-16T>A Single submitter hereditary breast carcinoma
c.109-30T>C Single submitter
c.109-31G>A Single submitter
c.109-32C>T Single submitter
c.109-4_109-3del Single submitter hereditary breast carcinoma
c.109-9C>T Single submitter hereditary breast carcinoma
c.1684+13G>A Single submitter hereditary breast carcinoma
c.1684+13G>T Single submitter hereditary breast carcinoma
c.1684+14T>C Single submitter hereditary breast carcinoma
c.1684+15G>A Single submitter hereditary breast carcinoma
c.1684+17T>G Single submitter hereditary breast carcinoma
c.1684+18TGA[7] Single submitter hereditary breast carcinoma
c.1684+19G>C Single submitter hereditary breast carcinoma
c.1684+20A>G Single submitter hereditary breast carcinoma
c.1684+238del Single submitter
c.1684+4A>C Single submitter
c.1684+7C>G Single submitter hereditary breast carcinoma
c.1684+7C>T Single submitter hereditary breast carcinoma
c.1684+9A>G Single submitter hereditary breast carcinoma
c.1685-15A>C Single submitter hereditary breast carcinoma
c.1685-15A>G Single submitter breast-ovarian cancer, familial, susceptibility to, 5
c.1685-17_1685-16del Single submitter hereditary breast carcinoma
c.1685-17T>A Single submitter hereditary neoplastic syndrome
c.1685-17T>C Single submitter hereditary breast carcinoma
c.1685-18C>T Single submitter
c.1685-20_1685-10del Single submitter hereditary neoplastic syndrome
c.1685-20G>T Single submitter hereditary breast carcinoma
c.1685-28T>C Single submitter hereditary breast carcinoma
c.1685-29C>T Single submitter
c.1685-43G>A Single submitter
c.1685-50_1685-47del Single submitter
c.1685-6C>T Single submitter hereditary breast carcinoma
c.1685-7del Single submitter hereditary breast carcinoma
c.1685-7T>A Single submitter hereditary breast carcinoma
c.211+10G>A Single submitter hereditary breast carcinoma
c.211+12C>T Single submitter hereditary breast carcinoma
c.211+13C>T Single submitter hereditary breast carcinoma
c.211+15T>C Single submitter hereditary breast carcinoma
c.211+166T>C Single submitter
c.211+18A>G Single submitter hereditary breast carcinoma
c.211+4A>G Single submitter hereditary neoplastic syndrome
c.211+64T>C Single submitter hereditary breast ovarian cancer syndrome
c.211+9A>G Single submitter hereditary breast carcinoma
c.212-10T>C Single submitter hereditary breast carcinoma
c.212-14T>A Single submitter hereditary breast carcinoma
c.212-14T>G Single submitter hereditary breast carcinoma
c.212-15T>G Single submitter hereditary breast carcinoma
c.212-16T>A Single submitter hereditary breast carcinoma
c.212-16T>C Single submitter hereditary breast carcinoma
c.212-16T>G Single submitter hereditary breast carcinoma
c.212-17A>C Single submitter hereditary breast carcinoma
c.212-17A>G Single submitter hereditary breast carcinoma
c.212-17del Single submitter hereditary breast carcinoma
c.212-183T>G Single submitter
c.212-18del Single submitter hereditary breast carcinoma
c.212-19A>G Single submitter hereditary breast carcinoma
c.212-25T>G Single submitter
c.212-4T>G Single submitter hereditary neoplastic syndrome
c.212-50dup Single submitter hereditary breast carcinoma
c.212-6C>G Single submitter hereditary breast carcinoma
c.2514+136T>C Single submitter hereditary neoplastic syndrome
c.2514+14C>A Single submitter hereditary breast carcinoma
c.2514+15C>G Single submitter hereditary breast carcinoma
c.2514+17C>T Single submitter hereditary breast carcinoma

Uncertain significance 2678

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

c.1684+1G>A Expert panel PALB2-related cancer predisposition
c.49-2A>T Expert panel PALB2-related cancer predisposition
p.Ala1017Thr Expert panel PALB2-related cancer predisposition ⚠
p.Ala291Thr Expert panel PALB2-related cancer predisposition ⚠
p.Arg37Ser Expert panel PALB2-related cancer predisposition ⚠
p.Ile944Asn Expert panel PALB2-related cancer predisposition ⚠
p.Leu1171fs Expert panel PALB2-related cancer predisposition
p.Leu35Pro Expert panel PALB2-related cancer predisposition ⚠
p.Leu583Trp Expert panel PALB2-related cancer predisposition ⚠
p.Phe1181fs Expert panel PALB2-related cancer predisposition
p.Pro113Leu Expert panel PALB2-related cancer predisposition ⚠
p.Thr1030Ile Expert panel PALB2-related cancer predisposition ⚠
p.Trp912Gly Expert panel PALB2-related cancer predisposition ⚠
p.Tyr28Asn Expert panel PALB2-related cancer predisposition ⚠
c.108+4A>G Multiple submitters hereditary breast carcinoma
c.1684+6del Multiple submitters breast-ovarian cancer, familial, susceptibility to, 5
c.1685-5T>A Multiple submitters breast-ovarian cancer, familial, susceptibility to, 5
c.211+272C>T Multiple submitters hereditary neoplastic syndrome
c.211+3A>G Multiple submitters hereditary neoplastic syndrome
c.211+6T>A Multiple submitters hereditary neoplastic syndrome
c.2514+4C>T Multiple submitters hereditary breast carcinoma
c.2515-3_2515-2del Multiple submitters hereditary neoplastic syndrome
c.2515-3C>G Multiple submitters hereditary neoplastic syndrome
c.2748+3A>G Multiple submitters hereditary neoplastic syndrome
c.2834+4T>C Multiple submitters hereditary neoplastic syndrome
c.2996+3A>G Multiple submitters hereditary neoplastic syndrome
c.2997-2A>C Multiple submitters hereditary neoplastic syndrome
c.3114-15T>G Multiple submitters hereditary neoplastic syndrome
c.3114-3A>G Multiple submitters hereditary neoplastic syndrome
c.3201+3A>G Multiple submitters hereditary neoplastic syndrome
c.3201+4del Multiple submitters hereditary breast carcinoma
c.3201+6T>A Multiple submitters hereditary breast carcinoma
c.3202-15_3202-13del Multiple submitters hereditary breast carcinoma
c.3202-5A>G Multiple submitters hereditary neoplastic syndrome
c.48+4C>T Multiple submitters hereditary neoplastic syndrome
c.49-2del Multiple submitters hereditary neoplastic syndrome
c.49-3C>T Multiple submitters hereditary neoplastic syndrome
c.-1G>A Multiple submitters hereditary neoplastic syndrome
c.-2C>T Multiple submitters hereditary neoplastic syndrome
c.*15A>G Multiple submitters hereditary neoplastic syndrome
p.450NL[1] Multiple submitters hereditary neoplastic syndrome
p.Ala1017Pro Multiple submitters hereditary breast carcinoma ⚠
p.Ala1025Val Multiple submitters familial pancreatic carcinoma ⚠
p.Ala1057Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1079Val Multiple submitters breast-ovarian cancer, familial, susceptibility to, 5 ⚠
p.Ala1129Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1129Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1129Val Multiple submitters hereditary breast carcinoma ⚠
p.Ala1138Asp Multiple submitters hereditary neoplastic syndrome
p.Ala1138Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1173Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1173Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1173Thr Multiple submitters hereditary breast carcinoma ⚠
p.Ala1173Val Multiple submitters breast-ovarian cancer, familial, susceptibility to, 5 ⚠
p.Ala227Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala22Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala22Val Multiple submitters hereditary breast carcinoma ⚠
p.Ala245Pro Multiple submitters hereditary breast carcinoma ⚠
p.Ala291Val Multiple submitters hereditary breast carcinoma ⚠
p.Ala323Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala323Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala323Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala339Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala339Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala33Asp Multiple submitters hereditary breast carcinoma ⚠
p.Ala33Thr Multiple submitters hereditary breast carcinoma ⚠
p.Ala385Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala38Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala391Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala41Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala424Thr Multiple submitters hereditary breast carcinoma ⚠
p.Ala424Val Multiple submitters breast-ovarian cancer, familial, susceptibility to, 5 ⚠
p.Ala427Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala447Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala447Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala491Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala491Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala503Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala507Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala507Val Multiple submitters hereditary breast carcinoma ⚠
p.Ala519Gly Multiple submitters hereditary breast carcinoma ⚠
p.Ala519Pro Multiple submitters hereditary breast carcinoma ⚠
p.Ala519Val Multiple submitters hereditary breast carcinoma ⚠
p.Ala523Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala579Pro Multiple submitters hereditary breast carcinoma ⚠
p.Ala579Val Multiple submitters familial pancreatic carcinoma ⚠
p.Ala587Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala590Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala590Gly Multiple submitters hereditary breast carcinoma ⚠
p.Ala736Asp Multiple submitters breast-ovarian cancer, familial, susceptibility to, 5 ⚠
p.Ala736Gly Multiple submitters hereditary breast carcinoma ⚠
p.Ala736Val Multiple submitters Breast and/or ovarian cancer ⚠
p.Ala746Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala761Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala770Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala842Val Multiple submitters hereditary breast carcinoma ⚠
p.Ala874Asp Multiple submitters hereditary breast carcinoma ⚠
p.Ala874Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala890Gly Multiple submitters hereditary neoplastic syndrome
p.Ala890Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala890Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala900Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala903Pro Multiple submitters hereditary breast carcinoma ⚠
p.Ala903Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala915Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala935Gly Multiple submitters pancreatic cancer, susceptibility to, 3 ⚠
p.Ala935Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala935Val Multiple submitters hereditary breast carcinoma ⚠
p.Ala946Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala968Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala995Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala995Val Multiple submitters hereditary breast carcinoma ⚠
p.Arg120Thr Multiple submitters pancreatic cancer, susceptibility to, 3 ⚠
p.Arg131Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg146Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg146Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg147del Multiple submitters hereditary neoplastic syndrome
p.Arg153Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg160Lys Multiple submitters hereditary breast carcinoma ⚠
p.Arg189Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg189Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg189Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg196Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg238Gly Multiple submitters Fanconi anemia complementation group N ⚠
p.Arg238Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg239del Multiple submitters hereditary neoplastic syndrome
p.Arg239Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg244Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg244Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg244Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg282del Multiple submitters hereditary neoplastic syndrome
p.Arg282Lys Multiple submitters hereditary breast carcinoma ⚠
p.Arg37Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg37Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg40Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg411Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg411Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg414Gln Multiple submitters familial pancreatic carcinoma ⚠
p.Arg464Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg464Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg501Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg501Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg510Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg510Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg511Lys Multiple submitters hereditary breast carcinoma ⚠
p.Arg511Ser Multiple submitters hereditary breast carcinoma ⚠
p.Arg516Ile Multiple submitters hereditary breast carcinoma ⚠
p.Arg541Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg566del Multiple submitters hereditary neoplastic syndrome
p.Arg566Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg646Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg646Lys Multiple submitters hereditary breast carcinoma ⚠
p.Arg663Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg686Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg718Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg794Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg794Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg879Gly Multiple submitters hereditary breast carcinoma ⚠
p.Arg942Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg945Gly Multiple submitters diffuse midline glioma, H3 K27-altered ⚠
p.Arg975Met Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn1033Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn1039Thr Multiple submitters hereditary breast carcinoma ⚠
p.Asn108Tyr Multiple submitters hereditary breast carcinoma ⚠
p.Asn1096_Pro1097delinsThr Multiple submitters breast-ovarian cancer, familial, susceptibility to, 5
p.Asn1096Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn1096Lys Multiple submitters hereditary breast carcinoma ⚠
p.Asn1096Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn1179Ser Multiple submitters hereditary breast carcinoma ⚠
p.Asn241His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn280His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn280Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn302Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn302Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn330Asp Multiple submitters hereditary breast carcinoma ⚠
p.Asn330Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn335Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn335Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn336Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn344Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn368Lys Multiple submitters hereditary breast carcinoma ⚠
p.Asn444Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn450His Multiple submitters breast-ovarian cancer, familial, susceptibility to, 5 ⚠
p.Asn452Lys Multiple submitters hereditary breast carcinoma ⚠
p.Asn497Asp Multiple submitters hereditary breast carcinoma ⚠
p.Asn497Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn540Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn540Ser Multiple submitters hereditary breast carcinoma ⚠
p.Asn577Asp Multiple submitters hereditary breast carcinoma ⚠
p.Asn577Ser Multiple submitters hereditary breast carcinoma ⚠
p.Asn709Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn826Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn863Asp Multiple submitters hereditary breast carcinoma ⚠
p.Asn863Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn930Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn930Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp101Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp101His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp1052Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp1052His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp1052Val Multiple submitters hereditary breast carcinoma ⚠
p.Asp1053del Multiple submitters hereditary neoplastic syndrome
p.Asp1053Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp111Gly Multiple submitters hereditary breast carcinoma ⚠
p.Asp1125Glu Multiple submitters hereditary breast carcinoma ⚠
p.Asp1125His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp1125Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp1141His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp1177Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp122Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp122Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp208His Multiple submitters hereditary breast carcinoma ⚠
p.Asp208Val Multiple submitters hereditary breast carcinoma ⚠
p.Asp234Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp234His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp234Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp255Gly Multiple submitters hereditary breast carcinoma ⚠
p.Asp277Tyr Multiple submitters hereditary breast carcinoma ⚠
p.Asp2Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp2Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp301Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp434Glu Multiple submitters hereditary breast carcinoma ⚠
p.Asp434His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp496Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp496Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp496Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp525Val Multiple submitters hereditary breast carcinoma ⚠
p.Asp571Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp584Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp584Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp585Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp586dup Multiple submitters hereditary breast carcinoma
p.Asp595Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp616Gly Multiple submitters hereditary breast carcinoma ⚠
p.Asp616His Multiple submitters breast-ovarian cancer, familial, susceptibility to, 5
p.Asp616Val Multiple submitters hereditary neoplastic syndrome
p.Asp618Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp62Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp62Tyr Multiple submitters pancreatic cancer, susceptibility to, 3 ⚠
p.Asp665Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp670Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp670Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp674Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp674Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp715Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp715del Multiple submitters hereditary neoplastic syndrome
p.Asp717Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp717Val Multiple submitters hereditary breast carcinoma ⚠
p.Asp722Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp722Gly Multiple submitters hereditary breast carcinoma ⚠
p.Asp722His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp772Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp801Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp803Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp848Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp871Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp871Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp871Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp893Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp893His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp893Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp89His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp902Tyr Multiple submitters hereditary neoplastic syndrome
p.Asp927Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp927Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp927His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp927Val Multiple submitters hereditary breast carcinoma
p.Asp953Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp986Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp986Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys1060Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys1078Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys1109Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys1109Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys1147Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys327Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys396Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys396Trp Multiple submitters hereditary breast carcinoma ⚠
p.Cys419Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys469Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys469Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys520Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys527Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys527Tyr Multiple submitters hereditary breast carcinoma ⚠
p.Cys57Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys57Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys630Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys653Phe Multiple submitters hereditary breast carcinoma ⚠
p.Cys724Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys724Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys755Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys756Arg Multiple submitters hereditary breast carcinoma ⚠
p.Cys768Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys77Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys77Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys824Tyr Multiple submitters hereditary breast carcinoma ⚠
p.Cys828Arg Multiple submitters hereditary breast carcinoma ⚠
p.Cys868Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys868Tyr Multiple submitters hereditary neoplastic syndrome
p.Cys882Arg Multiple submitters hereditary neoplastic syndrome ⚠