AP5M1 — 64 ClinVar variants
All ClinVar germline AP5M1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 59 flagged for review →
2 Likely pathogenic · 3 Likely benign · 59 Uncertain significance
Full AP5M1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 59
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 38
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AP5M1 p.Arg119His Uncertain significance Single submitter
- AP5M1 p.Arg33Gln Uncertain significance Single submitter
- AP5M1 p.Arg465Gln Uncertain significance Single submitter
- AP5M1 p.Arg4Trp Uncertain significance Single submitter
- AP5M1 p.Arg77Cys Uncertain significance Single submitter
- AP5M1 p.Asp182Asn Uncertain significance Single submitter
- AP5M1 p.Asp223Gly Uncertain significance Single submitter
- AP5M1 p.Cys108Tyr Uncertain significance Single submitter
- AP5M1 p.Glu383Gly Uncertain significance Single submitter
- AP5M1 p.Gly235Ala Uncertain significance Single submitter
- AP5M1 p.Gly324Ala Uncertain significance Single submitter
- AP5M1 p.Gly425Glu Uncertain significance Single submitter
- AP5M1 p.His269Gln Uncertain significance Single submitter
- AP5M1 p.His357Arg Uncertain significance Single submitter
- AP5M1 p.Ile213Val Uncertain significance Single submitter
- AP5M1 p.Ile388Thr Uncertain significance Single submitter
- AP5M1 p.Ile461Thr Uncertain significance Single submitter
- AP5M1 p.Ile78Val Uncertain significance Single submitter
- AP5M1 p.Leu343Arg Uncertain significance Single submitter
- AP5M1 p.Leu488Val Uncertain significance Single submitter
- AP5M1 p.Lys194Gln Uncertain significance Single submitter
- AP5M1 p.Lys329Thr Uncertain significance Single submitter
- AP5M1 p.Lys478Glu Uncertain significance Single submitter
- AP5M1 p.Met104Val Uncertain significance Single submitter
- AP5M1 p.Met220Val Uncertain significance Single submitter
- AP5M1 p.Pro16Ser Uncertain significance Single submitter
- AP5M1 p.Ser10Arg Uncertain significance Single submitter
- AP5M1 p.Ser76Leu Uncertain significance Single submitter
- AP5M1 p.Thr281Ile Uncertain significance Single submitter
- AP5M1 p.Thr427Ala Uncertain significance Single submitter
- AP5M1 p.Trp7Cys Uncertain significance Single submitter
- AP5M1 p.Tyr222Cys Uncertain significance Single submitter
-
AP5M1 p.Tyr313Cys
Uncertain significance
Single submitter
Macular dystrophy with or without extraocular features
- AP5M1 p.Tyr371Cys Uncertain significance Single submitter
- AP5M1 p.Tyr472Asn Uncertain significance Single submitter
- AP5M1 p.Val268Leu Uncertain significance Single submitter
- AP5M1 p.Val333Ile Uncertain significance Single submitter
- AP5M1 p.Val6Leu Uncertain significance Single submitter
Predictors split 21
The independent predictors disagree with each other — read with care.
- AP5M1 p.Ala446Thr Uncertain significance Single submitter
- AP5M1 p.Ala54Val Uncertain significance Single submitter
- AP5M1 p.Ala5Thr Uncertain significance Single submitter
- AP5M1 p.Ala98Gly Uncertain significance Single submitter
- AP5M1 p.Arg465Trp Uncertain significance Single submitter
- AP5M1 p.Arg60Ile Uncertain significance Single submitter
- AP5M1 p.Asp420Asn Uncertain significance Single submitter
- AP5M1 p.Asp48Asn Uncertain significance Single submitter
- AP5M1 p.Glu352Ala Uncertain significance Single submitter
- AP5M1 p.Glu355Asp Uncertain significance Single submitter
- AP5M1 p.Gly145Val Uncertain significance Single submitter
- AP5M1 p.His449Tyr Uncertain significance Single submitter
- AP5M1 p.Ile83Thr Uncertain significance Single submitter
- AP5M1 p.Lys155Glu Uncertain significance Single submitter
- AP5M1 p.Lys240Glu Uncertain significance Single submitter
- AP5M1 p.Pro318Ser Uncertain significance Single submitter
- AP5M1 p.Ser117Phe Uncertain significance Single submitter
- AP5M1 p.Ser188Tyr Uncertain significance Single submitter
- AP5M1 p.Ser282Tyr Uncertain significance Single submitter
- AP5M1 p.Val43Met Uncertain significance Single submitter
- AP5M1 p.Val69Ala Uncertain significance Single submitter
All AP5M1 variants
Likely pathogenic 2
- p.Arg33Ter Single submitter Macular dystrophy with or without extraocular features
- p.Trp389Ter Single submitter Macular dystrophy with or without extraocular features
Likely benign 3
- p.Arg77His Single submitter
- p.Ile83Val Single submitter
- p.Val125Ile Single submitter
Uncertain significance 59
- p.Ala446Thr Single submitter ⚠
- p.Ala54Val Single submitter ⚠
- p.Ala5Thr Single submitter ⚠
- p.Ala98Gly Single submitter ⚠
- p.Arg119His Single submitter ⚠
- p.Arg33Gln Single submitter ⚠
- p.Arg465Gln Single submitter ⚠
- p.Arg465Trp Single submitter ⚠
- p.Arg4Trp Single submitter ⚠
- p.Arg60Ile Single submitter ⚠
- p.Arg77Cys Single submitter ⚠
- p.Asp182Asn Single submitter ⚠
- p.Asp223Gly Single submitter ⚠
- p.Asp420Asn Single submitter ⚠
- p.Asp48Asn Single submitter ⚠
- p.Cys108Tyr Single submitter ⚠
- p.Glu352Ala Single submitter ⚠
- p.Glu355Asp Single submitter ⚠
- p.Glu383Gly Single submitter ⚠
- p.Gly145Val Single submitter ⚠
- p.Gly235Ala Single submitter ⚠
- p.Gly324Ala Single submitter ⚠
- p.Gly425Glu Single submitter ⚠
- p.His269Gln Single submitter ⚠
- p.His357Arg Single submitter ⚠
- p.His449Tyr Single submitter ⚠
- p.Ile213Val Single submitter ⚠
- p.Ile388Thr Single submitter ⚠
- p.Ile461Thr Single submitter ⚠
- p.Ile78Val Single submitter ⚠
- p.Ile83Thr Single submitter ⚠
- p.Leu343Arg Single submitter ⚠
- p.Leu488Val Single submitter ⚠
- p.Lys155Glu Single submitter ⚠
- p.Lys194Gln Single submitter ⚠
- p.Lys240Glu Single submitter ⚠
- p.Lys329Thr Single submitter ⚠
- p.Lys478Glu Single submitter ⚠
- p.Met104Val Single submitter ⚠
- p.Met220Val Single submitter ⚠
- p.Pro16Ser Single submitter ⚠
- p.Pro318Ser Single submitter ⚠
- p.Ser10Arg Single submitter ⚠
- p.Ser117Phe Single submitter ⚠
- p.Ser188Tyr Single submitter ⚠
- p.Ser282Tyr Single submitter ⚠
- p.Ser76Leu Single submitter ⚠
- p.Thr281Ile Single submitter ⚠
- p.Thr427Ala Single submitter ⚠
- p.Trp7Cys Single submitter ⚠
- p.Tyr222Cys Single submitter ⚠
- p.Tyr313Cys Single submitter Macular dystrophy with or without extraocular features ⚠
- p.Tyr371Cys Single submitter ⚠
- p.Tyr472Asn Single submitter ⚠
- p.Val268Leu Single submitter ⚠
- p.Val333Ile Single submitter ⚠
- p.Val43Met Single submitter ⚠
- p.Val69Ala Single submitter ⚠
- p.Val6Leu Single submitter ⚠