ATM — 17666 ClinVar variants
All ClinVar germline ATM variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 5302 flagged for review →
2002 Pathogenic · 602 Pathogenic/Likely pathogenic · 609 Likely pathogenic · 1450 Conflicting · 359 Benign · 1189 Benign/Likely benign · 3331 Likely benign · 8124 Uncertain significance
Full ATM gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 5302
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 21
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
ATM p.Arg1095Lys
Likely pathogenic
Expert panel
ATM-related cancer predisposition
-
ATM p.Thr2682Ser
Pathogenic
Expert panel
ATM-related cancer predisposition
-
ATM p.Val2424Gly
Pathogenic
Expert panel
ATM-related cancer predisposition
-
ATM p.Ala20Gly
Likely pathogenic
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala2622Val
Pathogenic/Likely pathogenic
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Asp2597Tyr
Likely pathogenic
Multiple submitters
ataxia telangiectasia
-
ATM p.Asp2708Asn
Pathogenic/Likely pathogenic
Multiple submitters
ATM-related cancer predisposition
-
ATM p.Glu2596Asp
Pathogenic/Likely pathogenic
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ile323Val
Pathogenic/Likely pathogenic
Multiple submitters
ATM-related disorder
-
ATM p.Met2806Ile
Pathogenic/Likely pathogenic
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Arg1095Ile
Likely pathogenic
Single submitter
hereditary breast carcinoma
-
ATM p.Asp2625Glu
Pathogenic
Single submitter
ataxia telangiectasia
-
ATM p.Glu1031Asp
Likely pathogenic
Single submitter
hereditary neoplastic syndrome
-
ATM p.Glu166Gln
Pathogenic
Single submitter
ataxia telangiectasia
-
ATM p.Glu2145Val
Likely pathogenic
Single submitter
hereditary neoplastic syndrome
-
ATM p.Glu2596Val
Likely pathogenic
Single submitter
hereditary neoplastic syndrome
-
ATM p.Lys2266Asn
Likely pathogenic
Single submitter
ATM-related disorder
-
ATM p.Lys2421Gln
Likely pathogenic
Single submitter
ovarian cancer
-
ATM p.Lys2639Gln
Likely pathogenic
Single submitter
hereditary neoplastic syndrome
-
ATM p.Lys2670Asn
Likely pathogenic
Single submitter
hereditary neoplastic syndrome
-
ATM p.Ser1770Leu
Likely pathogenic
Single submitter
hereditary neoplastic syndrome
Predictors agree, ClinVar conflicts 760
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification. · showing the 150 best-reviewed of 760
-
ATM p.Thr2396Ser
Conflicting
Single submitter
ataxia telangiectasia
-
ATM p.Ala1052Val
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Ala1059Thr
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Ala1089Ser
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Ala1089Thr
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Ala112Thr
Conflicting
Single submitter
ATM-related cancer predisposition
-
ATM p.Ala1138Gly
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Ala1211Thr
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Ala1359Asp
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Ala135Val
Conflicting
Single submitter
ataxia telangiectasia
-
ATM p.Ala1427Thr
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Ala1605Thr
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Ala1605Val
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Ala1694Gly
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Ala1694Thr
Conflicting
Single submitter
Breast and/or ovarian cancer
-
ATM p.Ala1694Val
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Ala1762Thr
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Ala188Ser
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Ala193Thr
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Ala193Val
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Ala1958Val
Conflicting
Single submitter
ataxia telangiectasia
-
ATM p.Ala1976Thr
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Ala2054Ser
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Ala216Ser
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Ala220Gly
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Ala220Thr
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Ala220Val
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Ala2324Ser
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Ala2325Val
Conflicting
Single submitter
ataxia telangiectasia
-
ATM p.Ala2354Thr
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Ala235Thr
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Ala2386Glu
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Ala244Thr
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Ala2466Glu
Conflicting
Single submitter
hereditary breast carcinoma
-
ATM p.Ala2578Val
Conflicting
Single submitter
ataxia telangiectasia
-
ATM p.Ala2622Thr
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Ala425Ser
Conflicting
Single submitter
Hereditary cancer
-
ATM p.Ala425Thr
Conflicting
Single submitter
hereditary breast carcinoma
-
ATM p.Ala502Gly
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Ala78Thr
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Ala799Val
Conflicting
Single submitter
Breast and/or ovarian cancer
-
ATM p.Ala823Ser
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Ala823Val
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Ala84Ser
Conflicting
Single submitter
hereditary breast carcinoma
-
ATM p.Ala84Val
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Ala869Gly
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Ala869Val
Conflicting
Single submitter
ataxia telangiectasia
-
ATM p.Arg1032Lys
Conflicting
Single submitter
ataxia telangiectasia
-
ATM p.Arg1205Cys
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Arg1205His
Conflicting
Single submitter
hereditary breast ovarian cancer syndrome
-
ATM p.Arg1304Gly
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Arg1479Lys
Conflicting
Single submitter
ataxia telangiectasia
-
ATM p.Arg1585Gly
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Arg1618Gln
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Arg1619Lys
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Arg173Gly
Conflicting
Single submitter
ataxia telangiectasia
-
ATM p.Arg173Met
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Arg173Ser
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Arg1779Lys
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Arg1882Gln
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Arg1918Thr
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Arg1921Lys
Conflicting
Single submitter
ataxia telangiectasia
-
ATM p.Arg1973Gly
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Arg1973Lys
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Arg19Lys
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Arg2034Gln
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Arg2060His
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Arg2105Ser
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Arg2161Gly
Conflicting
Single submitter
ataxia telangiectasia
-
ATM p.Arg2191Lys
Conflicting
Single submitter
ataxia telangiectasia
-
ATM p.Arg2380Gly
Conflicting
Single submitter
ataxia telangiectasia
-
ATM p.Arg2436Gly
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Arg2453His
Conflicting
Single submitter
ATM-related cancer predisposition
-
ATM p.Arg250Gln
Conflicting
Single submitter
Hereditary cancer
-
ATM p.Arg2612Lys
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Arg2691His
Conflicting
Single submitter
ataxia telangiectasia
-
ATM p.Arg2832Pro
Conflicting
Single submitter
ATM-related disorder
-
ATM p.Arg2832Ser
Conflicting
Single submitter
ataxia telangiectasia
-
ATM p.Arg2849Leu
Conflicting
Single submitter
ataxia telangiectasia
-
ATM p.Arg309Gly
Conflicting
Single submitter
ataxia telangiectasia
-
ATM p.Arg32Cys
Conflicting
Single submitter
ataxia telangiectasia
-
ATM p.Arg32His
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Arg35Gln
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Arg447Gln
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Arg451Cys
Conflicting
Single submitter
ATM-related disorder
-
ATM p.Arg45Gln
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Arg45Trp
Conflicting
Single submitter
familial colorectal cancer type X
-
ATM p.Arg568Gly
Conflicting
Single submitter
ATM-related cancer predisposition
-
ATM p.Arg568Ile
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Arg568Lys
Conflicting
Single submitter
Breast and/or ovarian cancer
-
ATM p.Arg667Lys
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Arg692Cys
Conflicting
Single submitter
Breast and/or ovarian cancer
-
ATM p.Arg692Gly
Conflicting
Single submitter
ataxia telangiectasia
-
ATM p.Arg692His
Conflicting
Single submitter
hereditary breast carcinoma
-
ATM p.Arg692Leu
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Arg720His
Conflicting
Single submitter
Breast and/or ovarian cancer
-
ATM p.Arg720Ser
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Arg76Lys
Conflicting
Single submitter
ataxia telangiectasia
-
ATM p.Arg785His
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Arg832Gly
Conflicting
Single submitter
hereditary breast carcinoma
-
ATM p.Arg832His
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Arg832Leu
Conflicting
Single submitter
ataxia telangiectasia
-
ATM p.Arg982His
Conflicting
Single submitter
ATM-related cancer predisposition
-
ATM p.Asn1005Ser
Conflicting
Single submitter
Hereditary cancer
-
ATM p.Asn1081Ser
Conflicting
Single submitter
ATM-related cancer predisposition
-
ATM p.Asn1122Ser
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Asn1223Ser
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Asn122Ser
Conflicting
Single submitter
ataxia telangiectasia
-
ATM p.Asn1230Ser
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Asn1243Ser
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Asn1273Asp
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Asn1293Ser
Conflicting
Single submitter
ataxia telangiectasia
-
ATM p.Asn1326Lys
Conflicting
Single submitter
ATM-related cancer predisposition
-
ATM p.Asn133Ile
Conflicting
Single submitter
ATM-related cancer predisposition
-
ATM p.Asn133Ser
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Asn1356Asp
Conflicting
Single submitter
Breast and/or ovarian cancer
-
ATM p.Asn1356Thr
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Asn1395Ser
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Asn1515Asp
Conflicting
Single submitter
ataxia telangiectasia
-
ATM p.Asn1515Ser
Conflicting
Single submitter
ataxia telangiectasia
-
ATM p.Asn1515Thr
Conflicting
Single submitter
ataxia telangiectasia
-
ATM p.Asn1595Ser
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Asn1860Ser
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Asn206His
Conflicting
Single submitter
ATM-related cancer predisposition
-
ATM p.Asn2088Ser
Conflicting
Single submitter
ataxia telangiectasia
-
ATM p.Asn2130Ser
Conflicting
Single submitter
ataxia telangiectasia
-
ATM p.Asn2282Asp
Conflicting
Single submitter
hereditary breast carcinoma
-
ATM p.Asn2282Ser
Conflicting
Single submitter
ataxia telangiectasia
-
ATM p.Asn2326Asp
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Asn2435Asp
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Asn246Ser
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Asn2472Ser
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Asn2586Ser
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Asn2603Ser
Conflicting
Single submitter
ovarian cancer
-
ATM p.Asn272Ser
Conflicting
Single submitter
ataxia telangiectasia
-
ATM p.Asn2994Ser
Conflicting
Single submitter
ataxia telangiectasia
-
ATM p.Asn471His
Conflicting
Single submitter
ataxia telangiectasia
-
ATM p.Asn504Ser
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Asn562Ile
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Asn562Ser
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Asn567Ser
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Asn602Ser
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Asn619His
Conflicting
Single submitter
ATM-related disorder
-
ATM p.Asn703Ser
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Asn711Asp
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Asn778Ser
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Asn796Tyr
Conflicting
Single submitter
hereditary breast carcinoma
-
ATM p.Asn81Asp
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM p.Asn81Ser
Conflicting
Single submitter
ataxia telangiectasia
-
ATM p.Asn843Asp
Conflicting
Single submitter
hereditary neoplastic syndrome
Predicted LoF vs a conflicting call 28
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.
-
ATM p.Val3025fs
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM c.1236-3_1236-2insC
Conflicting
Single submitter
ataxia telangiectasia
-
ATM c.1802+1del
Conflicting
Single submitter
ataxia telangiectasia
-
ATM c.2377-2A>G
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM c.2467-2A>C
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM c.2639-7_2639-2del
Conflicting
Single submitter
ataxia telangiectasia
-
ATM c.331+2dup
Conflicting
Single submitter
ataxia telangiectasia
-
ATM c.3993+2T>C
Conflicting
Single submitter
hereditary breast carcinoma
-
ATM c.4109+2dup
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM c.4237-2A>G
Conflicting
Single submitter
ataxia telangiectasia
-
ATM c.4612-2A>C
Conflicting
Single submitter
lung cancer
-
ATM c.497-1G>T
Conflicting
Single submitter
ataxia telangiectasia
-
ATM c.5005+2T>C
Conflicting
Single submitter
ataxia telangiectasia
-
ATM c.5006-2A>G
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM c.6452+2T>C
Conflicting
Single submitter
ataxia telangiectasia
-
ATM c.6808-1G>A
Conflicting
Single submitter
ataxia telangiectasia
-
ATM c.6808-6_6808-2del
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM c.7307+2dup
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM c.7629+2T>C
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM c.7928-2A>G
Conflicting
Single submitter
ATM-related cancer predisposition
-
ATM c.8151+2T>C
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM c.8152-1G>T
Conflicting
Single submitter
hereditary neoplastic syndrome
-
ATM c.8851-1G>C
Conflicting
Single submitter
hereditary breast carcinoma
-
ATM c.-30-1G>T
Conflicting
Single submitter
ATM-related cancer predisposition
-
ATM p.Gln1274Ter
Conflicting
Single submitter
ataxia telangiectasia
-
ATM p.Ile366fs
Conflicting
Single submitter
ataxia telangiectasia
-
ATM p.Leu1189_Val1190insTer
Conflicting
Single submitter
ataxia telangiectasia
-
ATM p.Ser470Ter
Conflicting
Single submitter
hereditary neoplastic syndrome
Predictors lean, ClinVar uncertain 4162
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 4162
-
ATM p.Ala2893Asp
Uncertain significance
Expert panel
ATM-related cancer predisposition
-
ATM p.Arg2912Gly
Uncertain significance
Expert panel
ATM-related cancer predisposition
-
ATM p.Gln2177Pro
Uncertain significance
Expert panel
ATM-related cancer predisposition
-
ATM p.Glu2294Lys
Uncertain significance
Expert panel
ATM-related cancer predisposition
-
ATM p.Gly197Glu
Uncertain significance
Expert panel
ATM-related cancer predisposition
-
ATM p.Gly2867Arg
Uncertain significance
Expert panel
ATM-related cancer predisposition
-
ATM p.His2554Arg
Uncertain significance
Expert panel
ATM-related cancer predisposition
-
ATM p.Leu1617Pro
Uncertain significance
Expert panel
ATM-related cancer predisposition
-
ATM p.Leu2338Pro
Uncertain significance
Expert panel
ATM-related cancer predisposition
-
ATM p.Phe2686Leu
Uncertain significance
Expert panel
ATM-related cancer predisposition
-
ATM p.Pro2699Leu
Uncertain significance
Expert panel
ATM-related cancer predisposition
-
ATM p.Ser421Leu
Uncertain significance
Expert panel
ATM-related cancer predisposition
-
ATM p.Thr1953Ile
Uncertain significance
Expert panel
ATM-related cancer predisposition
-
ATM p.Thr2640Ser
Uncertain significance
Expert panel
ATM-related cancer predisposition
-
ATM p.Thr2911Asn
Uncertain significance
Expert panel
ATM-related cancer predisposition
-
ATM p.Tyr583Cys
Uncertain significance
Expert panel
ATM-related cancer predisposition
-
ATM p.Val2119Leu
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ser2581Arg
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala1014Thr
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala1041Ser
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Ala1041Thr
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Ala1052Gly
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Ala1052Thr
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala1059Ser
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Ala1079Gly
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala1079Thr
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Ala1090Val
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Ala1110Thr
Uncertain significance
Multiple submitters
ATM-related cancer predisposition
-
ATM p.Ala1110Val
Uncertain significance
Multiple submitters
hereditary breast carcinoma
-
ATM p.Ala1119Ser
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala1119Val
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala1123Thr
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Ala112Val
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala1138Val
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala1172Ser
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala1299Val
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala1309Pro
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala1355Glu
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala1359Thr
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala135Gly
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala135Thr
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Ala1391Thr
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Ala1391Val
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala1460Ser
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala1634Thr
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala1658Ser
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Ala1658Thr
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala1699Val
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Ala1812Val
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala1887Val
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala188Gly
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala1931Val
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Ala193Gly
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala1942Thr
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala1949Thr
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala1950Val
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala1976Gly
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala1976Val
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Ala2067Ser
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Ala20Thr
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala2102Pro
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala2131Asp
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Ala2262Asp
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala2262Pro
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala2301Pro
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala2308Thr
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala2308Val
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala2321Asp
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Ala2346Val
Uncertain significance
Multiple submitters
hereditary breast carcinoma
-
ATM p.Ala2354Val
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala2364Pro
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala2368Ser
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Ala2386Pro
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala2391Thr
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala2391Val
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala2466Thr
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Ala2466Val
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Ala2524Thr
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala2524Val
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Ala2562Asp
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala2602Thr
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala2622Gly
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala2626Val
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala2635Asp
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Ala2688Pro
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Ala2688Val
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala2693Thr
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala2726Val
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala2787Pro
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala2787Thr
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala2787Val
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala2798Val
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala2857Gly
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Ala2857Thr
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala2883Val
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Ala2893Val
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Ala302Val
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala3054Asp
Uncertain significance
Multiple submitters
hereditary breast carcinoma
-
ATM p.Ala3054Pro
Uncertain significance
Multiple submitters
familial colorectal cancer type X
-
ATM p.Ala3054Thr
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Ala3054Val
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala340Val
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Ala425Val
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Ala502Thr
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Ala510Thr
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala531Val
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala545Thr
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala545Val
Uncertain significance
Multiple submitters
hereditary breast carcinoma
-
ATM p.Ala59Ser
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala59Val
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala736Val
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala78Gly
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala799Thr
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala823Thr
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Ala869Glu
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Ala869Thr
Uncertain significance
Multiple submitters
hereditary breast carcinoma
-
ATM p.Ala886Gly
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala886Ser
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala911Ser
Uncertain significance
Multiple submitters
hereditary breast carcinoma
-
ATM p.Ala920Ser
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala920Val
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala921Thr
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Arg1032Ser
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Arg1039Ile
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Arg1106Lys
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Arg110Gly
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Arg1132Gly
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Arg1132Lys
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Arg1204Lys
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Arg1262Lys
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Arg13Cys
Uncertain significance
Multiple submitters
ATM-related cancer predisposition
-
ATM p.Arg13His
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Arg1633Gly
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Arg1730Pro
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Arg1779Gly
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Arg1779Ser
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Arg184Gly
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Arg1859Lys
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Arg1875Gln
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Arg1917Gly
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Arg1917Thr
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Arg2060Cys
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Arg2060Gly
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Arg2060Leu
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Arg2105Gly
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Arg2136Lys
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Arg2138Gly
Uncertain significance
Multiple submitters
hereditary breast ovarian cancer syndrome
-
ATM p.Arg2151Thr
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Arg2161Cys
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Arg2161His
Uncertain significance
Multiple submitters
ataxia telangiectasia
Predictors split 331
The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 331
-
ATM p.Ala108Gly
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala108Thr
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala108Val
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Ala1732Gly
Uncertain significance
Multiple submitters
familial colorectal cancer type X
-
ATM p.Ala188Asp
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Ala2296Thr
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Ala2851Val
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ala416Pro
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Arg13Ser
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Arg221Ser
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Arg2263Lys
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Arg2459Gly
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Arg2459His
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Arg2547Gly
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Arg2547Ile
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Arg2691Cys
Uncertain significance
Multiple submitters
familial colorectal cancer type X
-
ATM p.Arg2854His
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Arg337Ser
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Arg90Ser
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Asn109Asp
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Asn1549Lys
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Asn2267Ile
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Asn246Lys
Uncertain significance
Multiple submitters
ATM-related disorder
-
ATM p.Asn883Lys
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Asp1563Asn
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Asp1682Gly
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Asp1682Tyr
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Asp1682Val
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Asp1935Tyr
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Asp2110His
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Asp2320Tyr
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Asp2551Gly
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Asp2551His
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Asp2625Ala
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Asp2672Ala
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Asp817Val
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Asp965His
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Cys2349Tyr
Uncertain significance
Multiple submitters
ATM-related cancer predisposition
-
ATM p.Cys2464Gly
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Gln1919Lys
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Gln2177Arg
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Gln2177Glu
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Gln2399Glu
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Gln2399Lys
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Gln2433His
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Gln2433Leu
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Gln2729Glu
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Gln2762Arg
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Gln654Pro
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Gln65His
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Glu2157Gly
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Glu2362Gly
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Glu2449Gly
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Glu2668Lys
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Glu26Asp
Uncertain significance
Multiple submitters
hereditary breast carcinoma
-
ATM p.Glu2744Ala
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Glu2880Val
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Glu3007Asp
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Glu609Lys
Uncertain significance
Multiple submitters
hereditary breast ovarian cancer syndrome
-
ATM p.Gly228Asp
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Gly2709Ser
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Gly2772Ala
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Gly294Arg
Uncertain significance
Multiple submitters
hereditary breast carcinoma
-
ATM p.His1951Pro
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.His2038Gln
Uncertain significance
Multiple submitters
familial colorectal cancer type X
-
ATM p.His2538Arg
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.His2554Tyr
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.His46Pro
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Ile1271Thr
Uncertain significance
Multiple submitters
hereditary breast carcinoma
-
ATM p.Ile2179Thr
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ile2401Thr
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ile2471Phe
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ile2702Met
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ile2752Met
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ile3036Leu
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Ile3036Val
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Leu1561Pro
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Leu2098Arg
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Leu2163Arg
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Leu2163His
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Leu2211Arg
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Leu2234Gln
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Leu2293Gln
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Leu2338Val
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Leu2452Arg
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Leu2452Gln
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Leu2455Gln
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Leu2519Val
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Leu2760Val
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Leu2945Val
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Leu3048Val
Uncertain significance
Multiple submitters
hereditary breast carcinoma
-
ATM p.Leu427Ser
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Leu686His
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Lys106Asn
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Lys1738Arg
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Lys2363Glu
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Lys2363Met
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Lys2421Ile
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Lys2421Thr
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Lys2465Gln
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Lys24Glu
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Lys24Met
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Lys2530Glu
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Lys31Asn
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Lys331Asn
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Lys573Asn
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Lys70Asn
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Lys93Glu
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Met2616Thr
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Met2667Thr
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Met2935Val
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Met349Ile
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Met753Thr
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Phe1077Leu
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Phe1265Leu
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Phe1336Leu
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Phe1491Leu
Uncertain significance
Multiple submitters
familial colorectal cancer type X
-
ATM p.Phe1683Leu
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Phe2219Leu
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Phe505Leu
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Phe523Leu
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Phe652Leu
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Phe652Ser
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Pro2512Leu
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Pro2512Thr
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Pro2518Leu
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Pro2793Ser
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ser1684Cys
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Ser1990Arg
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Ser1993Ile
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ser2168Trp
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ser2592Cys
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ser2592Pro
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ser2859Cys
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ser2882Leu
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Ser3027Gly
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Ser3046Gly
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Ser98Arg
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Thr1609Ile
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Thr1926Lys
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Thr1953Ala
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Thr1997Pro
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Thr2682Pro
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Thr2921Met
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Thr2961Ala
Uncertain significance
Multiple submitters
ataxia telangiectasia
-
ATM p.Trp1026Cys
Pathogenic/Likely pathogenic
Multiple submitters
ataxia telangiectasia
-
ATM p.Trp1750Leu
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Tyr1252Cys
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Tyr1319Cys
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
ATM p.Tyr1392Cys
Uncertain significance
Multiple submitters
ataxia telangiectasia
All ATM variants
Pathogenic 2002
Showing the top 300 by review status; the full set is in the sitemap.
- c.1607+1G>T Expert panel ATM-related cancer predisposition
- c.2251-2A>T Expert panel ATM-related cancer predisposition
- c.2639-22_2639-20del Expert panel ATM-related cancer predisposition
- c.3078-1G>A Expert panel ATM-related cancer predisposition
- c.332-1G>A Expert panel ATM-related cancer predisposition
- c.4909+1G>A Expert panel ATM-related cancer predisposition
- c.496+5G>A Expert panel ATM-related cancer predisposition
- c.5177+1G>C Expert panel ATM-related cancer predisposition
- c.5763-1050A>G Expert panel ATM-related cancer predisposition
- c.5763-1G>C Expert panel ATM-related cancer predisposition
- c.6976-2A>C Expert panel ATM-related cancer predisposition
- c.6997dup Expert panel ATM-related cancer predisposition
- c.8585-2A>C Expert panel ATM-related cancer predisposition
- c.8786+1G>A Expert panel ATM-related cancer predisposition
- p.Ala2045_Leu2046insTer Expert panel ATM-related cancer predisposition
- p.Ala911fs Expert panel ATM-related cancer predisposition
- p.Arg1898Ter Expert panel ATM-related cancer predisposition
- p.Arg23Ter Expert panel ATM-related cancer predisposition
- p.Arg250Ter Expert panel ATM-related cancer predisposition
- p.Arg2832Leu Expert panel ATM-related cancer predisposition
- p.Arg3047Ter Expert panel ATM-related cancer predisposition
- p.Arg805Ter Expert panel ATM-related cancer predisposition
- p.Asn1719fs Expert panel ATM-related cancer predisposition
- p.Asp130fs Expert panel ATM-related cancer predisposition
- p.Asp2320fs Expert panel ATM-related cancer predisposition
- p.Cys1286fs Expert panel ATM-related cancer predisposition
- p.Cys718fs Expert panel ATM-related cancer predisposition
- p.Gln1117Ter Expert panel ATM-related cancer predisposition
- p.Gln161fs Expert panel ATM-related cancer predisposition
- p.Gln1839Ter Expert panel ATM-related cancer predisposition
- p.Gln2220Ter Expert panel ATM-related cancer predisposition
- p.Gln2269= Expert panel ATM-related cancer predisposition
- p.Gln2825Ter Expert panel ATM-related cancer predisposition
- p.Gln466Ter Expert panel ATM-related cancer predisposition
- p.Glu1072Ter Expert panel ATM-related cancer predisposition
- p.Glu1267_Val1268insTer Expert panel ATM-related cancer predisposition
- p.Glu522fs Expert panel ATM-related cancer predisposition
- p.Gly1746Arg Expert panel ATM-related cancer predisposition
- p.His1082fs Expert panel ATM-related cancer predisposition
- p.Leu1764fs Expert panel ATM-related cancer predisposition
- p.Leu2071Ter Expert panel ATM-related cancer predisposition
- p.Leu2135_Arg2136insTer Expert panel ATM-related cancer predisposition
- p.Leu2307fs Expert panel ATM-related cancer predisposition
- p.Leu481Ter Expert panel ATM-related cancer predisposition
- p.Leu762fs Expert panel ATM-related cancer predisposition
- p.Lys1192= Expert panel ATM-related cancer predisposition
- p.Lys1440Ter Expert panel ATM-related cancer predisposition
- p.Lys2756Ter Expert panel ATM-related cancer predisposition
- p.Lys387fs Expert panel ATM-related cancer predisposition
- p.Lys468fs Expert panel ATM-related cancer predisposition
- p.Met1Thr Expert panel ATM-related cancer predisposition
- p.Phe1463fs Expert panel ATM-related cancer predisposition
- p.Phe1877fs Expert panel ATM-related cancer predisposition
- p.Phe2799fs Expert panel ATM-related cancer predisposition
- p.Pro955fs Expert panel ATM-related cancer predisposition
- p.Ser274_Leu275insTer Expert panel ATM-related cancer predisposition
- p.Ser2855_Val2856delinsArgIle Expert panel ATM-related cancer predisposition
- p.Ser2860del Expert panel ATM-related cancer predisposition
- p.Ser837fs Expert panel ATM-related cancer predisposition
- p.Thr1743Ile Expert panel ATM-related cancer predisposition
- p.Thr2682Ser Expert panel ATM-related cancer predisposition ⚠
- p.Thr452fs Expert panel ATM-related cancer predisposition
- p.Trp156Ter Expert panel ATM-related cancer predisposition
- p.Trp2769Ter Expert panel ATM-related cancer predisposition
- p.Tyr1034Ter Expert panel ATM-related cancer predisposition
- p.Tyr2124Ter Expert panel ATM-related cancer predisposition
- p.Tyr264fs Expert panel ATM-related cancer predisposition
- p.Val2424Gly Expert panel ATM-related cancer predisposition ⚠
- p.Val595fs Expert panel ATM-related cancer predisposition
- p.Glu1995fs Multiple submitters hereditary breast carcinoma
- p.Tyr2036Ter Multiple submitters hereditary neoplastic syndrome
- p.Trp2091Ter Multiple submitters hereditary neoplastic syndrome
- p.Cys2112fs Multiple submitters hereditary breast carcinoma
- p.Arg2453fs Multiple submitters hereditary neoplastic syndrome
- p.Ile2899fs Multiple submitters
- c.2464_2466+2del Multiple submitters hereditary neoplastic syndrome
- c.2921+1G>A Multiple submitters ATM-related disorder
- c.2921+2T>G Multiple submitters ataxia telangiectasia
- c.3285-2A>G Multiple submitters hereditary breast carcinoma
- c.331+2T>G Multiple submitters ataxia telangiectasia
- c.4776+1G>A Multiple submitters hereditary neoplastic syndrome
- c.4777-2A>C Multiple submitters hereditary breast carcinoma
- c.5177+1G>A Multiple submitters ataxia telangiectasia
- c.5763-2A>C Multiple submitters hereditary neoplastic syndrome
- c.6007dup Multiple submitters hereditary breast carcinoma
- c.6198+1G>T Multiple submitters ataxia telangiectasia
- c.6199-1G>A Multiple submitters ataxia telangiectasia
- c.6199-1G>T Multiple submitters ataxia telangiectasia
- c.7515+1del Multiple submitters hereditary neoplastic syndrome
- c.7517_7520del Multiple submitters ATM-related cancer predisposition
- c.7519_7520del Multiple submitters hereditary breast carcinoma
- c.7630-1G>C Multiple submitters hereditary neoplastic syndrome
- c.7630-2A>C Multiple submitters ATM-related disorder
- c.7788+1G>A Multiple submitters ataxia telangiectasia
- c.8269del Multiple submitters hereditary neoplastic syndrome
- c.8418+5_8418+8del Multiple submitters ATM-related disorder
- c.8585-1G>C Multiple submitters ataxia telangiectasia
- c.8672del Multiple submitters hereditary breast carcinoma
- c.8781_8786+2del Multiple submitters ataxia telangiectasia
- c.902-1G>T Multiple submitters hereditary neoplastic syndrome
- p.Ala1159fs Multiple submitters hereditary breast carcinoma
- p.Ala1172fs Multiple submitters hereditary neoplastic syndrome
- p.Ala1299fs Multiple submitters ATM-related cancer predisposition
- p.Ala1421fs Multiple submitters hereditary neoplastic syndrome
- p.Ala1634fs Multiple submitters hereditary neoplastic syndrome
- p.Ala1658fs Multiple submitters hereditary neoplastic syndrome
- p.Ala1812fs Multiple submitters hereditary breast carcinoma
- p.Ala188fs Multiple submitters hereditary neoplastic syndrome
- p.Ala1911fs Multiple submitters hereditary breast carcinoma
- p.Ala2067fs Multiple submitters hereditary neoplastic syndrome
- p.Ala2225fs Multiple submitters hereditary neoplastic syndrome
- p.Ala2308fs Multiple submitters hereditary breast carcinoma
- p.Ala235fs Multiple submitters hereditary breast carcinoma
- p.Ala2454fs Multiple submitters ataxia telangiectasia
- p.Ala2622fs Multiple submitters hereditary breast carcinoma
- p.Ala510_Ile511insTer Multiple submitters ataxia telangiectasia
- p.Ala869fs Multiple submitters hereditary neoplastic syndrome
- p.Arg1012fs Multiple submitters hereditary neoplastic syndrome
- p.Arg1106_Leu1107insTer Multiple submitters hereditary breast carcinoma
- p.Arg1150fs Multiple submitters hereditary neoplastic syndrome
- p.Arg1150Ter Multiple submitters hereditary breast carcinoma
- p.Arg1249Ter Multiple submitters hereditary neoplastic syndrome
- p.Arg1262Ter Multiple submitters ataxia telangiectasia
- p.Arg1466Ter Multiple submitters hereditary neoplastic syndrome
- p.Arg1618Ter Multiple submitters Abnormal central motor function
- p.Arg1771fs Multiple submitters hereditary neoplastic syndrome
- p.Arg1875Ter Multiple submitters Inherited prostate cancer
- p.Arg2010fs Multiple submitters ataxia telangiectasia
- p.Arg2060fs Multiple submitters ATM-related disorder
- p.Arg2196Ter Multiple submitters hereditary neoplastic syndrome
- p.Arg2436_Tyr2437insTer Multiple submitters hereditary breast carcinoma
- p.Arg2443Ter Multiple submitters ATM-related cancer predisposition
- p.Arg248Ter Multiple submitters hereditary neoplastic syndrome
- p.Arg2598fs Multiple submitters hereditary breast carcinoma
- p.Arg2598Ter Multiple submitters hereditary neoplastic syndrome
- p.Arg2610fs Multiple submitters hereditary breast carcinoma
- p.Arg2612fs Multiple submitters hereditary neoplastic syndrome
- p.Arg270Ter Multiple submitters hereditary neoplastic syndrome
- p.Arg2712fs Multiple submitters hereditary neoplastic syndrome
- p.Arg2719fs Multiple submitters hereditary neoplastic syndrome
- p.Arg2763Ter Multiple submitters hereditary neoplastic syndrome
- p.Arg2929Ter Multiple submitters hereditary breast carcinoma
- p.Arg2993Ter Multiple submitters ATM-related cancer predisposition
- p.Arg375fs Multiple submitters hereditary neoplastic syndrome
- p.Arg447Ter Multiple submitters hereditary breast carcinoma
- p.Arg457fs Multiple submitters ataxia telangiectasia
- p.Arg457Ter Multiple submitters Abnormal central motor function
- p.Arg832fs Multiple submitters hereditary neoplastic syndrome
- p.Asn1010fs Multiple submitters ataxia telangiectasia
- p.Asn1044fs Multiple submitters hereditary breast carcinoma
- p.Asn1062fs Multiple submitters hereditary neoplastic syndrome
- p.Asn1094Ter Multiple submitters ataxia telangiectasia
- p.Asn1183fs Multiple submitters hereditary neoplastic syndrome
- p.Asn122fs Multiple submitters hereditary neoplastic syndrome
- p.Asn1477fs Multiple submitters hereditary breast carcinoma
- p.Asn1739fs Multiple submitters ataxia telangiectasia
- p.Asn1929Ter Multiple submitters hereditary neoplastic syndrome
- p.Asn1937fs Multiple submitters ataxia telangiectasia
- p.Asn230fs Multiple submitters hereditary neoplastic syndrome
- p.Asn2679fs Multiple submitters hereditary neoplastic syndrome
- p.Asn2782fs Multiple submitters hereditary breast carcinoma
- p.Asn2794fs Multiple submitters hereditary neoplastic syndrome
- p.Asn2826fs Multiple submitters hereditary neoplastic syndrome
- p.Asn2875fs Multiple submitters hereditary breast carcinoma
- p.Asn405fs Multiple submitters hereditary neoplastic syndrome
- p.Asn562fs Multiple submitters ataxia telangiectasia
- p.Asn6fs Multiple submitters ataxia telangiectasia
- p.Asn765fs Multiple submitters hereditary neoplastic syndrome
- p.Asn768fs Multiple submitters hereditary breast carcinoma
- p.Asn845fs Multiple submitters ataxia telangiectasia
- p.Asn859Ter Multiple submitters hereditary neoplastic syndrome
- p.Asp126fs Multiple submitters ATM-related cancer predisposition
- p.Asp1320delinsValTer Multiple submitters hereditary breast carcinoma
- p.Asp1371fs Multiple submitters ataxia telangiectasia
- p.Asp1413fs Multiple submitters hereditary breast carcinoma
- p.Asp1548fs Multiple submitters hereditary neoplastic syndrome
- p.Asp1563fs Multiple submitters hereditary neoplastic syndrome
- p.Asp181fs Multiple submitters hereditary neoplastic syndrome
- p.Asp203_Gly204insTer Multiple submitters hereditary neoplastic syndrome
- p.Asp2137fs Multiple submitters ataxia telangiectasia
- p.Asp2569fs Multiple submitters hereditary neoplastic syndrome
- p.Asp2708Glu Multiple submitters hereditary neoplastic syndrome
- p.Asp2959fs Multiple submitters familial colorectal cancer type X
- p.Asp2959Ter Multiple submitters hereditary neoplastic syndrome
- p.Asp360fs Multiple submitters ataxia telangiectasia
- p.Asp588fs Multiple submitters hereditary breast carcinoma
- p.Asp841fs Multiple submitters hereditary neoplastic syndrome
- p.Cys107fs Multiple submitters hereditary neoplastic syndrome
- p.Cys1821fs Multiple submitters hereditary breast carcinoma
- p.Cys1899Ter Multiple submitters hereditary neoplastic syndrome
- p.Cys199Ter Multiple submitters ataxia telangiectasia
- p.Cys2074fs Multiple submitters hereditary neoplastic syndrome
- p.Cys2246fs Multiple submitters hereditary neoplastic syndrome
- p.Cys2337_Leu2338delinsTer Multiple submitters hereditary neoplastic syndrome
- p.Cys2337fs Multiple submitters hereditary neoplastic syndrome
- p.Cys252_Glu253delinsTer Multiple submitters hereditary neoplastic syndrome
- p.Cys252fs Multiple submitters hereditary neoplastic syndrome
- p.Cys2801Ter Multiple submitters hereditary neoplastic syndrome
- p.Cys2835fs Multiple submitters hereditary breast carcinoma
- p.Cys353fs Multiple submitters hereditary neoplastic syndrome
- p.Cys532fs Multiple submitters hereditary neoplastic syndrome
- p.Cys541_Leu542insTer Multiple submitters hereditary neoplastic syndrome
- p.Cys907fs Multiple submitters hereditary breast carcinoma
- p.Gln1076Ter Multiple submitters hereditary neoplastic syndrome
- p.Gln1084fs Multiple submitters hereditary neoplastic syndrome
- p.Gln1084Ter Multiple submitters hereditary breast carcinoma
- p.Gln1098Ter Multiple submitters ataxia telangiectasia
- p.Gln1116Ter Multiple submitters hereditary neoplastic syndrome
- p.Gln1117_Ala1119delinsTer Multiple submitters ATM-related disorder
- p.Gln1128Ter Multiple submitters hereditary breast carcinoma
- p.Gln1171Ter Multiple submitters hereditary neoplastic syndrome
- p.Gln118Ter Multiple submitters hereditary neoplastic syndrome
- p.Gln1225Ter Multiple submitters hereditary neoplastic syndrome
- p.Gln1276Ter Multiple submitters hereditary neoplastic syndrome
- p.Gln1311Ter Multiple submitters hereditary neoplastic syndrome
- p.Gln1331Ter Multiple submitters hereditary breast carcinoma
- p.Gln1361Ter Multiple submitters hereditary neoplastic syndrome
- p.Gln1478Ter Multiple submitters ataxia telangiectasia
- p.Gln1500Ter Multiple submitters hereditary neoplastic syndrome
- p.Gln1535Ter Multiple submitters hereditary breast carcinoma
- p.Gln1537fs Multiple submitters ataxia telangiectasia
- p.Gln1537Ter Multiple submitters hereditary neoplastic syndrome
- p.Gln1578Ter Multiple submitters hereditary neoplastic syndrome
- p.Gln1620Ter Multiple submitters ataxia telangiectasia
- p.Gln162Ter Multiple submitters ataxia telangiectasia
- p.Gln1653Ter Multiple submitters breast cancer
- p.Gln1689Ter Multiple submitters hereditary neoplastic syndrome
- p.Gln1765Ter Multiple submitters hereditary neoplastic syndrome
- p.Gln180Ter Multiple submitters hereditary neoplastic syndrome
- p.Gln1825Ter Multiple submitters hereditary breast carcinoma
- p.Gln1867fs Multiple submitters hereditary neoplastic syndrome
- p.Gln1867Ter Multiple submitters hereditary breast carcinoma
- p.Gln1879Ter Multiple submitters ataxia telangiectasia
- p.Gln2002Ter Multiple submitters ataxia telangiectasia
- p.Gln2028Ter Multiple submitters hereditary neoplastic syndrome
- p.Gln2061Ter Multiple submitters hereditary neoplastic syndrome
- p.Gln2066fs Multiple submitters hereditary breast carcinoma
- p.Gln2069Ter Multiple submitters ataxia telangiectasia
- p.Gln2108Ter Multiple submitters hereditary neoplastic syndrome
- p.Gln2133fs Multiple submitters hereditary neoplastic syndrome
- p.Gln2133Ter Multiple submitters ataxia telangiectasia
- p.Gln2220fs Multiple submitters hereditary neoplastic syndrome
- p.Gln222Ter Multiple submitters hereditary neoplastic syndrome
- p.Gln2269Ter Multiple submitters ataxia telangiectasia
- p.Gln2277fs Multiple submitters hereditary neoplastic syndrome
- p.Gln2277Ter Multiple submitters ataxia telangiectasia
- p.Gln2280Ter Multiple submitters hereditary breast carcinoma
- p.Gln2297Ter Multiple submitters ataxia telangiectasia
- p.Gln2305Ter Multiple submitters Breast and/or ovarian cancer
- p.Gln2358Ter Multiple submitters hereditary neoplastic syndrome
- p.Gln2397Ter Multiple submitters hereditary neoplastic syndrome
- p.Gln2399Ter Multiple submitters hereditary breast carcinoma
- p.Gln2414Ter Multiple submitters hereditary neoplastic syndrome
- p.Gln2522fs Multiple submitters ataxia telangiectasia
- p.Gln2522Ter Multiple submitters hereditary breast carcinoma
- p.Gln2593Ter Multiple submitters hereditary neoplastic syndrome
- p.Gln2651Ter Multiple submitters hereditary neoplastic syndrome
- p.Gln2684Ter Multiple submitters Abnormal central motor function
- p.Gln268Ter Multiple submitters Inherited breast cancer and ovarian cancer
- p.Gln2714Ter Multiple submitters Breast and/or ovarian cancer
- p.Gln2740Ter Multiple submitters hereditary neoplastic syndrome
- p.Gln2762fs Multiple submitters hereditary neoplastic syndrome
- p.Gln2762Ter Multiple submitters hereditary neoplastic syndrome
- p.Gln2800Ter Multiple submitters hereditary neoplastic syndrome
- p.Gln2828fs Multiple submitters hereditary neoplastic syndrome
- p.Gln2828Ter Multiple submitters hereditary breast carcinoma
- p.Gln284delinsLysArgSerHisTyrTer Multiple submitters ataxia telangiectasia
- p.Gln286fs Multiple submitters hereditary neoplastic syndrome
- p.Gln286Ter Multiple submitters hereditary neoplastic syndrome
- p.Gln2874Ter Multiple submitters ataxia telangiectasia
- p.Gln2896Ter Multiple submitters hereditary breast carcinoma
- p.Gln2942Ter Multiple submitters hereditary neoplastic syndrome
- p.Gln2972Ter Multiple submitters hereditary neoplastic syndrome
- p.Gln2989Ter Multiple submitters hereditary neoplastic syndrome
- p.Gln3031fs Multiple submitters ataxia telangiectasia
- p.Gln355Ter Multiple submitters hereditary neoplastic syndrome
- p.Gln374Ter Multiple submitters ataxia telangiectasia
- p.Gln404_Asn405insTer Multiple submitters hereditary breast carcinoma
- p.Gln404fs Multiple submitters hereditary neoplastic syndrome
- p.Gln414Ter Multiple submitters hereditary breast carcinoma
- p.Gln441Ter Multiple submitters hereditary breast carcinoma
- p.Gln445fs Multiple submitters hereditary neoplastic syndrome
- p.Gln445Ter Multiple submitters hereditary breast carcinoma
- p.Gln446Ter Multiple submitters hereditary neoplastic syndrome
- p.Gln476Ter Multiple submitters hereditary neoplastic syndrome
- p.Gln499Ter Multiple submitters hereditary neoplastic syndrome
- p.Gln513Ter Multiple submitters hereditary breast carcinoma
- p.Gln51Ter Multiple submitters hereditary breast carcinoma
- p.Gln584Ter Multiple submitters hereditary neoplastic syndrome
- p.Gln637Ter Multiple submitters ataxia telangiectasia
- p.Gln754Ter Multiple submitters hereditary neoplastic syndrome
- p.Gln852Ter Multiple submitters ATM-related disorder
- p.Gln893Ter Multiple submitters hereditary neoplastic syndrome
- p.Gln912Ter Multiple submitters hereditary neoplastic syndrome
- p.Gln91Ter Multiple submitters hereditary neoplastic syndrome
- p.Gln984Ter Multiple submitters ataxia telangiectasia
- p.Glu1146Ter Multiple submitters hereditary neoplastic syndrome
- p.Glu1207Ter Multiple submitters hereditary breast carcinoma
- p.Glu1530Ter Multiple submitters hereditary neoplastic syndrome
- p.Glu1592Ter Multiple submitters hereditary breast carcinoma
Pathogenic/Likely pathogenic 602
Showing the top 300 by review status; the full set is in the sitemap.
- p.Ser1993fs Multiple submitters hereditary neoplastic syndrome
- p.Tyr2437Ter Multiple submitters ataxia telangiectasia
- p.Arg2790fs Multiple submitters hereditary neoplastic syndrome
- p.Ser3027fs Multiple submitters hereditary breast carcinoma
- p.Asn3044fs Multiple submitters hereditary neoplastic syndrome
- c.1065+1G>T Multiple submitters ATM-related cancer predisposition
- c.1066-2A>G Multiple submitters hereditary breast carcinoma
- c.1066-2A>T Multiple submitters hereditary neoplastic syndrome
- c.1236-1G>A Multiple submitters hereditary breast carcinoma
- c.1236-1G>C Multiple submitters hereditary neoplastic syndrome
- c.1236-2A>G Multiple submitters ATM-related cancer predisposition
- c.1236-2A>T Multiple submitters hereditary neoplastic syndrome
- c.1236-2del Multiple submitters hereditary neoplastic syndrome
- c.1236-3_1236-2del Multiple submitters hereditary neoplastic syndrome
- c.1607+1G>A Multiple submitters ataxia telangiectasia
- c.1608-2A>G Multiple submitters hereditary neoplastic syndrome
- c.1898+1G>A Multiple submitters ataxia telangiectasia
- c.1898+1G>T Multiple submitters hereditary neoplastic syndrome
- c.1898+2T>G Multiple submitters hereditary neoplastic syndrome
- c.1899-1G>A Multiple submitters hereditary neoplastic syndrome
- c.1899-1G>T Multiple submitters hereditary neoplastic syndrome
- c.1899-2A>C Multiple submitters hereditary neoplastic syndrome
- c.2124+1G>A Multiple submitters hereditary neoplastic syndrome
- c.2250+1G>A Multiple submitters ATM-related disorder
- c.2250+2T>C Multiple submitters hereditary neoplastic syndrome
- c.2251-10T>G Multiple submitters hereditary neoplastic syndrome
- c.2251-1G>C Multiple submitters ataxia telangiectasia
- c.2251-2A>G Multiple submitters hereditary breast carcinoma
- c.2376+1G>A Multiple submitters hereditary breast carcinoma
- c.2376+1G>T Multiple submitters hereditary neoplastic syndrome
- c.2466+1del Multiple submitters hereditary breast carcinoma
- c.2466+1G>A Multiple submitters hereditary neoplastic syndrome
- c.2553_2638+61del Multiple submitters hereditary neoplastic syndrome
- c.2638+1G>T Multiple submitters ataxia telangiectasia
- c.2638+2T>C Multiple submitters hereditary neoplastic syndrome
- c.2638+2T>G Multiple submitters hereditary breast ovarian cancer syndrome
- c.2639-19_2639-7del Multiple submitters hereditary breast carcinoma
- c.2838+1G>A Multiple submitters hereditary neoplastic syndrome
- c.2838+1G>T Multiple submitters hereditary neoplastic syndrome
- c.2839-1G>A Multiple submitters ataxia telangiectasia
- c.2839-2A>G Multiple submitters hereditary neoplastic syndrome
- c.2839-3_2839delinsGATACTA Multiple submitters hereditary breast carcinoma
- c.2839-579_2839-576del Multiple submitters ATM-related cancer predisposition
- c.2921+1G>C Multiple submitters hereditary neoplastic syndrome
- c.2921+1G>T Multiple submitters hereditary breast carcinoma
- c.2922-1G>A Multiple submitters hereditary neoplastic syndrome
- c.2922-1G>T Multiple submitters hereditary neoplastic syndrome
- c.2922-2A>G Multiple submitters hereditary breast carcinoma
- c.2922-50_2940del Multiple submitters hereditary neoplastic syndrome
- c.3077+1G>A Multiple submitters hereditary neoplastic syndrome
- c.3077+1G>C Multiple submitters ataxia telangiectasia
- c.3077+1G>T Multiple submitters hereditary breast carcinoma
- c.3078-2A>C Multiple submitters hereditary breast carcinoma
- c.3078-2A>G Multiple submitters ataxia telangiectasia
- c.3154-1G>A Multiple submitters hereditary breast carcinoma
- c.3154-1G>T Multiple submitters ataxia telangiectasia
- c.3154-2A>G Multiple submitters hereditary neoplastic syndrome
- c.3284+1G>A Multiple submitters hereditary neoplastic syndrome
- c.3285-1G>T Multiple submitters ataxia telangiectasia
- c.331+1G>A Multiple submitters hereditary neoplastic syndrome
- c.331+5G>A Multiple submitters hereditary neoplastic syndrome
- c.3402+1G>A Multiple submitters hereditary breast carcinoma
- c.3402+3A>C Multiple submitters hereditary neoplastic syndrome
- c.3577-9_3583del Multiple submitters hereditary neoplastic syndrome
- c.3746+1G>A Multiple submitters ataxia telangiectasia
- c.3747-1G>A Multiple submitters hereditary neoplastic syndrome
- c.3747-1G>C Multiple submitters hereditary neoplastic syndrome
- c.3747-1G>T Multiple submitters hereditary neoplastic syndrome
- c.3747-2A>G Multiple submitters hereditary neoplastic syndrome
- c.3993+1G>A Multiple submitters hereditary neoplastic syndrome
- c.3993+1G>T Multiple submitters hereditary neoplastic syndrome
- c.3994-159A>G Multiple submitters hereditary neoplastic syndrome
- c.3994-1G>T Multiple submitters hereditary neoplastic syndrome
- c.3994-2A>G Multiple submitters hereditary neoplastic syndrome
- c.4110-1G>A Multiple submitters hereditary neoplastic syndrome
- c.4110-1G>C Multiple submitters familial colorectal cancer type X
- c.4110-2A>G Multiple submitters hereditary breast carcinoma
- c.4111del Multiple submitters ATM-related disorder
- c.4236+1G>A Multiple submitters ataxia telangiectasia
- c.4236+2T>C Multiple submitters hereditary breast ovarian cancer syndrome
- c.4436+1G>A Multiple submitters hereditary neoplastic syndrome
- c.4436+1G>T Multiple submitters hereditary breast carcinoma
- c.4436+2T>C Multiple submitters hereditary neoplastic syndrome
- c.4437-1G>C Multiple submitters ataxia telangiectasia
- c.4611_4611+9del Multiple submitters hereditary breast carcinoma
- c.4612-3_4616del Multiple submitters ATM-related disorder
- c.4776+1G>T Multiple submitters hereditary neoplastic syndrome
- c.4776+2_4776+13del Multiple submitters hereditary neoplastic syndrome
- c.4776+2T>A Multiple submitters hereditary neoplastic syndrome
- c.4776+2T>C Multiple submitters hereditary neoplastic syndrome
- c.4909+1del Multiple submitters hereditary breast carcinoma
- c.4909+1G>T Multiple submitters hereditary neoplastic syndrome
- c.4909+2T>C Multiple submitters hereditary breast carcinoma
- c.495_496+16del Multiple submitters hereditary neoplastic syndrome
- c.5177+5G>A Multiple submitters hereditary neoplastic syndrome
- c.5178-1G>A Multiple submitters ataxia telangiectasia
- c.5178-2A>G Multiple submitters ataxia telangiectasia
- c.5319+1G>T Multiple submitters hereditary neoplastic syndrome
- c.5319+2T>C Multiple submitters hereditary neoplastic syndrome
- c.5320-5_5320-2del Multiple submitters familial colorectal cancer type X
- c.5496+2_5496+5del Multiple submitters hereditary neoplastic syndrome
- c.5496+645T>G Multiple submitters ataxia telangiectasia
- c.5497-1G>A Multiple submitters hereditary neoplastic syndrome
- c.5497-2A>C Multiple submitters hereditary neoplastic syndrome
- c.5497-2A>G Multiple submitters ATM-related disorder
- c.5674+1G>T Multiple submitters hereditary neoplastic syndrome
- c.5762+1G>A Multiple submitters ataxia telangiectasia
- c.5762+1G>T Multiple submitters hereditary neoplastic syndrome
- c.5763-1G>T Multiple submitters familial colorectal cancer type X
- c.5763-2A>G Multiple submitters hereditary neoplastic syndrome
- c.5763-2A>T Multiple submitters hereditary breast carcinoma
- c.6006+1G>A Multiple submitters hereditary neoplastic syndrome
- c.6006+1G>C Multiple submitters hereditary breast carcinoma
- c.6006+1G>T Multiple submitters ataxia telangiectasia
- c.6095+1G>A Multiple submitters hereditary neoplastic syndrome
- c.6095+4A>G Multiple submitters hereditary neoplastic syndrome
- c.6096-2A>G Multiple submitters hereditary neoplastic syndrome
- c.6096-9_6096-5del Multiple submitters hereditary neoplastic syndrome
- c.6198+1G>A Multiple submitters Abnormal central motor function
- c.6198+2T>C Multiple submitters hereditary neoplastic syndrome
- c.6199-2A>C Multiple submitters hereditary neoplastic syndrome
- c.6347+1G>A Multiple submitters hereditary neoplastic syndrome
- c.6348-989del Multiple submitters ataxia telangiectasia
- c.6453-1_6457del Multiple submitters ataxia telangiectasia
- c.6572+1G>A Multiple submitters hereditary neoplastic syndrome
- c.6573-1G>C Multiple submitters hereditary neoplastic syndrome
- c.6573-2A>G Multiple submitters hereditary neoplastic syndrome
- c.6573-9G>A Multiple submitters hereditary breast carcinoma
- p.Glu2245fs Multiple submitters hereditary neoplastic syndrome
- c.6807+1G>C Multiple submitters hereditary neoplastic syndrome
- c.6807+2_6807+14del Multiple submitters ataxia telangiectasia
- c.6976-10_6989del Multiple submitters hereditary neoplastic syndrome
- c.6976-1G>T Multiple submitters hereditary breast carcinoma
- c.72+1del Multiple submitters ataxia telangiectasia
- c.72+1G>A Multiple submitters hereditary neoplastic syndrome
- c.72+2T>C Multiple submitters ataxia telangiectasia
- c.73-1G>A Multiple submitters hereditary neoplastic syndrome
- c.73-2A>G Multiple submitters ataxia telangiectasia
- c.73-3C>G Multiple submitters hereditary neoplastic syndrome
- c.7307+1G>A Multiple submitters hereditary neoplastic syndrome
- c.7308-2A>C Multiple submitters hereditary neoplastic syndrome
- c.75_78del Multiple submitters hereditary breast carcinoma
- c.7515+1G>A Multiple submitters hereditary breast carcinoma
- c.7515+1G>T Multiple submitters hereditary breast carcinoma
- c.7629_7629+4del Multiple submitters ataxia telangiectasia
- c.7629+1G>A Multiple submitters hereditary neoplastic syndrome
- c.7630-1G>A Multiple submitters hereditary neoplastic syndrome
- c.7630-2A>G Multiple submitters hereditary neoplastic syndrome
- c.7788+1G>C Multiple submitters ataxia telangiectasia
- c.7788+1G>T Multiple submitters hereditary neoplastic syndrome
- c.7788+3A>G Multiple submitters hereditary neoplastic syndrome
- c.7789-3T>G Multiple submitters ATM-related cancer predisposition
- c.7927+2T>C Multiple submitters ataxia telangiectasia
- c.8010+2T>G Multiple submitters ataxia telangiectasia
- c.8011-2A>G Multiple submitters hereditary neoplastic syndrome
- c.8151+1G>A Multiple submitters hereditary neoplastic syndrome
- c.8152-1G>A Multiple submitters hereditary neoplastic syndrome
- c.8152-1G>C Multiple submitters hereditary neoplastic syndrome
- c.8152-2A>G Multiple submitters hereditary neoplastic syndrome
- c.8269-1G>A Multiple submitters ataxia telangiectasia
- c.8269-1G>C Multiple submitters hereditary neoplastic syndrome
- c.8269-2A>T Multiple submitters hereditary neoplastic syndrome
- c.8416_8418+5del Multiple submitters hereditary breast carcinoma
- c.8418+1G>A Multiple submitters hereditary breast carcinoma
- c.8418+2T>C Multiple submitters hereditary neoplastic syndrome
- c.8418+5G>A Multiple submitters hereditary neoplastic syndrome
- c.8584+16A>G Multiple submitters hereditary neoplastic syndrome
- c.8584+1G>A Multiple submitters hereditary neoplastic syndrome
- c.8584+2T>A Multiple submitters ataxia telangiectasia
- c.8584+2T>C Multiple submitters ataxia telangiectasia
- c.8585-13_8598del Multiple submitters hereditary breast carcinoma
- c.8585-1G>A Multiple submitters hereditary neoplastic syndrome
- c.8585-2A>G Multiple submitters ataxia telangiectasia
- c.8672-1G>C Multiple submitters ataxia telangiectasia
- c.8786+1G>C Multiple submitters hereditary neoplastic syndrome
- c.8786+1G>T Multiple submitters ataxia telangiectasia
- c.8786+2T>A Multiple submitters ataxia telangiectasia
- c.8787-1G>A Multiple submitters ataxia telangiectasia
- c.8787-1G>C Multiple submitters hereditary neoplastic syndrome
- c.8787-2A>G Multiple submitters hereditary breast carcinoma
- c.8850+1G>A Multiple submitters Breast and/or ovarian cancer
- c.8850+1G>T Multiple submitters hereditary neoplastic syndrome
- c.8851-1G>T Multiple submitters hereditary neoplastic syndrome
- c.8987+1G>A Multiple submitters hereditary neoplastic syndrome
- c.8987+1G>C Multiple submitters hereditary neoplastic syndrome
- c.8988-1G>A Multiple submitters ATM-related cancer predisposition
- c.8988-1G>C Multiple submitters ataxia telangiectasia
- c.8988-2A>G Multiple submitters hereditary neoplastic syndrome
- c.901+1G>A Multiple submitters hereditary breast carcinoma
- c.901+1G>C Multiple submitters hereditary neoplastic syndrome
- c.901+1G>T Multiple submitters hereditary neoplastic syndrome
- c.901+2T>C Multiple submitters hereditary neoplastic syndrome
- c.901+2T>G Multiple submitters hereditary neoplastic syndrome
- c.902-1G>A Multiple submitters ataxia telangiectasia
- c.902-2A>T Multiple submitters ataxia telangiectasia
- p.Ala1211fs Multiple submitters ataxia telangiectasia
- p.Ala1309fs Multiple submitters hereditary neoplastic syndrome
- p.Ala1388fs Multiple submitters hereditary breast carcinoma
- p.Ala1931fs Multiple submitters hereditary neoplastic syndrome
- p.Ala1942Val Multiple submitters hereditary neoplastic syndrome
- p.Ala2045fs Multiple submitters hereditary neoplastic syndrome
- p.Ala2062fs Multiple submitters hereditary neoplastic syndrome
- p.Ala2067Asp Multiple submitters ATM-related disorder
- p.Ala2524Pro Multiple submitters ATM-related disorder
- p.Ala2622Val Multiple submitters hereditary neoplastic syndrome ⚠
- p.Ala2693fs Multiple submitters hereditary breast carcinoma
- p.Ala425fs Multiple submitters ataxia telangiectasia
- p.Arg1039fs Multiple submitters hereditary breast carcinoma
- p.Arg114fs Multiple submitters hereditary breast carcinoma
- p.Arg1730Ter Multiple submitters ATM-related cancer predisposition
- p.Arg1882Ter Multiple submitters ATM-related disorder
- p.Arg2032Lys Multiple submitters ATM-related cancer predisposition
- p.Arg2034Ter Multiple submitters hereditary neoplastic syndrome
- p.Arg2151fs Multiple submitters hereditary neoplastic syndrome
- p.Arg2227Cys Multiple submitters ATM-related disorder
- p.Arg2244fs Multiple submitters hereditary neoplastic syndrome
- p.Arg2486Ter Multiple submitters Inherited breast cancer and ovarian cancer
- p.Arg2547_Ser2549del Multiple submitters ATM-related cancer predisposition
- p.Arg2568_Asp2569insTer Multiple submitters ataxia telangiectasia
- p.Arg2748fs Multiple submitters hereditary neoplastic syndrome
- p.Arg2763fs Multiple submitters hereditary neoplastic syndrome
- p.Arg2790_Tyr2791insTer Multiple submitters ataxia telangiectasia
- p.Arg2790fs Multiple submitters hereditary neoplastic syndrome
- p.Arg2792fs Multiple submitters hereditary breast carcinoma
- p.Arg2849Ter Multiple submitters ATM-related disorder
- p.Arg2909Ter Multiple submitters hereditary neoplastic syndrome
- p.Arg2973_Glu2977delinsMetTer Multiple submitters ataxia telangiectasia
- p.Arg3008fs Multiple submitters ataxia telangiectasia
- p.Arg329fs Multiple submitters ataxia telangiectasia
- p.Arg35Ter Multiple submitters ATM-related disorder
- p.Arg568Ter Multiple submitters ataxia telangiectasia
- p.Asn1000fs Multiple submitters ataxia telangiectasia
- p.Asn1081fs Multiple submitters hereditary breast carcinoma
- p.Asn1094fs Multiple submitters ATM-related disorder
- p.Asn1430fs Multiple submitters ataxia telangiectasia
- p.Asn2343fs Multiple submitters hereditary neoplastic syndrome
- p.Asn2435fs Multiple submitters ataxia telangiectasia
- p.Asn2469fs Multiple submitters hereditary breast carcinoma
- p.Asn2565fs Multiple submitters hereditary neoplastic syndrome
- p.Asn2567fs Multiple submitters hereditary breast carcinoma
- p.Asn2985fs Multiple submitters hereditary neoplastic syndrome
- p.Asn3003fs Multiple submitters hereditary neoplastic syndrome
- p.Asn3044fs Multiple submitters hereditary breast carcinoma
- p.Asn591fs Multiple submitters hereditary breast carcinoma
- p.Asn619_Cys620insTer Multiple submitters hereditary neoplastic syndrome
- p.Asn6Ter Multiple submitters hereditary neoplastic syndrome
- p.Asp1067fs Multiple submitters ataxia telangiectasia
- p.Asp1285fs Multiple submitters hereditary breast carcinoma
- p.Asp1452fs Multiple submitters hereditary breast carcinoma
- p.Asp1725fs Multiple submitters ataxia telangiectasia
- p.Asp1815fs Multiple submitters hereditary breast carcinoma
- p.Asp1914_Tyr1915insTer Multiple submitters hereditary neoplastic syndrome
- p.Asp2625_Ala2626delinsGluPro Multiple submitters ATM-related disorder
- p.Asp2708Asn Multiple submitters ATM-related cancer predisposition ⚠
- p.Asp2913Tyr Multiple submitters ATM-related cancer predisposition
- p.Asp479fs Multiple submitters hereditary neoplastic syndrome
- p.Asp58fs Multiple submitters hereditary neoplastic syndrome
- p.Cys117fs Multiple submitters Inherited breast cancer and ovarian cancer
- p.Cys1366_Asp1367delinsTer Multiple submitters Inherited breast cancer and ovarian cancer
- p.Cys157Ter Multiple submitters hereditary neoplastic syndrome
- p.Cys1900fs Multiple submitters hereditary breast carcinoma
- p.Cys2464fs Multiple submitters hereditary breast carcinoma
- p.Cys2473fs Multiple submitters ataxia telangiectasia
- p.Cys2735fs Multiple submitters hereditary neoplastic syndrome
- p.Cys2835Ter Multiple submitters hereditary neoplastic syndrome
- p.Cys2931Ter Multiple submitters hereditary neoplastic syndrome
- p.Cys430_Glu431delinsTer Multiple submitters familial colorectal cancer type X
- p.Cys564Ter Multiple submitters hereditary breast carcinoma
- p.Cys819fs Multiple submitters hereditary breast carcinoma
- p.Cys977fs Multiple submitters hereditary neoplastic syndrome
- p.Gln1015Ter Multiple submitters hereditary breast carcinoma
- p.Gln1017Ter Multiple submitters hereditary breast carcinoma
- p.Gln1128fs Multiple submitters Inherited breast cancer and ovarian cancer
- p.Gln1171fs Multiple submitters ataxia telangiectasia
- p.Gln1310Ter Multiple submitters hereditary breast carcinoma
- p.Gln14_Leu15insTer Multiple submitters ATM-related cancer predisposition
- p.Gln1503Ter Multiple submitters hereditary breast carcinoma
- p.Gln1531Ter Multiple submitters hereditary neoplastic syndrome
- p.Gln1579Ter Multiple submitters hereditary neoplastic syndrome
- p.Gln1620fs Multiple submitters ataxia telangiectasia
- p.Gln1627fs Multiple submitters ataxia telangiectasia
- p.Gln1627Ter Multiple submitters hereditary neoplastic syndrome
- p.Gln1636Ter Multiple submitters hereditary neoplastic syndrome
- p.Gln163Ter Multiple submitters ATM-related disorder
- p.Gln1852Ter Multiple submitters hereditary breast carcinoma
- p.Gln1906Ter Multiple submitters hereditary breast carcinoma
- p.Gln1919Ter Multiple submitters ataxia telangiectasia
- p.Gln1970Ter Multiple submitters ATM-related cancer predisposition
- p.Gln1982Ter Multiple submitters hereditary neoplastic syndrome
- p.Gln201Ter Multiple submitters ATM-related cancer predisposition
- p.Gln2028fs Multiple submitters ataxia telangiectasia
- p.Gln2066Ter Multiple submitters ATM-related disorder
- p.Gln2177fs Multiple submitters hereditary breast carcinoma
- p.Gln2177Ter Multiple submitters ataxia telangiectasia
- p.Gln218Ter Multiple submitters hereditary neoplastic syndrome
- p.Gln2210fs Multiple submitters hereditary neoplastic syndrome
- p.Gln2210Ter Multiple submitters ataxia telangiectasia
- p.Gln2243Ter Multiple submitters hereditary breast carcinoma
- p.Gln2280fs Multiple submitters ataxia telangiectasia
- p.Gln2414fs Multiple submitters ATM-related disorder
Likely pathogenic 609
Showing the top 300 by review status; the full set is in the sitemap.
- c.2251-4A>G Expert panel ATM-related cancer predisposition
- c.2466+5G>C Expert panel ATM-related cancer predisposition
- c.5005+1G>T Expert panel ATM-related cancer predisposition
- c.7308-14T>G Expert panel ATM-related cancer predisposition
- c.8268+1G>A Expert panel ATM-related cancer predisposition
- c.8987+2T>A Expert panel ATM-related cancer predisposition
- p.Arg1095Lys Expert panel ATM-related cancer predisposition ⚠
- p.Arg1095Thr Expert panel ATM-related cancer predisposition
- p.Arg248Leu Expert panel ATM-related cancer predisposition
- p.Arg2832Cys Expert panel ATM-related cancer predisposition
- p.Arg2849Pro Expert panel ATM-related cancer predisposition
- p.Arg3008Cys Expert panel ATM-related cancer predisposition
- p.Arg3008His Expert panel ATM-related cancer predisposition
- p.Asp2016Gly Expert panel ATM-related cancer predisposition
- p.Asp2721Asn Expert panel ATM-related cancer predisposition
- p.Cys977Arg Expert panel ATM-related cancer predisposition
- p.Ile2702Arg Expert panel ATM-related cancer predisposition
- p.Leu1046Pro Expert panel ATM-related cancer predisposition
- p.Leu1465Pro Expert panel ATM-related cancer predisposition
- p.Leu2452Pro Expert panel ATM-related cancer predisposition
- p.Leu2767Pro Expert panel ATM-related cancer predisposition
- p.Leu3035Phe Expert panel ATM-related cancer predisposition
- p.Leu615Pro Expert panel ATM-related cancer predisposition
- p.Lys2717Thr Expert panel ATM-related cancer predisposition
- p.Phe2827Cys Expert panel ATM-related cancer predisposition
- p.Pro2829Leu Expert panel ATM-related cancer predisposition
- p.Pro292Leu Expert panel ATM-related cancer predisposition
- p.Tyr2627His Expert panel ATM-related cancer predisposition
- c.1066-1G>A Multiple submitters hereditary neoplastic syndrome
- c.1066-3_1072del Multiple submitters hereditary neoplastic syndrome
- c.1235+1G>A Multiple submitters ataxia telangiectasia
- c.1236-404C>T Multiple submitters hereditary neoplastic syndrome
- c.1608-1G>A Multiple submitters ataxia telangiectasia
- c.1783_1802+91del Multiple submitters ATM-related cancer predisposition
- c.1803-1G>A Multiple submitters hereditary neoplastic syndrome
- c.1803-2A>G Multiple submitters hereditary neoplastic syndrome
- c.185+1del Multiple submitters hereditary breast carcinoma
- c.185+1G>A Multiple submitters hereditary neoplastic syndrome
- c.186-1G>A Multiple submitters hereditary neoplastic syndrome
- c.186-1G>T Multiple submitters hereditary neoplastic syndrome
- c.1899-1_1902del Multiple submitters hereditary neoplastic syndrome
- c.2124+1del Multiple submitters hereditary neoplastic syndrome
- c.2124+1G>T Multiple submitters hereditary neoplastic syndrome
- c.2125-16_2128delinsCAAATTTATATT Multiple submitters hereditary breast carcinoma
- c.2125-1G>T Multiple submitters hereditary neoplastic syndrome
- c.2125-2_2128del Multiple submitters ataxia telangiectasia
- c.2125-2A>C Multiple submitters ataxia telangiectasia
- c.2251-1G>A Multiple submitters hereditary neoplastic syndrome
- c.2376+1G>C Multiple submitters hereditary breast carcinoma
- c.2376+2T>G Multiple submitters ataxia telangiectasia
- c.2466+2T>A Multiple submitters ataxia telangiectasia
- c.2466+2T>C Multiple submitters hereditary breast carcinoma
- c.2466+2T>G Multiple submitters hereditary neoplastic syndrome
- c.2467-1G>A Multiple submitters hereditary neoplastic syndrome
- c.2467-2A>G Multiple submitters Breast and/or ovarian cancer
- c.2467-2A>T Multiple submitters hereditary neoplastic syndrome
- c.2638+1del Multiple submitters hereditary neoplastic syndrome
- c.2639-2A>C Multiple submitters hereditary neoplastic syndrome
- c.2639-2A>G Multiple submitters hereditary breast carcinoma
- c.2829_2838+16delinsA Multiple submitters hereditary breast carcinoma
- c.2838+2T>A Multiple submitters hereditary breast carcinoma
- c.2921+2dup Multiple submitters hereditary breast carcinoma
- c.2921+3A>T Multiple submitters ataxia telangiectasia
- c.3153+1G>A Multiple submitters familial colorectal cancer type X
- c.3153+1G>T Multiple submitters hereditary breast carcinoma
- c.3153+5G>T Multiple submitters ataxia telangiectasia
- c.3154-1_3154delinsTT Multiple submitters hereditary breast carcinoma
- c.3284+1G>C Multiple submitters hereditary breast carcinoma
- c.331+1G>C Multiple submitters hereditary neoplastic syndrome
- c.331+2_331+7del Multiple submitters hereditary neoplastic syndrome
- c.331+2T>C Multiple submitters ataxia telangiectasia
- c.3402+1G>C Multiple submitters hereditary neoplastic syndrome
- c.3402+1G>T Multiple submitters hereditary breast carcinoma
- c.3402+2T>G Multiple submitters hereditary neoplastic syndrome
- c.3403-1G>A Multiple submitters hereditary neoplastic syndrome
- c.3573_3576+11del Multiple submitters hereditary breast carcinoma
- c.3576_3576+7del Multiple submitters hereditary neoplastic syndrome
- c.3576+1G>A Multiple submitters hereditary neoplastic syndrome
- c.3576+1G>T Multiple submitters hereditary neoplastic syndrome
- c.3577-1G>C Multiple submitters hereditary neoplastic syndrome
- c.3577-2A>G Multiple submitters ataxia telangiectasia
- c.3746+1G>T Multiple submitters ataxia telangiectasia
- c.3746+2T>A Multiple submitters ataxia telangiectasia
- c.3746+2T>C Multiple submitters hereditary breast carcinoma
- c.3746+2T>G Multiple submitters hereditary neoplastic syndrome
- c.3994-1G>A Multiple submitters hereditary neoplastic syndrome
- c.3994-2A>C Multiple submitters ATM-related disorder
- c.4109+1G>A Multiple submitters hereditary neoplastic syndrome
- c.4109+1G>T Multiple submitters ataxia telangiectasia
- c.4236+1_4236+2del Multiple submitters hereditary breast carcinoma
- c.4236+1G>C Multiple submitters ataxia telangiectasia
- c.4236+1G>T Multiple submitters prostate cancer, hereditary
- c.4426_4436+14del Multiple submitters ataxia telangiectasia
- c.4611+1del Multiple submitters hereditary neoplastic syndrome
- c.4611+1G>A Multiple submitters hereditary neoplastic syndrome
- c.4777-5_4795del Multiple submitters hereditary neoplastic syndrome
- c.4910-1G>T Multiple submitters ATM-related disorder
- c.4910-2A>G Multiple submitters hereditary neoplastic syndrome
- c.4910-2A>T Multiple submitters hereditary neoplastic syndrome
- c.496+1G>A Multiple submitters hereditary neoplastic syndrome
- c.496+1G>C Multiple submitters hereditary neoplastic syndrome
- c.496+334A>G Multiple submitters hereditary neoplastic syndrome
- c.497-1G>A Multiple submitters hereditary neoplastic syndrome
- c.497-1G>C Multiple submitters hereditary neoplastic syndrome
- c.497-2A>G Multiple submitters ataxia telangiectasia
- c.5005+1G>A Multiple submitters ataxia telangiectasia
- c.5006-1G>A Multiple submitters hereditary breast carcinoma
- c.5177+1del Multiple submitters ataxia telangiectasia
- c.5177+2T>C Multiple submitters ataxia telangiectasia
- c.5319+1G>A Multiple submitters hereditary neoplastic syndrome
- c.5320-2A>G Multiple submitters ataxia telangiectasia
- c.5320-2A>T Multiple submitters ataxia telangiectasia
- c.5496+1G>A Multiple submitters hereditary neoplastic syndrome
- c.5496+2T>C Multiple submitters hereditary neoplastic syndrome
- c.5496+2T>G Multiple submitters ataxia telangiectasia
- c.5674+1dup Multiple submitters hereditary neoplastic syndrome
- c.5918+1G>A Multiple submitters hereditary neoplastic syndrome
- c.5918+1G>T Multiple submitters hereditary neoplastic syndrome
- c.5918+2T>C Multiple submitters hereditary breast carcinoma
- c.5919-2A>C Multiple submitters ataxia telangiectasia
- c.5919-2A>G Multiple submitters hereditary neoplastic syndrome
- c.6007-1G>A Multiple submitters hereditary breast carcinoma
- c.6007-2A>G Multiple submitters ataxia telangiectasia
- c.6095+2T>A Multiple submitters ataxia telangiectasia
- c.6095+2T>C Multiple submitters ATM-related disorder
- c.6096-1G>C Multiple submitters hereditary neoplastic syndrome
- c.6348-1G>A Multiple submitters hereditary breast carcinoma
- c.6348-1G>C Multiple submitters hereditary breast carcinoma
- c.6348-2A>G Multiple submitters hereditary neoplastic syndrome
- c.6453-1G>C Multiple submitters hereditary breast carcinoma
- c.6453-2A>G Multiple submitters ataxia telangiectasia
- c.6572+1G>T Multiple submitters hereditary neoplastic syndrome
- c.6573-12C>A Multiple submitters hereditary neoplastic syndrome
- c.6573-1G>A Multiple submitters hereditary neoplastic syndrome
- c.662+1G>A Multiple submitters hereditary neoplastic syndrome
- c.663-2A>G Multiple submitters hereditary neoplastic syndrome
- c.6807+1_6807+7del Multiple submitters ataxia telangiectasia
- c.6807+1G>A Multiple submitters hereditary breast carcinoma
- c.6807+2T>C Multiple submitters hereditary neoplastic syndrome
- c.6808-1G>C Multiple submitters hereditary neoplastic syndrome
- c.6975+1G>A Multiple submitters hereditary neoplastic syndrome
- c.6975+1G>T Multiple submitters hereditary neoplastic syndrome
- c.6975+2T>C Multiple submitters hereditary breast carcinoma
- c.6976-2A>G Multiple submitters hereditary neoplastic syndrome
- c.7089+1G>A Multiple submitters hereditary neoplastic syndrome
- c.7089+2T>G Multiple submitters hereditary neoplastic syndrome
- c.7090-2A>T Multiple submitters hereditary neoplastic syndrome
- c.7308-1G>C Multiple submitters hereditary neoplastic syndrome
- c.7515+1G>C Multiple submitters hereditary neoplastic syndrome
- c.7516-1G>A Multiple submitters hereditary breast carcinoma
- c.7516-1G>C Multiple submitters hereditary neoplastic syndrome
- c.7516-1G>T Multiple submitters hereditary breast carcinoma
- c.7516-2A>G Multiple submitters hereditary neoplastic syndrome
- c.7629+1del Multiple submitters ataxia telangiectasia
- c.7629+1G>T Multiple submitters hereditary neoplastic syndrome
- c.7789-1G>A Multiple submitters hereditary neoplastic syndrome
- c.7927+1G>A Multiple submitters ataxia telangiectasia
- c.7927+1G>C Multiple submitters hereditary neoplastic syndrome
- c.8010+1del Multiple submitters ataxia telangiectasia
- c.8010+1G>A Multiple submitters ataxia telangiectasia
- c.8010+1G>C Multiple submitters hereditary breast carcinoma
- c.8010+2T>C Multiple submitters ataxia telangiectasia
- c.8011-1G>C Multiple submitters hereditary neoplastic syndrome
- c.8148_8151+2del Multiple submitters hereditary neoplastic syndrome
- c.8268+1G>T Multiple submitters hereditary neoplastic syndrome
- c.8268+2T>C Multiple submitters hereditary breast carcinoma
- c.8418+1_8418+3del Multiple submitters hereditary breast carcinoma
- c.8419-1G>A Multiple submitters ataxia telangiectasia
- c.8419-1G>C Multiple submitters hereditary neoplastic syndrome
- c.8419-2A>C Multiple submitters hereditary breast carcinoma
- c.8584+1G>C Multiple submitters hereditary breast carcinoma
- c.8671+1G>A Multiple submitters ataxia telangiectasia
- c.8671+1G>C Multiple submitters ataxia telangiectasia
- c.8671+1G>T Multiple submitters hereditary neoplastic syndrome
- c.8671+2del Multiple submitters hereditary breast carcinoma
- c.8672-1G>A Multiple submitters hereditary breast carcinoma
- c.8786_8786+3del Multiple submitters ataxia telangiectasia
- c.8787-1dup Multiple submitters ataxia telangiectasia
- c.8850+2T>C Multiple submitters hereditary neoplastic syndrome
- c.8851-2A>G Multiple submitters hereditary neoplastic syndrome
- c.8851-4_8852del Multiple submitters ataxia telangiectasia
- c.901+1_901+26del Multiple submitters hereditary neoplastic syndrome
- p.Ala20Gly Multiple submitters hereditary neoplastic syndrome ⚠
- p.Arg2642Ser Multiple submitters hereditary neoplastic syndrome
- p.Arg3047fs Multiple submitters hereditary breast carcinoma
- p.Asp2597Tyr Multiple submitters ataxia telangiectasia ⚠
- p.Asp2708His Multiple submitters hereditary neoplastic syndrome
- p.Cys2624Ter Multiple submitters hereditary breast carcinoma
- p.Cys819Arg Multiple submitters ATM-related cancer predisposition
- p.Gln2730Pro Multiple submitters ataxia telangiectasia
- p.Glu2904Gly Multiple submitters hereditary neoplastic syndrome
- p.Gly2765Ala Multiple submitters ataxia telangiectasia
- p.Gly3023fs Multiple submitters ataxia telangiectasia
- p.Leu2068Ser Multiple submitters hereditary neoplastic syndrome
- p.Leu950Arg Multiple submitters hereditary neoplastic syndrome
- p.Lys2363Asn Multiple submitters hereditary neoplastic syndrome
- p.Phe582fs Multiple submitters ataxia telangiectasia
- p.Ter3057Arg Multiple submitters hereditary breast carcinoma
- p.Ter3057Gly Multiple submitters ataxia telangiectasia
- p.Ter3057Ser Multiple submitters ataxia telangiectasia
- p.Trp412Ser Multiple submitters ATM-related disorder
- p.Tyr2080Asp Multiple submitters hereditary neoplastic syndrome
- p.Tyr2677Cys Multiple submitters hereditary neoplastic syndrome
- p.Val2115fs Multiple submitters ataxia telangiectasia
- p.Pro2222fs Single submitter hereditary breast carcinoma
- p.Ile2559fs Single submitter ataxia telangiectasia
- p.Arg2832fs Single submitter ataxia telangiectasia
- p.Phe3049fs Single submitter ataxia telangiectasia
- c.1062_1065+5del Single submitter hereditary breast carcinoma
- c.1065+1G>C Single submitter hereditary neoplastic syndrome
- c.1066-1_1081del Single submitter ataxia telangiectasia
- c.1092_1235+363del Single submitter ataxia telangiectasia
- c.1092_1235+363delinsCTT Single submitter ataxia telangiectasia
- c.1235+1del Single submitter
- c.1235+1dup Single submitter hereditary breast carcinoma
- c.1235+1G>C Single submitter ataxia telangiectasia
- c.1235+2_1235+10del Single submitter hereditary neoplastic syndrome
- c.1235+2T>A Single submitter ataxia telangiectasia
- c.1235+2T>C Single submitter ataxia telangiectasia
- c.1235+97C>G Single submitter hereditary neoplastic syndrome
- c.1607+1del Single submitter hereditary neoplastic syndrome
- c.1607+2T>A Single submitter hereditary breast carcinoma
- c.1608-1G>C Single submitter ataxia telangiectasia
- c.1608-2A>C Single submitter ataxia telangiectasia
- c.1668_2466+1284del Single submitter ataxia telangiectasia
- c.1803-1G>C Single submitter hereditary breast carcinoma
- c.1803-1G>T Single submitter hereditary breast carcinoma
- c.1803-275A>G Single submitter hereditary neoplastic syndrome
- c.1803-4_1808del Single submitter
- c.186-1_197del Single submitter hereditary breast carcinoma
- c.186-1del Single submitter hereditary neoplastic syndrome
- c.186-1G>C Single submitter hereditary neoplastic syndrome
- c.186-2A>G Single submitter ataxia telangiectasia
- c.1898+1_1898+3delinsCTT Single submitter hereditary neoplastic syndrome
- c.1899-20A>C Single submitter hereditary neoplastic syndrome
- c.1899-3_1899-2delinsTG Single submitter ataxia telangiectasia
- c.1899-8_1904del Single submitter ataxia telangiectasia
- c.2074_2124+280del Single submitter ataxia telangiectasia
- c.2124+1G>C Single submitter hereditary neoplastic syndrome
- c.2125-15_2128del Single submitter ataxia telangiectasia
- c.2125-1G>A Single submitter ataxia telangiectasia
- c.2125-1G>C Single submitter ataxia telangiectasia
- c.2125-2A>G Single submitter hereditary neoplastic syndrome
- c.2125-910T>G Single submitter hereditary neoplastic syndrome
- c.2251-2A>C Single submitter hereditary neoplastic syndrome
- c.2251-8_2254del Single submitter ataxia telangiectasia
- c.2369_2376+12del Single submitter ataxia telangiectasia
- c.2376_2376+1delinsTT Single submitter hereditary breast carcinoma
- c.2376+2dup Single submitter hereditary neoplastic syndrome
- c.2376+2T>C Single submitter ataxia telangiectasia
- c.2377-2A>T Single submitter ataxia telangiectasia
- c.2464_2466+4del Single submitter hereditary neoplastic syndrome
- c.2467-?_8850+?dup6384 Single submitter ataxia telangiectasia
- c.2638+1G>A Single submitter hereditary neoplastic syndrome
- c.2639-2A>T Single submitter hereditary breast carcinoma
- c.2839-3insALU Single submitter hereditary neoplastic syndrome
- c.2910_2921+10del Single submitter breast cancer
- c.3078-11C>G Single submitter hereditary neoplastic syndrome
- c.3078-1G>T Single submitter hereditary breast carcinoma
- c.3078-2A>T Single submitter hereditary neoplastic syndrome
- c.3078-9T>G Single submitter ataxia telangiectasia
- c.3153+2T>C Single submitter ataxia telangiectasia
- c.3154-2A>C Single submitter hereditary breast carcinoma
- c.3167_3168insALU Single submitter hereditary neoplastic syndrome
- c.3284+2T>C Single submitter hereditary breast carcinoma
- c.3284+695G>T Single submitter ataxia telangiectasia
- c.3284+699A>C Single submitter ataxia telangiectasia
- c.3285-1486_6007-1138dup Single submitter
- c.3285-2A>C Single submitter ATM-related disorder
- c.3285-8_3285del Single submitter hereditary neoplastic syndrome
- c.(331+1_332-1 Single submitter ataxia telangiectasia
- c.331+2del Single submitter hereditary breast carcinoma
- c.332-1G>C Single submitter hereditary neoplastic syndrome
- c.332-3_347del Single submitter ataxia telangiectasia
- c.3402+2T>C Single submitter hereditary neoplastic syndrome
- c.3403-1G>T Single submitter ataxia telangiectasia
- c.3403-2A>T Single submitter ataxia telangiectasia
- c.345_346insALU Single submitter hereditary neoplastic syndrome
- c.3571_3576+1del Single submitter ataxia telangiectasia
- c.3577-1G>A Single submitter hereditary neoplastic syndrome
- c.3577-1G>T Single submitter hereditary neoplastic syndrome
- c.3577-201_3604delinsATCAAGAAAAGTTGAATGAATGTT Single submitter hereditary neoplastic syndrome
- c.3746+1G>C Single submitter hereditary neoplastic syndrome
- c.3746+3A>T Single submitter hereditary neoplastic syndrome
- c.3746+452_4363del Single submitter ataxia telangiectasia
- c.3747-210T>A Single submitter hereditary neoplastic syndrome
- c.3747-2A>C Single submitter ataxia telangiectasia
- c.3747-3_3751del Single submitter ataxia telangiectasia
- c.3862_3863insALU Single submitter hereditary neoplastic syndrome
- c.3993+2T>A Single submitter hereditary neoplastic syndrome
- c.3994-161G>A Single submitter hereditary neoplastic syndrome
- c.3994-1G>C Single submitter hereditary breast carcinoma
- c.3994-2A>T Single submitter hereditary breast carcinoma
- c.4109+2T>C Single submitter hereditary breast carcinoma
- c.4110-19_4115del Single submitter hereditary breast carcinoma
- c.4236+1del Single submitter ataxia telangiectasia
- c.4236+2_4236+3dup Single submitter hereditary breast carcinoma
- c.4236+2T>A Single submitter ataxia telangiectasia
- c.4236+2T>G Single submitter hereditary neoplastic syndrome
- c.4236+4A>G Single submitter hereditary neoplastic syndrome
Conflicting classifications of pathogenicity 1450
Showing the top 300 by review status; the full set is in the sitemap.
- p.Leu2173= Single submitter hereditary neoplastic syndrome
- p.Glu2181Asp Single submitter ataxia telangiectasia
- p.Thr2396Ser Single submitter ataxia telangiectasia ⚠
- p.Leu2877= Single submitter hereditary neoplastic syndrome
- p.Phe3002Leu Single submitter hereditary neoplastic syndrome
- p.Val3025fs Single submitter hereditary neoplastic syndrome ⚠
- c.1065+19G>A Single submitter hereditary neoplastic syndrome
- c.1065+4C>T Single submitter hereditary neoplastic syndrome
- c.1065+5A>T Single submitter hereditary neoplastic syndrome
- c.1235+3A>G Single submitter hereditary breast carcinoma
- c.1235+4_1235+5del Single submitter hereditary neoplastic syndrome
- c.1235+5A>T Single submitter hereditary neoplastic syndrome
- c.1236-3_1236-2insC Single submitter ataxia telangiectasia ⚠
- c.1236-3T>C Single submitter hereditary neoplastic syndrome
- c.1236-5T>C Single submitter hereditary neoplastic syndrome
- c.1607+162A>G Single submitter ataxia telangiectasia
- c.1607+20T>C Single submitter hereditary neoplastic syndrome
- c.1608-11T>C Single submitter hereditary breast carcinoma
- c.1608-3T>C Single submitter hereditary neoplastic syndrome
- c.1608-8del Single submitter hereditary breast carcinoma
- c.1799_1802+5del Single submitter hereditary neoplastic syndrome
- c.1802+1del Single submitter ataxia telangiectasia ⚠
- c.1802+35_1802+36del Single submitter
- c.1803-7T>C Single submitter hereditary breast carcinoma
- c.185+4T>A Single submitter hereditary neoplastic syndrome
- c.185+6C>G Single submitter hereditary neoplastic syndrome
- c.185+6C>T Single submitter ataxia telangiectasia
- c.186-8del Single submitter hereditary neoplastic syndrome
- c.1898+3A>G Single submitter Breast and/or ovarian cancer
- c.1899-10T>G Single submitter Breast and/or ovarian cancer
- c.1899-11C>G Single submitter hereditary neoplastic syndrome
- c.1899-14T>C Single submitter hereditary neoplastic syndrome
- c.1899-16T>A Single submitter hereditary neoplastic syndrome
- c.1899-4G>A Single submitter ataxia telangiectasia
- c.1899-5T>C Single submitter hereditary breast carcinoma
- c.1899-7C>A Single submitter hereditary neoplastic syndrome
- c.1899-8dup Single submitter ataxia telangiectasia
- c.1899-8T>C Single submitter hereditary breast carcinoma
- c.2124+6A>T Single submitter hereditary neoplastic syndrome
- c.2125-11T>A Single submitter hereditary neoplastic syndrome
- c.2125-12del Single submitter hereditary neoplastic syndrome
- c.2125-14T>C Single submitter ataxia telangiectasia
- c.2125-3A>C Single submitter hereditary neoplastic syndrome
- c.2125-4T>C Single submitter hereditary breast carcinoma
- c.2125-7_2125-3del Single submitter hereditary neoplastic syndrome
- c.2125-8A>G Single submitter hereditary breast carcinoma
- c.2250+13A>G Single submitter hereditary neoplastic syndrome
- c.2250+4G>A Single submitter hereditary neoplastic syndrome
- c.2250+7G>A Single submitter hereditary breast carcinoma
- c.2251-14T>A Single submitter ataxia telangiectasia
- c.2251-18T>G Single submitter hereditary neoplastic syndrome
- c.2251-3T>C Single submitter hereditary neoplastic syndrome
- c.2251-3T>G Single submitter ataxia telangiectasia
- c.2251-5A>T Single submitter ataxia telangiectasia
- c.2251-6C>T Single submitter hereditary breast carcinoma
- c.2251-7A>G Single submitter hereditary breast carcinoma
- c.2376+17C>G Single submitter hereditary neoplastic syndrome
- c.2376+3A>G Single submitter hereditary neoplastic syndrome
- c.2376+3A>T Single submitter hereditary neoplastic syndrome
- c.2376+6A>C Single submitter hereditary neoplastic syndrome
- c.2376+7T>C Single submitter ataxia telangiectasia
- c.2377-10T>C Single submitter hereditary breast carcinoma
- c.2377-11C>G Single submitter hereditary neoplastic syndrome
- c.2377-19T>G Single submitter hereditary neoplastic syndrome
- c.2377-2A>G Single submitter hereditary neoplastic syndrome ⚠
- c.2377-3C>T Single submitter ataxia telangiectasia
- c.2377-5T>C Single submitter hereditary neoplastic syndrome
- c.2377-6T>A Single submitter hereditary neoplastic syndrome
- c.2377-9T>A Single submitter hereditary neoplastic syndrome
- c.2466+1552G>C Single submitter hereditary neoplastic syndrome
- c.2466+5G>A Single submitter hereditary neoplastic syndrome
- c.2466+8T>A Single submitter hereditary neoplastic syndrome
- c.2466+9G>T Single submitter hereditary breast carcinoma
- c.2467-12T>C Single submitter hereditary breast carcinoma
- c.2467-13C>G Single submitter hereditary neoplastic syndrome
- c.2467-2A>C Single submitter hereditary neoplastic syndrome ⚠
- c.2467-4G>A Single submitter hereditary breast carcinoma
- c.2467-7C>T Single submitter hereditary neoplastic syndrome
- c.2467-8C>G Single submitter ataxia telangiectasia
- c.2638+304C>A Single submitter hereditary neoplastic syndrome
- c.2638+3A>G Single submitter hereditary neoplastic syndrome
- c.2638+5A>G Single submitter hereditary neoplastic syndrome
- c.2638+6T>C Single submitter hereditary neoplastic syndrome
- c.2639-21A>G Single submitter ataxia telangiectasia
- c.2639-384A>G Single submitter hereditary breast carcinoma
- c.2639-3T>C Single submitter hereditary neoplastic syndrome
- c.2639-7_2639-2del Single submitter ataxia telangiectasia ⚠
- c.2838+10G>A Single submitter hereditary neoplastic syndrome
- c.2838+4A>G Single submitter hereditary neoplastic syndrome
- c.2838+6T>C Single submitter ataxia telangiectasia
- c.2838+8A>G Single submitter ataxia telangiectasia
- c.2839-11T>C Single submitter hereditary neoplastic syndrome
- c.2839-5C>G Single submitter hereditary neoplastic syndrome
- c.2839-6T>C Single submitter ataxia telangiectasia
- c.2839-7A>G Single submitter hereditary neoplastic syndrome
- c.2839-8C>A Single submitter hereditary neoplastic syndrome
- c.2922-13T>C Single submitter hereditary neoplastic syndrome
- c.2922-4A>G Single submitter hereditary neoplastic syndrome
- c.2922-5C>T Single submitter hereditary neoplastic syndrome
- c.2922-6C>A Single submitter hereditary neoplastic syndrome
- c.2922-8T>A Single submitter hereditary neoplastic syndrome
- c.3077+3A>G Single submitter ataxia telangiectasia
- c.3077+4G>A Single submitter hereditary neoplastic syndrome
- c.3077+4G>T Single submitter hereditary neoplastic syndrome
- c.3077+9A>G Single submitter hereditary breast carcinoma
- c.3077+9del Single submitter hereditary neoplastic syndrome
- c.3078-17A>G Single submitter ataxia telangiectasia
- c.3078-5T>C Single submitter hereditary neoplastic syndrome
- c.3153+5G>C Single submitter hereditary neoplastic syndrome
- c.3153+9T>C Single submitter hereditary neoplastic syndrome
- c.3154-12C>A Single submitter hereditary neoplastic syndrome
- c.3154-3T>C Single submitter hereditary neoplastic syndrome
- c.3154-4G>A Single submitter Breast and/or ovarian cancer
- c.3154-5C>T Single submitter ATM-related cancer predisposition
- c.3284+4del Single submitter hereditary breast carcinoma
- c.3284+8dup Single submitter ataxia telangiectasia
- c.3285-12G>A Single submitter hereditary neoplastic syndrome
- c.3285-14T>C Single submitter hereditary neoplastic syndrome
- c.3285-5T>C Single submitter hereditary neoplastic syndrome
- c.3285-7T>C Single submitter hereditary neoplastic syndrome
- c.3285-9_3285-5delinsGTTC Single submitter hereditary breast carcinoma
- c.331+2800A>G Single submitter hereditary neoplastic syndrome
- c.331+2dup Single submitter ataxia telangiectasia ⚠
- c.331+5G>C Single submitter hereditary neoplastic syndrome
- c.331+6T>G Single submitter hereditary neoplastic syndrome
- c.332-3T>C Single submitter hereditary neoplastic syndrome
- c.332-7G>A Single submitter hereditary breast carcinoma
- c.332-7G>T Single submitter Breast and/or ovarian cancer
- c.3403-15delinsAA Single submitter hereditary neoplastic syndrome
- c.3403-3A>C Single submitter hereditary breast carcinoma
- c.3403-8_3403-4del Single submitter hereditary neoplastic syndrome
- c.3403-9C>A Single submitter ataxia telangiectasia
- c.3577-14_3577-12del Single submitter hereditary neoplastic syndrome
- c.3577-3C>A Single submitter ataxia telangiectasia
- c.3577-5T>C Single submitter hereditary neoplastic syndrome
- c.3746+18A>G Single submitter hereditary neoplastic syndrome
- c.3746+4A>C Single submitter hereditary neoplastic syndrome
- c.3746+4A>G Single submitter hereditary neoplastic syndrome
- c.3746+5G>A Single submitter hereditary neoplastic syndrome
- c.3747-16A>G Single submitter hereditary neoplastic syndrome
- c.3993+10C>T Single submitter hereditary neoplastic syndrome
- c.3993+2T>C Single submitter hereditary breast carcinoma ⚠
- c.3993+4T>C Single submitter ataxia telangiectasia
- c.3993+5G>A Single submitter hereditary neoplastic syndrome
- c.3994-12G>T Single submitter hereditary neoplastic syndrome
- c.3994-14T>G Single submitter hereditary neoplastic syndrome
- c.3994-152T>C Single submitter hereditary neoplastic syndrome
- c.3994-160T>C Single submitter hereditary neoplastic syndrome
- c.4109+2dup Single submitter hereditary neoplastic syndrome ⚠
- c.4109+4T>A Single submitter hereditary breast carcinoma
- c.4109+4T>C Single submitter ataxia telangiectasia
- c.4109+5G>A Single submitter hereditary breast carcinoma
- c.4109+6T>C Single submitter hereditary neoplastic syndrome
- c.4110-4T>C Single submitter Breast and/or ovarian cancer
- c.4110-5G>C Single submitter hereditary neoplastic syndrome
- c.4110-9C>A Single submitter ataxia telangiectasia
- c.4110-9C>G Single submitter hereditary neoplastic syndrome
- c.4237-2A>G Single submitter ataxia telangiectasia ⚠
- c.4237-8T>C Single submitter hereditary neoplastic syndrome
- c.4436+10A>G Single submitter hereditary breast carcinoma
- c.4436+3A>G Single submitter ataxia telangiectasia
- c.4436+5A>G Single submitter ataxia telangiectasia
- c.4437-3T>C Single submitter ataxia telangiectasia
- c.4437-5A>G Single submitter hereditary neoplastic syndrome
- c.4437-7dup Single submitter ataxia telangiectasia
- c.4611+6T>C Single submitter hereditary neoplastic syndrome
- c.4612-2A>C Single submitter lung cancer ⚠
- c.4612-4T>G Single submitter hereditary neoplastic syndrome
- c.4612-5T>C Single submitter ataxia telangiectasia
- c.4612-8A>G Single submitter hereditary breast carcinoma
- c.4777-10_4777-7delinsCTCTTTTAGTTACATTTACATTTTAGTTAA Single submitter hereditary neoplastic syndrome
- c.4777-3T>C Single submitter hereditary neoplastic syndrome
- c.4777-6T>C Single submitter ataxia telangiectasia
- c.4777-7C>G Single submitter ataxia telangiectasia
- c.4777-7C>T Single submitter hereditary neoplastic syndrome
- c.4909+17A>G Single submitter hereditary neoplastic syndrome
- c.4909+3G>A Single submitter hereditary neoplastic syndrome
- c.4909+4C>T Single submitter hereditary neoplastic syndrome
- c.4909+5T>C Single submitter hereditary neoplastic syndrome
- c.4910-16A>T Single submitter Breast and/or ovarian cancer
- c.4910-5T>C Single submitter hereditary neoplastic syndrome
- c.4910-9T>C Single submitter ataxia telangiectasia
- c.496+3A>G Single submitter hereditary neoplastic syndrome
- c.496+4T>G Single submitter ataxia telangiectasia
- c.497-1G>T Single submitter ataxia telangiectasia ⚠
- c.497-2661A>G Single submitter hereditary neoplastic syndrome
- c.497-3A>G Single submitter hereditary neoplastic syndrome
- c.497-4T>A Single submitter hereditary neoplastic syndrome
- c.497-5T>C Single submitter ataxia telangiectasia
- c.497-9T>G Single submitter hereditary neoplastic syndrome
- c.5005+15T>A Single submitter ataxia telangiectasia
- c.5005+19C>G Single submitter ATM-related cancer predisposition
- c.5005+2T>C Single submitter ataxia telangiectasia ⚠
- c.5005+7T>C Single submitter ataxia telangiectasia
- c.5006-12T>G Single submitter hereditary neoplastic syndrome
- c.5006-13T>C Single submitter ataxia telangiectasia
- c.5006-2A>G Single submitter hereditary neoplastic syndrome ⚠
- c.5006-4G>T Single submitter hereditary neoplastic syndrome
- c.5006-5T>C Single submitter hereditary neoplastic syndrome
- c.5006-8A>G Single submitter hereditary breast carcinoma
- c.5177+3_5177+6del Single submitter ataxia telangiectasia
- c.5177+3G>A Single submitter hereditary neoplastic syndrome
- c.5178-11G>A Single submitter hereditary neoplastic syndrome
- c.5178-11G>T Single submitter hereditary neoplastic syndrome
- c.5178-3del Single submitter hereditary neoplastic syndrome
- c.5178-4dup Single submitter hereditary neoplastic syndrome
- c.5178-5T>C Single submitter hereditary neoplastic syndrome
- c.5178-6T>C Single submitter hereditary breast carcinoma
- c.5178-7T>C Single submitter Breast and/or ovarian cancer
- c.5319_5319+8delinsTGTTTG Single submitter hereditary neoplastic syndrome
- c.5319+3C>A Single submitter hereditary neoplastic syndrome
- c.5319+4T>A Single submitter hereditary neoplastic syndrome
- c.5319+6_5319+7del Single submitter hereditary neoplastic syndrome
- c.5319+7T>A Single submitter hereditary neoplastic syndrome
- c.5319+8A>G Single submitter hereditary neoplastic syndrome
- c.5320-10T>C Single submitter hereditary neoplastic syndrome
- c.5320-12C>G Single submitter hereditary neoplastic syndrome
- c.5320-3T>C Single submitter hereditary breast carcinoma
- c.5497-10T>C Single submitter hereditary neoplastic syndrome
- c.5497-15G>C Single submitter Breast and/or ovarian cancer
- c.5674+6C>G Single submitter hereditary breast carcinoma
- c.5675-13T>A Single submitter hereditary neoplastic syndrome
- c.5675-3C>G Single submitter hereditary neoplastic syndrome
- c.5675-4T>A Single submitter hereditary neoplastic syndrome
- c.5675-5G>C Single submitter hereditary neoplastic syndrome
- c.5675-7_5675-4del Single submitter hereditary neoplastic syndrome
- c.5762+6G>A Single submitter hereditary neoplastic syndrome
- c.5763-1056G>A Single submitter ATM-related cancer predisposition
- c.5763-5T>C Single submitter hereditary neoplastic syndrome
- c.5918+14G>T Single submitter ataxia telangiectasia
- c.5918+8A>C Single submitter hereditary neoplastic syndrome
- c.5919-12T>C Single submitter ataxia telangiectasia
- c.5919-13T>C Single submitter hereditary breast carcinoma
- c.5919-8A>G Single submitter hereditary neoplastic syndrome
- c.6006+3A>C Single submitter ataxia telangiectasia
- c.6007-5T>C Single submitter hereditary neoplastic syndrome
- c.6095+5A>G Single submitter hereditary neoplastic syndrome
- c.6095+5del Single submitter hereditary neoplastic syndrome
- c.6096-14A>G Single submitter hereditary neoplastic syndrome
- c.6096-3T>C Single submitter hereditary neoplastic syndrome
- c.6198+3A>C Single submitter hereditary neoplastic syndrome
- c.6198+3A>G Single submitter hereditary neoplastic syndrome
- c.6198+5A>G Single submitter ataxia telangiectasia
- c.6199-3T>C Single submitter hereditary neoplastic syndrome
- c.6199-5T>A Single submitter hereditary neoplastic syndrome
- c.6199-7T>A Single submitter hereditary neoplastic syndrome
- c.6347+6A>C Single submitter hereditary neoplastic syndrome
- c.6348-3C>T Single submitter hereditary neoplastic syndrome
- c.6348-4A>G Single submitter ataxia telangiectasia
- c.6348-5C>A Single submitter ataxia telangiectasia
- c.6348-5C>T Single submitter hereditary neoplastic syndrome
- c.6348-7C>G Single submitter hereditary neoplastic syndrome
- c.6348-8T>A Single submitter hereditary breast carcinoma
- c.6348-9A>T Single submitter ataxia telangiectasia
- c.6452+2T>C Single submitter ataxia telangiectasia ⚠
- c.6452+5T>A Single submitter familial colorectal cancer type X
- c.6452+6A>T Single submitter ataxia telangiectasia
- c.6453-14T>A Single submitter ataxia telangiectasia
- c.6453-15C>T Single submitter hereditary neoplastic syndrome
- c.6453-3T>C Single submitter hereditary neoplastic syndrome
- c.6453-5A>G Single submitter hereditary breast carcinoma
- c.6572+11C>T Single submitter hereditary neoplastic syndrome
- c.6572+3A>G Single submitter ataxia telangiectasia
- c.6572+4T>C Single submitter hereditary neoplastic syndrome
- c.6573-11G>A Single submitter hereditary neoplastic syndrome
- c.6573-5T>C Single submitter hereditary breast carcinoma
- c.662+6C>G Single submitter hereditary neoplastic syndrome
- c.662+8_662+9dup Single submitter hereditary breast carcinoma
- c.663-5C>A Single submitter hereditary neoplastic syndrome
- c.663-5C>T Single submitter hereditary breast carcinoma
- c.6807+5A>G Single submitter hereditary breast carcinoma
- c.6807+8del Single submitter hereditary neoplastic syndrome
- c.6808-13A>G Single submitter ataxia telangiectasia
- c.6808-1G>A Single submitter ataxia telangiectasia ⚠
- c.6808-6_6808-2del Single submitter hereditary neoplastic syndrome ⚠
- c.6808-6T>C Single submitter hereditary neoplastic syndrome
- c.6808-7A>G Single submitter hereditary neoplastic syndrome
- c.6975+13del Single submitter hereditary neoplastic syndrome
- c.6975+4T>A Single submitter hereditary breast carcinoma
- c.6975+4T>G Single submitter hereditary neoplastic syndrome
- c.6975+5del Single submitter hereditary neoplastic syndrome
- c.6975+5G>T Single submitter hereditary neoplastic syndrome
- c.6975+7T>A Single submitter hereditary neoplastic syndrome
- c.6976-3C>G Single submitter ataxia telangiectasia
- c.6976-6dup Single submitter hereditary breast ovarian cancer syndrome
- c.7089+5G>A Single submitter hereditary neoplastic syndrome
- c.7090-14G>A Single submitter hereditary breast carcinoma
- c.72+4G>A Single submitter hereditary neoplastic syndrome
- c.72+6A>G Single submitter ataxia telangiectasia
- c.73-3C>T Single submitter hereditary neoplastic syndrome
- c.73-9T>C Single submitter ataxia telangiectasia
- c.7307+18A>G Single submitter hereditary neoplastic syndrome
- c.7307+2dup Single submitter hereditary neoplastic syndrome ⚠
- c.7307+3_7307+4insGTTC Single submitter hereditary neoplastic syndrome
- c.7307+4A>G Single submitter hereditary neoplastic syndrome
- c.7308-10T>G Single submitter ataxia telangiectasia
- c.7308-11T>C Single submitter ataxia telangiectasia
- c.7308-6T>C Single submitter hereditary breast carcinoma
- c.7308-7A>G Single submitter hereditary neoplastic syndrome
- c.7515+19A>T Single submitter hereditary neoplastic syndrome
Benign 359
Showing the top 300 by review status; the full set is in the sitemap.
- c.1066-6T>G Expert panel ATM-related cancer predisposition
- c.2639-17G>T Expert panel ATM-related cancer predisposition
- p.Ala1309Thr Expert panel ATM-related cancer predisposition
- p.Asn358Ser Expert panel ATM-related cancer predisposition
- p.Gly392= Expert panel ATM-related cancer predisposition
- p.Leu2332Pro Expert panel ATM-related cancer predisposition
- p.Met1040Val Expert panel ATM-related cancer predisposition
- p.Pro604Ser Expert panel ATM-related cancer predisposition
- p.Pro872Ser Expert panel ATM-related cancer predisposition
- p.Ser49Cys Expert panel ATM-related cancer predisposition
- p.Ser978Pro Expert panel ATM-related cancer predisposition
- c.1066-31del Multiple submitters
- c.1802+65T>C Multiple submitters
- c.1899-55T>G Multiple submitters hereditary neoplastic syndrome
- c.2377-56A>G Multiple submitters ataxia telangiectasia
- c.2467-123T>A Multiple submitters
- c.2638+85G>T Multiple submitters
- c.2839-18dup Multiple submitters hereditary neoplastic syndrome
- c.2839-90G>T Multiple submitters
- c.2922-21T>G Multiple submitters hereditary neoplastic syndrome
- c.2922-8dup Multiple submitters hereditary neoplastic syndrome
- c.3078-77C>T Multiple submitters ataxia telangiectasia
- c.331+69dup Multiple submitters
- c.332-71A>G Multiple submitters
- c.3402+329A>T Multiple submitters
- c.3576+687C>T Multiple submitters hereditary neoplastic syndrome
- c.3993+197G>A Multiple submitters
- c.3993+48A>G Multiple submitters
- c.3994-193T>C Multiple submitters ataxia telangiectasia
- c.3994-97G>A Multiple submitters
- c.4110-17dup Multiple submitters hereditary breast carcinoma
- c.4776+41C>T Multiple submitters hereditary breast ovarian cancer syndrome
- c.4777-20A>G Multiple submitters hereditary neoplastic syndrome
- c.4910-156T>A Multiple submitters
- c.496+221C>T Multiple submitters
- c.497-48T>G Multiple submitters hereditary breast ovarian cancer syndrome
- c.5006-170G>A Multiple submitters
- c.5006-68T>G Multiple submitters hereditary breast ovarian cancer syndrome
- c.6095+15T>C Multiple submitters hereditary neoplastic syndrome
- c.6198+116T>C Multiple submitters
- c.6199-20dup Multiple submitters hereditary breast carcinoma
- c.6347+125T>C Multiple submitters
- c.6347+127T>C Multiple submitters
- c.6347+129T>C Multiple submitters
- c.6347+133C>T Multiple submitters
- c.6572+12G>T Multiple submitters Breast and/or ovarian cancer
- c.6573-36C>T Multiple submitters ataxia telangiectasia
- c.6573-42del Multiple submitters
- c.662+38T>C Multiple submitters hereditary breast ovarian cancer syndrome
- c.663-144del Multiple submitters
- c.6807+238G>C Multiple submitters
- c.6808-72ATT[4] Multiple submitters hereditary breast ovarian cancer syndrome
- c.72+37_72+38del Multiple submitters hereditary breast ovarian cancer syndrome
- c.7927+142G>A Multiple submitters
- c.7928-73G>A Multiple submitters hereditary breast ovarian cancer syndrome
- c.7928-95C>A Multiple submitters
- c.8010+186C>T Multiple submitters hereditary neoplastic syndrome
- c.8010+30dup Multiple submitters hereditary breast ovarian cancer syndrome
- c.8671+104T>C Multiple submitters ataxia telangiectasia
- c.8786+90G>A Multiple submitters ataxia telangiectasia
- c.8787-55C>T Multiple submitters hereditary breast ovarian cancer syndrome
- c.8850+60A>G Multiple submitters hereditary breast ovarian cancer syndrome
- c.8851-973A>C Multiple submitters hereditary neoplastic syndrome
- c.901+25T>G Multiple submitters hereditary neoplastic syndrome
- c.-111G>A Multiple submitters hereditary neoplastic syndrome
- c.-30-79A>G Multiple submitters
- c.*1604C>T Multiple submitters ataxia telangiectasia
- c.*3393G>T Multiple submitters ataxia telangiectasia
- c.*548G>T Multiple submitters ataxia telangiectasia
- c.*551T>C Multiple submitters ataxia telangiectasia
- p.Asp814Glu Multiple submitters hereditary neoplastic syndrome
- p.Cys219= Multiple submitters Breast and/or ovarian cancer
- p.His1380Tyr Multiple submitters Breast and/or ovarian cancer
- p.Leu895= Multiple submitters Breast and/or ovarian cancer
- p.Ser1983Asn Multiple submitters hereditary neoplastic syndrome
- p.Ile2233= Single submitter hereditary breast carcinoma
- p.Leu2270= Single submitter hereditary breast carcinoma
- p.Arg2453= Single submitter hereditary breast carcinoma
- p.Val2681= Single submitter hereditary breast carcinoma
- p.Arg2691= Single submitter hereditary breast carcinoma
- p.Pro2842= Single submitter hereditary breast carcinoma
- p.Thr2961= Single submitter hereditary breast carcinoma
- p.Val3009= Single submitter hereditary breast carcinoma
- p.Val3025= Single submitter hereditary breast carcinoma
- c.1065+278C>T Single submitter
- c.1066-22T>G Single submitter
- c.1066-294A>G Single submitter
- c.1066-32_1066-31del Single submitter
- c.1236-10_1236-3dup Single submitter ataxia telangiectasia
- c.1802+13del Single submitter breast-ovarian cancer, familial, susceptibility to, 2
- c.1803-9dup Single submitter ataxia telangiectasia
- c.185+273_185+276del Single submitter
- c.1899-242G>A Single submitter
- c.2125-20dup Single submitter hereditary breast carcinoma
- c.2250+221T>C Single submitter
- c.2467-27_2467-19del Single submitter hereditary breast carcinoma
- c.2838+28_2838+29insA Single submitter
- c.2839-657G>A Single submitter
- c.2839-882C>T Single submitter
- c.331+68_331+69dup Single submitter
- c.332-158del Single submitter
- c.3403-13A>T Single submitter ataxia telangiectasia
- c.3403-14_3403-13del Single submitter ataxia telangiectasia
- c.3403-14A>T Single submitter ataxia telangiectasia
- c.3403-9C>T Single submitter ataxia telangiectasia
- c.3577-30C>T Single submitter ataxia telangiectasia
- c.3747-11del Single submitter ataxia telangiectasia
- c.3747-304G>A Single submitter
- c.3993+17dup Single submitter ataxia telangiectasia
- c.4237-54T>C Single submitter
- c.4437-279T>C Single submitter
- c.4611+213A>G Single submitter
- c.4611+8del Single submitter ataxia telangiectasia
- c.4612-11A>T Single submitter ataxia telangiectasia
- c.4612-122G>T Single submitter
- c.4612-13A>T Single submitter ataxia telangiectasia
- c.4777-247C>G Single submitter
- c.4777-248G>A Single submitter
- c.4910-11dup Single submitter ataxia telangiectasia
- c.497-174A>G Single submitter
- c.5674+18del Single submitter ataxia telangiectasia
- c.5675-10del Single submitter ataxia telangiectasia
- c.5675-20dup Single submitter hereditary breast carcinoma
- c.5918+21del Single submitter ataxia telangiectasia
- c.6006+191_6006+192del Single submitter
- c.6007-20del Single submitter hereditary breast carcinoma
- c.6007-27C>T Single submitter ataxia telangiectasia
- c.6007-292G>A Single submitter
- c.6007-30C>T Single submitter ataxia telangiectasia
- c.6007-33C>T Single submitter ataxia telangiectasia
- c.6007-34C>T Single submitter ataxia telangiectasia
- c.6198+11del Single submitter ataxia telangiectasia
- c.6198+11dup Single submitter ataxia telangiectasia
- c.6198+310G>A Single submitter
- c.6198+32_6198+53del Single submitter
- c.6199-255dup Single submitter
- c.6199-270T>A Single submitter
- c.6199-271_6199-270insA Single submitter
- c.6347+214T>A Single submitter
- c.6347+95TA[15] Single submitter
- c.6347+95TA[16] Single submitter
- c.6347+95TA[17] Single submitter
- c.6347+95TA[18] Single submitter
- c.6347+95TA[22] Single submitter
- c.6348-19dup Single submitter hereditary breast carcinoma
- c.6453-9dup Single submitter ataxia telangiectasia
- c.6572+324C>T Single submitter
- c.6573-23G>T Single submitter ataxia telangiectasia
- c.6573-258A>C Single submitter
- c.6573-26C>A Single submitter ataxia telangiectasia
- c.6573-30C>T Single submitter ataxia telangiectasia
- c.6573-31_6573-30del Single submitter ataxia telangiectasia
- c.6573-31G>T Single submitter ataxia telangiectasia
- c.6573-34C>T Single submitter ataxia telangiectasia
- c.6573-37_6573-36insTTTTTT Single submitter ataxia telangiectasia
- c.6573-41_6573-40del Single submitter ataxia telangiectasia
- c.6573-42_6573-41del Single submitter ataxia telangiectasia
- c.6573-42dup Single submitter
- c.662+42T>A Single submitter breast-ovarian cancer, familial, susceptibility to, 2
- c.6976-16dup Single submitter ataxia telangiectasia
- c.7090-8del Single submitter ataxia telangiectasia
- c.73-25ATT[2] Single submitter hereditary breast carcinoma
- c.7307+177T>G Single submitter
- c.7307+217G>A Single submitter
- c.7630-29G>T Single submitter ataxia telangiectasia
- c.7630-37G>T Single submitter ataxia telangiectasia
- c.7789-15G>T Single submitter ataxia telangiectasia
- c.8010+252del Single submitter
- c.8011-21T>G Single submitter breast-ovarian cancer, familial, susceptibility to, 2
- c.8011-313G>A Single submitter
- c.8151+90G>A Single submitter breast-ovarian cancer, familial, susceptibility to, 2
- c.8585-229A>T Single submitter
- c.8786+189_8786+190insC Single submitter
- c.8786+190_8786+191del Single submitter
- c.8786+190_8786+191insC Single submitter
- c.8786+190_8786+193del Single submitter
- c.8786+190_8786+197del Single submitter
- c.8786+270G>A Single submitter
- c.-30-53A>C Single submitter
- c.-31+4G>C Single submitter
- c.-31+61A>G Single submitter
- c.-31+8C>T Single submitter
- c.*10T>G Single submitter hereditary breast carcinoma
- c.*1427T>C Single submitter ataxia telangiectasia
- c.*1799C>T Single submitter ataxia telangiectasia
- c.*2080C>T Single submitter ataxia telangiectasia
- c.*2199C>G Single submitter ataxia telangiectasia
- c.*2220A>G Single submitter ataxia telangiectasia
- c.*2C>A Single submitter hereditary breast carcinoma
- c.*3072C>T Single submitter ataxia telangiectasia
- c.*3093C>T Single submitter ataxia telangiectasia
- c.*3413T>C Single submitter ataxia telangiectasia
- c.*371A>G Single submitter ataxia telangiectasia
- c.*5C>T Single submitter hereditary breast carcinoma
- c.*684T>G Single submitter ataxia telangiectasia
- c.*6A>G Single submitter hereditary breast carcinoma
- c.*7del Single submitter hereditary breast carcinoma
- c.*7G>T Single submitter hereditary breast carcinoma
- c.*9A>G Single submitter hereditary breast carcinoma
- p.Ala1090= Single submitter hereditary breast carcinoma
- p.Ala1512= Single submitter hereditary breast carcinoma
- p.Ala193Ser Single submitter hereditary neoplastic syndrome
- p.Ala1958= Single submitter hereditary breast carcinoma
- p.Ala2420= Single submitter hereditary breast carcinoma
- p.Ala2451= Single submitter hereditary breast carcinoma
- p.Ala2602= Single submitter hereditary breast carcinoma
- p.Ala2635= Single submitter hereditary breast carcinoma
- p.Ala2693= Single submitter hereditary breast carcinoma
- p.Ala3006= Single submitter hereditary breast carcinoma
- p.Ala3054= Single submitter hereditary breast carcinoma
- p.Ala911= Single submitter hereditary breast carcinoma
- p.Ala920= Single submitter hereditary breast carcinoma
- p.Arg1917= Single submitter hereditary breast carcinoma
- p.Arg2263= Single submitter hereditary breast carcinoma
- p.Arg2526= Single submitter hereditary breast carcinoma
- p.Arg2741= Single submitter hereditary breast carcinoma
- p.Arg2792= Single submitter hereditary breast carcinoma
- p.Arg451= Single submitter hereditary breast carcinoma
- p.Asn1339= Single submitter hereditary breast carcinoma
- p.Asn2327= Single submitter hereditary breast carcinoma
- p.Asn338Ser Single submitter ovarian cancer
- p.Asn856= Single submitter hereditary breast carcinoma
- p.Asp1371= Single submitter hereditary breast carcinoma
- p.Asp1511= Single submitter hereditary breast carcinoma
- p.Asp2137= Single submitter hereditary breast carcinoma
- p.Asp3041= Single submitter hereditary breast carcinoma
- p.Cys1164= Single submitter hereditary breast carcinoma
- p.Cys384= Single submitter hereditary breast carcinoma
- p.Cys541= Single submitter hereditary breast carcinoma
- p.Cys669= Single submitter hereditary breast carcinoma
- p.Gln1116= Single submitter hereditary breast carcinoma
- p.Gln1425= Single submitter hereditary breast carcinoma
- p.Gln2220= Single submitter hereditary breast carcinoma
- p.Gln2762= Single submitter hereditary breast carcinoma
- p.Gln3038= Single submitter hereditary breast carcinoma
- p.Glu1553Lys Single submitter hereditary neoplastic syndrome
- p.Glu1751= Single submitter hereditary breast carcinoma
- p.Glu1787= Single submitter hereditary breast carcinoma
- p.Glu2181= Single submitter hereditary breast carcinoma
- p.Glu2183= Single submitter hereditary breast carcinoma
- p.Glu2232= Single submitter hereditary breast carcinoma
- p.Glu2238= Single submitter hereditary breast carcinoma
- p.Glu2539= Single submitter hereditary breast carcinoma
- p.Glu739= Single submitter hereditary breast carcinoma
- p.Glu834Asp Single submitter hereditary neoplastic syndrome
- p.Glu968= Single submitter hereditary breast carcinoma
- p.Gly1065= Single submitter hereditary breast carcinoma
- p.Gly1307= Single submitter hereditary breast carcinoma
- p.Gly1458= Single submitter hereditary breast carcinoma
- p.Gly2024= Single submitter hereditary breast carcinoma
- p.Gly2063= Single submitter hereditary breast carcinoma
- p.Gly2678= Single submitter hereditary breast carcinoma
- p.Gly2777= Single submitter hereditary breast carcinoma
- p.Gly2867= Single submitter hereditary breast carcinoma
- p.Gly2897= Single submitter hereditary breast carcinoma
- p.Gly294= Single submitter hereditary breast carcinoma
- p.Gly3023= Single submitter hereditary breast carcinoma
- p.Gly833= Single submitter hereditary breast carcinoma
- p.His1083= Single submitter hereditary breast carcinoma
- p.His1188= Single submitter hereditary breast carcinoma
- p.His192= Single submitter hereditary breast carcinoma
- p.His605= Single submitter hereditary breast carcinoma
- p.Ile1256Val Single submitter hereditary neoplastic syndrome
- p.Ile1275= Single submitter hereditary breast carcinoma
- p.Ile1337= Single submitter hereditary breast carcinoma
- p.Ile1525_Pro1526= Single submitter hereditary breast carcinoma
- p.Ile1849= Single submitter hereditary breast carcinoma
- p.Ile190Lys Single submitter hereditary neoplastic syndrome
- p.Ile2260= Single submitter hereditary breast carcinoma
- p.Ile2311= Single submitter hereditary breast carcinoma
- p.Ile232= Single submitter hereditary breast carcinoma
- p.Ile2471= Single submitter hereditary breast carcinoma
- p.Ile2628= Single submitter hereditary breast carcinoma
- p.Ile2702= Single submitter hereditary breast carcinoma
- p.Ile2776= Single submitter hereditary breast carcinoma
- p.Ile280= Single submitter hereditary breast carcinoma
- p.Ile2888= Single submitter hereditary breast carcinoma
- p.Ile2899= Single submitter hereditary breast carcinoma
- p.Ile487= Single submitter hereditary breast carcinoma
- p.Ile68= Single submitter hereditary breast carcinoma
- p.Ile735= Single submitter hereditary breast carcinoma
- p.Ile818= Single submitter hereditary breast carcinoma
- p.Leu1189= Single submitter hereditary breast carcinoma
- p.Leu1401= Single submitter hereditary breast carcinoma
- p.Leu2081= Single submitter hereditary breast carcinoma
- p.Leu2163= Single submitter hereditary breast carcinoma
- p.Leu2188= Single submitter hereditary breast carcinoma
- p.Leu2211= Single submitter hereditary breast carcinoma
- p.Leu2293= Single submitter hereditary breast carcinoma
- p.Leu262= Single submitter hereditary breast carcinoma
- p.Leu2760= Single submitter hereditary breast carcinoma
- p.Leu544= Single submitter hereditary breast carcinoma
- p.Leu615= Single submitter hereditary breast carcinoma
- p.Leu857= Single submitter hereditary breast carcinoma
- p.Leu885= Single submitter hereditary breast carcinoma
- p.Leu951= Single submitter hereditary breast carcinoma
- p.Lys1109= Single submitter hereditary breast carcinoma
- p.Lys1191= Single submitter hereditary breast carcinoma
- p.Lys1440= Single submitter hereditary breast carcinoma
- p.Lys1550= Single submitter hereditary breast carcinoma
Benign/Likely benign 1189
Showing the top 300 by review status; the full set is in the sitemap.
- p.Ser1987= Multiple submitters hereditary neoplastic syndrome
- p.Arg2060= Multiple submitters hereditary breast carcinoma
- p.Arg2227= Multiple submitters hereditary breast carcinoma
- p.Ser2283= Multiple submitters hereditary breast carcinoma
- p.Val2288= Multiple submitters hereditary breast carcinoma
- p.Leu2309= Multiple submitters hereditary neoplastic syndrome
- p.Leu2338= Multiple submitters ataxia telangiectasia
- p.Thr2348= Multiple submitters hereditary neoplastic syndrome
- p.Leu2474= Multiple submitters hereditary breast carcinoma
- p.Leu2572= Multiple submitters hereditary neoplastic syndrome
- p.Arg2612= Multiple submitters hereditary neoplastic syndrome
- p.Thr2737= Multiple submitters hereditary neoplastic syndrome
- p.Leu2739= Multiple submitters hereditary neoplastic syndrome
- c.1066-31dup Multiple submitters
- c.1235+11dup Multiple submitters hereditary neoplastic syndrome
- c.1236-3del Multiple submitters Breast and/or ovarian cancer
- c.1236-3dup Multiple submitters Breast and/or ovarian cancer
- c.1236-4_1236-3del Multiple submitters ATM-related cancer predisposition
- c.1236-4_1236-3dup Multiple submitters ATM-related cancer predisposition
- c.1608-19G>T Multiple submitters hereditary neoplastic syndrome
- c.1803-15del Multiple submitters hereditary neoplastic syndrome
- c.186-17A>G Multiple submitters hereditary breast carcinoma
- c.186-7C>T Multiple submitters Breast and/or ovarian cancer
- c.2124+12del Multiple submitters ataxia telangiectasia
- c.2124+12dup Multiple submitters hereditary neoplastic syndrome
- c.2124+14A>G Multiple submitters hereditary neoplastic syndrome
- c.2124+19del Multiple submitters hereditary neoplastic syndrome
- c.2124+19dup Multiple submitters ataxia telangiectasia
- c.2250+18A>G Multiple submitters hereditary neoplastic syndrome
- c.2250+20T>C Multiple submitters hereditary neoplastic syndrome
- c.2250+22A>C Multiple submitters ataxia telangiectasia
- c.2250+34A>C Multiple submitters hereditary breast ovarian cancer syndrome
- c.2250+75T>C Multiple submitters hereditary breast ovarian cancer syndrome
- c.2251-115dup Multiple submitters hereditary breast ovarian cancer syndrome
- c.2251-18del Multiple submitters hereditary breast carcinoma
- c.2251-18dup Multiple submitters Breast and/or ovarian cancer
- c.2251-19T>C Multiple submitters hereditary neoplastic syndrome
- c.2376+20G>C Multiple submitters Breast and/or ovarian cancer
- c.2466+7A>G Multiple submitters hereditary neoplastic syndrome
- c.2466+87T>G Multiple submitters hereditary breast ovarian cancer syndrome
- c.2467-31T>C Multiple submitters
- c.2638+7A>G Multiple submitters hereditary neoplastic syndrome
- c.2638+9A>G Multiple submitters hereditary neoplastic syndrome
- c.2639-27_2639-22del Multiple submitters hereditary breast ovarian cancer syndrome
- c.2639-384A>T Multiple submitters hereditary neoplastic syndrome
- c.2839-18del Multiple submitters hereditary breast carcinoma
- c.2839-18T>C Multiple submitters hereditary neoplastic syndrome
- c.2921+19dup Multiple submitters Breast and/or ovarian cancer
- c.2922-10_2922-8del Multiple submitters hereditary neoplastic syndrome
- c.2922-8del Multiple submitters hereditary neoplastic syndrome
- c.2922-9_2922-8del Multiple submitters Breast and/or ovarian cancer
- c.3077+61G>A Multiple submitters hereditary breast ovarian cancer syndrome
- c.3077+8C>G Multiple submitters hereditary neoplastic syndrome
- c.3153+10dup Multiple submitters ataxia telangiectasia
- c.3153+20del Multiple submitters hereditary neoplastic syndrome
- c.3153+20dup Multiple submitters ataxia telangiectasia
- c.3153+20T>C Multiple submitters hereditary neoplastic syndrome
- c.3284+16T>G Multiple submitters ataxia telangiectasia
- c.3285-15C>T Multiple submitters hereditary neoplastic syndrome
- c.3285-31TTTG[3] Multiple submitters hereditary breast carcinoma
- c.3285-31TTTG[5] Multiple submitters hereditary breast carcinoma
- c.3285-9del Multiple submitters hereditary neoplastic syndrome
- c.3402+14A>C Multiple submitters hereditary neoplastic syndrome
- c.3402+16A>G Multiple submitters hereditary neoplastic syndrome
- c.3402+17T>C Multiple submitters hereditary neoplastic syndrome
- c.3402+32_3402+34del Multiple submitters hereditary neoplastic syndrome
- c.3403-13dup Multiple submitters Breast and/or ovarian cancer
- c.3403-15_3403-14insTA Multiple submitters Breast and/or ovarian cancer
- c.3403-15del Multiple submitters hereditary breast carcinoma
- c.3403-15dup Multiple submitters hereditary neoplastic syndrome
- c.3403-15T>A Multiple submitters Breast and/or ovarian cancer
- c.3403-16_3403-15insA Multiple submitters ATM-related cancer predisposition
- c.3403-34T>A Multiple submitters hereditary breast ovarian cancer syndrome
- c.3403-4T>C Multiple submitters hereditary neoplastic syndrome
- c.3577-12del Multiple submitters hereditary neoplastic syndrome
- c.3577-13T>C Multiple submitters hereditary neoplastic syndrome
- c.3747-34A>G Multiple submitters hereditary breast ovarian cancer syndrome
- c.3747-3dup Multiple submitters hereditary breast carcinoma
- c.3993+18A>G Multiple submitters ataxia telangiectasia
- c.3993+5G>T Multiple submitters Breast and/or ovarian cancer
- c.3994-7C>T Multiple submitters hereditary breast carcinoma
- c.4109+9A>C Multiple submitters hereditary breast carcinoma
- c.4236+11A>G Multiple submitters hereditary neoplastic syndrome
- c.4436+19C>T Multiple submitters ataxia telangiectasia
- c.4437-14del Multiple submitters hereditary breast carcinoma
- c.4437-14dup Multiple submitters hereditary neoplastic syndrome
- c.4612-12A>T Multiple submitters ataxia telangiectasia
- c.4612-19C>T Multiple submitters ataxia telangiectasia
- c.4777-10del Multiple submitters hereditary neoplastic syndrome
- c.4777-3dup Multiple submitters hereditary breast carcinoma
- c.496+18T>A Multiple submitters ataxia telangiectasia
- c.496+20G>C Multiple submitters hereditary neoplastic syndrome
- c.497-14T>A Multiple submitters hereditary neoplastic syndrome
- c.497-4del Multiple submitters hereditary neoplastic syndrome
- c.497-4dup Multiple submitters hereditary neoplastic syndrome
- c.5005+17C>T Multiple submitters hereditary neoplastic syndrome
- c.5005+18G>A Multiple submitters hereditary neoplastic syndrome
- c.5005+21_5005+22insGC Multiple submitters hereditary breast ovarian cancer syndrome
- c.5005+7_5005+8del Multiple submitters Breast and/or ovarian cancer
- c.5005+9C>T Multiple submitters hereditary neoplastic syndrome
- c.5006-18T>A Multiple submitters hereditary neoplastic syndrome
- c.5178-4del Multiple submitters ataxia telangiectasia
- c.5497-8T>C Multiple submitters hereditary neoplastic syndrome
- c.5762+1025T>C Multiple submitters
- c.5762+26C>T Multiple submitters hereditary breast ovarian cancer syndrome
- c.5918+16A>G Multiple submitters hereditary neoplastic syndrome
- c.5918+72A>G Multiple submitters hereditary neoplastic syndrome
- c.6006+8T>C Multiple submitters hereditary neoplastic syndrome
- c.6007-44G>A Multiple submitters hereditary breast ovarian cancer syndrome
- c.6199-20_6199-15del Multiple submitters hereditary neoplastic syndrome
- c.6199-61C>G Multiple submitters hereditary breast ovarian cancer syndrome
- c.6347+31del Multiple submitters ataxia telangiectasia
- c.6347+31dup Multiple submitters ataxia telangiectasia
- c.6348-19del Multiple submitters hereditary breast carcinoma
- c.6348-252T>C Multiple submitters
- c.6348-8T>C Multiple submitters hereditary neoplastic syndrome
- c.6453-9del Multiple submitters ataxia telangiectasia
- c.6572+12G>A Multiple submitters hereditary neoplastic syndrome
- c.6573-16A>G Multiple submitters hereditary breast carcinoma
- c.6573-17dup Multiple submitters hereditary neoplastic syndrome
- c.6573-41del Multiple submitters ataxia telangiectasia
- c.6573-43_6573-42del Multiple submitters
- c.662+14T>A Multiple submitters hereditary neoplastic syndrome
- c.6808-22C>A Multiple submitters hereditary breast carcinoma
- c.6975+13dup Multiple submitters ataxia telangiectasia
- c.6976-19T>C Multiple submitters hereditary neoplastic syndrome
- c.7089+20C>T Multiple submitters hereditary neoplastic syndrome
- c.7515+20A>G Multiple submitters hereditary neoplastic syndrome
- c.7516-9del Multiple submitters ataxia telangiectasia
- c.7516-9dup Multiple submitters Breast and/or ovarian cancer
- c.7629+13G>A Multiple submitters hereditary neoplastic syndrome
- c.7630-17T>C Multiple submitters Breast and/or ovarian cancer
- c.7789-15G>C Multiple submitters Breast and/or ovarian cancer
- c.7789-16dup Multiple submitters hereditary breast carcinoma
- c.7789-9dup Multiple submitters hereditary breast carcinoma
- c.7927+13del Multiple submitters hereditary neoplastic syndrome
- c.7927+13dup Multiple submitters hereditary neoplastic syndrome
- c.8151+11C>T Multiple submitters ataxia telangiectasia
- c.8151+17C>G Multiple submitters hereditary neoplastic syndrome
- c.8269-14A>T Multiple submitters Breast and/or ovarian cancer
- c.8418+13C>T Multiple submitters hereditary neoplastic syndrome
- c.8418+78A>G Multiple submitters hereditary breast ovarian cancer syndrome
- c.8419-19A>G Multiple submitters Breast and/or ovarian cancer
- c.8584+10T>C Multiple submitters hereditary neoplastic syndrome
- c.8671+18T>C Multiple submitters hereditary neoplastic syndrome
- c.8786+20G>C Multiple submitters hereditary neoplastic syndrome
- c.8786+8A>C Multiple submitters hereditary neoplastic syndrome
- c.8850+10T>C Multiple submitters hereditary neoplastic syndrome
- c.-18G>A Multiple submitters hereditary neoplastic syndrome
- c.*1T>A Multiple submitters hereditary breast carcinoma
- c.*29C>G Multiple submitters hereditary breast ovarian cancer syndrome
- c.*44A>G Multiple submitters hereditary breast ovarian cancer syndrome
- c.*8T>G Multiple submitters hereditary breast carcinoma
- p.Ala1014= Multiple submitters hereditary neoplastic syndrome
- p.Ala1079= Multiple submitters hereditary breast carcinoma
- p.Ala108= Multiple submitters hereditary neoplastic syndrome
- p.Ala1089= Multiple submitters hereditary neoplastic syndrome
- p.Ala112= Multiple submitters hereditary neoplastic syndrome
- p.Ala1127= Multiple submitters hereditary neoplastic syndrome
- p.Ala1138= Multiple submitters hereditary neoplastic syndrome
- p.Ala1175= Multiple submitters hereditary breast carcinoma
- p.Ala1211= Multiple submitters hereditary breast carcinoma
- p.Ala135= Multiple submitters hereditary breast carcinoma
- p.Ala1355= Multiple submitters ataxia telangiectasia
- p.Ala1359= Multiple submitters hereditary neoplastic syndrome
- p.Ala1375= Multiple submitters hereditary neoplastic syndrome
- p.Ala1388= Multiple submitters hereditary neoplastic syndrome
- p.Ala1421= Multiple submitters hereditary neoplastic syndrome
- p.Ala1427= Multiple submitters hereditary neoplastic syndrome
- p.Ala1462= Multiple submitters hereditary neoplastic syndrome
- p.Ala1505= Multiple submitters hereditary neoplastic syndrome
- p.Ala1687= Multiple submitters hereditary neoplastic syndrome
- p.Ala1733= Multiple submitters hereditary neoplastic syndrome
- p.Ala1887= Multiple submitters hereditary neoplastic syndrome
- p.Ala1931= Multiple submitters ATM-related cancer predisposition
- p.Ala1945= Multiple submitters hereditary neoplastic syndrome
- p.Ala1950= Multiple submitters hereditary breast carcinoma
- p.Ala20= Multiple submitters hereditary breast carcinoma
- p.Ala2040= Multiple submitters ataxia telangiectasia
- p.Ala2045= Multiple submitters hereditary breast carcinoma
- p.Ala2103= Multiple submitters hereditary neoplastic syndrome
- p.Ala216= Multiple submitters hereditary breast carcinoma
- p.Ala2296= Multiple submitters Breast and/or ovarian cancer
- p.Ala2308= Multiple submitters hereditary neoplastic syndrome
- p.Ala2321= Multiple submitters hereditary neoplastic syndrome
- p.Ala234= Multiple submitters hereditary neoplastic syndrome
- p.Ala2346= Multiple submitters hereditary neoplastic syndrome
- p.Ala2354= Multiple submitters familial colorectal cancer type X
- p.Ala2386= Multiple submitters ataxia telangiectasia
- p.Ala2466= Multiple submitters hereditary breast carcinoma
- p.Ala2562= Multiple submitters hereditary breast carcinoma
- p.Ala2578= Multiple submitters hereditary breast carcinoma
- p.Ala2649= Multiple submitters hereditary neoplastic syndrome
- p.Ala2857= Multiple submitters hereditary neoplastic syndrome
- p.Ala3039= Multiple submitters hereditary breast carcinoma
- p.Ala538= Multiple submitters hereditary neoplastic syndrome
- p.Ala59= Multiple submitters hereditary breast carcinoma
- p.Ala623= Multiple submitters hereditary neoplastic syndrome
- p.Ala740= Multiple submitters hereditary breast carcinoma
- p.Ala756= Multiple submitters hereditary neoplastic syndrome
- p.Ala78= Multiple submitters hereditary neoplastic syndrome
- p.Ala799= Multiple submitters hereditary neoplastic syndrome
- p.Ala823= Multiple submitters ataxia telangiectasia
- p.Ala88= Multiple submitters hereditary neoplastic syndrome
- p.Ala881= Multiple submitters ataxia telangiectasia
- p.Ala886= Multiple submitters hereditary breast carcinoma
- p.Ala921= Multiple submitters hereditary breast carcinoma
- p.Arg1012= Multiple submitters ataxia telangiectasia
- p.Arg1039= Multiple submitters hereditary neoplastic syndrome
- p.Arg1086= Multiple submitters hereditary neoplastic syndrome
- p.Arg111= Multiple submitters ataxia telangiectasia
- p.Arg114= Multiple submitters hereditary neoplastic syndrome
- p.Arg1150= Multiple submitters ataxia telangiectasia
- p.Arg1312= Multiple submitters ataxia telangiectasia
- p.Arg1437= Multiple submitters ataxia telangiectasia
- p.Arg153= Multiple submitters ataxia telangiectasia
- p.Arg1575= Multiple submitters hereditary neoplastic syndrome
- p.Arg1768= Multiple submitters hereditary breast carcinoma
- p.Arg1771= Multiple submitters hereditary breast carcinoma
- p.Arg1859= Multiple submitters ataxia telangiectasia
- p.Arg1875= Multiple submitters hereditary breast carcinoma
- p.Arg189Lys Multiple submitters hereditary neoplastic syndrome
- p.Arg1918= Multiple submitters ataxia telangiectasia
- p.Arg2034= Multiple submitters hereditary neoplastic syndrome
- p.Arg2136= Multiple submitters hereditary breast carcinoma
- p.Arg2175= Multiple submitters hereditary breast carcinoma
- p.Arg2196= Multiple submitters hereditary breast carcinoma
- p.Arg2227= Multiple submitters hereditary neoplastic syndrome
- p.Arg2244= Multiple submitters hereditary breast carcinoma
- p.Arg23= Multiple submitters hereditary neoplastic syndrome
- p.Arg2380= Multiple submitters hereditary breast ovarian cancer syndrome
- p.Arg2400= Multiple submitters hereditary breast carcinoma
- p.Arg2419= Multiple submitters ataxia telangiectasia
- p.Arg2428= Multiple submitters hereditary neoplastic syndrome
- p.Arg2443= Multiple submitters hereditary neoplastic syndrome
- p.Arg2461= Multiple submitters hereditary neoplastic syndrome
- p.Arg248= Multiple submitters hereditary breast carcinoma
- p.Arg2506= Multiple submitters hereditary breast carcinoma
- p.Arg2582= Multiple submitters ataxia telangiectasia
- p.Arg2612= Multiple submitters hereditary neoplastic syndrome
- p.Arg2618= Multiple submitters hereditary neoplastic syndrome
- p.Arg2691= Multiple submitters hereditary breast carcinoma
- p.Arg2712= Multiple submitters hereditary breast carcinoma
- p.Arg2723= Multiple submitters ataxia telangiectasia
- p.Arg2748= Multiple submitters ataxia telangiectasia
- p.Arg2854= Multiple submitters hereditary breast carcinoma
- p.Arg2909= Multiple submitters ataxia telangiectasia
- p.Arg2928= Multiple submitters hereditary neoplastic syndrome
- p.Arg2973= Multiple submitters hereditary neoplastic syndrome
- p.Arg2993= Multiple submitters hereditary neoplastic syndrome
- p.Arg3008= Multiple submitters ataxia telangiectasia
- p.Arg309= Multiple submitters hereditary neoplastic syndrome
- p.Arg32= Multiple submitters hereditary neoplastic syndrome
- p.Arg329= Multiple submitters hereditary neoplastic syndrome
- p.Arg35= Multiple submitters Breast and/or ovarian cancer
- p.Arg375= Multiple submitters hereditary neoplastic syndrome
- p.Arg45= Multiple submitters hereditary breast carcinoma
- p.Arg521= Multiple submitters hereditary breast carcinoma
- p.Arg533= Multiple submitters hereditary neoplastic syndrome
- p.Arg717= Multiple submitters hereditary neoplastic syndrome
- p.Arg76= Multiple submitters hereditary neoplastic syndrome
- p.Arg777= Multiple submitters hereditary neoplastic syndrome
- p.Arg785= Multiple submitters hereditary neoplastic syndrome
- p.Arg90= Multiple submitters hereditary neoplastic syndrome
- p.Asn1005= Multiple submitters hereditary breast carcinoma
- p.Asn1010= Multiple submitters hereditary neoplastic syndrome
- p.Asn1044= Multiple submitters hereditary neoplastic syndrome
- p.Asn1062= Multiple submitters hereditary neoplastic syndrome
- p.Asn1071= Multiple submitters hereditary neoplastic syndrome
- p.Asn1094= Multiple submitters ataxia telangiectasia
- p.Asn1122= Multiple submitters hereditary neoplastic syndrome
- p.Asn1140= Multiple submitters hereditary neoplastic syndrome
- p.Asn1183= Multiple submitters ataxia telangiectasia
- p.Asn122= Multiple submitters hereditary neoplastic syndrome
- p.Asn1240= Multiple submitters ataxia telangiectasia
- p.Asn133= Multiple submitters ataxia telangiectasia
- p.Asn1377= Multiple submitters hereditary neoplastic syndrome
- p.Asn1395= Multiple submitters hereditary neoplastic syndrome
- p.Asn143= Multiple submitters hereditary neoplastic syndrome
- p.Asn1430= Multiple submitters ataxia telangiectasia
- p.Asn1431= Multiple submitters ataxia telangiectasia
- p.Asn1477= Multiple submitters hereditary breast carcinoma
- p.Asn1515= Multiple submitters hereditary neoplastic syndrome
- p.Asn1552= Multiple submitters hereditary neoplastic syndrome
- p.Asn1650Ser Multiple submitters Breast and/or ovarian cancer
- p.Asn1660= Multiple submitters Breast and/or ovarian cancer
- p.Asn1719= Multiple submitters hereditary breast carcinoma
- p.Asn1739= Multiple submitters hereditary neoplastic syndrome
- p.Asn1929= Multiple submitters hereditary breast carcinoma
- p.Asn2088= Multiple submitters ataxia telangiectasia
- p.Asn2130= Multiple submitters hereditary neoplastic syndrome
- p.Asn2241= Multiple submitters hereditary neoplastic syndrome
- p.Asn2267= Multiple submitters hereditary breast carcinoma
- p.Asn2282= Multiple submitters hereditary neoplastic syndrome
- p.Asn2343= Multiple submitters hereditary breast carcinoma
- p.Asn2370= Multiple submitters hereditary breast carcinoma
- p.Asn2403= Multiple submitters hereditary breast carcinoma
- p.Asn246= Multiple submitters hereditary neoplastic syndrome
- p.Asn2567= Multiple submitters hereditary neoplastic syndrome
- p.Asn2586= Multiple submitters hereditary neoplastic syndrome
Likely benign 3331
Showing the top 300 by review status; the full set is in the sitemap.
- c.496+4T>C Expert panel ATM-related cancer predisposition
- p.Arg1898Gln Expert panel ATM-related cancer predisposition
- p.Asp1848= Expert panel ATM-related cancer predisposition
- p.Glu26Gln Expert panel ATM-related cancer predisposition
- p.Lys92Thr Expert panel ATM-related cancer predisposition
- p.Val1073= Expert panel ATM-related cancer predisposition
- p.Val1941Leu Expert panel ATM-related cancer predisposition
- p.Leu1939= Multiple submitters hereditary neoplastic syndrome
- p.Leu2018= Multiple submitters hereditary neoplastic syndrome
- p.Ser2549= Multiple submitters ataxia telangiectasia
- p.Thr2771= Multiple submitters hereditary neoplastic syndrome
- p.Val2951= Multiple submitters ataxia telangiectasia
- p.Leu3026= Multiple submitters ataxia telangiectasia
- c.1065+10G>A Multiple submitters hereditary neoplastic syndrome
- c.1065+17A>G Multiple submitters ataxia telangiectasia
- c.1065+18T>A Multiple submitters ataxia telangiectasia
- c.1065+9_1065+12del Multiple submitters hereditary neoplastic syndrome
- c.1066-10T>C Multiple submitters ataxia telangiectasia
- c.1066-15A>G Multiple submitters hereditary neoplastic syndrome
- c.1066-16T>C Multiple submitters hereditary breast carcinoma
- c.1066-19A>G Multiple submitters ataxia telangiectasia
- c.1066-19A>T Multiple submitters ataxia telangiectasia
- c.1066-20G>T Multiple submitters hereditary breast carcinoma
- c.1066-57G>A Multiple submitters hereditary breast ovarian cancer syndrome
- c.1235+10_1235+28del Multiple submitters hereditary breast carcinoma
- c.1235+14A>G Multiple submitters hereditary neoplastic syndrome
- c.1235+20T>G Multiple submitters ataxia telangiectasia
- c.1235+8G>T Multiple submitters hereditary neoplastic syndrome
- c.1236-10T>C Multiple submitters ataxia telangiectasia
- c.1236-18C>T Multiple submitters ataxia telangiectasia
- c.1236-20T>C Multiple submitters hereditary breast carcinoma
- c.1236-5_1236-3del Multiple submitters hereditary neoplastic syndrome
- c.1236-8T>C Multiple submitters hereditary breast carcinoma
- c.1236-9_1236-8insG Multiple submitters hereditary neoplastic syndrome
- c.1607+10G>A Multiple submitters ataxia telangiectasia
- c.1607+10G>C Multiple submitters hereditary neoplastic syndrome
- c.1607+10G>T Multiple submitters hereditary neoplastic syndrome
- c.1607+13T>C Multiple submitters ataxia telangiectasia
- c.1607+16A>G Multiple submitters hereditary neoplastic syndrome
- c.1607+18del Multiple submitters ataxia telangiectasia
- c.1608-11T>G Multiple submitters ataxia telangiectasia
- c.1608-13T>C Multiple submitters ataxia telangiectasia
- c.1608-18T>C Multiple submitters hereditary breast carcinoma
- c.1608-20T>C Multiple submitters ataxia telangiectasia
- c.1608-4A>G Multiple submitters ataxia telangiectasia
- c.1608-7G>A Multiple submitters hereditary neoplastic syndrome
- c.1608-8T>C Multiple submitters ataxia telangiectasia
- c.1802+13C>T Multiple submitters hereditary neoplastic syndrome
- c.1802+16del Multiple submitters hereditary neoplastic syndrome
- c.1802+16T>C Multiple submitters hereditary neoplastic syndrome
- c.1802+18G>C Multiple submitters hereditary neoplastic syndrome
- c.1802+20A>G Multiple submitters hereditary neoplastic syndrome
- c.1802+20A>T Multiple submitters ataxia telangiectasia
- c.1802+7T>G Multiple submitters ataxia telangiectasia
- c.1802+8A>G Multiple submitters ataxia telangiectasia
- c.1803-10T>C Multiple submitters hereditary breast carcinoma
- c.1803-15T>C Multiple submitters hereditary neoplastic syndrome
- c.1803-4G>A Multiple submitters hereditary neoplastic syndrome
- c.1803-4G>T Multiple submitters hereditary breast carcinoma
- c.1803-5T>C Multiple submitters hereditary neoplastic syndrome
- c.1803-9T>C Multiple submitters ataxia telangiectasia
- c.185+10T>C Multiple submitters hereditary neoplastic syndrome
- c.185+10T>G Multiple submitters ataxia telangiectasia
- c.185+16T>C Multiple submitters ataxia telangiectasia
- c.185+7T>C Multiple submitters hereditary breast carcinoma
- c.185+8A>G Multiple submitters hereditary neoplastic syndrome
- c.185+9T>G Multiple submitters ataxia telangiectasia
- c.186-10T>C Multiple submitters ataxia telangiectasia
- c.186-11T>C Multiple submitters hereditary neoplastic syndrome
- c.186-18C>T Multiple submitters hereditary neoplastic syndrome
- c.186-19G>A Multiple submitters hereditary neoplastic syndrome
- c.186-4G>A Multiple submitters ataxia telangiectasia
- c.186-8T>C Multiple submitters ataxia telangiectasia
- c.1898+10C>G Multiple submitters hereditary breast carcinoma
- c.1898+16A>G Multiple submitters ataxia telangiectasia
- c.1898+9T>C Multiple submitters hereditary neoplastic syndrome
- c.1899-11C>T Multiple submitters hereditary neoplastic syndrome
- c.1899-16T>C Multiple submitters hereditary breast carcinoma
- c.1899-7C>T Multiple submitters hereditary breast carcinoma
- c.2124+13A>T Multiple submitters ataxia telangiectasia
- c.2124+16_2124+19del Multiple submitters ataxia telangiectasia
- c.2124+16A>G Multiple submitters hereditary neoplastic syndrome
- c.2125-12G>A Multiple submitters ataxia telangiectasia
- c.2125-15G>T Multiple submitters hereditary breast carcinoma
- c.2125-16T>C Multiple submitters ataxia telangiectasia
- c.2125-17T>C Multiple submitters hereditary neoplastic syndrome
- c.2125-18T>C Multiple submitters ataxia telangiectasia
- c.2125-19A>C Multiple submitters hereditary breast carcinoma
- c.2125-19A>T Multiple submitters hereditary neoplastic syndrome
- c.2125-48T>C Multiple submitters ataxia telangiectasia
- c.2125-4dup Multiple submitters ataxia telangiectasia
- c.2125-68T>C Multiple submitters hereditary breast ovarian cancer syndrome
- c.2250+15A>G Multiple submitters ataxia telangiectasia
- c.2250+16C>G Multiple submitters ataxia telangiectasia
- c.2250+78G>A Multiple submitters hereditary breast ovarian cancer syndrome
- c.2250+7G>T Multiple submitters ataxia telangiectasia
- c.2250+8A>T Multiple submitters hereditary neoplastic syndrome
- c.2250+9A>G Multiple submitters familial colorectal cancer type X
- c.2251-11A>G Multiple submitters hereditary neoplastic syndrome
- c.2251-13C>T Multiple submitters hereditary neoplastic syndrome
- c.2251-15T>C Multiple submitters ataxia telangiectasia
- c.2251-18T>C Multiple submitters hereditary breast carcinoma
- c.2376+16del Multiple submitters hereditary neoplastic syndrome
- c.2376+18T>C Multiple submitters hereditary neoplastic syndrome
- c.2376+20_2376+22del Multiple submitters hereditary neoplastic syndrome
- c.2376+9TTC[2] Multiple submitters ataxia telangiectasia
- c.2377-13G>C Multiple submitters hereditary breast carcinoma
- c.2377-14del Multiple submitters hereditary breast carcinoma
- c.2377-15_2377-12del Multiple submitters hereditary neoplastic syndrome
- c.2377-15T>C Multiple submitters hereditary neoplastic syndrome
- c.2377-17G>C Multiple submitters hereditary neoplastic syndrome
- c.2377-18T>C Multiple submitters hereditary neoplastic syndrome
- c.2377-20_2377-18del Multiple submitters hereditary breast carcinoma
- c.2466+10_2466+16del Multiple submitters ataxia telangiectasia
- c.2466+10C>A Multiple submitters ataxia telangiectasia
- c.2466+10C>T Multiple submitters ataxia telangiectasia
- c.2466+19T>G Multiple submitters Breast and/or ovarian cancer
- c.2466+8T>C Multiple submitters hereditary breast carcinoma
- c.2467-11C>T Multiple submitters ataxia telangiectasia
- c.2467-4G>T Multiple submitters hereditary neoplastic syndrome
- c.2467-5T>C Multiple submitters hereditary breast carcinoma
- c.2467-8C>T Multiple submitters ataxia telangiectasia
- c.2638+11A>G Multiple submitters hereditary neoplastic syndrome
- c.2638+16C>A Multiple submitters ataxia telangiectasia
- c.2638+18A>G Multiple submitters ataxia telangiectasia
- c.2638+19C>A Multiple submitters hereditary neoplastic syndrome
- c.2638+8C>T Multiple submitters hereditary neoplastic syndrome
- c.2638+9A>C Multiple submitters hereditary neoplastic syndrome
- c.2638+9A>T Multiple submitters hereditary breast carcinoma
- c.2639-15G>T Multiple submitters hereditary breast carcinoma
- c.2639-17G>A Multiple submitters hereditary breast carcinoma
- c.2639-18A>G Multiple submitters hereditary neoplastic syndrome
- c.2639-382_2639-377del Multiple submitters hereditary neoplastic syndrome
- c.2639-7T>C Multiple submitters hereditary breast carcinoma
- c.2639-8A>G Multiple submitters ataxia telangiectasia
- c.2639-8del Multiple submitters hereditary breast carcinoma
- c.2639-9T>G Multiple submitters hereditary neoplastic syndrome
- c.2838+13A>G Multiple submitters ataxia telangiectasia
- c.2838+20G>A Multiple submitters hereditary neoplastic syndrome
- c.2838+8dup Multiple submitters hereditary breast carcinoma
- c.2838+9C>A Multiple submitters hereditary breast carcinoma
- c.2838+9C>T Multiple submitters hereditary neoplastic syndrome
- c.2839-10A>G Multiple submitters ataxia telangiectasia
- c.2839-13C>T Multiple submitters ataxia telangiectasia
- c.2839-15C>T Multiple submitters hereditary neoplastic syndrome
- c.2839-16C>T Multiple submitters hereditary neoplastic syndrome
- c.2839-4T>C Multiple submitters hereditary neoplastic syndrome
- c.2839-5C>A Multiple submitters hereditary neoplastic syndrome
- c.2921+10T>G Multiple submitters hereditary breast carcinoma
- c.2921+11A>G Multiple submitters hereditary neoplastic syndrome
- c.2921+15C>A Multiple submitters hereditary neoplastic syndrome
- c.2921+16C>A Multiple submitters hereditary neoplastic syndrome
- c.2921+18T>C Multiple submitters ataxia telangiectasia
- c.2921+24_2921+28del Multiple submitters hereditary neoplastic syndrome
- c.2922-14T>C Multiple submitters hereditary neoplastic syndrome
- c.2922-23C>A Multiple submitters
- c.2922-37C>A Multiple submitters
- c.2922-41T>A Multiple submitters
- c.2922-7A>G Multiple submitters hereditary breast carcinoma
- c.2922-7dup Multiple submitters ataxia telangiectasia
- c.2922-8T>C Multiple submitters hereditary neoplastic syndrome
- c.2922-9_2922-8dup Multiple submitters
- c.3077+13dup Multiple submitters hereditary neoplastic syndrome
- c.3077+14A>G Multiple submitters hereditary neoplastic syndrome
- c.3077+15T>C Multiple submitters hereditary neoplastic syndrome
- c.3077+21_3077+23del Multiple submitters hereditary neoplastic syndrome
- c.3077+8C>A Multiple submitters hereditary breast carcinoma
- c.3077+8C>T Multiple submitters hereditary neoplastic syndrome
- c.3077+9A>T Multiple submitters ataxia telangiectasia
- c.3078-11C>T Multiple submitters hereditary neoplastic syndrome
- c.3078-12A>T Multiple submitters hereditary neoplastic syndrome
- c.3078-16A>C Multiple submitters ataxia telangiectasia
- c.3153+11G>A Multiple submitters ataxia telangiectasia
- c.3153+18T>G Multiple submitters hereditary neoplastic syndrome
- c.3153+19T>G Multiple submitters hereditary neoplastic syndrome
- c.3153+20T>A Multiple submitters hereditary neoplastic syndrome
- c.3153+7_3153+8insA Multiple submitters ataxia telangiectasia
- c.3153+7T>C Multiple submitters hereditary breast carcinoma
- c.3154-11T>C Multiple submitters hereditary neoplastic syndrome
- c.3154-12C>T Multiple submitters ataxia telangiectasia
- c.3154-16A>C Multiple submitters ataxia telangiectasia
- c.3154-16A>G Multiple submitters hereditary breast carcinoma
- c.3154-18del Multiple submitters hereditary breast carcinoma
- c.3154-19C>T Multiple submitters hereditary breast carcinoma
- c.3154-20C>T Multiple submitters hereditary breast carcinoma
- c.3154-4G>T Multiple submitters hereditary neoplastic syndrome
- c.3154-7C>T Multiple submitters hereditary breast carcinoma
- c.3154-9T>C Multiple submitters hereditary breast carcinoma
- c.3284+10C>G Multiple submitters hereditary neoplastic syndrome
- c.3284+11A>C Multiple submitters ataxia telangiectasia
- c.3284+20T>C Multiple submitters hereditary neoplastic syndrome
- c.3284+7G>C Multiple submitters hereditary breast carcinoma
- c.3284+9T>C Multiple submitters ataxia telangiectasia
- c.3285-13_3285-9del Multiple submitters hereditary breast carcinoma
- c.3285-13del Multiple submitters hereditary neoplastic syndrome
- c.3285-16G>A Multiple submitters hereditary breast carcinoma
- c.3285-16G>C Multiple submitters ataxia telangiectasia
- c.3285-16G>T Multiple submitters hereditary breast carcinoma
- c.3285-19T>C Multiple submitters hereditary neoplastic syndrome
- c.3285-8G>C Multiple submitters hereditary breast carcinoma
- c.331+10G>A Multiple submitters hereditary breast carcinoma
- c.331+17A>C Multiple submitters ataxia telangiectasia
- c.331+8A>G Multiple submitters hereditary breast carcinoma
- c.332-11T>C Multiple submitters hereditary neoplastic syndrome
- c.332-16_332-13del Multiple submitters ataxia telangiectasia
- c.332-20_332-17del Multiple submitters hereditary neoplastic syndrome
- c.332-20A>G Multiple submitters hereditary breast carcinoma
- c.3402+10A>C Multiple submitters hereditary neoplastic syndrome
- c.3402+18G>A Multiple submitters ataxia telangiectasia
- c.3402+18G>C Multiple submitters hereditary neoplastic syndrome
- c.3402+5T>C Multiple submitters hereditary neoplastic syndrome
- c.3402+70A>G Multiple submitters hereditary breast ovarian cancer syndrome
- c.3402+9A>G Multiple submitters hereditary neoplastic syndrome
- c.3403-14A>G Multiple submitters hereditary neoplastic syndrome
- c.3403-7T>C Multiple submitters hereditary breast carcinoma
- c.3576+8T>C Multiple submitters hereditary neoplastic syndrome
- c.3577-10G>A Multiple submitters hereditary breast carcinoma
- c.3577-10G>C Multiple submitters hereditary breast carcinoma
- c.3577-11G>C Multiple submitters hereditary neoplastic syndrome
- c.3577-12T>C Multiple submitters hereditary breast carcinoma
- c.3577-13_3577-12del Multiple submitters hereditary neoplastic syndrome
- c.3577-14T>C Multiple submitters hereditary neoplastic syndrome
- c.3577-15T>C Multiple submitters hereditary neoplastic syndrome
- c.3577-17C>T Multiple submitters hereditary breast carcinoma
- c.3577-19G>A Multiple submitters hereditary breast carcinoma
- c.3577-20T>G Multiple submitters ataxia telangiectasia
- c.3577-4G>T Multiple submitters hereditary neoplastic syndrome
- c.3577-6G>A Multiple submitters hereditary neoplastic syndrome
- c.3577-6G>C Multiple submitters hereditary breast carcinoma
- c.3577-7C>T Multiple submitters hereditary neoplastic syndrome
- c.3577-8T>C Multiple submitters hereditary breast carcinoma
- c.3746+12C>A Multiple submitters ataxia telangiectasia
- c.3746+17C>T Multiple submitters hereditary neoplastic syndrome
- c.3746+20A>G Multiple submitters hereditary neoplastic syndrome
- c.3746+7T>G Multiple submitters ataxia telangiectasia
- c.3747-10C>G Multiple submitters hereditary neoplastic syndrome
- c.3747-11T>C Multiple submitters hereditary neoplastic syndrome
- c.3747-14T>G Multiple submitters ataxia telangiectasia
- c.3747-15T>C Multiple submitters ataxia telangiectasia
- c.3747-16A>T Multiple submitters ataxia telangiectasia
- c.3747-19T>C Multiple submitters hereditary breast carcinoma
- c.3747-7T>C Multiple submitters ataxia telangiectasia
- c.3747-8A>G Multiple submitters ataxia telangiectasia
- c.3747-9T>C Multiple submitters hereditary neoplastic syndrome
- c.3993+12A>G Multiple submitters ataxia telangiectasia
- c.3993+40G>A Multiple submitters
- c.3993+6G>T Multiple submitters hereditary breast carcinoma
- c.3993+8T>G Multiple submitters ataxia telangiectasia
- c.3994-11_3994-4del Multiple submitters ataxia telangiectasia
- c.3994-121del Multiple submitters ataxia telangiectasia
- c.3994-12G>A Multiple submitters familial colorectal cancer type X
- c.3994-14T>A Multiple submitters hereditary neoplastic syndrome
- c.3994-4G>C Multiple submitters hereditary neoplastic syndrome
- c.3994-50C>T Multiple submitters
- c.3994-8C>T Multiple submitters ataxia telangiectasia
- c.3994-9C>T Multiple submitters hereditary breast carcinoma
- c.4109+10T>A Multiple submitters hereditary neoplastic syndrome
- c.4109+10T>C Multiple submitters hereditary breast carcinoma
- c.4109+11T>C Multiple submitters hereditary neoplastic syndrome
- c.4109+13T>C Multiple submitters hereditary neoplastic syndrome
- c.4109+54A>T Multiple submitters ataxia telangiectasia
- c.4109+7A>G Multiple submitters hereditary breast carcinoma
- c.4109+8C>A Multiple submitters hereditary breast carcinoma
- c.4109+8C>T Multiple submitters hereditary breast carcinoma
- c.4110-11A>G Multiple submitters ataxia telangiectasia
- c.4110-11A>T Multiple submitters hereditary breast carcinoma
- c.4110-14C>T Multiple submitters hereditary breast carcinoma
- c.4110-18T>C Multiple submitters hereditary breast carcinoma
- c.4110-25G>A Multiple submitters hereditary breast ovarian cancer syndrome
- c.4110-4T>G Multiple submitters hereditary neoplastic syndrome
- c.4110-9C>T Multiple submitters hereditary breast carcinoma
- c.4236+11A>C Multiple submitters hereditary neoplastic syndrome
- c.4236+12T>C Multiple submitters hereditary neoplastic syndrome
- c.4236+15_4236+17del Multiple submitters ataxia telangiectasia
- c.4236+19T>G Multiple submitters hereditary neoplastic syndrome
- c.4236+7A>G Multiple submitters hereditary neoplastic syndrome
- c.4236+8T>C Multiple submitters ataxia telangiectasia
- c.4236+9A>G Multiple submitters ataxia telangiectasia
- c.4237-10T>C Multiple submitters hereditary breast carcinoma
- c.4237-13_4237-10del Multiple submitters ataxia telangiectasia
- c.4237-13_4237-12del Multiple submitters hereditary neoplastic syndrome
- c.4237-13G>A Multiple submitters hereditary neoplastic syndrome
- c.4237-18A>C Multiple submitters hereditary breast carcinoma
- c.4237-19A>C Multiple submitters ataxia telangiectasia
- c.4237-19A>G Multiple submitters hereditary neoplastic syndrome
- c.4237-20T>C Multiple submitters hereditary breast carcinoma
- c.4237-3T>C Multiple submitters hereditary neoplastic syndrome
- c.4237-7T>C Multiple submitters hereditary neoplastic syndrome
- c.4237-9_4237-7del Multiple submitters ataxia telangiectasia
- c.4436+12A>G Multiple submitters ataxia telangiectasia
- c.4436+13T>C Multiple submitters hereditary neoplastic syndrome
- c.4436+19C>G Multiple submitters hereditary neoplastic syndrome
- c.4436+7A>G Multiple submitters hereditary breast carcinoma
- c.4436+9C>T Multiple submitters hereditary neoplastic syndrome
- c.4437-10C>T Multiple submitters ataxia telangiectasia
- c.4437-12T>C Multiple submitters hereditary breast carcinoma
- c.4437-13C>T Multiple submitters hereditary neoplastic syndrome
- c.4437-13dup Multiple submitters hereditary neoplastic syndrome
- c.4437-14T>C Multiple submitters hereditary neoplastic syndrome
- c.4437-15T>C Multiple submitters ataxia telangiectasia
Uncertain significance 8124
Showing the top 300 by review status; the full set is in the sitemap.
- c.2838+9C>G Expert panel ATM-related cancer predisposition
- c.331+7G>A Expert panel ATM-related cancer predisposition
- c.7089+3A>G Expert panel ATM-related cancer predisposition
- p.Ala2893Asp Expert panel ATM-related cancer predisposition ⚠
- p.Arg1466Pro Expert panel ATM-related cancer predisposition
- p.Arg2912Gly Expert panel ATM-related cancer predisposition ⚠
- p.Gln2177Pro Expert panel ATM-related cancer predisposition ⚠
- p.Glu2039Lys Expert panel ATM-related cancer predisposition
- p.Glu2039Val Expert panel ATM-related cancer predisposition
- p.Glu2294Lys Expert panel ATM-related cancer predisposition ⚠
- p.Gly197Glu Expert panel ATM-related cancer predisposition ⚠
- p.Gly2867Arg Expert panel ATM-related cancer predisposition ⚠
- p.His2554Arg Expert panel ATM-related cancer predisposition ⚠
- p.His635_His636del Expert panel ATM-related cancer predisposition
- p.Leu1617Pro Expert panel ATM-related cancer predisposition ⚠
- p.Leu2338Pro Expert panel ATM-related cancer predisposition ⚠
- p.Leu2840Phe Expert panel ATM-related cancer predisposition
- p.Phe2686Leu Expert panel ATM-related cancer predisposition ⚠
- p.Phe3049fs Expert panel ATM-related cancer predisposition
- p.Pro2699Leu Expert panel ATM-related cancer predisposition ⚠
- p.Ser421Leu Expert panel ATM-related cancer predisposition ⚠
- p.Thr1953Ile Expert panel ATM-related cancer predisposition ⚠
- p.Thr2640Ser Expert panel ATM-related cancer predisposition ⚠
- p.Thr2911Asn Expert panel ATM-related cancer predisposition ⚠
- p.Tyr2019Cys Expert panel ATM-related cancer predisposition
- p.Tyr583Cys Expert panel ATM-related cancer predisposition ⚠
- p.Val2119Leu Multiple submitters hereditary neoplastic syndrome ⚠
- p.Phe2299Leu Multiple submitters hereditary neoplastic syndrome
- p.Arg2339Ser Multiple submitters ataxia telangiectasia
- p.Phe2410Leu Multiple submitters hereditary neoplastic syndrome
- p.Ser2581Arg Multiple submitters hereditary neoplastic syndrome ⚠
- c.1065+3A>G Multiple submitters ataxia telangiectasia
- c.1065+5A>G Multiple submitters hereditary neoplastic syndrome
- c.1066-3C>T Multiple submitters hereditary neoplastic syndrome
- c.1235+4A>G Multiple submitters ataxia telangiectasia
- c.1235+4A>T Multiple submitters hereditary neoplastic syndrome
- c.1235+5A>C Multiple submitters hereditary neoplastic syndrome
- c.1236-2dup Multiple submitters ataxia telangiectasia
- c.1236-3T>A Multiple submitters hereditary neoplastic syndrome
- c.1607+3A>G Multiple submitters hereditary neoplastic syndrome
- c.1607+4A>G Multiple submitters ataxia telangiectasia
- c.1607+5G>A Multiple submitters ataxia telangiectasia
- c.1802+3A>G Multiple submitters ataxia telangiectasia
- c.1802+3A>T Multiple submitters hereditary neoplastic syndrome
- c.185+3A>G Multiple submitters hereditary neoplastic syndrome
- c.185+4T>G Multiple submitters hereditary neoplastic syndrome
- c.1898+3_1898+4del Multiple submitters
- c.1898+5_1898+6delinsAA Multiple submitters hereditary neoplastic syndrome
- c.1898+5G>A Multiple submitters ataxia telangiectasia
- c.1899-17A>G Multiple submitters hereditary breast carcinoma
- c.1899-3A>G Multiple submitters hereditary neoplastic syndrome
- c.1899-8T>A Multiple submitters hereditary breast carcinoma
- c.2124+5G>A Multiple submitters hereditary neoplastic syndrome
- c.2250+5G>A Multiple submitters ataxia telangiectasia
- c.2251-15T>A Multiple submitters hereditary neoplastic syndrome
- c.2377-7A>G Multiple submitters hereditary neoplastic syndrome
- c.2466+4A>C Multiple submitters hereditary breast carcinoma
- c.2466+4A>G Multiple submitters hereditary neoplastic syndrome
- c.2922-3C>T Multiple submitters ataxia telangiectasia
- c.3077+5G>A Multiple submitters hereditary breast carcinoma
- c.3078-10T>G Multiple submitters ataxia telangiectasia
- c.3153+3G>T Multiple submitters hereditary neoplastic syndrome
- c.3153+4A>G Multiple submitters hereditary neoplastic syndrome
- c.3153+5G>A Multiple submitters hereditary neoplastic syndrome
- c.3154-5C>A Multiple submitters hereditary breast carcinoma
- c.3284+3A>G Multiple submitters ataxia telangiectasia
- c.3284+4A>G Multiple submitters ataxia telangiectasia
- c.3285-2_3338dup Multiple submitters ataxia telangiectasia
- c.331+3A>C Multiple submitters ataxia telangiectasia
- c.332_334delGAG Multiple submitters hereditary neoplastic syndrome
- c.332-4A>G Multiple submitters ataxia telangiectasia
- c.3402+17T>G Multiple submitters hereditary breast carcinoma
- c.3402+3A>G Multiple submitters ATM-related disorder
- c.3576+3A>G Multiple submitters hereditary neoplastic syndrome
- c.3577-7C>A Multiple submitters hereditary neoplastic syndrome
- c.3993+3A>G Multiple submitters hereditary neoplastic syndrome
- c.3993+6G>A Multiple submitters Breast and/or ovarian cancer
- c.4109+3A>G Multiple submitters ataxia telangiectasia
- c.4109+6T>G Multiple submitters hereditary neoplastic syndrome
- c.4236+2_4236+3insCT Multiple submitters hereditary neoplastic syndrome
- c.4236+5G>A Multiple submitters ataxia telangiectasia
- c.4237-7_4237-5del Multiple submitters ataxia telangiectasia
- c.4436+6T>C Multiple submitters ataxia telangiectasia
- c.4611+3A>G Multiple submitters hereditary neoplastic syndrome
- c.4611+4A>G Multiple submitters ataxia telangiectasia
- c.4776+4A>G Multiple submitters ataxia telangiectasia
- c.4777-27_4788dup Multiple submitters ataxia telangiectasia
- c.4777-4_4777-3del Multiple submitters hereditary neoplastic syndrome
- c.4777-7_4777-6del Multiple submitters hereditary neoplastic syndrome
- c.4909+4C>G Multiple submitters hereditary neoplastic syndrome
- c.496+4T>A Multiple submitters ataxia telangiectasia
- c.5005+3A>C Multiple submitters ataxia telangiectasia
- c.5006-5T>A Multiple submitters hereditary neoplastic syndrome
- c.5177+4A>C Multiple submitters hereditary neoplastic syndrome
- c.5178-14A>G Multiple submitters ataxia telangiectasia
- c.5178-5T>A Multiple submitters ataxia telangiectasia
- c.5319+3C>T Multiple submitters hereditary neoplastic syndrome
- c.5319+4T>C Multiple submitters hereditary neoplastic syndrome
- c.5319+5C>T Multiple submitters hereditary neoplastic syndrome
- c.5496+4A>G Multiple submitters hereditary neoplastic syndrome
- c.5497-3T>C Multiple submitters ataxia telangiectasia
- c.5497-5T>G Multiple submitters hereditary neoplastic syndrome
- c.5675-10T>G Multiple submitters familial colorectal cancer type X
- c.5762+5T>C Multiple submitters ataxia telangiectasia
- c.5763-1080A>G Multiple submitters ataxia telangiectasia
- c.6006+4_6006+5del Multiple submitters hereditary neoplastic syndrome
- c.6006+4A>C Multiple submitters ataxia telangiectasia
- c.6006+6T>C Multiple submitters ataxia telangiectasia
- c.6007-3C>G Multiple submitters ataxia telangiectasia
- c.6199-3del Multiple submitters hereditary neoplastic syndrome
- c.6347+3A>G Multiple submitters hereditary neoplastic syndrome
- c.6453-3T>A Multiple submitters ataxia telangiectasia
- c.6453-4C>G Multiple submitters ataxia telangiectasia
- c.6573-15T>G Multiple submitters hereditary neoplastic syndrome
- c.662+3A>G Multiple submitters hereditary neoplastic syndrome
- c.662+4A>G Multiple submitters hereditary neoplastic syndrome
- c.663-3C>G Multiple submitters hereditary neoplastic syndrome
- c.663-3C>T Multiple submitters hereditary neoplastic syndrome
- c.663-8C>A Multiple submitters hereditary neoplastic syndrome
- c.6808-3C>G Multiple submitters hereditary neoplastic syndrome
- c.6975+5_6975+6del Multiple submitters ataxia telangiectasia
- c.6975+5_6975+8del Multiple submitters hereditary neoplastic syndrome
- c.6975+6T>C Multiple submitters hereditary neoplastic syndrome
- c.6976-12T>G Multiple submitters hereditary neoplastic syndrome
- c.6976-3C>T Multiple submitters ataxia telangiectasia
- c.7089+4A>C Multiple submitters hereditary neoplastic syndrome
- c.7089+5G>T Multiple submitters ataxia telangiectasia
- c.72+3A>C Multiple submitters hereditary neoplastic syndrome
- c.72+3A>G Multiple submitters hereditary neoplastic syndrome
- c.73-3del Multiple submitters hereditary neoplastic syndrome
- c.7515+4del Multiple submitters hereditary neoplastic syndrome
- c.7516-3T>C Multiple submitters hereditary neoplastic syndrome
- c.7629+3A>C Multiple submitters hereditary neoplastic syndrome
- c.7630-3_7630-2del Multiple submitters hereditary neoplastic syndrome
- c.7630-3C>A Multiple submitters hereditary neoplastic syndrome
- c.7789-3T>C Multiple submitters hereditary neoplastic syndrome
- c.7927+4T>C Multiple submitters ataxia telangiectasia
- c.7927+5G>C Multiple submitters hereditary neoplastic syndrome
- c.7927+6T>G Multiple submitters hereditary breast carcinoma
- c.7928-1G>A Multiple submitters hereditary neoplastic syndrome
- c.7928-2A>C Multiple submitters hereditary neoplastic syndrome
- c.7928-2A>T Multiple submitters hereditary neoplastic syndrome
- c.7991_8010+8dup Multiple submitters hereditary neoplastic syndrome
- c.8011-10C>G Multiple submitters hereditary breast carcinoma
- c.8011-3T>C Multiple submitters ataxia telangiectasia
- c.8011-5A>G Multiple submitters hereditary neoplastic syndrome
- c.8151+4A>T Multiple submitters hereditary neoplastic syndrome
- c.8151+5G>A Multiple submitters hereditary neoplastic syndrome
- c.8151+5G>C Multiple submitters ataxia telangiectasia
- c.8152-5T>A Multiple submitters ataxia telangiectasia
- c.8152-8T>G Multiple submitters hereditary neoplastic syndrome
- c.8418+6T>C Multiple submitters hereditary neoplastic syndrome
- c.8584+3A>G Multiple submitters ataxia telangiectasia
- c.8584+4A>G Multiple submitters hereditary neoplastic syndrome
- c.8584+5T>C Multiple submitters hereditary neoplastic syndrome
- c.8585-3C>A Multiple submitters hereditary neoplastic syndrome
- c.8585-3C>T Multiple submitters hereditary neoplastic syndrome
- c.8671+4A>C Multiple submitters ataxia telangiectasia
- c.8672-11_8672-9del Multiple submitters ataxia telangiectasia
- c.8672-3T>G Multiple submitters ataxia telangiectasia
- c.8672-6_8672-2del Multiple submitters ataxia telangiectasia
- c.8786+2dup Multiple submitters hereditary neoplastic syndrome
- c.8850+3A>G Multiple submitters hereditary neoplastic syndrome
- c.8850+5A>G Multiple submitters ataxia telangiectasia
- c.8850+5A>T Multiple submitters hereditary neoplastic syndrome
- c.8988-8dup Multiple submitters ataxia telangiectasia
- c.901+10A>T Multiple submitters ataxia telangiectasia
- c.901+4T>G Multiple submitters hereditary neoplastic syndrome
- c.902-3C>T Multiple submitters ataxia telangiectasia
- c.-19T>C Multiple submitters hereditary neoplastic syndrome
- c.-1C>T Multiple submitters hereditary neoplastic syndrome
- c.-2C>T Multiple submitters hereditary neoplastic syndrome
- c.-371G>C Multiple submitters hereditary breast carcinoma
- c.-3A>G Multiple submitters hereditary neoplastic syndrome
- c.-94G>A Multiple submitters ataxia telangiectasia
- p.Ala1014Thr Multiple submitters hereditary neoplastic syndrome ⚠
- p.Ala1024Pro Multiple submitters hereditary neoplastic syndrome
- p.Ala1024Thr Multiple submitters hereditary neoplastic syndrome
- p.Ala1024Val Multiple submitters hereditary neoplastic syndrome
- p.Ala1041Ser Multiple submitters ataxia telangiectasia ⚠
- p.Ala1041Thr Multiple submitters ataxia telangiectasia ⚠
- p.Ala1052Gly Multiple submitters ataxia telangiectasia ⚠
- p.Ala1052Pro Multiple submitters ataxia telangiectasia
- p.Ala1052Thr Multiple submitters hereditary neoplastic syndrome ⚠
- p.Ala1059Ser Multiple submitters ataxia telangiectasia ⚠
- p.Ala1059Val Multiple submitters ataxia telangiectasia
- p.Ala1079Gly Multiple submitters hereditary neoplastic syndrome ⚠
- p.Ala1079Phe Multiple submitters hereditary neoplastic syndrome
- p.Ala1079Thr Multiple submitters ataxia telangiectasia ⚠
- p.Ala108Gly Multiple submitters hereditary neoplastic syndrome ⚠
- p.Ala108Thr Multiple submitters hereditary neoplastic syndrome ⚠
- p.Ala108Val Multiple submitters ataxia telangiectasia ⚠
- p.Ala1090Val Multiple submitters ataxia telangiectasia ⚠
- p.Ala1110Thr Multiple submitters ATM-related cancer predisposition ⚠
- p.Ala1110Val Multiple submitters hereditary breast carcinoma ⚠
- p.Ala1119Asp Multiple submitters ataxia telangiectasia
- p.Ala1119Ser Multiple submitters hereditary neoplastic syndrome ⚠
- p.Ala1119Val Multiple submitters hereditary neoplastic syndrome ⚠
- p.Ala1123Thr Multiple submitters ataxia telangiectasia ⚠
- p.Ala112Val Multiple submitters hereditary neoplastic syndrome ⚠
- p.Ala1138Val Multiple submitters hereditary neoplastic syndrome ⚠
- p.Ala1172Pro Multiple submitters hereditary neoplastic syndrome
- p.Ala1172Ser Multiple submitters hereditary neoplastic syndrome ⚠
- p.Ala1172Val Multiple submitters hereditary neoplastic syndrome
- p.Ala1175Val Multiple submitters hereditary breast carcinoma
- p.Ala1272Asp Multiple submitters hereditary neoplastic syndrome
- p.Ala1272Thr Multiple submitters hereditary neoplastic syndrome
- p.Ala1299Val Multiple submitters hereditary neoplastic syndrome ⚠
- p.Ala1309Pro Multiple submitters hereditary neoplastic syndrome ⚠
- p.Ala1315Ser Multiple submitters hereditary neoplastic syndrome
- p.Ala1355Glu Multiple submitters hereditary neoplastic syndrome ⚠
- p.Ala1359Thr Multiple submitters hereditary neoplastic syndrome ⚠
- p.Ala135Gly Multiple submitters hereditary neoplastic syndrome ⚠
- p.Ala135Thr Multiple submitters ataxia telangiectasia ⚠
- p.Ala1388Gly Multiple submitters hereditary breast carcinoma
- p.Ala1388Thr Multiple submitters hereditary neoplastic syndrome
- p.Ala1391Thr Multiple submitters ataxia telangiectasia ⚠
- p.Ala1391Val Multiple submitters hereditary neoplastic syndrome ⚠
- p.Ala1421Asp Multiple submitters ataxia telangiectasia
- p.Ala1421Thr Multiple submitters hereditary neoplastic syndrome
- p.Ala1421Val Multiple submitters ataxia telangiectasia
- p.Ala1460Gly Multiple submitters hereditary neoplastic syndrome
- p.Ala1460Ser Multiple submitters hereditary neoplastic syndrome ⚠
- p.Ala1460Val Multiple submitters hereditary neoplastic syndrome
- p.Ala1512Thr Multiple submitters hereditary breast carcinoma
- p.Ala1512Val Multiple submitters hereditary neoplastic syndrome
- p.Ala1634Thr Multiple submitters hereditary neoplastic syndrome ⚠
- p.Ala1658Ser Multiple submitters ataxia telangiectasia ⚠
- p.Ala1658Thr Multiple submitters hereditary neoplastic syndrome ⚠
- p.Ala1670Ser Multiple submitters hereditary neoplastic syndrome
- p.Ala1687Pro Multiple submitters
- p.Ala1687Val Multiple submitters hereditary neoplastic syndrome
- p.Ala1699Val Multiple submitters ataxia telangiectasia ⚠
- p.Ala1732Gly Multiple submitters familial colorectal cancer type X ⚠
- p.Ala1732Thr Multiple submitters hereditary neoplastic syndrome
- p.Ala1733Thr Multiple submitters hereditary neoplastic syndrome
- p.Ala1733Val Multiple submitters hereditary neoplastic syndrome
- p.Ala1742Val Multiple submitters ataxia telangiectasia
- p.Ala1812Pro Multiple submitters ataxia telangiectasia
- p.Ala1812Val Multiple submitters hereditary neoplastic syndrome ⚠
- p.Ala1887Val Multiple submitters hereditary neoplastic syndrome ⚠
- p.Ala188Asp Multiple submitters ataxia telangiectasia ⚠
- p.Ala188Gly Multiple submitters hereditary neoplastic syndrome ⚠
- p.Ala1931Val Multiple submitters ataxia telangiectasia ⚠
- p.Ala193Gly Multiple submitters hereditary neoplastic syndrome ⚠
- p.Ala1942Ser Multiple submitters hereditary neoplastic syndrome
- p.Ala1942Thr Multiple submitters hereditary neoplastic syndrome ⚠
- p.Ala1945Val Multiple submitters hereditary neoplastic syndrome
- p.Ala1949Thr Multiple submitters hereditary neoplastic syndrome ⚠
- p.Ala1950Thr Multiple submitters hereditary neoplastic syndrome
- p.Ala1950Val Multiple submitters hereditary neoplastic syndrome ⚠
- p.Ala1954Gly Multiple submitters ataxia telangiectasia
- p.Ala1954Pro Multiple submitters hereditary neoplastic syndrome
- p.Ala1976Gly Multiple submitters hereditary neoplastic syndrome ⚠
- p.Ala1976Val Multiple submitters ataxia telangiectasia ⚠
- p.Ala2040Glu Multiple submitters hereditary neoplastic syndrome
- p.Ala2040Ile Multiple submitters hereditary neoplastic syndrome
- p.Ala2040Pro Multiple submitters hereditary neoplastic syndrome
- p.Ala2040Val Multiple submitters hereditary neoplastic syndrome
- p.Ala2045Asp Multiple submitters hereditary neoplastic syndrome
- p.Ala2045Thr Multiple submitters hereditary neoplastic syndrome
- p.Ala2045Val Multiple submitters hereditary neoplastic syndrome
- p.Ala2067Ser Multiple submitters ataxia telangiectasia ⚠
- p.Ala2067Thr Multiple submitters hereditary neoplastic syndrome
- p.Ala20Thr Multiple submitters hereditary neoplastic syndrome ⚠
- p.Ala2102Pro Multiple submitters hereditary neoplastic syndrome ⚠
- p.Ala2102Ser Multiple submitters hereditary neoplastic syndrome
- p.Ala2102Val Multiple submitters hereditary breast carcinoma
- p.Ala2131Asp Multiple submitters ataxia telangiectasia ⚠
- p.Ala2150Thr Multiple submitters ataxia telangiectasia
- p.Ala2225Thr Multiple submitters hereditary neoplastic syndrome
- p.Ala2262Asp Multiple submitters hereditary neoplastic syndrome ⚠
- p.Ala2262Pro Multiple submitters hereditary neoplastic syndrome ⚠
- p.Ala2274Ser Multiple submitters hereditary neoplastic syndrome
- p.Ala2296Thr Multiple submitters ataxia telangiectasia ⚠
- p.Ala2301Glu Multiple submitters hereditary breast carcinoma
- p.Ala2301Pro Multiple submitters hereditary neoplastic syndrome ⚠
- p.Ala2301Thr Multiple submitters hereditary neoplastic syndrome
- p.Ala2308Ser Multiple submitters hereditary neoplastic syndrome
- p.Ala2308Thr Multiple submitters hereditary neoplastic syndrome ⚠
- p.Ala2308Val Multiple submitters hereditary neoplastic syndrome ⚠
- p.Ala2321Asp Multiple submitters ataxia telangiectasia ⚠
- p.Ala2346Thr Multiple submitters ataxia telangiectasia
- p.Ala2346Val Multiple submitters hereditary breast carcinoma ⚠
- p.Ala2354Glu Multiple submitters hereditary neoplastic syndrome
- p.Ala2354Val Multiple submitters hereditary neoplastic syndrome ⚠
- p.Ala2364Pro Multiple submitters hereditary neoplastic syndrome ⚠
- p.Ala2364Val Multiple submitters hereditary neoplastic syndrome
- p.Ala2368Ser Multiple submitters ataxia telangiectasia ⚠
- p.Ala2386Pro Multiple submitters hereditary neoplastic syndrome ⚠
- p.Ala2391Thr Multiple submitters hereditary neoplastic syndrome ⚠
- p.Ala2391Val Multiple submitters hereditary neoplastic syndrome ⚠
- p.Ala2415Gly Multiple submitters ATM-related cancer predisposition
- p.Ala2415Val Multiple submitters hereditary neoplastic syndrome
- p.Ala2451Pro Multiple submitters hereditary neoplastic syndrome
- p.Ala2451Ser Multiple submitters hereditary neoplastic syndrome
- p.Ala2451Val Multiple submitters hereditary neoplastic syndrome
- p.Ala2454Pro Multiple submitters ataxia telangiectasia
- p.Ala2466Thr Multiple submitters ataxia telangiectasia ⚠
- p.Ala2466Val Multiple submitters ataxia telangiectasia ⚠