APBB1IP — 94 ClinVar variants

All ClinVar germline APBB1IP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 85 flagged for review →

4 Benign · 6 Likely benign · 84 Uncertain significance

Full APBB1IP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 85

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 42

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

Predictors split 43

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

All APBB1IP variants

Benign 4

p.Ala617Thr Multiple submitters
p.Ala622Val Multiple submitters
p.Arg429Trp Multiple submitters ⚠
p.Phe208= Multiple submitters

Likely benign 6

p.Ala166= Single submitter
p.Asp615Glu Single submitter
p.Gly641Ser Single submitter
p.Ile308Val Single submitter
p.Ser666= Single submitter
p.Thr473Ala Single submitter

Uncertain significance 84

p.Ala118Pro Single submitter ⚠
p.Ala354Val Single submitter ⚠
p.Ala41Thr Single submitter ⚠
p.Ala504Val Single submitter ⚠
p.Ala609Val Single submitter ⚠
p.Arg439Gln Single submitter ⚠
p.Arg439Trp Single submitter ⚠
p.Arg507Gln Single submitter ⚠
p.Arg507Gly Single submitter ⚠
p.Arg618Ser Single submitter ⚠
p.Asn187Lys Single submitter ⚠
p.Asn216Ser Single submitter ⚠
p.Asn272Ser Single submitter ⚠
p.Asn291Lys Single submitter ⚠
p.Asn291Thr Single submitter ⚠
p.Asn447Asp Single submitter ⚠
p.Asn447Ser Single submitter ⚠
p.Asp51Glu Single submitter ⚠
p.Asp552His Single submitter ⚠
p.Asp74Asn Single submitter ⚠
p.Asp74Gly Single submitter ⚠
p.Gln151Arg Single submitter ⚠
p.Glu360Ala Single submitter ⚠
p.Glu3Val Single submitter ⚠
p.Glu79Gln Single submitter ⚠
p.Glu88Lys Single submitter ⚠
p.Gly461Asp Single submitter ⚠
p.Gly461Ser Single submitter ⚠
p.Gly646Arg Single submitter ⚠
p.His474Asn Single submitter ⚠
p.His510Pro Single submitter ⚠
p.Ile103Val Single submitter ⚠
p.Ile308Thr Single submitter ⚠
p.Ile83Met Single submitter ⚠
p.Ile83Phe Single submitter ⚠
p.Ile8Val Single submitter ⚠
p.Leu299Pro Single submitter ⚠
p.Leu568Phe Single submitter ⚠
p.Leu598Arg Single submitter ⚠
p.Leu598Val Single submitter ⚠
p.Leu59Pro Single submitter ⚠
p.Lys174Asn Single submitter ⚠
p.Met11Ile Single submitter ⚠
p.Met184Thr Single submitter ⚠
p.Met193Lys Single submitter ⚠
p.Met576Thr Single submitter ⚠
p.Phe233Leu Single submitter ⚠
p.Phe234Ile Single submitter ⚠
p.Phe43Leu Single submitter ⚠
p.Phe553Ile Single submitter ⚠
p.Phe553Ser Single submitter ⚠
p.Pro143Arg Single submitter ⚠
p.Pro226Leu Single submitter ⚠
p.Pro33Leu Single submitter ⚠
p.Pro39Ser Single submitter ⚠
p.Pro451Thr Single submitter ⚠
p.Pro454Leu Single submitter ⚠
p.Pro509Leu Single submitter ⚠
p.Pro512Ala Single submitter ⚠
p.Pro512Leu Single submitter ⚠
p.Pro517Thr Single submitter ⚠
p.Pro521Leu Single submitter ⚠
p.Pro532Ser Single submitter ⚠
p.Pro560Leu Single submitter ⚠
p.Pro569Ser Single submitter ⚠
p.Pro570Leu Single submitter ⚠
p.Pro579Ala Single submitter ⚠
p.Pro587Ala Single submitter ⚠
p.Pro599Ser Single submitter ⚠
p.Pro603Leu Single submitter ⚠
p.Pro627Leu Single submitter ⚠
p.Pro631Ala Single submitter ⚠
p.Pro631His Single submitter ⚠
p.Pro631Ser Single submitter ⚠
p.Ser297Phe Single submitter ⚠
p.Ser438Pro Single submitter ⚠
p.Ser589Leu Single submitter ⚠
p.Thr251Ala Single submitter ⚠
p.Thr286Ser Single submitter ⚠
p.Thr463Ile Single submitter ⚠
p.Thr528Ile Single submitter ⚠
p.Tyr380Cys Single submitter ⚠
p.Tyr398Phe Single submitter ⚠
p.Tyr45Asp Single submitter ⚠