HAND1 — 183 ClinVar variants
All ClinVar germline HAND1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 103 flagged for review →
3 Conflicting · 5 Benign · 2 Benign/Likely benign · 51 Likely benign · 122 Uncertain significance
Full HAND1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 103
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
HAND1 p.Pro16Thr
Conflicting
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.Pro189Leu
Conflicting
Single submitter
hypoplastic left heart syndrome
Predictors lean, ClinVar uncertain 77
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
HAND1 p.Ala68Pro
Uncertain significance
Multiple submitters
hypoplastic left heart syndrome
-
HAND1 p.Arg91Gly
Uncertain significance
Multiple submitters
hypoplastic left heart syndrome
-
HAND1 p.Gln43Arg
Uncertain significance
Multiple submitters
hypoplastic left heart syndrome
-
HAND1 p.Glu103Gly
Uncertain significance
Multiple submitters
hypoplastic left heart syndrome
-
HAND1 p.Leu3Val
Uncertain significance
Multiple submitters
hypoplastic left heart syndrome
-
HAND1 p.Pro125Arg
Uncertain significance
Multiple submitters
hypoplastic left heart syndrome
-
HAND1 p.Pro188Ala
Uncertain significance
Multiple submitters
hypoplastic left heart syndrome
-
HAND1 p.Tyr72Cys
Uncertain significance
Multiple submitters
hypoplastic left heart syndrome
-
HAND1 p.Val124Met
Uncertain significance
Multiple submitters
HAND1-related disorder
-
HAND1 p.Ala113Ser
Uncertain significance
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.Ala161Thr
Uncertain significance
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.Ala210Pro
Uncertain significance
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.Ala52Thr
Uncertain significance
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.Ala53Val
Uncertain significance
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.Ala58Glu
Uncertain significance
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.Ala58Val
Uncertain significance
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.Ala64Thr
Uncertain significance
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.Ala66Thr
Uncertain significance
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.Ala8Ser
Uncertain significance
Single submitter
hypoplastic left heart syndrome
- HAND1 p.Arg104Gly Uncertain significance Single submitter
-
HAND1 p.Arg137Leu
Uncertain significance
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.Arg77Ser
Uncertain significance
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.Arg84Gly
Uncertain significance
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.Arg91Pro
Uncertain significance
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.Asp127Tyr
Uncertain significance
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.Asp148Glu
Uncertain significance
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.Asp158Val
Uncertain significance
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.Asp51Val
Uncertain significance
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.Gln37Arg
Uncertain significance
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.Gln37His
Uncertain significance
Single submitter
hypoplastic left heart syndrome
- HAND1 p.Gln80Pro Uncertain significance Single submitter
-
HAND1 p.Glu119Gln
Uncertain significance
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.Glu160Gly
Uncertain significance
Single submitter
hypoplastic left heart syndrome
- HAND1 p.Glu185Lys Uncertain significance Single submitter
-
HAND1 p.Gly192Ser
Uncertain significance
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.Gly60Arg
Uncertain significance
Single submitter
hypoplastic left heart syndrome
- HAND1 p.Gly79Ala Uncertain significance Single submitter
-
HAND1 p.Gly79Arg
Uncertain significance
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.Gly97Cys
Uncertain significance
Single submitter
hypoplastic left heart syndrome
- HAND1 p.Gly99Ala Uncertain significance Single submitter
-
HAND1 p.His15Pro
Uncertain significance
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.His17Gln
Uncertain significance
Single submitter
hypoplastic left heart syndrome
- HAND1 p.His184Arg Uncertain significance Single submitter
-
HAND1 p.His184Leu
Uncertain significance
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.His24Gln
Uncertain significance
Single submitter
hypoplastic left heart syndrome
- HAND1 p.His36Arg Uncertain significance Single submitter
- HAND1 p.His9Tyr Uncertain significance Single submitter
-
HAND1 p.Leu138Pro
Uncertain significance
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.Leu166Phe
Uncertain significance
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.Leu23Phe
Uncertain significance
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.Leu3Ile
Uncertain significance
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.Leu3Phe
Uncertain significance
Single submitter
hypoplastic left heart syndrome
- HAND1 p.Leu88Val Uncertain significance Single submitter
- HAND1 p.Lys134Arg Uncertain significance Single submitter
-
HAND1 p.Lys134Asn
Uncertain significance
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.Lys167Arg
Uncertain significance
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.Lys196Arg
Uncertain significance
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.Pro122Ser
Uncertain significance
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.Pro125Leu
Uncertain significance
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.Pro189Ser
Uncertain significance
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.Pro21Leu
Uncertain significance
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.Pro49Arg
Uncertain significance
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.Pro54Leu
Uncertain significance
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.Pro57Ser
Uncertain significance
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.Pro61Gln
Uncertain significance
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.Pro61Ser
Uncertain significance
Single submitter
hypoplastic left heart syndrome
- HAND1 p.Pro63Leu Uncertain significance Single submitter
-
HAND1 p.Pro63Ser
Uncertain significance
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.Pro82Leu
Uncertain significance
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.Ser141Asn
Uncertain significance
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.Ser141Gly
Uncertain significance
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.Ser33Leu
Uncertain significance
Single submitter
hypoplastic left heart syndrome
- HAND1 p.Ser44Gly Uncertain significance Single submitter
-
HAND1 p.Thr107Pro
Uncertain significance
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.Thr140Ala
Uncertain significance
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.Val124Leu
Uncertain significance
Single submitter
hypoplastic left heart syndrome
- HAND1 p.Val194Ala Uncertain significance Single submitter
Predictors split 24
The independent predictors disagree with each other — read with care.
-
HAND1 p.Gly203Ala
Uncertain significance
Multiple submitters
HAND1-related disorder
-
HAND1 p.Ser44Arg
Uncertain significance
Multiple submitters
hypoplastic left heart syndrome
-
HAND1 p.Tyr41Cys
Uncertain significance
Multiple submitters
hypoplastic left heart syndrome
-
HAND1 p.Ala210Val
Uncertain significance
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.Arg173Leu
Likely benign
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.Arg179Trp
Uncertain significance
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.Asn2Asp
Uncertain significance
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.Asn2Lys
Uncertain significance
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.Glu38Lys
Uncertain significance
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.Gly200Glu
Uncertain significance
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.Gly30Arg
Uncertain significance
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.His12Gln
Uncertain significance
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.His13Tyr
Uncertain significance
Single submitter
hypoplastic left heart syndrome
- HAND1 p.His15Tyr Uncertain significance Single submitter
-
HAND1 p.His36Pro
Uncertain significance
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.Phe42Leu
Uncertain significance
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.Pro205Thr
Uncertain significance
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.Pro40Thr
Uncertain significance
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.Pro54Arg
Uncertain significance
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.Thr202Ala
Uncertain significance
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.Trp45Cys
Uncertain significance
Single submitter
hypoplastic left heart syndrome
- HAND1 p.Trp45Ser Uncertain significance Single submitter
-
HAND1 p.Val149Leu
Uncertain significance
Single submitter
hypoplastic left heart syndrome
-
HAND1 p.Val4Met
Uncertain significance
Single submitter
hypoplastic left heart syndrome
All HAND1 variants
Conflicting classifications of pathogenicity 3
- p.Glu119Asp Single submitter hypoplastic left heart syndrome
- p.Pro16Thr Single submitter hypoplastic left heart syndrome ⚠
- p.Pro189Leu Single submitter hypoplastic left heart syndrome ⚠
Benign 5
- p.Arg177= Multiple submitters hypoplastic left heart syndrome
- c.543+52G>C Single submitter
- c.543+70A>G Single submitter
- c.-201T>C Single submitter
- p.Gly60= Single submitter hypoplastic left heart syndrome
Benign/Likely benign 2
- p.Gly83Trp Multiple submitters hypoplastic left heart syndrome
- p.Pro54= Multiple submitters hypoplastic left heart syndrome
Likely benign 51
- p.Ala113= Multiple submitters hypoplastic left heart syndrome
- p.Ala32= Multiple submitters hypoplastic left heart syndrome
- p.Glu160= Multiple submitters hypoplastic left heart syndrome
- p.Pro193= Multiple submitters hypoplastic left heart syndrome
- p.Pro62= Multiple submitters hypoplastic left heart syndrome
- p.Ser156= Multiple submitters hypoplastic left heart syndrome
- c.543+19A>T Single submitter hypoplastic left heart syndrome
- c.544-11T>G Single submitter hypoplastic left heart syndrome
- c.544-13T>G Single submitter hypoplastic left heart syndrome
- c.544-18C>G Single submitter hypoplastic left heart syndrome
- c.*18G>C Single submitter
- p.Ala115= Single submitter hypoplastic left heart syndrome
- p.Ala126= Single submitter hypoplastic left heart syndrome
- p.Ala144= Single submitter hypoplastic left heart syndrome
- p.Ala53= Single submitter hypoplastic left heart syndrome
- p.Ala58= Single submitter hypoplastic left heart syndrome
- p.Ala68= Single submitter hypoplastic left heart syndrome
- p.Ala71= Single submitter
- p.Ala87= Single submitter hypoplastic left heart syndrome
- p.Arg118= Single submitter
- p.Arg173Leu Single submitter hypoplastic left heart syndrome ⚠
- p.Arg84= Single submitter hypoplastic left heart syndrome
- p.Arg94= Single submitter hypoplastic left heart syndrome
- p.Asp75= Single submitter hypoplastic left heart syndrome
- p.Cys120= Single submitter hypoplastic left heart syndrome
- p.Glu212= Single submitter
- p.Gly171= Single submitter hypoplastic left heart syndrome
- p.Gly172= Single submitter hypoplastic left heart syndrome
- p.Gly200= Single submitter hypoplastic left heart syndrome
- p.Gly203= Single submitter hypoplastic left heart syndrome
- p.Gly30Ser Single submitter hypoplastic left heart syndrome
- p.Gly73= Single submitter hypoplastic left heart syndrome
- p.Gly79= Single submitter hypoplastic left heart syndrome
- p.Gly89= Single submitter hypoplastic left heart syndrome
- p.Gly93= Single submitter hypoplastic left heart syndrome
- p.His12= Single submitter hypoplastic left heart syndrome
- p.Leu136= Single submitter
- p.Lys168= Single submitter hypoplastic left heart syndrome
- p.Phe187= Single submitter
- p.Pro125= Single submitter hypoplastic left heart syndrome
- p.Pro188= Single submitter hypoplastic left heart syndrome
- p.Pro205= Single submitter hypoplastic left heart syndrome
- p.Pro26Ser Single submitter hypoplastic left heart syndrome
- p.Pro49= Single submitter hypoplastic left heart syndrome
- p.Pro61= Single submitter hypoplastic left heart syndrome
- p.Ter216= Single submitter hypoplastic left heart syndrome
- p.Thr107= Single submitter
- p.Thr140= Single submitter hypoplastic left heart syndrome
- p.Thr202= Single submitter hypoplastic left heart syndrome
- p.Thr70= Single submitter hypoplastic left heart syndrome
- p.Val149= Single submitter hypoplastic left heart syndrome
Uncertain significance 122
- p.Ala68Pro Multiple submitters hypoplastic left heart syndrome ⚠
- p.Arg91Gly Multiple submitters hypoplastic left heart syndrome ⚠
- p.Gln43Arg Multiple submitters hypoplastic left heart syndrome ⚠
- p.Glu103Gly Multiple submitters hypoplastic left heart syndrome ⚠
- p.Gly203Ala Multiple submitters HAND1-related disorder ⚠
- p.Leu3Val Multiple submitters hypoplastic left heart syndrome ⚠
- p.Pro125Arg Multiple submitters hypoplastic left heart syndrome ⚠
- p.Pro188Ala Multiple submitters hypoplastic left heart syndrome ⚠
- p.Ser44Arg Multiple submitters hypoplastic left heart syndrome ⚠
- p.Tyr41Cys Multiple submitters hypoplastic left heart syndrome ⚠
- p.Tyr72Cys Multiple submitters hypoplastic left heart syndrome ⚠
- p.Val124Met Multiple submitters HAND1-related disorder ⚠
- c.544-1G>C Single submitter hypoplastic left heart syndrome
- p.Ala113Ser Single submitter hypoplastic left heart syndrome ⚠
- p.Ala161Thr Single submitter hypoplastic left heart syndrome ⚠
- p.Ala210Pro Single submitter hypoplastic left heart syndrome ⚠
- p.Ala210Val Single submitter hypoplastic left heart syndrome ⚠
- p.Ala52Thr Single submitter hypoplastic left heart syndrome ⚠
- p.Ala53Val Single submitter hypoplastic left heart syndrome ⚠
- p.Ala58Glu Single submitter hypoplastic left heart syndrome ⚠
- p.Ala58Val Single submitter hypoplastic left heart syndrome ⚠
- p.Ala64Thr Single submitter hypoplastic left heart syndrome ⚠
- p.Ala66Thr Single submitter hypoplastic left heart syndrome ⚠
- p.Ala8Ser Single submitter hypoplastic left heart syndrome ⚠
- p.Arg104Gly Single submitter ⚠
- p.Arg137Leu Single submitter hypoplastic left heart syndrome ⚠
- p.Arg179Trp Single submitter hypoplastic left heart syndrome ⚠
- p.Arg34Leu Single submitter hypoplastic left heart syndrome
- p.Arg39Ser Single submitter hypoplastic left heart syndrome
- p.Arg77Ser Single submitter hypoplastic left heart syndrome ⚠
- p.Arg84Gly Single submitter hypoplastic left heart syndrome ⚠
- p.Arg91Pro Single submitter hypoplastic left heart syndrome ⚠
- p.Arg91Ser Single submitter hypoplastic left heart syndrome
- p.Asn214His Single submitter hypoplastic left heart syndrome
- p.Asn2Asp Single submitter hypoplastic left heart syndrome ⚠
- p.Asn2Lys Single submitter hypoplastic left heart syndrome ⚠
- p.Asp127Tyr Single submitter hypoplastic left heart syndrome ⚠
- p.Asp148Glu Single submitter hypoplastic left heart syndrome ⚠
- p.Asp158Val Single submitter hypoplastic left heart syndrome ⚠
- p.Asp51Val Single submitter hypoplastic left heart syndrome ⚠
- p.Gln37Arg Single submitter hypoplastic left heart syndrome ⚠
- p.Gln37His Single submitter hypoplastic left heart syndrome ⚠
- p.Gln80Pro Single submitter ⚠
- p.Glu119Gln Single submitter hypoplastic left heart syndrome ⚠
- p.Glu160Gly Single submitter hypoplastic left heart syndrome ⚠
- p.Glu185Lys Single submitter ⚠
- p.Glu25fs Single submitter hypoplastic left heart syndrome
- p.Glu38Lys Single submitter hypoplastic left heart syndrome ⚠
- p.Glu86Val Single submitter hypoplastic left heart syndrome
- p.Gly171Asp Single submitter hypoplastic left heart syndrome
- p.Gly192Ser Single submitter hypoplastic left heart syndrome ⚠
- p.Gly200Glu Single submitter hypoplastic left heart syndrome ⚠
- p.Gly30Arg Single submitter hypoplastic left heart syndrome ⚠
- p.Gly60Arg Single submitter hypoplastic left heart syndrome ⚠
- p.Gly79Ala Single submitter ⚠
- p.Gly79Arg Single submitter hypoplastic left heart syndrome ⚠
- p.Gly83Arg Single submitter
- p.Gly97Cys Single submitter hypoplastic left heart syndrome ⚠
- p.Gly99Ala Single submitter ⚠
- p.His12Gln Single submitter hypoplastic left heart syndrome ⚠
- p.His13_His15del Single submitter hypoplastic left heart syndrome
- p.His13Tyr Single submitter hypoplastic left heart syndrome ⚠
- p.His15Pro Single submitter hypoplastic left heart syndrome ⚠
- p.His15Tyr Single submitter ⚠
- p.His17Gln Single submitter hypoplastic left heart syndrome ⚠
- p.His184Arg Single submitter ⚠
- p.His184Leu Single submitter hypoplastic left heart syndrome ⚠
- p.His24Gln Single submitter hypoplastic left heart syndrome ⚠
- p.His36Arg Single submitter ⚠
- p.His36Pro Single submitter hypoplastic left heart syndrome ⚠
- p.His9Tyr Single submitter ⚠
- p.Leu138Pro Single submitter hypoplastic left heart syndrome ⚠
- p.Leu166Phe Single submitter hypoplastic left heart syndrome ⚠
- p.Leu23Phe Single submitter hypoplastic left heart syndrome ⚠
- p.Leu28fs Single submitter hypoplastic left heart syndrome
- p.Leu3Ile Single submitter hypoplastic left heart syndrome ⚠
- p.Leu3Phe Single submitter hypoplastic left heart syndrome ⚠
- p.Leu88Val Single submitter ⚠
- p.Lys134Arg Single submitter ⚠
- p.Lys134Asn Single submitter hypoplastic left heart syndrome ⚠
- p.Lys134Ter Single submitter hypoplastic left heart syndrome
- p.Lys152Glu Single submitter hypoplastic left heart syndrome
- p.Lys152Thr Single submitter hypoplastic left heart syndrome
- p.Lys163Gln Single submitter hypoplastic left heart syndrome
- p.Lys167Arg Single submitter hypoplastic left heart syndrome ⚠
- p.Lys196Arg Single submitter hypoplastic left heart syndrome ⚠
- p.Met1Val Single submitter hypoplastic left heart syndrome
- p.Phe42Leu Single submitter hypoplastic left heart syndrome ⚠
- p.Phe56Leu Single submitter hypoplastic left heart syndrome
- p.Pro122Ser Single submitter hypoplastic left heart syndrome ⚠
- p.Pro125Leu Single submitter hypoplastic left heart syndrome ⚠
- p.Pro189Ser Single submitter hypoplastic left heart syndrome ⚠
- p.Pro205Thr Single submitter hypoplastic left heart syndrome ⚠
- p.Pro21_Met22insAlaHisPro Single submitter hypoplastic left heart syndrome
- p.Pro21Leu Single submitter hypoplastic left heart syndrome ⚠
- p.Pro40Thr Single submitter hypoplastic left heart syndrome ⚠
- p.Pro49Arg Single submitter hypoplastic left heart syndrome ⚠
- p.Pro54Arg Single submitter hypoplastic left heart syndrome ⚠
- p.Pro54Leu Single submitter hypoplastic left heart syndrome ⚠
- p.Pro57Ser Single submitter hypoplastic left heart syndrome ⚠
- p.Pro61Gln Single submitter hypoplastic left heart syndrome ⚠
- p.Pro61Ser Single submitter hypoplastic left heart syndrome ⚠
- p.Pro63Leu Single submitter ⚠
- p.Pro63Ser Single submitter hypoplastic left heart syndrome ⚠
- p.Pro82Leu Single submitter hypoplastic left heart syndrome ⚠
- p.Ser141Asn Single submitter hypoplastic left heart syndrome ⚠
- p.Ser141Gly Single submitter hypoplastic left heart syndrome ⚠
- p.Ser33Leu Single submitter hypoplastic left heart syndrome ⚠
- p.Ser44Gly Single submitter ⚠
- p.Thr107Pro Single submitter hypoplastic left heart syndrome ⚠
- p.Thr140Ala Single submitter hypoplastic left heart syndrome ⚠
- p.Thr202Ala Single submitter hypoplastic left heart syndrome ⚠
- p.Trp209Ter Single submitter hypoplastic left heart syndrome
- p.Trp45Cys Single submitter hypoplastic left heart syndrome ⚠
- p.Trp45Ser Single submitter ⚠
- p.Tyr41Ser Single submitter
- p.Val124Leu Single submitter hypoplastic left heart syndrome ⚠
- p.Val149Leu Single submitter hypoplastic left heart syndrome ⚠
- p.Val194Ala Single submitter ⚠
- p.Val4Ala Single submitter hypoplastic left heart syndrome
- p.Val4Leu Single submitter
- p.Val4Met Single submitter hypoplastic left heart syndrome ⚠