Sugi Variant

Sugi Variant/MRE11

MRE11 — 2304 ClinVar variants

All ClinVar germline MRE11 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1152 flagged for review →

58 Pathogenic · 46 Pathogenic/Likely pathogenic · 78 Likely pathogenic · 99 Conflicting · 66 Benign · 23 Benign/Likely benign · 625 Likely benign · 1309 Uncertain significance

Full MRE11 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1152

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 agree, ClinVar conflicts 39

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 882

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 882

Predictors split 231

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 231

All MRE11 variants

Pathogenic 58

Pathogenic/Likely pathogenic 46

  • c.1225+2T>C Multiple submitters hereditary neoplastic syndrome
  • c.1867+2T>C Multiple submitters ataxia-telangiectasia-like disorder
  • c.1927-2A>G Multiple submitters ataxia-telangiectasia-like disorder
  • c.403-2A>T Multiple submitters hereditary neoplastic syndrome
  • c.659+1G>A Multiple submitters MRE11-related disorder
  • c.845+2T>A Multiple submitters ataxia-telangiectasia-like disorder
  • p.Arg191Ter Multiple submitters hereditary neoplastic syndrome
  • p.Arg364Ter Multiple submitters MRE11A-related disorders
  • p.Arg366Ter Multiple submitters ataxia-telangiectasia-like disorder
  • p.Arg483Ter Multiple submitters ataxia-telangiectasia-like disorder
  • p.Arg572Ter Multiple submitters MRE11A-related disorders
  • p.Arg576Ter Multiple submitters MRE11A-related disorders
  • p.Arg628Ter Multiple submitters hereditary neoplastic syndrome
  • p.Asn511fs Multiple submitters hereditary neoplastic syndrome
  • p.Gln218Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln259Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln404Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln591Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln630Ter Multiple submitters ataxia-telangiectasia-like disorder
  • p.Glu350fs Multiple submitters ataxia-telangiectasia-like disorder
  • p.Glu506Ter Multiple submitters ataxia-telangiectasia-like disorder
  • p.Glu535Ter Multiple submitters ataxia-telangiectasia-like disorder
  • p.Glu77Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gly372fs Multiple submitters ataxia-telangiectasia-like disorder 1
  • p.Gly593fs Multiple submitters hereditary neoplastic syndrome
  • p.Ile418fs Multiple submitters hereditary neoplastic syndrome
  • p.Leu169fs Multiple submitters MRE11A-related disorders
  • p.Leu274fs Multiple submitters hereditary neoplastic syndrome
  • p.Leu379fs Multiple submitters hereditary neoplastic syndrome
  • p.Leu427fs Multiple submitters ataxia-telangiectasia-like disorder
  • p.Leu545fs Multiple submitters ataxia-telangiectasia-like disorder 1
  • p.Leu57Ter Multiple submitters ataxia-telangiectasia-like disorder
  • p.Lys222Ter Multiple submitters ataxia-telangiectasia-like disorder 1
  • p.Lys339Ter Multiple submitters ataxia-telangiectasia-like disorder
  • p.Lys486fs Multiple submitters ataxia-telangiectasia-like disorder 1
  • p.Met309fs Multiple submitters hereditary neoplastic syndrome
  • p.Phe376fs Multiple submitters ataxia-telangiectasia-like disorder
  • p.Phe381fs Multiple submitters ataxia-telangiectasia-like disorder
  • p.Ser269Ter Multiple submitters ataxia-telangiectasia-like disorder 1
  • p.Thr408fs Multiple submitters hereditary neoplastic syndrome
  • p.Thr481fs Multiple submitters hereditary neoplastic syndrome
  • p.Trp210Cys Multiple submitters MRE11A-related disorders
  • p.Tyr262fs Multiple submitters hereditary neoplastic syndrome
  • p.Val313_Leu314insTer Multiple submitters ataxia-telangiectasia-like disorder
  • p.Val367fs Multiple submitters ataxia-telangiectasia-like disorder
  • p.Val99fs Multiple submitters ataxia-telangiectasia-like disorder

Likely pathogenic 78

  • c.1098+2T>C Multiple submitters ataxia-telangiectasia-like disorder
  • c.1225_1225+1delinsCA Multiple submitters ataxia-telangiectasia-like disorder
  • c.1326+2T>G Multiple submitters hereditary neoplastic syndrome
  • c.1327-2A>G Multiple submitters ataxia-telangiectasia-like disorder
  • c.1783+1G>A Multiple submitters hereditary neoplastic syndrome
  • c.1927-1G>T Multiple submitters ataxia-telangiectasia-like disorder
  • c.314+2T>C Multiple submitters hereditary neoplastic syndrome
  • c.315-1G>A Multiple submitters ataxia-telangiectasia-like disorder 1
  • c.315-2A>G Multiple submitters MRE11A-related disorders
  • c.402+1G>A Multiple submitters ataxia-telangiectasia-like disorder
  • c.402+2_402+3delinsGGG Multiple submitters ataxia-telangiectasia-like disorder
  • c.545-1G>A Multiple submitters ataxia-telangiectasia-like disorder 1
  • c.846-1G>T Multiple submitters ataxia-telangiectasia-like disorder
  • c.846-2A>C Multiple submitters hereditary neoplastic syndrome
  • p.Gln582fs Multiple submitters ataxia-telangiectasia-like disorder 1
  • p.Trp108Ter Multiple submitters MRE11A-related disorders
  • c.1017+1G>A Single submitter ataxia-telangiectasia-like disorder
  • c.1018-1G>A Single submitter hereditary neoplastic syndrome
  • c.1018-4_1018-2delinsGG Single submitter ataxia-telangiectasia-like disorder 1
  • c.1098+1G>T Single submitter ataxia-telangiectasia-like disorder 1
  • c.1225+1G>A Single submitter hereditary neoplastic syndrome
  • c.1225+2T>A Single submitter ataxia-telangiectasia-like disorder
  • c.1226-2A>C Single submitter hereditary neoplastic syndrome
  • c.1226-912C>T Single submitter ataxia-telangiectasia-like disorder 1
  • c.1280_1281insALU Single submitter hereditary neoplastic syndrome
  • c.1326+2T>C Single submitter ataxia-telangiectasia-like disorder 1
  • c.1327-1del Single submitter ataxia-telangiectasia-like disorder 1
  • c.1327-1G>C Single submitter hereditary neoplastic syndrome
  • c.14_15insALU Single submitter hereditary neoplastic syndrome
  • c.1500+1153_1563+1027del Single submitter ataxia-telangiectasia-like disorder 1
  • c.1500+1G>A Single submitter ataxia-telangiectasia-like disorder
  • c.1500+2del Single submitter ataxia-telangiectasia-like disorder
  • c.1500+2T>A Single submitter ataxia-telangiectasia-like disorder 1
  • c.1501-2A>G Single submitter ataxia-telangiectasia-like disorder 1
  • c.153+1G>T Single submitter ataxia-telangiectasia-like disorder
  • c.154-1G>A Single submitter hereditary neoplastic syndrome
  • c.1564-1G>A Single submitter hereditary neoplastic syndrome
  • c.1784-2A>G Single submitter hereditary neoplastic syndrome
  • c.1867+1G>A Single submitter
  • c.1868-2A>C Single submitter hereditary neoplastic syndrome
  • c.1926+2_1926+5del Single submitter hereditary neoplastic syndrome
  • c.1926+2T>C Single submitter hereditary neoplastic syndrome
  • c.1994+1G>A Single submitter ataxia-telangiectasia-like disorder
  • c.1994+1G>C Single submitter hereditary neoplastic syndrome
  • c.1995-2A>G Single submitter hereditary neoplastic syndrome
  • c.20+1G>A Single submitter ataxia-telangiectasia-like disorder 1
  • c.20+1G>C Single submitter ataxia-telangiectasia-like disorder
  • c.20+2T>C Single submitter ataxia-telangiectasia-like disorder
  • c.21-1G>A Single submitter hereditary neoplastic syndrome
  • c.314+1G>A Single submitter ataxia-telangiectasia-like disorder
  • c.314+1G>T Single submitter ataxia-telangiectasia-like disorder 1
  • c.403-2A>G Single submitter hereditary neoplastic syndrome
  • c.660-1G>A Single submitter hereditary neoplastic syndrome
  • c.845+6T>G Single submitter
  • p.Asn583fs Single submitter ataxia-telangiectasia-like disorder 1
  • p.Asp163fs Single submitter ataxia-telangiectasia-like disorder 1
  • p.Asp516fs Single submitter ataxia-telangiectasia-like disorder 1
  • p.Asp8Ter Single submitter hereditary neoplastic syndrome
  • p.Gln258Ter Single submitter
  • p.Gln357Ter Single submitter ataxia-telangiectasia-like disorder 1
  • p.Glu231fs Single submitter ataxia-telangiectasia-like disorder 1
  • p.Glu257fs Single submitter ataxia-telangiectasia-like disorder 1
  • p.Glu430Ter Single submitter ataxia-telangiectasia-like disorder 1
  • p.Glu600fs Single submitter ataxia-telangiectasia-like disorder 1
  • p.Gly453fs Single submitter ataxia-telangiectasia-like disorder 1
  • p.His129Leu Single submitter ovarian cancer
  • p.Ile396fs Single submitter ataxia-telangiectasia-like disorder 1
  • p.Leu16Ter Single submitter hereditary neoplastic syndrome
  • p.Leu234fs Single submitter ataxia-telangiectasia-like disorder 1
  • p.Leu78Ter Single submitter ataxia-telangiectasia-like disorder 1
  • p.Lys250_Ile251insTer Single submitter ataxia-telangiectasia-like disorder 1
  • p.Met1Ile Single submitter hereditary neoplastic syndrome
  • p.Phe308fs Single submitter ataxia-telangiectasia-like disorder 1
  • p.Ser533Ter Single submitter ataxia-telangiectasia-like disorder 1
  • p.Thr19fs Single submitter hereditary neoplastic syndrome
  • p.Thr481Lys Single submitter ataxia-telangiectasia-like disorder
  • p.Tyr111fs Single submitter ataxia-telangiectasia-like disorder 1
  • p.Val159fs Single submitter ataxia-telangiectasia-like disorder 1

Conflicting classifications of pathogenicity 99

  • c.1225+10T>G Single submitter ataxia-telangiectasia-like disorder
  • c.1326+3A>G Single submitter hereditary neoplastic syndrome
  • c.1501-4C>G Single submitter ataxia-telangiectasia-like disorder
  • c.154-11C>G Single submitter ataxia-telangiectasia-like disorder
  • c.1563+1G>A Single submitter ataxia-telangiectasia-like disorder
  • c.1783+10G>C Single submitter ataxia-telangiectasia-like disorder
  • c.1783+5G>C Single submitter ataxia-telangiectasia-like disorder
  • c.1783+7A>G Single submitter hereditary neoplastic syndrome
  • c.1784-5A>G Single submitter ataxia-telangiectasia-like disorder
  • c.1868-4C>A Single submitter ataxia-telangiectasia-like disorder 1
  • c.1868-5T>C Single submitter hereditary neoplastic syndrome
  • c.1927-5G>T Single submitter hereditary neoplastic syndrome
  • c.20+8C>A Single submitter ataxia-telangiectasia-like disorder 1
  • c.2070+14A>C Single submitter ataxia-telangiectasia-like disorder
  • c.2070+2T>A Single submitter ataxia-telangiectasia-like disorder
  • c.21-10C>G Single submitter ataxia-telangiectasia-like disorder 1
  • c.21-11_21-8del Single submitter ataxia-telangiectasia-like disorder
  • c.21-6_26del Single submitter ataxia-telangiectasia-like disorder
  • c.314+4_314+7del Single submitter MRE11-related disorder
  • c.315-4del Single submitter ataxia-telangiectasia-like disorder
  • c.403-6_403-5delinsAT Single submitter ataxia-telangiectasia-like disorder
  • c.660-5T>G Single submitter ataxia-telangiectasia-like disorder
  • c.660-7G>T Single submitter ataxia-telangiectasia-like disorder
  • c.846-12T>C Single submitter ataxia-telangiectasia-like disorder
  • c.846-7A>G Single submitter ataxia-telangiectasia-like disorder
  • c.-95A>G Single submitter ataxia-telangiectasia-like disorder 1
  • p.Ala177Thr Single submitter Hereditary cancer ⚠
  • p.Ala492Asp Single submitter ataxia-telangiectasia-like disorder ⚠
  • p.Ala6Thr Single submitter ataxia-telangiectasia-like disorder ⚠
  • p.Arg288His Single submitter ataxia-telangiectasia-like disorder ⚠
  • p.Arg351His Single submitter ataxia-telangiectasia-like disorder ⚠
  • p.Arg364= Single submitter ataxia-telangiectasia-like disorder
  • p.Arg488Cys Single submitter ataxia-telangiectasia-like disorder ⚠
  • p.Arg502Cys Single submitter ataxia-telangiectasia-like disorder ⚠
  • p.Arg576Gln Single submitter ataxia-telangiectasia-like disorder ⚠
  • p.Arg594= Single submitter ataxia-telangiectasia-like disorder
  • p.Arg604His Single submitter ataxia-telangiectasia-like disorder ⚠
  • p.Arg604Pro Single submitter ataxia-telangiectasia-like disorder ⚠
  • p.Asn117Ser Single submitter ataxia-telangiectasia-like disorder ⚠
  • p.Asn195= Single submitter hereditary neoplastic syndrome
  • p.Asn208= Single submitter hereditary neoplastic syndrome
  • p.Asn316Asp Single submitter ataxia-telangiectasia-like disorder ⚠
  • p.Asn346Asp Single submitter hereditary neoplastic syndrome ⚠
  • p.Asn556Ser Single submitter ataxia-telangiectasia-like disorder ⚠
  • p.Asn607Ser Single submitter ataxia-telangiectasia-like disorder ⚠
  • p.Asp142= Single submitter ataxia-telangiectasia-like disorder
  • p.Asp468= Single submitter ataxia-telangiectasia-like disorder
  • p.Asp663Asn Single submitter ataxia-telangiectasia-like disorder ⚠
  • p.Asp692Glu Single submitter ataxia-telangiectasia-like disorder ⚠
  • p.Gln259= Single submitter ataxia-telangiectasia-like disorder
  • p.Gln677Ter Single submitter hereditary neoplastic syndrome
  • p.Gln679= Single submitter ataxia-telangiectasia-like disorder
  • p.Glu411= Single submitter hereditary neoplastic syndrome
  • p.Glu494Lys Single submitter ataxia-telangiectasia-like disorder ⚠
  • p.Glu515= Single submitter ataxia-telangiectasia-like disorder 1
  • p.Glu600Asp Single submitter ataxia-telangiectasia-like disorder ⚠
  • p.Glu600Gln Single submitter ataxia-telangiectasia-like disorder ⚠
  • p.Gly102Val Single submitter ataxia-telangiectasia-like disorder ⚠
  • p.Gly134= Single submitter ataxia-telangiectasia-like disorder
  • p.Ile176Val Single submitter ataxia-telangiectasia-like disorder ⚠
  • p.Ile263Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile395= Single submitter ataxia-telangiectasia-like disorder
  • p.Ile395Val Single submitter ataxia-telangiectasia-like disorder ⚠
  • p.Ile497= Single submitter ataxia-telangiectasia-like disorder
  • p.Ile548Thr Single submitter ataxia-telangiectasia-like disorder ⚠
  • p.Ile655= Single submitter hereditary neoplastic syndrome
  • p.Leu178= Single submitter ataxia-telangiectasia-like disorder
  • p.Leu274= Single submitter ataxia-telangiectasia-like disorder
  • p.Leu314= Single submitter ataxia-telangiectasia-like disorder
  • p.Leu40= Single submitter ataxia-telangiectasia-like disorder
  • p.Leu40Phe Single submitter ataxia-telangiectasia-like disorder ⚠
  • p.Leu7Phe Single submitter ataxia-telangiectasia-like disorder ⚠
  • p.Lys407Asn Single submitter ataxia-telangiectasia-like disorder ⚠
  • p.Lys420Thr Single submitter ataxia-telangiectasia-like disorder ⚠
  • p.Lys661fs Single submitter MRE11A-related disorders
  • p.Met157Val Single submitter ataxia-telangiectasia-like disorder ⚠
  • p.Met26Thr Single submitter ataxia-telangiectasia-like disorder
  • p.Pro230Leu Single submitter ataxia-telangiectasia-like disorder ⚠
  • p.Pro358= Single submitter ataxia-telangiectasia-like disorder
  • p.Ser225Gly Single submitter hereditary neoplastic syndrome ⚠
  • p.Ser377Asn Single submitter hereditary neoplastic syndrome ⚠
  • p.Ser586= Single submitter ataxia-telangiectasia-like disorder
  • p.Ser681Leu Single submitter ataxia-telangiectasia-like disorder ⚠
  • p.Thr12= Single submitter hereditary neoplastic syndrome
  • p.Thr174= Single submitter hereditary neoplastic syndrome
  • p.Thr226Ser Single submitter ataxia-telangiectasia-like disorder ⚠
  • p.Thr425= Single submitter ataxia-telangiectasia-like disorder
  • p.Thr425Ser Single submitter ataxia-telangiectasia-like disorder ⚠
  • p.Thr524Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Thr610Ala Single submitter hereditary neoplastic syndrome ⚠
  • p.Thr658= Single submitter ataxia-telangiectasia-like disorder
  • p.Thr658Ala Single submitter ataxia-telangiectasia-like disorder ⚠
  • p.Thr700Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Val363Ile Single submitter ataxia-telangiectasia-like disorder ⚠
  • p.Val389Ile Single submitter ovarian cancer ⚠
  • p.Val429Ala Single submitter ataxia-telangiectasia-like disorder ⚠
  • p.Val52= Single submitter hereditary neoplastic syndrome
  • p.Val646Ile Single submitter hereditary neoplastic syndrome ⚠
  • p.Val99= Single submitter ataxia-telangiectasia-like disorder

Benign 66

Benign/Likely benign 23

  • c.1098+8C>A Multiple submitters ataxia-telangiectasia-like disorder
  • c.1099-26G>C Multiple submitters hereditary breast ovarian cancer syndrome
  • c.1225+23G>T Multiple submitters hereditary breast ovarian cancer syndrome
  • c.153+254A>G Multiple submitters
  • c.20+141G>A Multiple submitters
  • c.2071-53G>T Multiple submitters ataxia-telangiectasia-like disorder 1
  • c.315-14dup Multiple submitters ataxia-telangiectasia-like disorder
  • c.315-5_315-4dup Multiple submitters hereditary neoplastic syndrome
  • c.545-44C>T Multiple submitters hereditary breast ovarian cancer syndrome
  • c.659+30C>G Multiple submitters hereditary breast ovarian cancer syndrome
  • c.845+11T>C Multiple submitters ataxia-telangiectasia-like disorder
  • p.Arg594Gly Multiple submitters ataxia-telangiectasia-like disorder
  • p.Asp41Asn Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Glu257= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Glu27= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Gly154= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Phe13Ile Multiple submitters ataxia-telangiectasia-like disorder
  • p.Pro323= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Pro67= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Ser641= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Ser668= Multiple submitters ataxia-telangiectasia-like disorder 1
  • p.Thr481= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Val684= Multiple submitters ataxia-telangiectasia-like disorder

Likely benign 625

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

  • c.1098+10A>G Multiple submitters ataxia-telangiectasia-like disorder
  • c.1099-105C>G Multiple submitters
  • c.1099-12C>T Multiple submitters ataxia-telangiectasia-like disorder
  • c.1225+27A>G Multiple submitters hereditary breast ovarian cancer syndrome
  • c.1326+93G>T Multiple submitters hereditary breast ovarian cancer syndrome
  • c.1501-4C>A Multiple submitters ataxia-telangiectasia-like disorder
  • c.1501-8T>C Multiple submitters ataxia-telangiectasia-like disorder
  • c.153+14G>C Multiple submitters ataxia-telangiectasia-like disorder
  • c.154-5A>T Multiple submitters ataxia-telangiectasia-like disorder
  • c.1563+19A>G Multiple submitters ataxia-telangiectasia-like disorder
  • c.1564-15TCT[4] Multiple submitters ataxia-telangiectasia-like disorder
  • c.1783+19C>G Multiple submitters ataxia-telangiectasia-like disorder
  • c.1784-17G>A Multiple submitters ataxia-telangiectasia-like disorder
  • c.1868-4C>T Multiple submitters ataxia-telangiectasia-like disorder
  • c.1926+102A>G Multiple submitters
  • c.1927-9C>A Multiple submitters ataxia-telangiectasia-like disorder
  • c.20+16C>G Multiple submitters ataxia-telangiectasia-like disorder
  • c.2070+13T>C Multiple submitters ataxia-telangiectasia-like disorder
  • c.21-14_21-12del Multiple submitters ataxia-telangiectasia-like disorder
  • c.21-4A>T Multiple submitters ataxia-telangiectasia-like disorder
  • c.21-5T>C Multiple submitters ataxia-telangiectasia-like disorder
  • c.315-228G>C Multiple submitters
  • c.315-30G>A Multiple submitters hereditary breast ovarian cancer syndrome
  • c.315-34G>T Multiple submitters hereditary breast ovarian cancer syndrome
  • c.659+10T>A Multiple submitters ataxia-telangiectasia-like disorder
  • c.660-6A>G Multiple submitters ataxia-telangiectasia-like disorder 1
  • c.845+110C>A Multiple submitters
  • p.Ala137= Multiple submitters hereditary neoplastic syndrome
  • p.Ala30= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Ala47= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Ala492= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Ala623= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Arg188= Multiple submitters hereditary neoplastic syndrome
  • p.Arg305= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Arg366= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Arg428= Multiple submitters hereditary neoplastic syndrome
  • p.Arg45= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Arg520= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Arg572= Multiple submitters hereditary neoplastic syndrome
  • p.Arg576= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Arg628= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Arg633= Multiple submitters hereditary neoplastic syndrome
  • p.Arg705= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Arg87= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Asn100= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Asn11= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Asn110= Multiple submitters hereditary neoplastic syndrome
  • p.Asn212= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Asn227= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Asn513= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Asn567= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Asn634= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Asp113= Multiple submitters hereditary neoplastic syndrome
  • p.Asp130= Multiple submitters hereditary neoplastic syndrome
  • p.Asp136= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Asp163= Multiple submitters hereditary neoplastic syndrome
  • p.Asp206= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Asp239= Multiple submitters hereditary neoplastic syndrome
  • p.Asp491= Multiple submitters hereditary neoplastic syndrome
  • p.Asp557= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Asp60= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Asp692= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Asp693= Multiple submitters hereditary neoplastic syndrome
  • p.Gln170= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Gln333= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Gln582= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Gln630= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Gln97= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Glu310= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Glu338= Multiple submitters hereditary neoplastic syndrome
  • p.Glu403= Multiple submitters hereditary neoplastic syndrome
  • p.Glu465= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Glu466= Multiple submitters hereditary neoplastic syndrome
  • p.Glu471= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Glu645= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Glu652= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Gly114= Multiple submitters hereditary neoplastic syndrome
  • p.Gly148= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Gly267= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Gly277= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Gly291= Multiple submitters hereditary neoplastic syndrome
  • p.Gly453= Multiple submitters hereditary neoplastic syndrome
  • p.Gly58= Multiple submitters hereditary neoplastic syndrome
  • p.Gly59= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Gly683= Multiple submitters ataxia-telangiectasia-like disorder
  • p.His283= Multiple submitters hereditary neoplastic syndrome
  • p.His397= Multiple submitters hereditary neoplastic syndrome
  • p.His401= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Ile164= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Ile251= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Ile396= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Ile621= Multiple submitters hereditary neoplastic syndrome
  • p.Ile674= Multiple submitters hereditary neoplastic syndrome
  • p.Leu138= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Leu141= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Leu144= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Leu189= Multiple submitters hereditary neoplastic syndrome
  • p.Leu234= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Leu362= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Leu446= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Leu478= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Leu493= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Leu76= Multiple submitters hereditary neoplastic syndrome
  • p.Leu94= Multiple submitters hereditary neoplastic syndrome
  • p.Lys293= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Lys384= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Lys416= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Lys464= Multiple submitters hereditary neoplastic syndrome
  • p.Lys66= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Lys661= Multiple submitters hereditary neoplastic syndrome
  • p.Phe101= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Phe237= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Phe308= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Phe414= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Phe437= Multiple submitters hereditary neoplastic syndrome
  • p.Phe461= Multiple submitters hereditary neoplastic syndrome
  • p.Phe504= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Phe54= Multiple submitters hereditary neoplastic syndrome
  • p.Pro107= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Pro121= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Pro132= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Pro166= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Pro230= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Pro318= Multiple submitters hereditary neoplastic syndrome
  • p.Pro392= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Ser158= Multiple submitters hereditary neoplastic syndrome
  • p.Ser165= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Ser173= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Ser2= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Ser264= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Ser268= Multiple submitters hereditary neoplastic syndrome
  • p.Ser269= Multiple submitters
  • p.Ser275= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Ser334= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Ser377= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Ser538= Multiple submitters hereditary breast ovarian cancer syndrome
  • p.Ser558= Multiple submitters hereditary neoplastic syndrome
  • p.Ser681= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Ser688= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Ser98= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Thr133= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Thr199= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Thr303= Multiple submitters hereditary neoplastic syndrome
  • p.Thr36= Multiple submitters hereditary neoplastic syndrome
  • p.Thr39= Multiple submitters hereditary neoplastic syndrome
  • p.Thr419= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Thr450= Multiple submitters hereditary neoplastic syndrome
  • p.Thr610= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Thr669= Multiple submitters hereditary neoplastic syndrome
  • p.Thr700= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Thr74= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Tyr369= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr436= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Tyr640= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Tyr82= Multiple submitters hereditary neoplastic syndrome
  • p.Val215= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Val280= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Val304= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Val363= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Val389= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Val433= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Val458= Multiple submitters hereditary neoplastic syndrome
  • p.Val501= Multiple submitters hereditary neoplastic syndrome
  • p.Val89= Multiple submitters hereditary neoplastic syndrome
  • c.1017+11T>C Single submitter ataxia-telangiectasia-like disorder
  • c.1017+16A>T Single submitter ataxia-telangiectasia-like disorder
  • c.1017+18A>C Single submitter ataxia-telangiectasia-like disorder
  • c.1018-12A>G Single submitter ataxia-telangiectasia-like disorder
  • c.1018-17T>C Single submitter ataxia-telangiectasia-like disorder
  • c.1018-18C>G Single submitter ataxia-telangiectasia-like disorder
  • c.1018-19T>A Single submitter ataxia-telangiectasia-like disorder
  • c.1018-5T>C Single submitter ataxia-telangiectasia-like disorder
  • c.1098+15T>C Single submitter ataxia-telangiectasia-like disorder
  • c.1098+16A>G Single submitter ataxia-telangiectasia-like disorder
  • c.1098+17T>G Single submitter ataxia-telangiectasia-like disorder
  • c.1098+18A>G Single submitter ataxia-telangiectasia-like disorder
  • c.1098+215G>T Single submitter
  • c.1098+40A>G Single submitter hereditary breast ovarian cancer syndrome
  • c.1098+7C>T Single submitter ataxia-telangiectasia-like disorder
  • c.1099-118_1099-115del Single submitter
  • c.1099-11T>C Single submitter ataxia-telangiectasia-like disorder
  • c.1099-13T>A Single submitter ataxia-telangiectasia-like disorder
  • c.1099-18A>T Single submitter ataxia-telangiectasia-like disorder
  • c.1099-20A>G Single submitter ataxia-telangiectasia-like disorder
  • c.1099-4del Single submitter ataxia-telangiectasia-like disorder
  • c.1099-8_1099-7del Single submitter ataxia-telangiectasia-like disorder
  • c.1099-9T>C Single submitter ataxia-telangiectasia-like disorder
  • c.1225+124_1225+137dup Single submitter
  • c.1225+13T>C Single submitter ataxia-telangiectasia-like disorder
  • c.1225+224G>A Single submitter
  • c.1225+333T>C Single submitter
  • c.1225+8A>T Single submitter ataxia-telangiectasia-like disorder
  • c.1225+9G>A Single submitter ataxia-telangiectasia-like disorder
  • c.1225+9G>C Single submitter ataxia-telangiectasia-like disorder
  • c.1226-12_1226-10del Single submitter ataxia-telangiectasia-like disorder
  • c.1226-12C>G Single submitter ataxia-telangiectasia-like disorder
  • c.1226-12del Single submitter ataxia-telangiectasia-like disorder
  • c.1226-15C>T Single submitter ataxia-telangiectasia-like disorder
  • c.1226-17T>A Single submitter ataxia-telangiectasia-like disorder
  • c.1226-17T>C Single submitter ataxia-telangiectasia-like disorder
  • c.1226-18A>T Single submitter ataxia-telangiectasia-like disorder
  • c.1226-4C>G Single submitter hereditary neoplastic syndrome
  • c.1226-4C>T Single submitter hereditary neoplastic syndrome
  • c.1226-53A>G Single submitter
  • c.1226-6T>C Single submitter ataxia-telangiectasia-like disorder
  • c.1226-6T>G Single submitter ataxia-telangiectasia-like disorder
  • c.1326+10dup Single submitter ataxia-telangiectasia-like disorder
  • c.1326+10T>C Single submitter ataxia-telangiectasia-like disorder
  • c.1326+12C>G Single submitter ataxia-telangiectasia-like disorder
  • c.1326+12C>T Single submitter ataxia-telangiectasia-like disorder
  • c.1327-11G>A Single submitter ataxia-telangiectasia-like disorder
  • c.1327-13T>C Single submitter ataxia-telangiectasia-like disorder
  • c.1327-5T>C Single submitter ataxia-telangiectasia-like disorder
  • c.1327-7C>A Single submitter ataxia-telangiectasia-like disorder
  • c.1327-7C>T Single submitter ataxia-telangiectasia-like disorder
  • c.1327-9A>G Single submitter ataxia-telangiectasia-like disorder
  • c.1327-9A>T Single submitter ataxia-telangiectasia-like disorder
  • c.1500+10T>G Single submitter ataxia-telangiectasia-like disorder
  • c.1500+17A>G Single submitter ataxia-telangiectasia-like disorder
  • c.1500+20G>A Single submitter ataxia-telangiectasia-like disorder
  • c.1501-11T>C Single submitter ataxia-telangiectasia-like disorder
  • c.1501-15T>C Single submitter ataxia-telangiectasia-like disorder
  • c.1501-16C>T Single submitter ataxia-telangiectasia-like disorder
  • c.1501-17A>G Single submitter ataxia-telangiectasia-like disorder
  • c.1501-219G>A Single submitter
  • c.1501-3T>C Single submitter hereditary neoplastic syndrome
  • c.1501-9A>G Single submitter ataxia-telangiectasia-like disorder
  • c.153+10G>T Single submitter ataxia-telangiectasia-like disorder
  • c.153+12T>C Single submitter ataxia-telangiectasia-like disorder
  • c.153+18T>A Single submitter ataxia-telangiectasia-like disorder
  • c.153+20G>C Single submitter ataxia-telangiectasia-like disorder
  • c.154-16T>G Single submitter ataxia-telangiectasia-like disorder
  • c.154-17C>A Single submitter ataxia-telangiectasia-like disorder
  • c.154-19_154-18del Single submitter ataxia-telangiectasia-like disorder
  • c.154-20C>T Single submitter ataxia-telangiectasia-like disorder
  • c.154-33A>G Single submitter hereditary breast ovarian cancer syndrome
  • c.154-84_154-82dup Single submitter
  • c.1563+10C>T Single submitter ataxia-telangiectasia-like disorder
  • c.1563+18A>G Single submitter ataxia-telangiectasia-like disorder
  • c.1563+233A>G Single submitter
  • c.1563+7A>T Single submitter ataxia-telangiectasia-like disorder
  • c.1564-10T>C Single submitter ataxia-telangiectasia-like disorder
  • c.1564-12_1564-10del Single submitter ataxia-telangiectasia-like disorder
  • c.1564-20C>G Single submitter ataxia-telangiectasia-like disorder
  • c.1564-251_1564-249dup Single submitter
  • c.1564-7C>G Single submitter ataxia-telangiectasia-like disorder
  • c.1564-7C>T Single submitter ataxia-telangiectasia-like disorder
  • c.1564-8C>T Single submitter ataxia-telangiectasia-like disorder
  • c.1783+17G>A Single submitter ataxia-telangiectasia-like disorder
  • c.1783+19C>A Single submitter ataxia-telangiectasia-like disorder
  • c.1783+19C>T Single submitter ataxia-telangiectasia-like disorder
  • c.1783+8C>A Single submitter ataxia-telangiectasia-like disorder
  • c.1783+8C>G Single submitter ataxia-telangiectasia-like disorder
  • c.1784-13A>T Single submitter ataxia-telangiectasia-like disorder
  • c.1784-17G>C Single submitter ataxia-telangiectasia-like disorder
  • c.1784-17G>T Single submitter ataxia-telangiectasia-like disorder
  • c.1784-19C>T Single submitter ataxia-telangiectasia-like disorder
  • c.1784-20_1784-17del Single submitter ataxia-telangiectasia-like disorder
  • c.1784-6T>C Single submitter ataxia-telangiectasia-like disorder
  • c.1867+10G>A Single submitter ataxia-telangiectasia-like disorder
  • c.1867+11A>G Single submitter ataxia-telangiectasia-like disorder
  • c.1867+17A>T Single submitter ataxia-telangiectasia-like disorder
  • c.1867+18G>A Single submitter ataxia-telangiectasia-like disorder
  • c.1867+241T>C Single submitter
  • c.1867+7A>G Single submitter ataxia-telangiectasia-like disorder
  • c.1868-11T>C Single submitter ataxia-telangiectasia-like disorder
  • c.1868-12T>G Single submitter ataxia-telangiectasia-like disorder
  • c.1868-4C>G Single submitter ataxia-telangiectasia-like disorder
  • c.1868-7A>G Single submitter ataxia-telangiectasia-like disorder
  • c.1868-7del Single submitter
  • c.1868-9del Single submitter ataxia-telangiectasia-like disorder
  • c.1926+11A>C Single submitter ataxia-telangiectasia-like disorder
  • c.1926+14T>C Single submitter ataxia-telangiectasia-like disorder
  • c.1926+18A>G Single submitter ataxia-telangiectasia-like disorder
  • c.1926+195A>G Single submitter
  • c.1927-13G>T Single submitter ataxia-telangiectasia-like disorder
  • c.1927-14dup Single submitter ataxia-telangiectasia-like disorder
  • c.1927-16_1927-15insA Single submitter ataxia-telangiectasia-like disorder
  • c.1927-16T>A Single submitter ataxia-telangiectasia-like disorder
  • c.1927-17C>T Single submitter ataxia-telangiectasia-like disorder
  • c.1927-18G>A Single submitter ataxia-telangiectasia-like disorder
  • c.1927-22_1927-19del Single submitter ataxia-telangiectasia-like disorder
  • c.1927-8del Single submitter ataxia-telangiectasia-like disorder
  • c.1994+15T>C Single submitter ataxia-telangiectasia-like disorder
  • c.1994+17T>A Single submitter ataxia-telangiectasia-like disorder
  • c.1994+20G>C Single submitter ataxia-telangiectasia-like disorder
  • c.1994+26G>T Single submitter hereditary breast ovarian cancer syndrome
  • c.1994+43T>C Single submitter hereditary breast ovarian cancer syndrome
  • c.1994+7G>A Single submitter ataxia-telangiectasia-like disorder
  • c.1994+7G>T Single submitter ataxia-telangiectasia-like disorder
  • c.1994+8C>T Single submitter
  • c.1994+9A>C Single submitter ataxia-telangiectasia-like disorder
  • c.1994+9A>G Single submitter ataxia-telangiectasia-like disorder
  • c.1995-19_1995-8del Single submitter ataxia-telangiectasia-like disorder
  • c.1995-25TGTTTT[2] Single submitter ataxia-telangiectasia-like disorder
  • c.1995-25TGTTTT[4] Single submitter ataxia-telangiectasia-like disorder
  • c.1995-6C>T Single submitter ataxia-telangiectasia-like disorder
  • c.1995-7G>A Single submitter ataxia-telangiectasia-like disorder
  • c.20+11G>A Single submitter ataxia-telangiectasia-like disorder
  • c.20+12A>G Single submitter ataxia-telangiectasia-like disorder

Uncertain significance 1309

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

  • c.1226_1228delGAG Multiple submitters ataxia-telangiectasia-like disorder
  • c.1326+4A>G Multiple submitters ataxia-telangiectasia-like disorder
  • c.1926+4A>C Multiple submitters hereditary neoplastic syndrome
  • c.1994+3A>C Multiple submitters ataxia-telangiectasia-like disorder
  • c.2070+5del Multiple submitters ataxia-telangiectasia-like disorder
  • c.314+6T>C Multiple submitters ataxia-telangiectasia-like disorder
  • c.544+5G>T Multiple submitters hereditary neoplastic syndrome
  • c.545-13A>G Multiple submitters ataxia-telangiectasia-like disorder 1
  • c.845+4A>C Multiple submitters ataxia-telangiectasia-like disorder
  • p.Ala177Val Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Ala18del Multiple submitters ataxia-telangiectasia-like disorder
  • p.Ala18Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala279Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala390Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala440Ser Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Ala440Thr Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Ala457Thr Multiple submitters ataxia-telangiectasia-like disorder 1 ⚠
  • p.Ala47Val Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Ala492Val Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Ala528Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala537Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala542Val Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Ala585Thr Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Ala595Pro Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Ala6Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg155Cys Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Arg155His Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Arg155Leu Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Arg188Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg188Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg191Gln Multiple submitters hereditary breast ovarian cancer syndrome ⚠
  • p.Arg202Gly Multiple submitters ⚠
  • p.Arg288Cys Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Arg305Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg305Trp Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Arg349Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg349Trp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg351Cys Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Arg364Gln Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Arg364Gly Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Arg364Leu Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Arg366Gln Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Arg380Cys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg380His Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Arg380Ser Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Arg388Gln Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Arg388Pro Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Arg388Trp Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Arg400Ser Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Arg402Gly Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Arg402Thr Multiple submitters ataxia-telangiectasia-like disorder
  • p.Arg483Gln Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Arg488Gly Multiple submitters ataxia-telangiectasia-like disorder
  • p.Arg488His Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Arg502His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg503Cys Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Arg503His Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Arg520Cys Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Arg520His Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Arg520Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg525Lys Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Arg530Lys Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Arg572Gln Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Arg576Gly Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Arg577Gly Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Arg577Ser Multiple submitters hereditary neoplastic syndrome
  • p.Arg592Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg594Lys Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Arg604Cys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg616Ile Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg628Lys Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Arg633Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg705Gly Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Arg80Ile Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Arg87Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg87Trp Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Asn100Ser Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Asn100Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn115Asp Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Asn115Ser Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Asn11Lys Multiple submitters hereditary neoplastic syndrome
  • p.Asn11Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn212Asp Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Asn227Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn227Lys Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Asn256Asp Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Asn295Ser Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Asn391Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn413Ser Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Asn50Thr Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Asn567Asp Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Asn639Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn699Ser Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Asp113Asn Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp130Gly Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Asp131Asn Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Asp131His Multiple submitters MRE11-related disorder ⚠
  • p.Asp131Tyr Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Asp163Ala Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Asp20Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp236Ala Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp236Gly Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Asp239Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp239His Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Asp239Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp311Gly Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Asp311Tyr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp324Gly Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Asp35Asn Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Asp394His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp41Glu Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Asp41His Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Asp431Val Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Asp468Val Multiple submitters ataxia-telangiectasia-like disorder
  • p.Asp498Asn Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp516His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp516Val Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Asp517Ala Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp517Glu Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Asp544Glu Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Asp557Asn Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp559Gly Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Asp647Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp650His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp654Tyr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp685Gly Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Asp685Tyr Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Asp691Asn Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Asp692His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp694Asn Multiple submitters ataxia-telangiectasia-like disorder 1 ⚠
  • p.Asp695dup Multiple submitters ataxia-telangiectasia-like disorder
  • p.Asp86Asn Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Asp8Asn Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Cys249dup Multiple submitters hereditary neoplastic syndrome
  • p.Cys336Ser Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Cys75Tyr Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Cys83Arg Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Cys83Tyr Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Gln170Arg Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Gln170Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln218Arg Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Gln258Arg Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Gln258Pro Multiple submitters ataxia-telangiectasia-like disorder
  • p.Gln259Glu Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Gln438Glu Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Gln445Arg Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Gln445His Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Gln509Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln532His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln553Glu Multiple submitters hereditary breast ovarian cancer syndrome ⚠
  • p.Gln582Arg Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Gln630Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln679Glu Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Gln679Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu10Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu207Gly Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Glu231Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu338Gln Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Glu341Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu342Lys Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Glu345Gly Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Glu403Lys Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Glu423Ala Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Glu456Lys Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Glu460Gly Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Glu499Gly Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Glu499Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu500Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu500Val Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Glu506Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu515Asp Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Glu51Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu521= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Glu64Lys Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Glu77Asp Multiple submitters ataxia-telangiectasia-like disorder
  • p.Glu77Lys Multiple submitters ataxia-telangiectasia-like disorder 1
  • p.Glu77Val Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Glu92Lys Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Gly102Ala Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Gly182Arg Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Gly224Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly33Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly353Asp Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Gly415Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly424Arg Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Gly569Arg Multiple submitters ataxia-telangiectasia-like disorder 1
  • p.Gly573Arg Multiple submitters hereditary neoplastic syndrome
  • p.Gly573Glu Multiple submitters ataxia-telangiectasia-like disorder
  • p.Gly573Val Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Gly575Asp Multiple submitters ataxia-telangiectasia-like disorder
  • p.Gly575Val Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Gly578Cys Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Gly579_Gly581del Multiple submitters ataxia-telangiectasia-like disorder
  • p.Gly579Arg Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Gly579Glu Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Gly581Arg Multiple submitters ataxia-telangiectasia-like disorder
  • p.Gly588Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly588Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly589Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly58Asp Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Gly58Ser Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Gly598Arg Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Gly598Cys Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Gly683Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly85Ser Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.His126Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.His152Pro Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.His152Tyr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.His223Leu Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.His22Tyr Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.His245Gln Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.His245Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.His247Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.His247Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.His283Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.His297Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.His297Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.His302Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.His397Pro Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.His401Arg Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.His401Asp Multiple submitters ataxia-telangiectasia-like disorder 1 ⚠
  • p.His401Tyr Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.His489Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.His73Arg Multiple submitters ataxia-telangiectasia-like disorder
  • p.His73Tyr Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Ile120Val Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Ile143Ser Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Ile143Val Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Ile15Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile162Leu Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Ile162Thr Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Ile21Thr Multiple submitters ataxia-telangiectasia-like disorder
  • p.Ile238Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile263Asn Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Ile263Met Multiple submitters ataxia-telangiectasia-like disorder
  • p.Ile263Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile299Phe Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Ile320Leu Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Ile320Val Multiple submitters ataxia-telangiectasia-like disorder 1 ⚠
  • p.Ile396Thr Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Ile412Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile418Asn Multiple submitters ataxia-telangiectasia-like disorder 1 ⚠
  • p.Ile418Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile470Thr Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Ile470Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile548Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile620Val Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Ile621Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile655Val Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Ile674Asn Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu116Phe Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Leu144Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu234Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu240Val Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Leu274Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu286Phe Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Leu287Pro Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Leu362Val Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Leu427Phe Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Leu427Ser Multiple submitters ataxia-telangiectasia-like disorder
  • p.Leu473Ser Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Leu493Arg Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Leu545Pro Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Leu61Val Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Leu703_Asn706delinsPhe Multiple submitters ataxia-telangiectasia-like disorder
  • p.Leu7Val Multiple submitters hereditary neoplastic syndrome
  • p.Lys105Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Lys161Arg Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Lys175Arg Multiple submitters ataxia-telangiectasia-like disorder 1 ⚠
  • p.Lys175Asn Multiple submitters ataxia-telangiectasia-like disorder
  • p.Lys175Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Lys196Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Lys196Gln Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Lys196Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Lys204Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Lys255Glu Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Lys28Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Lys290Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Lys327= Multiple submitters ataxia-telangiectasia-like disorder
  • p.Lys384Ile Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Lys407Gln Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Lys442= Multiple submitters ataxia-telangiectasia-like disorder 1
  • p.Lys442Glu Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Lys486Asn Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Lys486Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Lys625Asn Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Lys638Met Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Lys70Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Met157Thr Multiple submitters ataxia-telangiectasia-like disorder 1 ⚠
  • p.Met192Ile Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Met200Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Met294Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Met294Val Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Met309Val Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Met454Val Multiple submitters ataxia-telangiectasia-like disorder
  • p.Met523Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Met546Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Met618Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Met618Thr Multiple submitters ataxia-telangiectasia-like disorder ⚠
  • p.Met618Val Multiple submitters ataxia-telangiectasia-like disorder ⚠