APBA3 — 155 ClinVar variants

All ClinVar germline APBA3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 146 flagged for review →

1 Benign · 8 Likely benign · 146 Uncertain significance

Full APBA3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 146

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 76

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

Predictors split 70

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

All APBA3 variants

Benign 1

p.Pro187= Single submitter

Likely benign 8

p.Ala375Thr Single submitter
p.Arg247Gln Single submitter
p.Arg8Gln Single submitter
p.Gly190Ser Single submitter
p.Gly45Ser Single submitter
p.Pro174Ser Single submitter
p.Pro74Leu Single submitter
p.Val270Ile Single submitter

Uncertain significance 146

p.Ala158Val Single submitter ⚠
p.Ala202Val Single submitter ⚠
p.Ala223Val Single submitter ⚠
p.Ala308Val Single submitter ⚠
p.Ala317Val Single submitter ⚠
p.Ala335Thr Single submitter ⚠
p.Ala335Val Single submitter ⚠
p.Ala351Thr Single submitter ⚠
p.Ala352Thr Single submitter ⚠
p.Ala432Val Single submitter ⚠
p.Ala437Thr Single submitter ⚠
p.Ala446Thr Single submitter ⚠
p.Ala446Val Single submitter ⚠
p.Ala459Val Single submitter ⚠
p.Ala486Thr Single submitter ⚠
p.Ala486Val Single submitter ⚠
p.Ala515Val Single submitter ⚠
p.Ala560Val Single submitter ⚠
p.Ala66Val Single submitter ⚠
p.Arg109Trp Single submitter ⚠
p.Arg137Pro Single submitter ⚠
p.Arg242Cys Single submitter ⚠
p.Arg242His Single submitter ⚠
p.Arg242Pro Single submitter ⚠
p.Arg247Trp Single submitter ⚠
p.Arg252Cys Single submitter ⚠
p.Arg252His Single submitter ⚠
p.Arg309Leu Single submitter ⚠
p.Arg309Trp Single submitter ⚠
p.Arg310Gln Single submitter ⚠
p.Arg311Gln Single submitter ⚠
p.Arg311Trp Single submitter ⚠
p.Arg314Gln Single submitter ⚠
p.Arg323Cys Single submitter ⚠
p.Arg323His Single submitter ⚠
p.Arg324Cys Single submitter ⚠
p.Arg324His Single submitter ⚠
p.Arg358Trp Single submitter ⚠
p.Arg393Gln Single submitter ⚠
p.Arg400Trp Single submitter ⚠
p.Arg401Gln Single submitter ⚠
p.Arg434His Single submitter ⚠
p.Arg443Cys Single submitter ⚠
p.Arg465Cys Single submitter ⚠
p.Arg465His Single submitter ⚠
p.Arg490Gln Single submitter ⚠
p.Arg494His Single submitter ⚠
p.Arg49Gly Single submitter ⚠
p.Arg511His Single submitter ⚠
p.Arg517His Single submitter ⚠
p.Arg521Cys Single submitter ⚠
p.Arg525Cys Single submitter ⚠
p.Arg525His Single submitter ⚠
p.Arg541His Single submitter ⚠
p.Arg564Cys Single submitter ⚠
p.Asn380Ser Single submitter ⚠
p.Asn391Tyr Single submitter ⚠
p.Asp144Val Single submitter ⚠
p.Asp17His Single submitter ⚠
p.Asp214Glu Single submitter ⚠
p.Asp251Asn Single submitter ⚠
p.Asp299Asn Single submitter ⚠
p.Asp2Val Single submitter ⚠
p.Asp34Glu Single submitter ⚠
p.Asp34Val Single submitter ⚠
p.Asp442Asn Single submitter ⚠
p.Cys330Tyr Single submitter ⚠
p.Gln125Arg Single submitter ⚠
p.Gln204Glu Single submitter ⚠
p.Gln36Pro Single submitter ⚠
p.Glu130Gly Single submitter ⚠
p.Glu133Ala Single submitter ⚠
p.Glu185Ala Single submitter ⚠
p.Glu265Asp Single submitter ⚠
p.Glu495Lys Single submitter ⚠
p.Glu516Lys Single submitter ⚠
p.Glu552Lys Single submitter ⚠
p.Glu65Gln Single submitter ⚠
p.Gly208Arg Single submitter ⚠
p.Gly218Ser Single submitter ⚠
p.Gly322Ser Single submitter ⚠
p.Gly415Ala Single submitter ⚠
p.Gly429Arg Single submitter ⚠
p.Gly430Arg Single submitter ⚠
p.Gly504Asp Single submitter ⚠
p.Gly531Trp Single submitter ⚠
p.His539Tyr Single submitter ⚠
p.Ile275Asn Single submitter ⚠
p.Ile341Phe Single submitter ⚠
p.Ile345Val Single submitter ⚠
p.Ile527Met Single submitter ⚠
p.Ile6Ser Single submitter ⚠
p.Leu103Val Single submitter ⚠
p.Leu116Val Single submitter ⚠
p.Leu181Ile Single submitter ⚠
p.Leu340Pro Single submitter ⚠
p.Leu383Pro Single submitter ⚠
p.Leu438Phe Single submitter ⚠
p.Leu475Phe Single submitter ⚠
p.Leu566Pro Single submitter ⚠
p.Leu575Pro Single submitter ⚠
p.Leu71Val Single submitter ⚠
p.Met243Val Single submitter ⚠
p.Met286Val Single submitter ⚠
p.Met328Ile Single submitter ⚠
p.Phe64Val Single submitter ⚠
p.Pro122Thr Single submitter ⚠
p.Pro136Ala Single submitter ⚠
p.Pro136Arg Single submitter ⚠
p.Pro142Ser Single submitter ⚠
p.Pro172Leu Single submitter ⚠
p.Pro371Leu Single submitter ⚠
p.Pro431Thr Single submitter ⚠
p.Pro491Leu Single submitter ⚠
p.Pro491Ser Single submitter ⚠
p.Pro572Leu Single submitter ⚠
p.Pro68Ser Single submitter ⚠
p.Ser104Phe Single submitter ⚠
p.Ser11Trp Single submitter ⚠
p.Ser124Pro Single submitter ⚠
p.Ser165Arg Single submitter ⚠
p.Ser193Ile Single submitter ⚠
p.Ser28Leu Single submitter ⚠
p.Ser387Phe Single submitter ⚠
p.Ser412Leu Single submitter ⚠
p.Ser435Leu Single submitter ⚠
p.Ser533Thr Single submitter ⚠
p.Thr126Ala Single submitter ⚠
p.Thr260Ser Single submitter ⚠
p.Thr264Met Single submitter ⚠
p.Thr467Met Single submitter ⚠
p.Thr471Met Single submitter ⚠
p.Trp37Leu Single submitter ⚠
p.Tyr550Cys Single submitter ⚠
p.Tyr574His Single submitter ⚠
p.Val179Met Single submitter ⚠
p.Val26Met Single submitter ⚠
p.Val369Met Single submitter ⚠
p.Val453Leu Single submitter ⚠
p.Val473Leu Single submitter ⚠
p.Val478Ile Single submitter ⚠
p.Val483Ala Single submitter ⚠
p.Val501Met Single submitter ⚠
p.Val522Ile Single submitter ⚠
p.Val535Gly Single submitter ⚠
p.Val573Met Single submitter ⚠