ATP4B — 56 ClinVar variants
All ClinVar germline ATP4B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 50 flagged for review →
6 Likely benign · 50 Uncertain significance
Full ATP4B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 50
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 29
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ATP4B p.Ala166Glu Uncertain significance Single submitter
- ATP4B p.Ala260Thr Uncertain significance Single submitter
- ATP4B p.Ala2Val Uncertain significance Single submitter
- ATP4B p.Arg13Ser Uncertain significance Single submitter
- ATP4B p.Arg143Cys Uncertain significance Single submitter
- ATP4B p.Arg143His Uncertain significance Single submitter
- ATP4B p.Arg208His Uncertain significance Single submitter
- ATP4B p.Arg78Trp Uncertain significance Single submitter
- ATP4B p.Asp108Glu Uncertain significance Single submitter
- ATP4B p.Cys162Tyr Uncertain significance Single submitter
- ATP4B p.Gln238Glu Uncertain significance Single submitter
- ATP4B p.Glu209Lys Uncertain significance Single submitter
- ATP4B p.Gly194Asp Uncertain significance Single submitter
- ATP4B p.Gly211Ser Uncertain significance Single submitter
- ATP4B p.His269Gln Uncertain significance Single submitter
- ATP4B p.Leu250Phe Uncertain significance Single submitter
- ATP4B p.Lys176Arg Uncertain significance Single submitter
- ATP4B p.Lys217Arg Uncertain significance Single submitter
- ATP4B p.Lys236Glu Uncertain significance Single submitter
- ATP4B p.Lys286Arg Uncertain significance Single submitter
- ATP4B p.Met14Val Uncertain significance Single submitter
- ATP4B p.Met63Val Uncertain significance Single submitter
- ATP4B p.Phe17Ser Uncertain significance Single submitter
- ATP4B p.Phe47Leu Uncertain significance Single submitter
- ATP4B p.Pro221Arg Uncertain significance Single submitter
- ATP4B p.Tyr120Asn Uncertain significance Single submitter
- ATP4B p.Tyr69His Uncertain significance Single submitter
- ATP4B p.Val100Ala Uncertain significance Single submitter
- ATP4B p.Val270Met Uncertain significance Single submitter
Predictors split 21
The independent predictors disagree with each other — read with care.
- ATP4B p.Arg13Cys Uncertain significance Single submitter
- ATP4B p.Asp25Gly Uncertain significance Single submitter
- ATP4B p.Gln74Glu Uncertain significance Single submitter
- ATP4B p.Gly223Ser Uncertain significance Single submitter
- ATP4B p.Ile289Phe Uncertain significance Single submitter
- ATP4B p.Ile96Met Uncertain significance Single submitter
- ATP4B p.Leu287Phe Uncertain significance Single submitter
- ATP4B p.Met183Ile Uncertain significance Single submitter
- ATP4B p.Phe142Val Uncertain significance Single submitter
- ATP4B p.Pro213Leu Uncertain significance Single submitter
- ATP4B p.Pro24Leu Uncertain significance Single submitter
- ATP4B p.Pro254Ser Uncertain significance Single submitter
- ATP4B p.Ser121Phe Uncertain significance Single submitter
- ATP4B p.Ser195Leu Uncertain significance Single submitter
- ATP4B p.Thr132Ile Uncertain significance Single submitter
- ATP4B p.Thr155Met Uncertain significance Single submitter
- ATP4B p.Thr26Met Uncertain significance Single submitter
- ATP4B p.Thr83Asn Uncertain significance Single submitter
- ATP4B p.Tyr60Cys Uncertain significance Single submitter
- ATP4B p.Tyr60His Uncertain significance Single submitter
- ATP4B p.Val199Met Uncertain significance Single submitter
All ATP4B variants
Likely benign 6
- p.Ala115Thr Single submitter
- p.Ala166Val Single submitter
- p.Ala202Thr Single submitter
- p.Ala257Thr Single submitter
- p.Arg255Lys Single submitter
- p.Gly194Ser Single submitter
Uncertain significance 50
- p.Ala166Glu Single submitter ⚠
- p.Ala260Thr Single submitter ⚠
- p.Ala2Val Single submitter ⚠
- p.Arg13Cys Single submitter ⚠
- p.Arg13Ser Single submitter ⚠
- p.Arg143Cys Single submitter ⚠
- p.Arg143His Single submitter ⚠
- p.Arg208His Single submitter ⚠
- p.Arg78Trp Single submitter ⚠
- p.Asp108Glu Single submitter ⚠
- p.Asp25Gly Single submitter ⚠
- p.Cys162Tyr Single submitter ⚠
- p.Gln238Glu Single submitter ⚠
- p.Gln74Glu Single submitter ⚠
- p.Glu209Lys Single submitter ⚠
- p.Gly194Asp Single submitter ⚠
- p.Gly211Ser Single submitter ⚠
- p.Gly223Ser Single submitter ⚠
- p.His269Gln Single submitter ⚠
- p.Ile289Phe Single submitter ⚠
- p.Ile96Met Single submitter ⚠
- p.Leu250Phe Single submitter ⚠
- p.Leu287Phe Single submitter ⚠
- p.Lys176Arg Single submitter ⚠
- p.Lys217Arg Single submitter ⚠
- p.Lys236Glu Single submitter ⚠
- p.Lys286Arg Single submitter ⚠
- p.Met14Val Single submitter ⚠
- p.Met183Ile Single submitter ⚠
- p.Met63Val Single submitter ⚠
- p.Phe142Val Single submitter ⚠
- p.Phe17Ser Single submitter ⚠
- p.Phe47Leu Single submitter ⚠
- p.Pro213Leu Single submitter ⚠
- p.Pro221Arg Single submitter ⚠
- p.Pro24Leu Single submitter ⚠
- p.Pro254Ser Single submitter ⚠
- p.Ser121Phe Single submitter ⚠
- p.Ser195Leu Single submitter ⚠
- p.Thr132Ile Single submitter ⚠
- p.Thr155Met Single submitter ⚠
- p.Thr26Met Single submitter ⚠
- p.Thr83Asn Single submitter ⚠
- p.Tyr120Asn Single submitter ⚠
- p.Tyr60Cys Single submitter ⚠
- p.Tyr60His Single submitter ⚠
- p.Tyr69His Single submitter ⚠
- p.Val100Ala Single submitter ⚠
- p.Val199Met Single submitter ⚠
- p.Val270Met Single submitter ⚠