AP1B1 — 168 ClinVar variants
All ClinVar germline AP1B1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 99 flagged for review →
10 Pathogenic · 2 Likely pathogenic · 24 Benign · 28 Likely benign · 104 Uncertain significance
Full AP1B1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 99
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 74
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
AP1B1 p.Gly568Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AP1B1 p.Ala254Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Ala410Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Ala598Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Ala689Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Ala693Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Ala755Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Ala783Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Arg304His
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Arg344His
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Arg375Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Arg379Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Arg390Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Arg520Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Arg522Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Arg596His
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Asn350Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Asn350His
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Asn690Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- AP1B1 p.Asn753Lys Uncertain significance Single submitter
-
AP1B1 p.Asn881Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Asp198Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Asp3Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Asp513Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Asp631Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Asp748Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Asp761Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Cys129Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- AP1B1 p.Glu213Lys Uncertain significance Single submitter
-
AP1B1 p.Glu556Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Gly585Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Gly616Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Gly638Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Gly662Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Gly676Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Gly696Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Gly743Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Gly905Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Gly905Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.His832Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Ile734Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Leu165Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Leu223Pro
Uncertain significance
Single submitter
ichthyosiform erythroderma, corneal involvement, and hearing loss
-
AP1B1 p.Leu292Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Leu68Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Leu779Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Leu831Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Leu900Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Met269Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Met895Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Phe771Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Pro125Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Pro610Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Pro614Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Pro867Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Ser193Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- AP1B1 p.Ser194Asn Uncertain significance Single submitter
-
AP1B1 p.Ser271Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Ser579Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Ser875Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Ser879Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Ser927Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Thr597Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Thr597Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Thr706Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Thr739Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Thr922Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Tyr405His
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Val412Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Val709Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Val742Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Val908Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Gly643Ser
Uncertain significance
No assertion criteria
AP1B1-related disorder
- AP1B1 p.Ser427Ile Uncertain significance No assertion criteria
Predictors split 25
The independent predictors disagree with each other — read with care.
-
AP1B1 p.Asp234Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AP1B1 p.Ala352Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Arg458Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Arg768His
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Arg913Gln
Likely benign
Single submitter
Inborn genetic diseases
-
AP1B1 p.Arg931Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Asn152Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Asn179Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Asn307Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Asn62Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Asp821Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Glu189Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Gly584Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Leu196Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Leu270Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Lys887Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Pro640Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Pro796Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Thr363Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Val145Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Val890Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Val908Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Val939Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
AP1B1 p.Arg235His
Likely benign
No assertion criteria
AP1B1-related disorder
-
AP1B1 p.Ser579Gly
Likely benign
No assertion criteria
AP1B1-related disorder
All AP1B1 variants
Pathogenic 10
- p.Leu288fs Single submitter
- c.38-1G>A No assertion criteria ichthyosiform erythroderma, corneal involvement, and hearing loss
- p.Arg108Trp No assertion criteria ichthyosiform erythroderma, corneal involvement, and hearing loss
- p.Cys144Arg No assertion criteria ichthyosiform erythroderma, corneal involvement, and hearing loss
- p.Gln618Ter No assertion criteria ichthyosiform erythroderma, corneal involvement, and hearing loss
- p.Gln893Ter No assertion criteria ichthyosiform erythroderma, corneal involvement, and hearing loss
- p.Glu792Ter No assertion criteria ichthyosiform erythroderma, corneal involvement, and hearing loss
- p.Leu223fs No assertion criteria ichthyosiform erythroderma, corneal involvement, and hearing loss
- p.Leu779fs No assertion criteria ichthyosiform erythroderma, corneal involvement, and hearing loss
- p.Tyr421Ter No assertion criteria ichthyosiform erythroderma, corneal involvement, and hearing loss
Likely pathogenic 2
- p.Gly523fs Single submitter ichthyosiform erythroderma, corneal involvement, and hearing loss
- p.Met1Thr Single submitter ichthyosiform erythroderma, corneal involvement, and hearing loss
Benign 24
- c.1060-157T>G Multiple submitters
- c.1156-114A>G Multiple submitters
- c.143+27C>A Multiple submitters
- c.1438-174G>A Multiple submitters
- c.1537-39C>G Multiple submitters
- c.1537-74A>G Multiple submitters
- c.2019+96G>A Multiple submitters
- c.2163+182C>T Multiple submitters
- c.2163+27G>A Multiple submitters
- c.2164-226T>C Multiple submitters
- c.38-93G>C Multiple submitters
- c.*146C>T Multiple submitters
- c.*18A>G Multiple submitters
- p.Ala783= Multiple submitters ichthyosiform erythroderma, corneal involvement, and hearing loss
- p.Gly661= Multiple submitters
- p.Leu68= Multiple submitters ichthyosiform erythroderma, corneal involvement, and hearing loss
- c.143+173T>C Single submitter
- c.1437+130G>A Single submitter
- c.1437+175A>C Single submitter
- c.2020-188G>A Single submitter
- c.526-180T>C Single submitter
- c.717-170C>G Single submitter
- c.-27-192G>A Single submitter
- c.-27-74TCC[3] Single submitter
Likely benign 28
- c.1536+20C>T Single submitter
- c.279+16G>A Single submitter
- c.37+17A>C Single submitter
- c.938+19G>A Single submitter
- p.Ala446Thr Single submitter Inborn genetic diseases
- p.Ala603Thr Single submitter Inborn genetic diseases
- p.Ala873Val Single submitter Inborn genetic diseases
- p.Arg913Gln Single submitter Inborn genetic diseases ⚠
- p.Asn152= Single submitter Inborn genetic diseases
- p.Gly660= Single submitter
- p.Ile411= Single submitter
- p.Leu712= Single submitter
- p.Phe325= Single submitter
- p.Thr739= Single submitter
- p.Tyr229= Single submitter
- p.Tyr300= Single submitter
- p.Val255= Single submitter
- c.2164-8C>T No assertion criteria AP1B1-related disorder
- c.2309+8C>T No assertion criteria AP1B1-related disorder
- c.2524+5G>A No assertion criteria AP1B1-related disorder
- c.*7G>A No assertion criteria AP1B1-related disorder
- p.Ala373= No assertion criteria AP1B1-related disorder
- p.Ala609= No assertion criteria AP1B1-related disorder
- p.Ala87= No assertion criteria AP1B1-related disorder
- p.Arg235His No assertion criteria AP1B1-related disorder ⚠
- p.Asn329= No assertion criteria AP1B1-related disorder
- p.Ser579Gly No assertion criteria AP1B1-related disorder ⚠
- p.Val589Met No assertion criteria AP1B1-related disorder
Uncertain significance 104
- p.Asp234Asn Multiple submitters Inborn genetic diseases ⚠
- p.Gly568Ser Multiple submitters Inborn genetic diseases ⚠
- c.2310-3C>G Single submitter Inborn genetic diseases
- c.2524_2524+3dup Single submitter
- p.Ala254Thr Single submitter Inborn genetic diseases ⚠
- p.Ala352Thr Single submitter Inborn genetic diseases ⚠
- p.Ala410Thr Single submitter Inborn genetic diseases ⚠
- p.Ala598Val Single submitter Inborn genetic diseases ⚠
- p.Ala689Pro Single submitter Inborn genetic diseases ⚠
- p.Ala693Val Single submitter Inborn genetic diseases ⚠
- p.Ala755Ser Single submitter Inborn genetic diseases ⚠
- p.Ala783Thr Single submitter Inborn genetic diseases ⚠
- p.Arg304His Single submitter Inborn genetic diseases ⚠
- p.Arg344His Single submitter Inborn genetic diseases ⚠
- p.Arg375Gly Single submitter Inborn genetic diseases ⚠
- p.Arg379Cys Single submitter Inborn genetic diseases ⚠
- p.Arg390Cys Single submitter Inborn genetic diseases ⚠
- p.Arg458Gln Single submitter Inborn genetic diseases ⚠
- p.Arg520Gln Single submitter Inborn genetic diseases ⚠
- p.Arg522Gly Single submitter Inborn genetic diseases ⚠
- p.Arg596His Single submitter Inborn genetic diseases ⚠
- p.Arg768His Single submitter Inborn genetic diseases ⚠
- p.Arg931Gln Single submitter Inborn genetic diseases ⚠
- p.Asn152Ser Single submitter Inborn genetic diseases ⚠
- p.Asn179Ser Single submitter Inborn genetic diseases ⚠
- p.Asn307Ser Single submitter Inborn genetic diseases ⚠
- p.Asn350Asp Single submitter Inborn genetic diseases ⚠
- p.Asn350His Single submitter Inborn genetic diseases ⚠
- p.Asn62Ser Single submitter Inborn genetic diseases ⚠
- p.Asn690Ile Single submitter Inborn genetic diseases ⚠
- p.Asn753Lys Single submitter ⚠
- p.Asn819del Single submitter Inborn genetic diseases
- p.Asn881Ser Single submitter Inborn genetic diseases ⚠
- p.Asp198Asn Single submitter Inborn genetic diseases ⚠
- p.Asp3Gly Single submitter Inborn genetic diseases ⚠
- p.Asp513Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp631Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp748Glu Single submitter Inborn genetic diseases ⚠
- p.Asp761Asn Single submitter Inborn genetic diseases ⚠
- p.Asp821Asn Single submitter Inborn genetic diseases ⚠
- p.Cys129Ser Single submitter Inborn genetic diseases ⚠
- p.Gln479Ter Single submitter
- p.Glu189Gln Single submitter Inborn genetic diseases ⚠
- p.Glu213Lys Single submitter ⚠
- p.Glu556Lys Single submitter Inborn genetic diseases ⚠
- p.Gly584Arg Single submitter Inborn genetic diseases ⚠
- p.Gly585Ala Single submitter Inborn genetic diseases ⚠
- p.Gly616Trp Single submitter Inborn genetic diseases ⚠
- p.Gly638Ser Single submitter Inborn genetic diseases ⚠
- p.Gly662Ser Single submitter Inborn genetic diseases ⚠
- p.Gly676Val Single submitter Inborn genetic diseases ⚠
- p.Gly696Ser Single submitter Inborn genetic diseases ⚠
- p.Gly743Asp Single submitter Inborn genetic diseases ⚠
- p.Gly905Arg Single submitter Inborn genetic diseases ⚠
- p.Gly905Ser Single submitter Inborn genetic diseases ⚠
- p.His832Asn Single submitter Inborn genetic diseases ⚠
- p.Ile734Met Single submitter Inborn genetic diseases ⚠
- p.Ile764= Single submitter
- p.Leu165Phe Single submitter Inborn genetic diseases ⚠
- p.Leu196Arg Single submitter Inborn genetic diseases ⚠
- p.Leu223Pro Single submitter ichthyosiform erythroderma, corneal involvement, and hearing loss ⚠
- p.Leu270Phe Single submitter Inborn genetic diseases ⚠
- p.Leu292Gln Single submitter Inborn genetic diseases ⚠
- p.Leu68Arg Single submitter Inborn genetic diseases ⚠
- p.Leu779Val Single submitter Inborn genetic diseases ⚠
- p.Leu831Gln Single submitter Inborn genetic diseases ⚠
- p.Leu900Val Single submitter Inborn genetic diseases ⚠
- p.Lys887Arg Single submitter Inborn genetic diseases ⚠
- p.Met269Leu Single submitter Inborn genetic diseases ⚠
- p.Met895Val Single submitter Inborn genetic diseases ⚠
- p.Phe771Leu Single submitter Inborn genetic diseases ⚠
- p.Pro125Arg Single submitter Inborn genetic diseases ⚠
- p.Pro610Ala Single submitter Inborn genetic diseases ⚠
- p.Pro614Ser Single submitter Inborn genetic diseases ⚠
- p.Pro640Thr Single submitter Inborn genetic diseases ⚠
- p.Pro778Arg Single submitter Inborn genetic diseases
- p.Pro796Arg Single submitter Inborn genetic diseases ⚠
- p.Pro867Arg Single submitter Inborn genetic diseases ⚠
- p.Ser193Asn Single submitter Inborn genetic diseases ⚠
- p.Ser194Asn Single submitter ⚠
- p.Ser271Thr Single submitter Inborn genetic diseases ⚠
- p.Ser579Asn Single submitter Inborn genetic diseases ⚠
- p.Ser875Ile Single submitter Inborn genetic diseases ⚠
- p.Ser879Gly Single submitter Inborn genetic diseases ⚠
- p.Ser927Thr Single submitter Inborn genetic diseases ⚠
- p.Thr363Ala Single submitter Inborn genetic diseases ⚠
- p.Thr569Met Single submitter Inborn genetic diseases
- p.Thr597Ala Single submitter Inborn genetic diseases ⚠
- p.Thr597Met Single submitter Inborn genetic diseases ⚠
- p.Thr706Ile Single submitter Inborn genetic diseases ⚠
- p.Thr739Ile Single submitter Inborn genetic diseases ⚠
- p.Thr922Met Single submitter Inborn genetic diseases ⚠
- p.Tyr405His Single submitter Inborn genetic diseases ⚠
- p.Val145Met Single submitter Inborn genetic diseases ⚠
- p.Val176= Single submitter ichthyosiform erythroderma, corneal involvement, and hearing loss
- p.Val412Met Single submitter Inborn genetic diseases ⚠
- p.Val709Met Single submitter Inborn genetic diseases ⚠
- p.Val742Leu Single submitter Inborn genetic diseases ⚠
- p.Val890Met Single submitter Inborn genetic diseases ⚠
- p.Val908Leu Single submitter Inborn genetic diseases ⚠
- p.Val908Met Single submitter Inborn genetic diseases ⚠
- p.Val939Met Single submitter Inborn genetic diseases ⚠
- p.Gly643Ser No assertion criteria AP1B1-related disorder ⚠
- p.Ser427Ile No assertion criteria ⚠