ATPSCKMT — 39 ClinVar variants
All ClinVar germline ATPSCKMT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 33 flagged for review →
2 Likely benign · 37 Uncertain significance
Full ATPSCKMT gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 33
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 30
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ATPSCKMT p.Ala53Gly Uncertain significance Single submitter
- ATPSCKMT p.Arg132Gln Uncertain significance Single submitter
- ATPSCKMT p.Arg182Pro Uncertain significance Single submitter
- ATPSCKMT p.Arg187Gln Uncertain significance Single submitter
- ATPSCKMT p.Arg187Trp Uncertain significance Single submitter
- ATPSCKMT p.Arg217Leu Uncertain significance Single submitter
- ATPSCKMT p.Asn29Ser Uncertain significance Single submitter
- ATPSCKMT p.Gln164Glu Uncertain significance Single submitter
- ATPSCKMT p.Glu10Lys Uncertain significance Single submitter
- ATPSCKMT p.Glu117Val Uncertain significance Single submitter
- ATPSCKMT p.Glu2Lys Uncertain significance Single submitter
- ATPSCKMT p.His226Pro Uncertain significance Single submitter
- ATPSCKMT p.Ile102Val Uncertain significance Single submitter
- ATPSCKMT p.Ile95Val Uncertain significance Single submitter
- ATPSCKMT p.Leu167Val Uncertain significance Single submitter
- ATPSCKMT p.Leu31Phe Uncertain significance Single submitter
- ATPSCKMT p.Phe160Val Uncertain significance Single submitter
- ATPSCKMT p.Pro72Ser Uncertain significance Single submitter
- ATPSCKMT p.Ser152Pro Uncertain significance Single submitter
- ATPSCKMT p.Ser155Leu Uncertain significance Single submitter
- ATPSCKMT p.Ser16Gly Uncertain significance Single submitter
- ATPSCKMT p.Ser224Leu Uncertain significance Single submitter
- ATPSCKMT p.Ser224Trp Uncertain significance Single submitter
- ATPSCKMT p.Thr60Met Uncertain significance Single submitter
- ATPSCKMT p.Trp193Cys Uncertain significance Single submitter
- ATPSCKMT p.Tyr209Cys Uncertain significance Single submitter
- ATPSCKMT p.Val183Ile Uncertain significance Single submitter
- ATPSCKMT p.Val198Ile Uncertain significance Single submitter
- ATPSCKMT p.Val21Ile Uncertain significance Single submitter
- ATPSCKMT p.Val21Phe Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All ATPSCKMT variants
Likely benign 2
- p.Arg182Ter Single submitter
- p.Arg86Gln Single submitter
Uncertain significance 37
- p.Ala139Val Single submitter ⚠
- p.Ala53Gly Single submitter ⚠
- p.Arg101Cys Single submitter
- p.Arg129Cys Single submitter ⚠
- p.Arg129His Single submitter ⚠
- p.Arg132Gln Single submitter ⚠
- p.Arg182Gly Single submitter
- p.Arg182Pro Single submitter ⚠
- p.Arg187Gln Single submitter ⚠
- p.Arg187Trp Single submitter ⚠
- p.Arg217Leu Single submitter ⚠
- p.Asn29Ser Single submitter ⚠
- p.Asp210Gly Single submitter
- p.Gln164Glu Single submitter ⚠
- p.Glu10Lys Single submitter ⚠
- p.Glu117Val Single submitter ⚠
- p.Glu2Lys Single submitter ⚠
- p.His226Pro Single submitter ⚠
- p.Ile102Val Single submitter ⚠
- p.Ile95Val Single submitter ⚠
- p.Leu167Val Single submitter ⚠
- p.Leu31Phe Single submitter ⚠
- p.Phe160Val Single submitter ⚠
- p.Pro57Leu Single submitter
- p.Pro72Ser Single submitter ⚠
- p.Ser152Pro Single submitter ⚠
- p.Ser155Leu Single submitter ⚠
- p.Ser16Gly Single submitter ⚠
- p.Ser224Leu Single submitter ⚠
- p.Ser224Trp Single submitter ⚠
- p.Thr60Met Single submitter ⚠
- p.Trp193Cys Single submitter ⚠
- p.Tyr209Cys Single submitter ⚠
- p.Val183Ile Single submitter ⚠
- p.Val198Ile Single submitter ⚠
- p.Val21Ile Single submitter ⚠
- p.Val21Phe Single submitter ⚠