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.

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

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.

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

Predictors split 331

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 331

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.

Conflicting classifications of pathogenicity 1450

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

Benign 359

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

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.

Uncertain significance 8124

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