AP5B1 — 156 ClinVar variants

All ClinVar germline AP5B1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 140 flagged for review →

1 Pathogenic · 3 Likely pathogenic · 13 Likely benign · 139 Uncertain significance

Full AP5B1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 140

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 62

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

Predictors split 78

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

All AP5B1 variants

Pathogenic 1

p.Arg731Ter Single submitter AP5B1-associated macular dystrophy

Likely pathogenic 3

p.Arg155Ter Single submitter Macular dystrophy with or without extraocular features
p.Gln288fs Single submitter Macular dystrophy with or without extraocular features
p.Leu104fs Single submitter Macular dystrophy with or without extraocular features

Likely benign 13

p.Ala345= Multiple submitters
p.Ala563= Single submitter
p.Ala686Val Single submitter ⚠
p.Ala736Thr Single submitter
p.Ala867Val Single submitter
p.Arg119= Single submitter
p.Arg257Leu Single submitter
p.Arg737Gln Single submitter
p.Asp506= Single submitter
p.His741Arg Single submitter
p.Ile690Val Single submitter
p.Lys681Gln Single submitter
p.Ser253Gly Single submitter

Uncertain significance 139

p.Leu401Phe Multiple submitters hereditary spastic paraplegia ⚠
p.Ala192Val Single submitter ⚠
p.Ala239Val Single submitter ⚠
p.Ala285Ser Single submitter ⚠
p.Ala326Thr Single submitter ⚠
p.Ala354Val Single submitter ⚠
p.Ala424Val Single submitter ⚠
p.Ala452Val Single submitter ⚠
p.Ala563Val Single submitter ⚠
p.Ala582Gly Single submitter ⚠
p.Ala612Thr Single submitter ⚠
p.Ala620Pro Single submitter ⚠
p.Ala62Val Single submitter ⚠
p.Ala630Thr Single submitter ⚠
p.Ala639Thr Single submitter ⚠
p.Ala709Pro Single submitter ⚠
p.Ala734Val Single submitter ⚠
p.Ala742Val Single submitter ⚠
p.Ala846Val Single submitter ⚠
p.Ala862Ser Single submitter ⚠
p.Arg202Trp Single submitter ⚠
p.Arg252Pro Single submitter ⚠
p.Arg298Pro Single submitter ⚠
p.Arg350Gln Single submitter ⚠
p.Arg350Gly Single submitter ⚠
p.Arg399Cys Single submitter ⚠
p.Arg415Cys Single submitter ⚠
p.Arg438Gly Single submitter ⚠
p.Arg451Trp Single submitter ⚠
p.Arg459Gln Single submitter ⚠
p.Arg459Gly Single submitter ⚠
p.Arg497Trp Single submitter ⚠
p.Arg524Trp Single submitter ⚠
p.Arg581Gln Single submitter ⚠
p.Arg581Trp Single submitter ⚠
p.Arg585Gln Single submitter ⚠
p.Arg585Trp Single submitter ⚠
p.Arg609Cys Single submitter ⚠
p.Arg613His Single submitter ⚠
p.Arg665Trp Single submitter ⚠
p.Arg696His Single submitter ⚠
p.Arg696Pro Single submitter ⚠
p.Arg698His Single submitter ⚠
p.Arg722Cys Single submitter ⚠
p.Arg731Gln Single submitter ⚠
p.Arg797His Single submitter ⚠
p.Arg813Cys Single submitter ⚠
p.Arg857Trp Single submitter ⚠
p.Arg872His Single submitter ⚠
p.Arg94Trp Single submitter ⚠
p.Asp276Gly Single submitter ⚠
p.Asp512Glu Single submitter ⚠
p.Asp594Asn Single submitter ⚠
p.Asp594Glu Single submitter ⚠
p.Gln286Arg Single submitter ⚠
p.Gln597His Single submitter hereditary spastic paraplegia ⚠
p.Gln649Glu Single submitter ⚠
p.Glu142Gln Single submitter ⚠
p.Glu430Lys Single submitter ⚠
p.Glu517Lys Single submitter ⚠
p.Glu685Gly Single submitter ⚠
p.Glu688Gly Single submitter ⚠
p.Glu694Asp Single submitter ⚠
p.Glu700Lys Single submitter ⚠
p.Glu845Gln Single submitter ⚠
p.Gly170Glu Single submitter ⚠
p.Gly208Arg Single submitter ⚠
p.Gly209Val Single submitter ⚠
p.Gly220Asp Single submitter ⚠
p.Gly231Ser Single submitter ⚠
p.Gly299Asp Single submitter ⚠
p.Gly299Val Single submitter ⚠
p.Gly385Asp Single submitter ⚠
p.Gly432Asp Single submitter ⚠
p.Gly447Ala Single submitter ⚠
p.Gly489Arg Single submitter ⚠
p.Gly575Val Single submitter ⚠
p.Gly591Ser Single submitter ⚠
p.His357Gln Single submitter ⚠
p.His365Tyr Single submitter ⚠
p.His407Arg Single submitter ⚠
p.His540Tyr Single submitter ⚠
p.Ile690Leu Single submitter ⚠
p.Leu120Phe Single submitter ⚠
p.Leu164Pro Single submitter ⚠
p.Leu171Trp Single submitter ⚠
p.Leu328Val Single submitter ⚠
p.Leu351Phe Single submitter ⚠
p.Leu392Pro Single submitter ⚠
p.Leu603Val Single submitter ⚠
p.Leu715Val Single submitter ⚠
p.Leu785Phe Single submitter ⚠
p.Leu785Pro Single submitter AP5B1-associated macular dystrophy ⚠
p.Leu848Val Single submitter ⚠
p.Leu866Val Single submitter ⚠
p.Leu98Gln Single submitter ⚠
p.Lys309Gln Single submitter ⚠
p.Lys431Glu Single submitter ⚠
p.Met410Ile Single submitter ⚠
p.Phe697Leu Single submitter hereditary spastic paraplegia ⚠
p.Phe781Cys Single submitter ⚠
p.Phe781Leu Single submitter ⚠
p.Pro139Leu Single submitter ⚠
p.Pro145Ser Single submitter ⚠
p.Pro243Ser Single submitter ⚠
p.Pro383Ser Single submitter ⚠
p.Pro518Leu Single submitter ⚠
p.Pro531Leu Single submitter ⚠
p.Pro61Thr Single submitter ⚠
p.Pro689Ala Single submitter ⚠
p.Pro758His Single submitter ⚠
p.Pro774Leu Single submitter ⚠
p.Pro835Ser Single submitter ⚠
p.Pro836Leu Single submitter ⚠
p.Pro865Leu Single submitter ⚠
p.Pro86Ser Single submitter ⚠
p.Pro87Leu Single submitter ⚠
p.Pro89Ser Single submitter ⚠
p.Ser186Asn Single submitter ⚠
p.Ser404Asn Single submitter ⚠
p.Ser469Leu Single submitter ⚠
p.Ser634Leu Single submitter ⚠
p.Ser69Phe Single submitter ⚠
p.Ser827Gly Single submitter ⚠
p.Thr218Asn Single submitter ⚠
p.Thr282Ile Single submitter ⚠
p.Thr481Met Single submitter ⚠
p.Thr484Asn Single submitter ⚠
p.Thr568Met Single submitter ⚠
p.Thr745Ile Single submitter ⚠
p.Thr746Ala Single submitter ⚠
p.Tyr279His Single submitter ⚠
p.Tyr870Cys Single submitter ⚠
p.Val527Ala Single submitter ⚠
p.Val673Ile Single submitter ⚠
p.Val740Gly Single submitter ⚠
p.Val740Ile Single submitter ⚠
p.Val761Met Single submitter ⚠
p.Val863Met Single submitter ⚠