ALK — 5803 ClinVar variants

All ClinVar germline ALK variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 3228 flagged for review →

10 Pathogenic · 5 Likely pathogenic · 357 Conflicting · 138 Benign · 64 Benign/Likely benign · 1764 Likely benign · 3465 Uncertain significance

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

⚑ Evidence disagreements 3228

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 1

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

ALK p.Lys134Asn Likely pathogenic Single submitter
ovarian cancer

Predictors agree, ClinVar conflicts 184

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification. · showing the 150 best-reviewed of 184

ALK p.Ala1396Thr Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Ala1459Ser Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Ala1564Thr Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Ala1596Thr Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Ala1601Thr Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Ala29Thr Conflicting Single submitter
neuroblastoma, susceptibility to, 3
ALK p.Ala309Glu Conflicting Single submitter
neuroblastoma, susceptibility to, 3
ALK p.Ala309Thr Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Ala309Val Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Ala348Thr Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Ala372Thr Conflicting Single submitter
neuroblastoma, susceptibility to, 3
ALK p.Ala3Thr Conflicting Single submitter
neuroblastoma, susceptibility to, 3
ALK p.Ala421Val Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Ala436Thr Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Ala528Thr Conflicting Single submitter
familial isolated pituitary adenoma
ALK p.Ala585Thr Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Ala586Thr Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Ala586Val Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Ala613Thr Conflicting Single submitter
ovarian cancer
ALK p.Arg1113Gln Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Arg1436His Conflicting Single submitter
neuroblastoma, susceptibility to, 3
ALK p.Arg1530Lys Conflicting Single submitter
neuroblastoma, susceptibility to, 3
ALK p.Arg1549Gly Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Arg1549Ile Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Arg179His Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Arg179Leu Conflicting Single submitter
neuroblastoma, susceptibility to, 3
ALK p.Arg203Lys Conflicting Single submitter
neuroblastoma, susceptibility to, 3
ALK p.Arg261Gln Conflicting Single submitter
ALK-related disorder
ALK p.Arg284Gly Conflicting Single submitter
neuroblastoma, susceptibility to, 3
ALK p.Arg28Gly Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Arg292Leu Conflicting Single submitter
neuroblastoma, susceptibility to, 3
ALK p.Arg311His Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Arg311Ser Conflicting Single submitter
neuroblastoma, susceptibility to, 3
ALK p.Arg412His Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Arg472Gly Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Arg510Gln Conflicting Single submitter
neuroblastoma, susceptibility to, 3
ALK p.Arg557His Conflicting Single submitter
neuroblastoma, susceptibility to, 3
ALK p.Arg672Ser Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Arg69Gln Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Arg806His Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Asn1532Asp Conflicting Single submitter
neuroblastoma, susceptibility to, 3
ALK p.Asn1544Lys Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Asn1565Ser Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Asn1583Ser Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Asn627Asp Conflicting Single submitter
neuroblastoma, susceptibility to, 3
ALK p.Asn661Lys Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Asp1091Asn Conflicting Single submitter
neuroblastoma, susceptibility to, 3
ALK p.Asp302His Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Asp397Asn Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Asp397Val Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Asp516Gly Conflicting Single submitter
neuroblastoma, susceptibility to, 3
ALK p.Asp602Asn Conflicting Single submitter
neuroblastoma, susceptibility to, 3
ALK p.Asp70Asn Conflicting Single submitter
neuroblastoma, susceptibility to, 3
ALK p.Asp732Asn Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Asp854Asn Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Gln180His Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Gln27Arg Conflicting Single submitter
neuroblastoma, susceptibility to, 3
ALK p.Gln356Arg Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Gln459Arg Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Gln459Glu Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Gln500His Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Gln610Arg Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Gln673Pro Conflicting Single submitter
neuroblastoma, susceptibility to, 3
ALK p.Glu1433Gly Conflicting Single submitter
neuroblastoma, susceptibility to, 3
ALK p.Glu1435Lys Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Glu1536Gly Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Glu1568Ala Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Glu1594Lys Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Glu273Asp Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Glu275Asp Conflicting Single submitter
neuroblastoma, susceptibility to, 3
ALK p.Glu310Asp Conflicting Single submitter
neuroblastoma, susceptibility to, 3
ALK p.Glu314Gly Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Glu427Lys Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Glu949Lys Conflicting Single submitter
neuroblastoma, susceptibility to, 3
ALK p.Gly1054Ser Conflicting Single submitter
familial isolated pituitary adenoma
ALK p.Gly1121Asp Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Gly113Ser Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Gly129Val Conflicting Single submitter
ALK-related disorder
ALK p.Gly1602Ser Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Gly199Cys Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Gly20Ser Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Gly221Arg Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Gly26Ser Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Gly308Arg Conflicting Single submitter
neuroblastoma, susceptibility to, 3
ALK p.Gly574Arg Conflicting Single submitter
diffuse midline glioma, H3 K27-altered
ALK p.Gly589Asp Conflicting Single submitter
neuroblastoma, susceptibility to, 3
ALK p.Gly5Arg Conflicting Single submitter
neuroblastoma, susceptibility to, 3
ALK p.Gly640Arg Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Gly667Arg Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Gly747Arg Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.His1030Pro Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.His1528Gln Conflicting Single submitter
ovarian cancer
ALK p.His1603Tyr Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.His281Gln Conflicting Single submitter
neuroblastoma, susceptibility to, 3
ALK p.His344Asn Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.His354Asp Conflicting Single submitter
neuroblastoma, susceptibility to, 3
ALK p.His354Gln Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.His514Gln Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.His517Arg Conflicting Single submitter
familial isolated pituitary adenoma
ALK p.His583Asn Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.His755Asn Conflicting Single submitter
neuroblastoma, susceptibility to, 3
ALK p.His904Gln Conflicting Single submitter
neuroblastoma, susceptibility to, 3
ALK p.Ile150Val Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Ile1522Met Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Ile219Val Conflicting Single submitter
neuroblastoma, susceptibility to, 3
ALK p.Ile362Val Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Ile407Leu Conflicting Single submitter
neuroblastoma, susceptibility to, 3
ALK p.Ile622Thr Conflicting Single submitter
neuroblastoma, susceptibility to, 3
ALK p.Ile644Val Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Ile762Val Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Ile839Val Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Leu1404Pro Conflicting Single submitter
neuroblastoma, susceptibility to, 3
ALK p.Leu1404Val Conflicting Single submitter
neuroblastoma, susceptibility to, 3
ALK p.Leu1609Pro Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Lys1079Thr Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Lys1491Gln Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Lys1498Arg Conflicting Single submitter
ovarian cancer
ALK p.Lys1514Asn Conflicting Single submitter
neuroblastoma, susceptibility to, 3
ALK p.Lys330Arg Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Met1138Ile Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Met1478Thr Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Met1615Ile Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Met233Ile Conflicting Single submitter
neuroblastoma, susceptibility to, 3
ALK p.Met378Ile Conflicting Single submitter
neuroblastoma, susceptibility to, 3
ALK p.Met596Thr Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Met611Ile Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Met830Leu Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Phe220Leu Conflicting Single submitter
neuroblastoma, susceptibility to, 3
ALK p.Phe921Leu Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Pro104Ser Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Pro104Thr Conflicting Single submitter
neuroblastoma, susceptibility to, 3
ALK p.Pro117Arg Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Pro11Leu Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Pro1398Leu Conflicting Single submitter
neuroblastoma, susceptibility to, 3
ALK p.Pro1456Leu Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Pro1469Ser Conflicting Single submitter
neuroblastoma, susceptibility to, 3
ALK p.Pro157Ser Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Pro1599Ser Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Pro1618Ser Conflicting Single submitter
neuroblastoma, susceptibility to, 3
ALK p.Pro254Ser Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Pro278Leu Conflicting Single submitter
neuroblastoma, susceptibility to, 3
ALK p.Pro294Leu Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Pro307Ser Conflicting Single submitter
ALK-related disorder
ALK p.Pro32Leu Conflicting Single submitter
neuroblastoma, susceptibility to, 3
ALK p.Pro357Thr Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Pro36Gln Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Pro36Leu Conflicting Single submitter
neuroblastoma, susceptibility to, 3
ALK p.Pro37Leu Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Pro40Ser Conflicting Single submitter
hereditary neoplastic syndrome
ALK p.Pro671Leu Conflicting Single submitter
hereditary neoplastic syndrome

Predictors lean, ClinVar uncertain 1999

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 1999

ALK p.Ala1043Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala1047Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala1051Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala105Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala105Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala105Thr Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Ala105Val Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Ala1126Pro Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Ala1126Thr Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Ala112Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala116Asp Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Ala118Pro Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Ala1230Thr Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Ala1234Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala1274Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala1280Glu Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Ala1280Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala1289Val Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Ala138Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala138Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala1396Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala1430Ser Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Ala1440Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala1440Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala1440Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala1453Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala1458Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala1459Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala149Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala149Val Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Ala1523Val Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Ala1546Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala1553Gly Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Ala1553Ser Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Ala1553Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala1595Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala1596Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala161Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala18Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala18Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala195Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala195Thr Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Ala298Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala29Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala327Asp Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Ala33Ser Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Ala371Asp Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Ala371Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala436Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala454Thr Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Ala454Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala462Ser Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Ala509Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala537Val Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Ala586Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala613Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala704Thr Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Ala730Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala782Thr Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Ala815Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala82Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala841Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala848Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala876Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala87Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala943Pro Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Ala969Gly Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Ala96Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg100Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg1060Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg1084Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg1084His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg1113Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg1120Trp Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Arg1192Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg1192Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg1192Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg1209Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg1209Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg1212Cys Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Arg1212His Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Arg1212Pro Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Arg1212Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg121Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg1248Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg1248Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg1264Ile Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Arg1264Lys Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Arg1279Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg1347Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg1347Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg1360Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg136Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg136Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg1373Gly Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Arg1373Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg1373Ser Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Arg1414Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg1414Met Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Arg1432Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg1432Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg1436Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg1464Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg1464Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg1467Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg1496Gly Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Arg1496Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg1530Ser Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Arg1575Cys Uncertain significance Multiple submitters
ALK-related disorder
ALK p.Arg1575Gly Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Arg1575His Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Arg188Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg188Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg203Ser Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Arg259Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg261Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg284Lys Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Arg353Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg360Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg401Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg412Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg41Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg504Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg510Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg557Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg557Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg561Thr Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Arg579Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg620Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg65Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg806Ser Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Arg860Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Asn1140Ser Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Asn1484Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Asn1484Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Asn1532Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Asn1581Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Asn1581Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Asn1613Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Asn1613Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Asn232Ser Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Asn232Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Asn369Lys Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Asn398Ser Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Asn424Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Asn627Ser Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Asn647Thr Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Asn659Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Asn659Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Asn669Ser Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3

Predictors split 1044

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 1044

ALK p.Ala1015Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala1015Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala1046Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala1068Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala1099Thr Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Ala1200Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala1222Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala138Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala1479Val Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Ala161Val Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Ala18Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala206Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala207Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala298Gly Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Ala298Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala348Asp Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Ala34Val Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Ala416Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala416Val Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Ala454Gly Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Ala55Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala613Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala624Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala68Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala68Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala690Ser Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Ala690Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala699Val Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Ala704Ser Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Ala782Val Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Ala824Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala848Val Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Ala877Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala877Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala892Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala900Thr Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Ala909Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala942Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Ala942Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg1061Trp Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Arg1120Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg1181Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg1181His Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Arg1214Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg1214His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg121Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg133Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg1360Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg137Cys Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Arg137His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg137Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg1432Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg1436Cys Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Arg1573Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg1575Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg179Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg184Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg186Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg186Lys Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Arg186Ser Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Arg188His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg209Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg209Gly Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Arg214Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg214His Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Arg284Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg28Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg291Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg311Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg360Ser Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Arg373Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg373Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg395Ser Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Arg412Cys Benign/Likely benign Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg41Trp Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Arg472Trp Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Arg48Pro Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Arg48Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg51Gly Uncertain significance Multiple submitters
ALK p.Arg579Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg579Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg65Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg69Trp Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Arg753Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg753Gly Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Arg753Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Arg88Cys Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Arg918Ser Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Arg918Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Asn1175Ser Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Asn1353Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Asn1477Ser Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Asn1583Ile Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Asn244Thr Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Asn244Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Asn481Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Asn571Lys Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Asn709Lys Benign/Likely benign Multiple submitters
hereditary neoplastic syndrome
ALK p.Asn787Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Asn871Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Asn886Ile Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Asn941His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Asn941Lys Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Asn946Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Asp1225Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Asp1372His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Asp1417Tyr Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Asp269Gly Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Asp269Val Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Asp460Asn Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Asp460Gly Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Asp508Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Asp768Asn Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Asp769Asn Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Asp769Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Asp769Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Asp832Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Asp832His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Asp94Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Asp998Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Cys1235Tyr Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Cys1259Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Cys345Ser Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Cys95Tyr Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Gln1070His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Gln1134Leu Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Gln1388His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Gln218Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Gln698Arg Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Gln908His Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Glu1000Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Glu1132Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Glu1210Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Glu1371Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Glu1400Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Glu1406Gly Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Glu1407Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Glu1407Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Glu1408Gly Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Glu1408Lys Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Glu1409Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Glu1409Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Glu147Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Glu172Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Glu182Lys Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3
ALK p.Glu265Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Glu275Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Glu314Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Glu465Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
ALK p.Glu549Lys Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 3

All ALK variants

Pathogenic 10

p.Arg1275Gln Multiple submitters hereditary neoplastic syndrome
p.Arg1192Pro Single submitter neuroblastoma, susceptibility to, 3
p.Ile1171Thr No assertion criteria neuroblastoma
p.Phe1174Ile No assertion criteria neuroblastoma, susceptibility to, 3
p.Phe1174Leu No assertion criteria neuroblastoma, susceptibility to, 3
p.Phe1174Val No assertion criteria neuroblastoma, susceptibility to, 3
p.Phe1245Cys No assertion criteria neuroblastoma, susceptibility to, 3
p.Phe1245Ile No assertion criteria neuroblastoma, susceptibility to, 3
p.Phe1245Leu No assertion criteria neuroblastoma, susceptibility to, 3
p.Tyr1278Ser No assertion criteria neuroblastoma, susceptibility to, 3

Likely pathogenic 5

p.Lys134Asn Single submitter ovarian cancer ⚠
p.Phe1174Cys Single submitter ALK-related disorder
p.Leu1196Met No assertion criteria lung cancer
p.Leu1240Val No assertion criteria neuroblastoma, susceptibility to, 3
p.Val1180Leu No assertion criteria lung cancer

Conflicting classifications of pathogenicity 357

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

c.1154+1G>A Single submitter hereditary neoplastic syndrome
c.1283-5T>C Single submitter neuroblastoma, susceptibility to, 3
c.1547-5C>T Single submitter neuroblastoma, susceptibility to, 3
c.1912+1G>A Single submitter neuroblastoma, susceptibility to, 3
c.2204+4C>T Single submitter hereditary neoplastic syndrome
c.2488-5G>A Single submitter neuroblastoma, susceptibility to, 3
c.2633-3C>T Single submitter hereditary neoplastic syndrome
c.2633-5C>G Single submitter neuroblastoma, susceptibility to, 3
c.2633-5C>T Single submitter hereditary neoplastic syndrome
c.2816-5C>T Single submitter hereditary neoplastic syndrome
c.3067+9G>T Single submitter neuroblastoma, susceptibility to, 3
c.3359+1G>T Single submitter hereditary neoplastic syndrome
c.3360-5C>A Single submitter hereditary neoplastic syndrome
c.3450_3450+1delinsTT Single submitter hereditary neoplastic syndrome
c.3646-13T>C Single submitter neuroblastoma, susceptibility to, 3
c.3646-5C>T Single submitter hereditary neoplastic syndrome
c.3743+1G>C Single submitter neuroblastoma, susceptibility to, 3
c.3744-5C>T Single submitter hereditary neoplastic syndrome
c.3939-5C>T Single submitter hereditary neoplastic syndrome
c.3939-9C>T Single submitter neuroblastoma, susceptibility to, 3
c.4074-13CTT[2] Single submitter neuroblastoma, susceptibility to, 3
c.4074-5T>C Single submitter hereditary neoplastic syndrome
c.4165-5G>T Single submitter neuroblastoma, susceptibility to, 3
c.788-5T>C Single submitter neuroblastoma, susceptibility to, 3
c.-415T>C Single submitter neuroblastoma, susceptibility to, 3
p.Ala1200Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala1396Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala1459Ser Single submitter hereditary neoplastic syndrome ⚠
p.Ala1564Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala1596Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala1601Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala161Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala17Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala206Thr Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Ala210= Single submitter hereditary neoplastic syndrome
p.Ala210Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala298Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala29Thr Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Ala309Glu Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Ala309Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala309Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala348Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala372Thr Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Ala3Thr Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Ala416Ser Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Ala421Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala436Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala462= Single submitter hereditary neoplastic syndrome
p.Ala518Ser Single submitter hereditary neoplastic syndrome ⚠
p.Ala528Thr Single submitter familial isolated pituitary adenoma ⚠
p.Ala585Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala586Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala586Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala613Thr Single submitter ovarian cancer ⚠
p.Ala909= Single submitter hereditary neoplastic syndrome
p.Arg1060His Single submitter hereditary neoplastic syndrome ⚠
p.Arg1061Gln Single submitter hereditary neoplastic syndrome ⚠
p.Arg1113Gln Single submitter hereditary neoplastic syndrome ⚠
p.Arg1120= Single submitter neuroblastoma, susceptibility to, 3
p.Arg121Gln Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Arg1231Gln Single submitter hereditary neoplastic syndrome ⚠
p.Arg1231Trp Single submitter hereditary neoplastic syndrome ⚠
p.Arg1248Ter Single submitter hereditary neoplastic syndrome
p.Arg133Cys Single submitter hereditary neoplastic syndrome ⚠
p.Arg133His Single submitter hereditary neoplastic syndrome ⚠
p.Arg137Gly Single submitter hereditary neoplastic syndrome ⚠
p.Arg1436His Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Arg1530Lys Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Arg1549Gly Single submitter hereditary neoplastic syndrome ⚠
p.Arg1549Ile Single submitter hereditary neoplastic syndrome ⚠
p.Arg179His Single submitter hereditary neoplastic syndrome ⚠
p.Arg179Leu Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Arg203Lys Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Arg259Cys Single submitter hereditary neoplastic syndrome ⚠
p.Arg259Pro Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Arg261Gln Single submitter ALK-related disorder ⚠
p.Arg261Ter Single submitter ALK-related disorder
p.Arg284Gly Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Arg28Gly Single submitter hereditary neoplastic syndrome ⚠
p.Arg291His Single submitter hereditary neoplastic syndrome ⚠
p.Arg292Cys Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Arg292Gly Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Arg292His Single submitter hereditary neoplastic syndrome ⚠
p.Arg292Leu Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Arg311His Single submitter hereditary neoplastic syndrome ⚠
p.Arg311Ser Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Arg395Cys Single submitter hereditary neoplastic syndrome ⚠
p.Arg395His Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Arg41= Single submitter hereditary neoplastic syndrome
p.Arg412His Single submitter hereditary neoplastic syndrome ⚠
p.Arg472Gly Single submitter hereditary neoplastic syndrome ⚠
p.Arg510Gln Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Arg510Trp Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Arg551Gln Single submitter hereditary neoplastic syndrome ⚠
p.Arg551Ter Single submitter neuroblastoma, susceptibility to, 3
p.Arg557Cys Single submitter hereditary neoplastic syndrome ⚠
p.Arg557His Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Arg65fs Single submitter hereditary neoplastic syndrome
p.Arg672Ser Single submitter hereditary neoplastic syndrome ⚠
p.Arg69Gln Single submitter hereditary neoplastic syndrome ⚠
p.Arg806Cys Single submitter ALK-related disorder ⚠
p.Arg806His Single submitter hereditary neoplastic syndrome ⚠
p.Asn1532Asp Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Asn1544Lys Single submitter hereditary neoplastic syndrome ⚠
p.Asn1565Ser Single submitter hereditary neoplastic syndrome ⚠
p.Asn1583Ser Single submitter hereditary neoplastic syndrome ⚠
p.Asn169= Single submitter neuroblastoma, susceptibility to, 3
p.Asn169Ser Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Asn324Asp Single submitter hereditary neoplastic syndrome ⚠
p.Asn481Tyr Single submitter hereditary neoplastic syndrome ⚠
p.Asn563Lys Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Asn627Asp Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Asn661Lys Single submitter hereditary neoplastic syndrome ⚠
p.Asn941Ser Single submitter ALK-related disorder ⚠
p.Asp1091Asn Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Asp1529Val Single submitter neuroblastoma, susceptibility to, 3
p.Asp302His Single submitter hereditary neoplastic syndrome ⚠
p.Asp397Asn Single submitter hereditary neoplastic syndrome ⚠
p.Asp397Val Single submitter hereditary neoplastic syndrome ⚠
p.Asp516Gly Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Asp602Asn Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Asp70Asn Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Asp732Asn Single submitter hereditary neoplastic syndrome ⚠
p.Asp768= Single submitter hereditary neoplastic syndrome
p.Asp854Asn Single submitter hereditary neoplastic syndrome ⚠
p.Asp993= Single submitter hereditary neoplastic syndrome
p.Cys471= Single submitter neuroblastoma, susceptibility to, 3
p.Cys480Ter Single submitter hereditary neoplastic syndrome
p.Cys928fs Single submitter hereditary neoplastic syndrome
p.Cys987= Single submitter neuroblastoma, susceptibility to, 3
p.Gln1070= Single submitter hereditary neoplastic syndrome
p.Gln1238fs Single submitter hereditary neoplastic syndrome
p.Gln1388= Single submitter hereditary neoplastic syndrome
p.Gln180His Single submitter hereditary neoplastic syndrome ⚠
p.Gln27Arg Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Gln356Arg Single submitter hereditary neoplastic syndrome ⚠
p.Gln459Arg Single submitter hereditary neoplastic syndrome ⚠
p.Gln459Glu Single submitter hereditary neoplastic syndrome ⚠
p.Gln500His Single submitter hereditary neoplastic syndrome ⚠
p.Gln610Arg Single submitter hereditary neoplastic syndrome ⚠
p.Gln673Pro Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Gln698Ter Single submitter hereditary neoplastic syndrome
p.Glu1132Ter Single submitter hereditary neoplastic syndrome
p.Glu1433Gly Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Glu1435Lys Single submitter hereditary neoplastic syndrome ⚠
p.Glu1536= Single submitter hereditary neoplastic syndrome
p.Glu1536Gly Single submitter hereditary neoplastic syndrome ⚠
p.Glu1568Ala Single submitter hereditary neoplastic syndrome ⚠
p.Glu1594Lys Single submitter hereditary neoplastic syndrome ⚠
p.Glu273Asp Single submitter hereditary neoplastic syndrome ⚠
p.Glu275Asp Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Glu310Asp Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Glu314Gly Single submitter hereditary neoplastic syndrome ⚠
p.Glu370Lys Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Glu427Lys Single submitter hereditary neoplastic syndrome ⚠
p.Glu483Gln Single submitter hereditary neoplastic syndrome ⚠
p.Glu576Ter Single submitter hereditary neoplastic syndrome
p.Glu717Lys Single submitter hereditary neoplastic syndrome ⚠
p.Glu797= Single submitter neuroblastoma, susceptibility to, 3
p.Glu859Asp Single submitter hereditary neoplastic syndrome ⚠
p.Glu916= Single submitter hereditary neoplastic syndrome
p.Glu949Lys Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Gly1054Ser Single submitter familial isolated pituitary adenoma ⚠
p.Gly1121Asp Single submitter hereditary neoplastic syndrome ⚠
p.Gly113Ser Single submitter hereditary neoplastic syndrome ⚠
p.Gly1261= Single submitter neuroblastoma, susceptibility to, 3
p.Gly129Val Single submitter ALK-related disorder ⚠
p.Gly159fs Single submitter hereditary neoplastic syndrome
p.Gly1602Ser Single submitter hereditary neoplastic syndrome ⚠
p.Gly199Cys Single submitter hereditary neoplastic syndrome ⚠
p.Gly20Ser Single submitter hereditary neoplastic syndrome ⚠
p.Gly221Arg Single submitter hereditary neoplastic syndrome ⚠
p.Gly26Ser Single submitter hereditary neoplastic syndrome ⚠
p.Gly308Arg Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Gly385= Single submitter hereditary neoplastic syndrome
p.Gly410Glu Single submitter hereditary neoplastic syndrome ⚠
p.Gly562fs Single submitter neuroblastoma, susceptibility to, 3
p.Gly574Arg Single submitter diffuse midline glioma, H3 K27-altered ⚠
p.Gly578= Single submitter hereditary neoplastic syndrome
p.Gly589Asp Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Gly5Arg Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Gly640Arg Single submitter hereditary neoplastic syndrome ⚠
p.Gly667Arg Single submitter hereditary neoplastic syndrome ⚠
p.Gly747Arg Single submitter hereditary neoplastic syndrome ⚠
p.Gly822fs Single submitter hereditary neoplastic syndrome
p.Gly833Ter Single submitter neuroblastoma, susceptibility to, 3
p.Gly875Arg Single submitter hereditary neoplastic syndrome ⚠
p.Gly923= Single submitter neuroblastoma, susceptibility to, 3
p.Gly934= Single submitter hereditary neoplastic syndrome
p.His1030Pro Single submitter hereditary neoplastic syndrome ⚠
p.His1528Gln Single submitter ovarian cancer ⚠
p.His1603= Single submitter neuroblastoma, susceptibility to, 3
p.His1603Tyr Single submitter hereditary neoplastic syndrome ⚠
p.His281Gln Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.His344= Single submitter neuroblastoma, susceptibility to, 3
p.His344Asn Single submitter hereditary neoplastic syndrome ⚠
p.His354Asp Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.His354Gln Single submitter hereditary neoplastic syndrome ⚠
p.His514Gln Single submitter hereditary neoplastic syndrome ⚠
p.His517Arg Single submitter familial isolated pituitary adenoma ⚠
p.His583Asn Single submitter hereditary neoplastic syndrome ⚠
p.His755Asn Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.His904Gln Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Ile150Val Single submitter hereditary neoplastic syndrome ⚠
p.Ile1522Met Single submitter hereditary neoplastic syndrome ⚠
p.Ile219Val Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Ile362Val Single submitter hereditary neoplastic syndrome ⚠
p.Ile407Leu Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Ile543fs Single submitter hereditary neoplastic syndrome
p.Ile622Thr Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Ile644Val Single submitter hereditary neoplastic syndrome ⚠
p.Ile676= Single submitter neuroblastoma, susceptibility to, 3
p.Ile676fs Single submitter neuroblastoma, susceptibility to, 3
p.Ile762Val Single submitter hereditary neoplastic syndrome ⚠
p.Ile839Val Single submitter hereditary neoplastic syndrome ⚠
p.Leu1190fs Single submitter hereditary neoplastic syndrome
p.Leu1257fs Single submitter hereditary neoplastic syndrome
p.Leu12Pro Single submitter hereditary neoplastic syndrome ⚠
p.Leu13= Single submitter neuroblastoma, susceptibility to, 3
p.Leu1404Pro Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Leu1404Val Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Leu1425= Single submitter hereditary neoplastic syndrome
p.Leu1609Pro Single submitter hereditary neoplastic syndrome ⚠
p.Leu170= Single submitter neuroblastoma, susceptibility to, 3
p.Leu216fs Single submitter neuroblastoma, susceptibility to, 3
p.Leu274= Single submitter hereditary neoplastic syndrome
p.Leu347Met Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Leu366= Single submitter hereditary neoplastic syndrome
p.Leu437= Single submitter neuroblastoma, susceptibility to, 3
p.Leu521Phe Single submitter hereditary neoplastic syndrome ⚠
p.Leu550Phe Single submitter hereditary neoplastic syndrome ⚠
p.Leu838fs Single submitter hereditary neoplastic syndrome
p.Leu970= Single submitter hereditary neoplastic syndrome
p.Lys1062= Single submitter hereditary neoplastic syndrome
p.Lys1079Thr Single submitter hereditary neoplastic syndrome ⚠
p.Lys139Glu Single submitter hereditary neoplastic syndrome ⚠
p.Lys1491Gln Single submitter hereditary neoplastic syndrome ⚠
p.Lys1498Arg Single submitter ovarian cancer ⚠
p.Lys1514Asn Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Lys1525del Single submitter hereditary neoplastic syndrome
p.Lys330Arg Single submitter hereditary neoplastic syndrome ⚠
p.Lys383Met Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Lys575Asn Single submitter hereditary neoplastic syndrome ⚠
p.Lys912= Single submitter neuroblastoma, susceptibility to, 3
p.Met1138Ile Single submitter hereditary neoplastic syndrome ⚠
p.Met1478Thr Single submitter hereditary neoplastic syndrome ⚠
p.Met1615Ile Single submitter hereditary neoplastic syndrome ⚠
p.Met233Ile Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Met378Ile Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Met596Thr Single submitter hereditary neoplastic syndrome ⚠
p.Met611Ile Single submitter hereditary neoplastic syndrome ⚠
p.Met830Leu Single submitter hereditary neoplastic syndrome ⚠
p.Phe220= Single submitter hereditary neoplastic syndrome
p.Phe220Leu Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Phe270Leu Single submitter hereditary neoplastic syndrome ⚠
p.Phe921Leu Single submitter hereditary neoplastic syndrome ⚠
p.Phe958= Single submitter hereditary neoplastic syndrome
p.Pro1027Leu Single submitter hereditary neoplastic syndrome ⚠
p.Pro104Ser Single submitter hereditary neoplastic syndrome ⚠
p.Pro104Thr Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Pro117Arg Single submitter hereditary neoplastic syndrome ⚠
p.Pro11Leu Single submitter hereditary neoplastic syndrome ⚠
p.Pro1215= Single submitter neuroblastoma, susceptibility to, 3
p.Pro1398Leu Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Pro1456Leu Single submitter hereditary neoplastic syndrome ⚠
p.Pro1469Ser Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Pro157Leu Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Pro157Ser Single submitter hereditary neoplastic syndrome ⚠
p.Pro158Thr Single submitter hereditary neoplastic syndrome ⚠
p.Pro1599His Single submitter hereditary neoplastic syndrome ⚠
p.Pro1599Ser Single submitter hereditary neoplastic syndrome ⚠
p.Pro1618Ser Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Pro254Ser Single submitter hereditary neoplastic syndrome ⚠
p.Pro278Leu Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Pro294Leu Single submitter hereditary neoplastic syndrome ⚠
p.Pro307Ser Single submitter ALK-related disorder ⚠
p.Pro32Leu Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Pro357Thr Single submitter hereditary neoplastic syndrome ⚠
p.Pro367Arg Single submitter hereditary neoplastic syndrome ⚠
p.Pro36Gln Single submitter hereditary neoplastic syndrome ⚠
p.Pro36Leu Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Pro37Leu Single submitter hereditary neoplastic syndrome ⚠
p.Pro40Ser Single submitter hereditary neoplastic syndrome ⚠
p.Pro496= Single submitter hereditary neoplastic syndrome
p.Pro671Leu Single submitter hereditary neoplastic syndrome ⚠
p.Pro671Thr Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Pro835Ser Single submitter hereditary neoplastic syndrome ⚠
p.Pro85Leu Single submitter hereditary neoplastic syndrome ⚠
p.Pro97= Single submitter hereditary neoplastic syndrome
p.Ser1038fs Single submitter hereditary neoplastic syndrome
p.Ser1086Leu Single submitter hereditary neoplastic syndrome ⚠
p.Ser1136Ala Single submitter hereditary neoplastic syndrome ⚠
p.Ser1219Phe Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Ser1281Asn Single submitter hereditary neoplastic syndrome ⚠
p.Ser1448= Single submitter hereditary neoplastic syndrome
p.Ser1448Phe Single submitter ovarian cancer ⚠
p.Ser1487Pro Single submitter hereditary neoplastic syndrome ⚠
p.Ser1501Asn Single submitter neuroblastoma, susceptibility to, 3 ⚠
p.Ser205= Single submitter hereditary neoplastic syndrome
p.Ser237Pro Single submitter hereditary neoplastic syndrome ⚠

Benign 138

c.1154+60A>G Multiple submitters
c.1155-20_1155-19del Multiple submitters neuroblastoma, susceptibility to, 3
c.1155-8508A>G Multiple submitters neuroblastoma, susceptibility to, 3
c.1155-99C>T Multiple submitters
c.1282+121G>A Multiple submitters
c.1283-47T>A Multiple submitters
c.1283-49C>T Multiple submitters
c.1414+55C>T Multiple submitters
c.1647+178A>G Multiple submitters
c.1647+66G>A Multiple submitters
c.1817+123G>A Multiple submitters
c.1817+132G>A Multiple submitters
c.1912+58T>C Multiple submitters
c.2355+26C>T Multiple submitters
c.2487+46C>T Multiple submitters
c.2487+47A>G Multiple submitters
c.2633-54G>A Multiple submitters
c.2915-9T>C Multiple submitters hereditary neoplastic syndrome
c.3359+24G>C Multiple submitters squamous cell lung carcinoma
c.3359+6C>T Multiple submitters neuroblastoma, susceptibility to, 3
c.3359+80T>C Multiple submitters
c.3515+53C>G Multiple submitters
c.3515+97G>A Multiple submitters
c.3744-32A>G Multiple submitters
c.3836+27G>T Multiple submitters
c.3938+149C>T Multiple submitters
c.4073+93G>A Multiple submitters
c.4164+45C>A Multiple submitters
c.4165-112C>A Multiple submitters
c.4165-158A>G Multiple submitters
c.4165-6C>T Multiple submitters neuroblastoma, susceptibility to, 3
c.668-257G>A Multiple submitters
c.788-193A>G Multiple submitters
c.788-60G>C Multiple submitters
c.*111C>T Multiple submitters neuroblastoma, susceptibility to, 3
c.*298C>T Multiple submitters neuroblastoma, susceptibility to, 3
c.*53G>C Multiple submitters neuroblastoma, susceptibility to, 3
p.Asn1532= Multiple submitters neuroblastoma, susceptibility to, 3
p.Asp1529Glu Multiple submitters hereditary neoplastic syndrome
p.Gln500= Multiple submitters hereditary neoplastic syndrome
p.Gly1125= Multiple submitters hereditary neoplastic syndrome
p.Gly89= Multiple submitters hereditary neoplastic syndrome
p.Leu9= Multiple submitters hereditary neoplastic syndrome
p.Lys1491Arg Multiple submitters hereditary neoplastic syndrome
p.Pro671Ser Multiple submitters hereditary neoplastic syndrome
p.Ser1136= Multiple submitters hereditary neoplastic syndrome
p.Ser711= Multiple submitters hereditary neoplastic syndrome
p.Thr1012= Multiple submitters hereditary neoplastic syndrome
p.Thr1446= Multiple submitters hereditary neoplastic syndrome
p.Tyr1401= Multiple submitters hereditary neoplastic syndrome
p.Val476Ala Multiple submitters hereditary neoplastic syndrome
c.1155-8502A>C Single submitter
c.1155-8694G>T Single submitter
c.1155-8708C>A Single submitter
c.1155-8718A>C Single submitter
c.1282+164G>A Single submitter
c.1282+296T>G Single submitter
c.1283-146C>G Single submitter
c.1546+103G>A Single submitter
c.1547-166del Single submitter
c.1647+336C>T Single submitter
c.1648-162C>T Single submitter
c.1817+148AC[11] Single submitter
c.1817+148AC[12] Single submitter
c.1817+279G>T Single submitter
c.1912+19del Single submitter neuroblastoma, susceptibility to, 3
c.2041+15C>T Single submitter neuroblastoma, susceptibility to, 3
c.2204+120C>A Single submitter
c.2204+15G>C Single submitter neuroblastoma, susceptibility to, 3
c.2204+212A>G Single submitter
c.2355+141T>C Single submitter
c.2355+20del Single submitter neuroblastoma, susceptibility to, 3
c.2355+248A>T Single submitter
c.2355+275C>T Single submitter
c.2355+276C>T Single submitter
c.2356-11dup Single submitter neuroblastoma, susceptibility to, 3
c.2356-16C>T Single submitter neuroblastoma, susceptibility to, 3
c.2356-304_2356-303insC Single submitter
c.2356-320A>G Single submitter
c.2487+251A>T Single submitter
c.2632+154G>A Single submitter
c.2632+16C>T Single submitter neuroblastoma, susceptibility to, 3
c.2632+268_2632+269insTGGGTTTTACCAACT Single submitter
c.2633-306G>C Single submitter
c.2815+239G>C Single submitter
c.2815+74_2815+75insGCCCC Single submitter
c.2816-146C>T Single submitter
c.2914+140_2914+149del Single submitter
c.3067+17del Single submitter neuroblastoma, susceptibility to, 3
c.3067+262G>A Single submitter
c.3067+514C>A Single submitter
c.3067+89C>G Single submitter
c.3068-20del Single submitter neuroblastoma, susceptibility to, 3
c.3068-241G>T Single submitter
c.3068-329G>A Single submitter
c.3068-504C>T Single submitter
c.3172+347G>A Single submitter
c.3172+549T>C Single submitter
c.3172+678C>T Single submitter
c.3172+722A>G Single submitter
c.3173-147T>A Single submitter
c.3173-307A>G Single submitter
c.3173-662del Single submitter
c.3173-791C>A Single submitter
c.3359+17C>T Single submitter neuroblastoma, susceptibility to, 3
c.3359+226C>G Single submitter
c.3451-13dup Single submitter neuroblastoma, susceptibility to, 3
c.3516-48C>A Single submitter
c.3645+16T>A Single submitter neuroblastoma, susceptibility to, 3
c.3645+188G>A Single submitter
c.3645+199C>T Single submitter
c.3646-235A>G Single submitter
c.3743+217C>A Single submitter
c.3744-238G>A Single submitter
c.3836+234_3836+243del Single submitter
c.3836+242_3836+243del Single submitter
c.3836+243del Single submitter
c.3836+248C>T Single submitter
c.3837-293A>G Single submitter
c.3837-327T>C Single submitter
c.3837-8dup Single submitter neuroblastoma, susceptibility to, 3
c.3938+295_3938+296insAA Single submitter
c.4073+112del Single submitter
c.4164+163T>C Single submitter
c.4164+198A>G Single submitter
c.4164+223A>G Single submitter
c.4165-237C>G Single submitter
c.4165-89_4165-88del Single submitter
c.952+192C>A Single submitter
c.-539G>A Single submitter neuroblastoma, susceptibility to, 3
c.*45G>A Single submitter neuroblastoma, susceptibility to, 3
c.*61_*64dup Single submitter
p.Glu1028_His1030del Single submitter hereditary neoplastic syndrome
p.Glu1028fs Single submitter hereditary neoplastic syndrome
p.His1030del Single submitter hereditary neoplastic syndrome
p.Phe921fs Single submitter hereditary neoplastic syndrome
p.Pro236Arg Single submitter ovarian cancer
p.Ser1483Pro Single submitter ovarian cancer

Benign/Likely benign 64

c.1154+4A>T Multiple submitters neuroblastoma, susceptibility to, 3
c.1648-10G>A Multiple submitters hereditary neoplastic syndrome
c.1817+11T>C Multiple submitters neuroblastoma, susceptibility to, 3
c.2632+11dup Multiple submitters neuroblastoma, susceptibility to, 3
c.2632+8G>A Multiple submitters neuroblastoma, susceptibility to, 3
c.2633-4G>A Multiple submitters hereditary neoplastic syndrome
c.3173-11C>T Multiple submitters hereditary neoplastic syndrome
c.3515+18C>T Multiple submitters neuroblastoma, susceptibility to, 3
c.3837-9_3837-7dup Multiple submitters familial isolated pituitary adenoma
c.3939-8A>G Multiple submitters neuroblastoma, susceptibility to, 3
c.952+16C>T Multiple submitters neuroblastoma, susceptibility to, 3
c.-5G>A Multiple submitters neuroblastoma, susceptibility to, 3
c.*63A>G Multiple submitters neuroblastoma, susceptibility to, 3
p.Ala1047Thr Multiple submitters hereditary neoplastic syndrome
p.Ala1200= Multiple submitters hereditary neoplastic syndrome
p.Ala371Thr Multiple submitters hereditary neoplastic syndrome
p.Ala892= Multiple submitters hereditary neoplastic syndrome
p.Arg259His Multiple submitters hereditary neoplastic syndrome
p.Arg412Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn369= Multiple submitters hereditary neoplastic syndrome
p.Asn563= Multiple submitters hereditary neoplastic syndrome
p.Asn703= Multiple submitters neuroblastoma, susceptibility to, 3
p.Asn709Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn871= Multiple submitters neuroblastoma, susceptibility to, 3
p.Asp282= Multiple submitters hereditary neoplastic syndrome
p.Asp769= Multiple submitters hereditary neoplastic syndrome
p.Asp781= Multiple submitters hereditary neoplastic syndrome
p.Cys1097= Multiple submitters hereditary neoplastic syndrome
p.Glu1419Lys Multiple submitters hereditary neoplastic syndrome
p.Glu1435del Multiple submitters hereditary neoplastic syndrome
p.Glu296Lys Multiple submitters hereditary neoplastic syndrome
p.Glu370= Multiple submitters hereditary neoplastic syndrome
p.Glu405Asp Multiple submitters hereditary neoplastic syndrome
p.Gly1494Arg Multiple submitters hereditary neoplastic syndrome
p.Gly199= Multiple submitters hereditary neoplastic syndrome
p.Gly488= Multiple submitters hereditary neoplastic syndrome
p.Gly756= Multiple submitters hereditary neoplastic syndrome
p.Gly817= Multiple submitters hereditary neoplastic syndrome
p.Gly924= Multiple submitters hereditary neoplastic syndrome
p.His1010= Multiple submitters hereditary neoplastic syndrome
p.His1475= Multiple submitters hereditary neoplastic syndrome
p.His755= Multiple submitters hereditary neoplastic syndrome
p.His976= Multiple submitters neuroblastoma, susceptibility to, 3
p.Leu1198= Multiple submitters hereditary neoplastic syndrome
p.Leu215= Multiple submitters hereditary neoplastic syndrome
p.Lys1285= Multiple submitters hereditary neoplastic syndrome
p.Lys1491= Multiple submitters hereditary neoplastic syndrome
p.Lys1525Glu Multiple submitters hereditary neoplastic syndrome
p.Lys1612= Multiple submitters hereditary neoplastic syndrome
p.Pro1469= Multiple submitters hereditary neoplastic syndrome
p.Pro36Ser Multiple submitters hereditary neoplastic syndrome
p.Pro542= Multiple submitters neuroblastoma, susceptibility to, 3
p.Ser426Thr Multiple submitters hereditary neoplastic syndrome
p.Ser716= Multiple submitters hereditary neoplastic syndrome
p.Ser737Leu Multiple submitters hereditary neoplastic syndrome
p.Ser810= Multiple submitters neuroblastoma, susceptibility to, 3
p.Thr1012Met Multiple submitters hereditary neoplastic syndrome
p.Thr573= Multiple submitters hereditary neoplastic syndrome
p.Thr648Ile Multiple submitters hereditary neoplastic syndrome
p.Thr680Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Tyr826= Multiple submitters neuroblastoma, susceptibility to, 3
p.Val1019= Multiple submitters neuroblastoma, susceptibility to, 3
p.Val163Leu Multiple submitters hereditary neoplastic syndrome
p.Val198Met Multiple submitters hereditary neoplastic syndrome

Likely benign 1764

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

c.1155-4C>T Multiple submitters neuroblastoma, susceptibility to, 3
c.1414+62C>T Multiple submitters
c.1415-4A>G Multiple submitters neuroblastoma, susceptibility to, 3
c.1415-5C>T Multiple submitters neuroblastoma, susceptibility to, 3
c.1547-29G>A Multiple submitters
c.1647+95T>A Multiple submitters
c.1818-206G>A Multiple submitters
c.2041+110T>A Multiple submitters
c.2042-35C>T Multiple submitters
c.2488-165A>G Multiple submitters
c.2632+17G>A Multiple submitters neuroblastoma, susceptibility to, 3
c.2633-83G>A Multiple submitters
c.2816-4T>A Multiple submitters hereditary neoplastic syndrome
c.2816-7T>C Multiple submitters neuroblastoma, susceptibility to, 3
c.2816-9G>A Multiple submitters neuroblastoma, susceptibility to, 3
c.2914+67A>T Multiple submitters
c.2915-4C>T Multiple submitters neuroblastoma, susceptibility to, 3
c.3359+7G>A Multiple submitters neuroblastoma, susceptibility to, 3
c.3516-25G>C Multiple submitters
c.3516-4G>A Multiple submitters hereditary neoplastic syndrome
c.3646-4A>C Multiple submitters hereditary neoplastic syndrome
c.4165-11C>T Multiple submitters neuroblastoma, susceptibility to, 3
c.667+119C>T Multiple submitters
c.667+99C>T Multiple submitters
c.953-21G>A Multiple submitters
c.953-4C>T Multiple submitters hereditary neoplastic syndrome
c.-156G>T Multiple submitters neuroblastoma, susceptibility to, 3
c.-273G>C Multiple submitters neuroblastoma, susceptibility to, 3
p.Ala1047= Multiple submitters hereditary neoplastic syndrome
p.Ala105= Multiple submitters hereditary neoplastic syndrome
p.Ala112= Multiple submitters neuroblastoma, susceptibility to, 3
p.Ala116= Multiple submitters hereditary neoplastic syndrome
p.Ala1168= Multiple submitters hereditary neoplastic syndrome
p.Ala1222= Multiple submitters neuroblastoma, susceptibility to, 3
p.Ala1274= Multiple submitters hereditary neoplastic syndrome
p.Ala1280= Multiple submitters hereditary neoplastic syndrome
p.Ala138= Multiple submitters neuroblastoma, susceptibility to, 3
p.Ala1439= Multiple submitters neuroblastoma, susceptibility to, 3
p.Ala1470= Multiple submitters hereditary neoplastic syndrome
p.Ala1479= Multiple submitters hereditary neoplastic syndrome
p.Ala149= Multiple submitters hereditary neoplastic syndrome
p.Ala1546= Multiple submitters hereditary neoplastic syndrome
p.Ala1553= Multiple submitters neuroblastoma, susceptibility to, 3
p.Ala1564= Multiple submitters hereditary neoplastic syndrome
p.Ala1595= Multiple submitters hereditary neoplastic syndrome
p.Ala1598Val Multiple submitters neuroblastoma, susceptibility to, 3
p.Ala161= Multiple submitters neuroblastoma, susceptibility to, 3
p.Ala206= Multiple submitters hereditary neoplastic syndrome
p.Ala29= Multiple submitters hereditary neoplastic syndrome
p.Ala298= Multiple submitters hereditary neoplastic syndrome
p.Ala3= Multiple submitters neuroblastoma, susceptibility to, 3
p.Ala34= Multiple submitters hereditary neoplastic syndrome
p.Ala348= Multiple submitters hereditary neoplastic syndrome
p.Ala372= Multiple submitters hereditary neoplastic syndrome
p.Ala403= Multiple submitters neuroblastoma, susceptibility to, 3
p.Ala416= Multiple submitters hereditary neoplastic syndrome
p.Ala518= Multiple submitters hereditary neoplastic syndrome
p.Ala528= Multiple submitters neuroblastoma, susceptibility to, 3
p.Ala541= Multiple submitters hereditary neoplastic syndrome
p.Ala613= Multiple submitters hereditary neoplastic syndrome
p.Ala621= Multiple submitters neuroblastoma, susceptibility to, 3
p.Ala68= Multiple submitters neuroblastoma, susceptibility to, 3
p.Ala730= Multiple submitters hereditary neoplastic syndrome
p.Ala741= Multiple submitters hereditary neoplastic syndrome
p.Ala742= Multiple submitters hereditary neoplastic syndrome
p.Ala815= Multiple submitters neuroblastoma, susceptibility to, 3
p.Ala82= Multiple submitters neuroblastoma, susceptibility to, 3
p.Ala87= Multiple submitters hereditary neoplastic syndrome
p.Ala876= Multiple submitters neuroblastoma, susceptibility to, 3
p.Ala943= Multiple submitters neuroblastoma, susceptibility to, 3
p.Ala96= Multiple submitters neuroblastoma, susceptibility to, 3
p.Arg121= Multiple submitters hereditary neoplastic syndrome
p.Arg1214= Multiple submitters hereditary neoplastic syndrome
p.Arg136= Multiple submitters hereditary neoplastic syndrome
p.Arg137= Multiple submitters hereditary neoplastic syndrome
p.Arg1382= Multiple submitters hereditary neoplastic syndrome
p.Arg1414= Multiple submitters hereditary neoplastic syndrome
p.Arg1467= Multiple submitters hereditary neoplastic syndrome
p.Arg1496= Multiple submitters hereditary neoplastic syndrome
p.Arg1530= Multiple submitters hereditary neoplastic syndrome
p.Arg1549= Multiple submitters hereditary neoplastic syndrome
p.Arg179= Multiple submitters hereditary neoplastic syndrome
p.Arg184= Multiple submitters hereditary neoplastic syndrome
p.Arg209= Multiple submitters hereditary neoplastic syndrome
p.Arg261= Multiple submitters hereditary neoplastic syndrome
p.Arg353= Multiple submitters hereditary neoplastic syndrome
p.Arg412= Multiple submitters neuroblastoma, susceptibility to, 3
p.Arg472= Multiple submitters hereditary neoplastic syndrome
p.Arg510= Multiple submitters neuroblastoma, susceptibility to, 3
p.Arg579= Multiple submitters hereditary neoplastic syndrome
p.Arg69= Multiple submitters hereditary neoplastic syndrome
p.Arg806= Multiple submitters hereditary neoplastic syndrome
p.Arg88= Multiple submitters hereditary neoplastic syndrome
p.Asn1093= Multiple submitters hereditary neoplastic syndrome
p.Asn1115= Multiple submitters neuroblastoma, susceptibility to, 3
p.Asn1140= Multiple submitters hereditary neoplastic syndrome
p.Asn1254= Multiple submitters hereditary neoplastic syndrome
p.Asn1335= Multiple submitters hereditary neoplastic syndrome
p.Asn1375= Multiple submitters neuroblastoma, susceptibility to, 3
p.Asn1504= Multiple submitters hereditary neoplastic syndrome
p.Asn1519= Multiple submitters neuroblastoma, susceptibility to, 3
p.Asn1544= Multiple submitters hereditary neoplastic syndrome
p.Asn1565= Multiple submitters neuroblastoma, susceptibility to, 3
p.Asn1581= Multiple submitters hereditary neoplastic syndrome
p.Asn1583= Multiple submitters hereditary neoplastic syndrome
p.Asn1616= Multiple submitters hereditary neoplastic syndrome
p.Asn398= Multiple submitters hereditary neoplastic syndrome
p.Asn424= Multiple submitters hereditary neoplastic syndrome
p.Asn445= Multiple submitters hereditary neoplastic syndrome
p.Asn571= Multiple submitters hereditary neoplastic syndrome
p.Asn647= Multiple submitters hereditary neoplastic syndrome
p.Asn661= Multiple submitters hereditary neoplastic syndrome
p.Asn749= Multiple submitters hereditary neoplastic syndrome
p.Asn787= Multiple submitters hereditary neoplastic syndrome
p.Asn808= Multiple submitters hereditary neoplastic syndrome
p.Asn886= Multiple submitters neuroblastoma, susceptibility to, 3
p.Asn986= Multiple submitters hereditary neoplastic syndrome
p.Asp1009= Multiple submitters neuroblastoma, susceptibility to, 3
p.Asp1107= Multiple submitters hereditary neoplastic syndrome
p.Asp1160= Multiple submitters neuroblastoma, susceptibility to, 3
p.Asp1270= Multiple submitters hereditary neoplastic syndrome
p.Asp1276= Multiple submitters hereditary neoplastic syndrome
p.Asp1311= Multiple submitters hereditary neoplastic syndrome
p.Asp1372= Multiple submitters hereditary neoplastic syndrome
p.Asp1389= Multiple submitters neuroblastoma, susceptibility to, 3
p.Asp328= Multiple submitters neuroblastoma, susceptibility to, 3
p.Asp418= Multiple submitters neuroblastoma, susceptibility to, 3
p.Asp484= Multiple submitters neuroblastoma, susceptibility to, 3
p.Asp57= Multiple submitters hereditary neoplastic syndrome
p.Asp633= Multiple submitters hereditary neoplastic syndrome
p.Asp70= Multiple submitters neuroblastoma, susceptibility to, 3
p.Asp732= Multiple submitters hereditary neoplastic syndrome
p.Asp951= Multiple submitters hereditary neoplastic syndrome
p.Asp954= Multiple submitters hereditary neoplastic syndrome
p.Asp998= Multiple submitters hereditary neoplastic syndrome
p.Cys1006= Multiple submitters hereditary neoplastic syndrome
p.Cys1021= Multiple submitters neuroblastoma, susceptibility to, 3
p.Cys1259= Multiple submitters hereditary neoplastic syndrome
p.Cys154= Multiple submitters hereditary neoplastic syndrome
p.Cys1579= Multiple submitters hereditary neoplastic syndrome
p.Cys272= Multiple submitters hereditary neoplastic syndrome
p.Cys345= Multiple submitters hereditary neoplastic syndrome
p.Cys634= Multiple submitters hereditary neoplastic syndrome
p.Cys688= Multiple submitters hereditary neoplastic syndrome
p.Cys906= Multiple submitters neuroblastoma, susceptibility to, 3
p.Cys928= Multiple submitters neuroblastoma, susceptibility to, 3
p.Cys95= Multiple submitters hereditary neoplastic syndrome
p.Gln1064= Multiple submitters hereditary neoplastic syndrome
p.Gln1217= Multiple submitters neuroblastoma, susceptibility to, 3
p.Gln1238= Multiple submitters hereditary neoplastic syndrome
p.Gln1367= Multiple submitters hereditary neoplastic syndrome
p.Gln167= Multiple submitters hereditary neoplastic syndrome
p.Gln286= Multiple submitters hereditary neoplastic syndrome
p.Gln356= Multiple submitters neuroblastoma, susceptibility to, 3
p.Gln39= Multiple submitters neuroblastoma, susceptibility to, 3
p.Gln450= Multiple submitters neuroblastoma, susceptibility to, 3
p.Gln469= Multiple submitters neuroblastoma, susceptibility to, 3
p.Gln594= Multiple submitters hereditary neoplastic syndrome
p.Gln617= Multiple submitters hereditary neoplastic syndrome
p.Gln698= Multiple submitters hereditary neoplastic syndrome
p.Gln700= Multiple submitters hereditary neoplastic syndrome
p.Gln724= Multiple submitters hereditary neoplastic syndrome
p.Gln778= Multiple submitters neuroblastoma, susceptibility to, 3
p.Glu1000= Multiple submitters hereditary neoplastic syndrome
p.Glu1065= Multiple submitters hereditary neoplastic syndrome
p.Glu1077= Multiple submitters neuroblastoma, susceptibility to, 3
p.Glu1110= Multiple submitters hereditary neoplastic syndrome
p.Glu1197= Multiple submitters neuroblastoma, susceptibility to, 3
p.Glu1210= Multiple submitters hereditary neoplastic syndrome
p.Glu1337= Multiple submitters neuroblastoma, susceptibility to, 3
p.Glu1340= Multiple submitters hereditary neoplastic syndrome
p.Glu1381= Multiple submitters hereditary neoplastic syndrome
p.Glu1407= Multiple submitters hereditary neoplastic syndrome
p.Glu1409= Multiple submitters neuroblastoma, susceptibility to, 3
p.Glu1419= Multiple submitters hereditary neoplastic syndrome
p.Glu144= Multiple submitters hereditary neoplastic syndrome
p.Glu1558= Multiple submitters hereditary neoplastic syndrome
p.Glu1605= Multiple submitters neuroblastoma, susceptibility to, 3
p.Glu201= Multiple submitters hereditary neoplastic syndrome
p.Glu228= Multiple submitters hereditary neoplastic syndrome
p.Glu273= Multiple submitters hereditary neoplastic syndrome
p.Glu275= Multiple submitters hereditary neoplastic syndrome
p.Glu296= Multiple submitters hereditary neoplastic syndrome
p.Glu310= Multiple submitters hereditary neoplastic syndrome
p.Glu343= Multiple submitters neuroblastoma, susceptibility to, 3
p.Glu374= Multiple submitters hereditary neoplastic syndrome
p.Glu42= Multiple submitters hereditary neoplastic syndrome
p.Glu465= Multiple submitters neuroblastoma, susceptibility to, 3
p.Glu570= Multiple submitters hereditary neoplastic syndrome
p.Glu663= Multiple submitters hereditary neoplastic syndrome
p.Glu802= Multiple submitters hereditary neoplastic syndrome
p.Glu813= Multiple submitters hereditary neoplastic syndrome
p.Glu859= Multiple submitters hereditary neoplastic syndrome
p.Glu862= Multiple submitters hereditary neoplastic syndrome
p.Glu949= Multiple submitters hereditary neoplastic syndrome
p.Glu991= Multiple submitters hereditary neoplastic syndrome
p.Gly103= Multiple submitters neuroblastoma, susceptibility to, 3
p.Gly1054= Multiple submitters hereditary neoplastic syndrome
p.Gly107= Multiple submitters hereditary neoplastic syndrome
p.Gly1121= Multiple submitters hereditary neoplastic syndrome
p.Gly1123= Multiple submitters neuroblastoma, susceptibility to, 3
p.Gly1133= Multiple submitters neuroblastoma, susceptibility to, 3
p.Gly1184= Multiple submitters hereditary neoplastic syndrome
p.Gly1201= Multiple submitters hereditary neoplastic syndrome
p.Gly1202= Multiple submitters hereditary neoplastic syndrome
p.Gly1263= Multiple submitters hereditary neoplastic syndrome
p.Gly1269= Multiple submitters neuroblastoma, susceptibility to, 3
p.Gly1287= Multiple submitters neuroblastoma, susceptibility to, 3
p.Gly129= Multiple submitters neuroblastoma, susceptibility to, 3
p.Gly146= Multiple submitters hereditary neoplastic syndrome
p.Gly1508= Multiple submitters hereditary neoplastic syndrome
p.Gly1534= Multiple submitters neuroblastoma, susceptibility to, 3
p.Gly1537= Multiple submitters hereditary neoplastic syndrome
p.Gly156= Multiple submitters hereditary neoplastic syndrome
p.Gly1585= Multiple submitters hereditary neoplastic syndrome
p.Gly159= Multiple submitters neuroblastoma, susceptibility to, 3
p.Gly1619= Multiple submitters hereditary neoplastic syndrome
p.Gly164= Multiple submitters hereditary neoplastic syndrome
p.Gly181= Multiple submitters neuroblastoma, susceptibility to, 3
p.Gly20= Multiple submitters neuroblastoma, susceptibility to, 3
p.Gly221= Multiple submitters neuroblastoma, susceptibility to, 3
p.Gly24= Multiple submitters neuroblastoma, susceptibility to, 3
p.Gly30= Multiple submitters hereditary neoplastic syndrome
p.Gly308= Multiple submitters neuroblastoma, susceptibility to, 3
p.Gly318= Multiple submitters hereditary neoplastic syndrome
p.Gly35= Multiple submitters neuroblastoma, susceptibility to, 3
p.Gly359= Multiple submitters neuroblastoma, susceptibility to, 3
p.Gly382= Multiple submitters neuroblastoma, susceptibility to, 3
p.Gly394= Multiple submitters hereditary neoplastic syndrome
p.Gly428= Multiple submitters hereditary neoplastic syndrome
p.Gly432= Multiple submitters hereditary neoplastic syndrome
p.Gly446= Multiple submitters hereditary neoplastic syndrome
p.Gly452= Multiple submitters hereditary neoplastic syndrome
p.Gly464= Multiple submitters hereditary neoplastic syndrome
p.Gly485= Multiple submitters neuroblastoma, susceptibility to, 3
p.Gly5= Multiple submitters neuroblastoma, susceptibility to, 3
p.Gly574= Multiple submitters neuroblastoma, susceptibility to, 3
p.Gly618= Multiple submitters hereditary neoplastic syndrome
p.Gly692= Multiple submitters neuroblastoma, susceptibility to, 3
p.Gly718= Multiple submitters hereditary neoplastic syndrome
p.Gly743= Multiple submitters hereditary neoplastic syndrome
p.Gly746= Multiple submitters neuroblastoma, susceptibility to, 3
p.Gly761= Multiple submitters hereditary neoplastic syndrome
p.Gly776= Multiple submitters hereditary neoplastic syndrome
p.Gly779= Multiple submitters hereditary neoplastic syndrome
p.Gly816= Multiple submitters hereditary neoplastic syndrome
p.Gly819= Multiple submitters neuroblastoma, susceptibility to, 3
p.Gly821= Multiple submitters hereditary neoplastic syndrome
p.Gly844= Multiple submitters hereditary neoplastic syndrome
p.Gly850= Multiple submitters neuroblastoma, susceptibility to, 3
p.Gly899= Multiple submitters hereditary neoplastic syndrome
p.Gly914= Multiple submitters hereditary neoplastic syndrome
p.Gly925= Multiple submitters hereditary neoplastic syndrome
p.Gly931= Multiple submitters neuroblastoma, susceptibility to, 3
p.Gly932= Multiple submitters hereditary neoplastic syndrome
p.Gly939= Multiple submitters neuroblastoma, susceptibility to, 3
p.Gly952= Multiple submitters neuroblastoma, susceptibility to, 3
p.Gly963= Multiple submitters hereditary neoplastic syndrome
p.His1176= Multiple submitters hereditary neoplastic syndrome
p.His1228= Multiple submitters hereditary neoplastic syndrome
p.His1247= Multiple submitters hereditary neoplastic syndrome
p.His1368= Multiple submitters hereditary neoplastic syndrome
p.His1490= Multiple submitters hereditary neoplastic syndrome
p.His1493= Multiple submitters hereditary neoplastic syndrome
p.His1528= Multiple submitters hereditary neoplastic syndrome
p.His1576= Multiple submitters hereditary neoplastic syndrome
p.His224= Multiple submitters hereditary neoplastic syndrome
p.His331= Multiple submitters neuroblastoma, susceptibility to, 3
p.His354= Multiple submitters neuroblastoma, susceptibility to, 3
p.His384= Multiple submitters hereditary neoplastic syndrome
p.His458= Multiple submitters hereditary neoplastic syndrome
p.His517= Multiple submitters hereditary neoplastic syndrome
p.His583= Multiple submitters neuroblastoma, susceptibility to, 3
p.His682= Multiple submitters hereditary neoplastic syndrome
p.His694= Multiple submitters neuroblastoma, susceptibility to, 3
p.His857= Multiple submitters neuroblastoma, susceptibility to, 3
p.His983= Multiple submitters neuroblastoma, susceptibility to, 3
p.His996= Multiple submitters hereditary neoplastic syndrome
p.Ile1116= Multiple submitters neuroblastoma, susceptibility to, 3
p.Ile1179= Multiple submitters neuroblastoma, susceptibility to, 3
p.Ile1194= Multiple submitters hereditary neoplastic syndrome
p.Ile1250= Multiple submitters hereditary neoplastic syndrome
p.Ile1322= Multiple submitters neuroblastoma, susceptibility to, 3
p.Ile1378= Multiple submitters neuroblastoma, susceptibility to, 3
p.Ile1393= Multiple submitters hereditary neoplastic syndrome
p.Ile1399= Multiple submitters neuroblastoma, susceptibility to, 3
p.Ile1461= Multiple submitters hereditary neoplastic syndrome
p.Ile1608= Multiple submitters neuroblastoma, susceptibility to, 3
p.Ile178= Multiple submitters hereditary neoplastic syndrome
p.Ile187= Multiple submitters neuroblastoma, susceptibility to, 3
p.Ile362= Multiple submitters neuroblastoma, susceptibility to, 3
p.Ile375= Multiple submitters neuroblastoma, susceptibility to, 3
p.Ile393= Multiple submitters neuroblastoma, susceptibility to, 3
p.Ile4= Multiple submitters hereditary neoplastic syndrome
p.Ile407= Multiple submitters hereditary neoplastic syndrome
p.Ile556= Multiple submitters hereditary neoplastic syndrome
p.Ile622= Multiple submitters neuroblastoma, susceptibility to, 3
p.Ile628= Multiple submitters hereditary neoplastic syndrome
p.Ile644= Multiple submitters neuroblastoma, susceptibility to, 3
p.Ile725= Multiple submitters hereditary neoplastic syndrome

Uncertain significance 3465

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

c.1154+5G>A Multiple submitters hereditary neoplastic syndrome
c.1155-3C>T Multiple submitters hereditary neoplastic syndrome
c.1282+3A>G Multiple submitters hereditary neoplastic syndrome
c.1414+1G>A Multiple submitters neuroblastoma, susceptibility to, 3
c.1414+3G>A Multiple submitters hereditary neoplastic syndrome
c.1415-3T>C Multiple submitters hereditary neoplastic syndrome
c.1546+4C>T Multiple submitters hereditary neoplastic syndrome
c.1817+3A>G Multiple submitters hereditary neoplastic syndrome
c.1913-2A>C Multiple submitters hereditary neoplastic syndrome
c.1913-3C>T Multiple submitters neuroblastoma, susceptibility to, 3
c.2041+4A>G Multiple submitters hereditary neoplastic syndrome
c.2041+5G>A Multiple submitters hereditary neoplastic syndrome
c.2204+4C>G Multiple submitters hereditary neoplastic syndrome
c.2204+5G>A Multiple submitters hereditary neoplastic syndrome
c.2487+4_2487+5insA Multiple submitters hereditary neoplastic syndrome
c.2487+4T>C Multiple submitters hereditary neoplastic syndrome
c.2488-2A>G Multiple submitters neuroblastoma, susceptibility to, 3
c.2816-2A>C Multiple submitters neuroblastoma, susceptibility to, 3
c.2816-3C>T Multiple submitters neuroblastoma, susceptibility to, 3
c.2914+4G>A Multiple submitters hereditary neoplastic syndrome
c.2914+5C>T Multiple submitters hereditary neoplastic syndrome
c.3067+3A>G Multiple submitters neuroblastoma, susceptibility to, 3
c.3172+1G>A Multiple submitters hereditary neoplastic syndrome
c.3359+1G>A Multiple submitters neuroblastoma, susceptibility to, 3
c.3359+3G>A Multiple submitters neuroblastoma, susceptibility to, 3
c.3359+4_3359+6delinsGGT Multiple submitters hereditary neoplastic syndrome
c.3359+4A>G Multiple submitters neuroblastoma, susceptibility to, 3
c.3360-1G>T Multiple submitters hereditary neoplastic syndrome
c.3360-3C>T Multiple submitters hereditary neoplastic syndrome
c.3445_3450+13dup Multiple submitters neuroblastoma, susceptibility to, 3
c.3450+3A>G Multiple submitters neuroblastoma, susceptibility to, 3
c.3450+4A>G Multiple submitters hereditary neoplastic syndrome
c.3450+5G>A Multiple submitters neuroblastoma, susceptibility to, 3
c.3451-3C>T Multiple submitters neuroblastoma, susceptibility to, 3
c.3516-3C>T Multiple submitters hereditary neoplastic syndrome
c.3646-3C>G Multiple submitters neuroblastoma, susceptibility to, 3
c.3646-3C>T Multiple submitters neuroblastoma, susceptibility to, 3
c.3743+1G>A Multiple submitters hereditary neoplastic syndrome
c.3743+3G>A Multiple submitters hereditary neoplastic syndrome
c.3743+3G>T Multiple submitters hereditary neoplastic syndrome
c.3744-2A>G Multiple submitters hereditary neoplastic syndrome
c.3836+5G>A Multiple submitters neuroblastoma, susceptibility to, 3
c.3837-3C>T Multiple submitters hereditary neoplastic syndrome
c.3938+4A>G Multiple submitters neuroblastoma, susceptibility to, 3
c.3938+5dup Multiple submitters neuroblastoma, susceptibility to, 3
c.4073+5G>A Multiple submitters neuroblastoma, susceptibility to, 3
c.4074-3T>C Multiple submitters hereditary neoplastic syndrome
c.4164+3A>G Multiple submitters neuroblastoma, susceptibility to, 3
c.4165-5G>A Multiple submitters neuroblastoma, susceptibility to, 3
c.4165-6_4165-5delinsTA Multiple submitters hereditary neoplastic syndrome
c.667+4A>G Multiple submitters hereditary neoplastic syndrome
c.787+4A>G Multiple submitters hereditary neoplastic syndrome
c.788delG Multiple submitters neuroblastoma, susceptibility to, 3
c.952+1G>A Multiple submitters hereditary neoplastic syndrome
c.952+3A>G Multiple submitters neuroblastoma, susceptibility to, 3
c.-1G>A Multiple submitters hereditary neoplastic syndrome
c.-3G>A Multiple submitters hereditary neoplastic syndrome
p.Ala1015Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1015Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1043Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1046Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1047Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1051Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala105Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala105Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala105Thr Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Ala105Val Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Ala1068Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1099Thr Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Ala1126Pro Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Ala1126Thr Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Ala112Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala116Asp Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Ala118Pro Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Ala1200Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1222Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1230Thr Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Ala1234Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1274Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1280Glu Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Ala1280Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1289Val Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Ala138Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala138Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala138Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1396Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1430Ser Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Ala1440Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1440Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1440Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1453Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1458Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1459Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1479Val Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Ala149Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala149Val Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Ala1523Val Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Ala1546Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1553Gly Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Ala1553Ser Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Ala1553Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1595Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1596Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala161Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala161Val Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Ala18Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala18Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala18Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala195Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala195Thr Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Ala206Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala207Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala298Gly Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Ala298Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala298Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala29Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala327Asp Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Ala33Ser Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Ala348Asp Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Ala34Val Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Ala371Asp Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Ala371Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala416Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala416Val Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Ala436Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala454Gly Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Ala454Thr Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Ala454Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala462Ser Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Ala509Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala537Val Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Ala55Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala586Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala613Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala613Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala624Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala68Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala68Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala690Ser Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Ala690Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala699Val Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Ala704Ser Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Ala704Thr Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Ala730Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala782Thr Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Ala782Val Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Ala815Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala824Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala82Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala841Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala848Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala848Val Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Ala876Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala877Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala877Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala87Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala892Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala900Thr Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Ala909Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala942Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala942Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala943Pro Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Ala969Gly Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Ala96Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg100Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1060Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1061= Multiple submitters hereditary neoplastic syndrome
p.Arg1061Trp Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Arg1084Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1084His Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1113Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1120Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1120Trp Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Arg1181Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1181His Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Arg1192Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1192Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1192Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1209Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1209Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1209Ter Multiple submitters neuroblastoma, susceptibility to, 3
p.Arg1212Cys Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Arg1212His Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Arg1212Pro Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Arg1212Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1214Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1214His Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg121Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg121Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1248Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1248Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1264Ile Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Arg1264Lys Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Arg1275Ter Multiple submitters neuroblastoma, susceptibility to, 3
p.Arg1279Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg133Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1347Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1347Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1360Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1360Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg136Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg136Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1373Gly Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Arg1373Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1373Ser Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Arg137Cys Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Arg137His Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg137Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1414Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1414Met Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Arg1432Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1432Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1432Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1436Cys Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Arg1436Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1464Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1464Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1464Ter Multiple submitters neuroblastoma, susceptibility to, 3
p.Arg1467Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1496Gly Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Arg1496Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1530Ser Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Arg1573Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1575Cys Multiple submitters ALK-related disorder ⚠
p.Arg1575Gly Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Arg1575His Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Arg1575Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg179Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg184Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg186Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg186Lys Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Arg186Ser Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Arg188Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg188His Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg188Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg203Ser Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Arg209Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg209Gly Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Arg214Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg214His Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Arg259Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg261Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg284Lys Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Arg284Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg28Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg291Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg311Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg353Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg360Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg360Ser Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Arg373Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg373Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg395Ser Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Arg401Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg412Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg41Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg41Trp Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Arg472Trp Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Arg48Pro Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Arg48Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg504Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg510Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg51Gly Multiple submitters ⚠
p.Arg557Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg557Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg561Thr Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Arg579Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg579Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg579Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg620Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg65Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg65Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg69Trp Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Arg753Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg753Gly Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Arg753Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg806Ser Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Arg860Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg88Cys Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Arg918Ser Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Arg918Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn1140Ser Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Asn1175Ser Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Asn1353Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn1477Ser Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Asn1484Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn1484Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn1532Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn1581Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn1581Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn1583Ile Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Asn1613Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn1613Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn232Ser Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Asn232Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn244Thr Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Asn244Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn369Lys Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Asn398Ser Multiple submitters neuroblastoma, susceptibility to, 3 ⚠
p.Asn424Asp Multiple submitters hereditary neoplastic syndrome ⚠