AASDH — 138 ClinVar variants

All ClinVar germline AASDH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 126 flagged for review →

1 Benign · 11 Likely benign · 126 Uncertain significance

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

⚑ Evidence disagreements 126

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 lean, ClinVar uncertain 75

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 51

The independent predictors disagree with each other — read with care.

All AASDH variants

Benign 1

p.Ile61Val Multiple submitters

Likely benign 11

p.Ala321= Single submitter
p.Ala321Val Single submitter
p.Arg17Lys Single submitter
p.Arg223Leu Single submitter
p.Gly200= Single submitter
p.Ile951Val Single submitter
p.Leu186Val Single submitter
p.Leu325= Single submitter
p.Phe669Leu Single submitter
p.Pro987Ser Single submitter
p.Ser1018Ala Single submitter

Uncertain significance 126

p.Ala274Val Single submitter ⚠
p.Ala643Asp Single submitter ⚠
p.Ala643Thr Single submitter ⚠
p.Ala705Gly Single submitter ⚠
p.Ala878Thr Single submitter ⚠
p.Ala880Thr Single submitter ⚠
p.Arg1019Thr Single submitter ⚠
p.Arg313Gln Single submitter ⚠
p.Arg449His Single submitter ⚠
p.Arg453Cys Single submitter ⚠
p.Arg594Gln Single submitter ⚠
p.Asn1031Ser Single submitter ⚠
p.Asn137Ser Single submitter ⚠
p.Asn176Asp Single submitter ⚠
p.Asn26Asp Single submitter ⚠
p.Asn478Asp Single submitter ⚠
p.Asn691Ser Single submitter ⚠
p.Asp138Glu Single submitter ⚠
p.Asp16Asn Single submitter ⚠
p.Asp227His Single submitter ⚠
p.Asp414Gly Single submitter ⚠
p.Asp733Val Single submitter ⚠
p.Cys947Tyr Single submitter ⚠
p.Cys955Ser Single submitter ⚠
p.Cys999Ser Single submitter ⚠
p.Glu1051Ala Single submitter ⚠
p.Glu1051Asp Single submitter ⚠
p.Glu1075Gln Single submitter ⚠
p.Glu112Gly Single submitter ⚠
p.Glu465Asp Single submitter ⚠
p.Glu546Gln Single submitter ⚠
p.Glu600Lys Single submitter ⚠
p.Glu612Asp Single submitter ⚠
p.Glu654Ala Single submitter ⚠
p.Glu989Gly Single submitter ⚠
p.Gly1032Asp Single submitter ⚠
p.Gly203Glu Single submitter ⚠
p.Gly333Ala Single submitter ⚠
p.Gly397Asp Single submitter ⚠
p.Gly967Glu Single submitter ⚠
p.His123Arg Single submitter ⚠
p.His136Arg Single submitter ⚠
p.His190Asp Single submitter ⚠
p.His197Arg Single submitter ⚠
p.His701Asn Single submitter ⚠
p.His99Arg Single submitter ⚠
p.Ile167Arg Single submitter ⚠
p.Ile219Thr Single submitter ⚠
p.Ile340Leu Single submitter ⚠
p.Ile456Thr Single submitter ⚠
p.Ile497Val Single submitter ⚠
p.Ile536Met Single submitter ⚠
p.Ile593Val Single submitter ⚠
p.Ile675Phe Single submitter ⚠
p.Ile728Met Single submitter ⚠
p.Ile748Leu Single submitter ⚠
p.Ile814Phe Single submitter ⚠
p.Ile871Thr Single submitter ⚠
p.Ile953Thr Single submitter ⚠
p.Leu153Phe Single submitter ⚠
p.Leu155Arg Single submitter ⚠
p.Leu286Phe Single submitter ⚠
p.Leu328Phe Single submitter ⚠
p.Leu375Val Single submitter ⚠
p.Leu581Arg Single submitter ⚠
p.Leu602Arg Single submitter ⚠
p.Leu722Val Single submitter ⚠
p.Leu881Val Single submitter ⚠
p.Leu916Met Single submitter ⚠
p.Lys1013Arg Single submitter ⚠
p.Lys107Asn Single submitter ⚠
p.Lys166Thr Single submitter ⚠
p.Lys368Asn Single submitter ⚠
p.Lys698Met Single submitter ⚠
p.Met1036Ile Single submitter ⚠
p.Met1036Val Single submitter ⚠
p.Met753Ile Single submitter ⚠
p.Met849Ile Single submitter ⚠
p.Met862Thr Single submitter ⚠
p.Phe100Leu Single submitter ⚠
p.Phe1025Ser Single submitter ⚠
p.Phe142Leu Single submitter ⚠
p.Phe392Leu Single submitter ⚠
p.Phe429Val Single submitter ⚠
p.Phe966Ser Single submitter ⚠
p.Phe980Ser Single submitter ⚠
p.Pro1024Leu Single submitter ⚠
p.Pro1064Ser Single submitter ⚠
p.Pro632Ser Single submitter ⚠
p.Pro734Leu Single submitter ⚠
p.Pro902Ser Single submitter ⚠
p.Pro939Ala Single submitter ⚠
p.Pro939Leu Single submitter ⚠
p.Pro94Ser Single submitter ⚠
p.Pro983Ser Single submitter ⚠
p.Ser1070Phe Single submitter ⚠
p.Ser12Cys Single submitter ⚠
p.Ser255Arg Single submitter ⚠
p.Ser258Phe Single submitter ⚠
p.Ser258Thr Single submitter ⚠
p.Ser279Ala Single submitter ⚠
p.Ser298Phe Single submitter ⚠
p.Ser73Tyr Single submitter ⚠
p.Ser900Cys Single submitter ⚠
p.Ser943Pro Single submitter ⚠
p.Thr1023Ile Single submitter ⚠
p.Thr125Ile Single submitter ⚠
p.Thr2Ile Single submitter ⚠
p.Thr362Asn Single submitter ⚠
p.Thr366Pro Single submitter ⚠
p.Thr389Asn Single submitter ⚠
p.Thr475Ile Single submitter ⚠
p.Thr784Ala Single submitter ⚠
p.Thr861Ser Single submitter ⚠
p.Trp1012Gly Single submitter ⚠
p.Tyr1021Cys Single submitter ⚠
p.Tyr129Cys Single submitter ⚠
p.Tyr32Asn Single submitter ⚠
p.Tyr786His Single submitter ⚠
p.Val1087Ala Single submitter ⚠
p.Val469Met Single submitter ⚠
p.Val515Ile Single submitter ⚠
p.Val607Leu Single submitter ⚠
p.Val726Phe Single submitter ⚠
p.Val737Ile Single submitter ⚠
p.Val767Ala Single submitter ⚠