GPKOW — 73 ClinVar variants
All ClinVar germline GPKOW variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 57 flagged for review →
1 Conflicting · 5 Benign · 8 Likely benign · 59 Uncertain significance
Full GPKOW gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 57
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 47
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- GPKOW p.Ala144Thr Uncertain significance Single submitter
- GPKOW p.Ala276Val Uncertain significance Single submitter
- GPKOW p.Ala345Pro Uncertain significance Single submitter
- GPKOW p.Ala345Val Uncertain significance Single submitter
- GPKOW p.Ala350Thr Uncertain significance Single submitter
- GPKOW p.Arg149Trp Uncertain significance Single submitter
- GPKOW p.Arg280Gln Uncertain significance Single submitter
- GPKOW p.Arg290Gln Uncertain significance Single submitter
- GPKOW p.Arg395Gln Uncertain significance Single submitter
- GPKOW p.Arg79Leu Uncertain significance Single submitter
- GPKOW p.Asn188Ser Uncertain significance Single submitter
- GPKOW p.Asn308Ile Uncertain significance Single submitter
- GPKOW p.Asp145Glu Uncertain significance Single submitter
- GPKOW p.Asp303Asn Uncertain significance Single submitter
- GPKOW p.Asp338Tyr Uncertain significance Single submitter
- GPKOW p.Asp361Glu Uncertain significance Single submitter
- GPKOW p.Asp37Glu Uncertain significance Single submitter
- GPKOW p.Asp397Ala Uncertain significance Single submitter
- GPKOW p.Asp474Gly Uncertain significance Single submitter
- GPKOW p.Asp47Glu Uncertain significance Single submitter
- GPKOW p.Asp92Asn Uncertain significance Single submitter
- GPKOW p.Gln294Arg Uncertain significance Single submitter
- GPKOW p.Glu181Lys Uncertain significance Single submitter
- GPKOW p.Glu296Gln Uncertain significance Single submitter
- GPKOW p.Gly141Arg Uncertain significance Single submitter
-
GPKOW p.Gly427Arg
Uncertain significance
Single submitter
holoprosencephaly-hypokinesia-congenital contractures syndrome
- GPKOW p.Gly94Arg Uncertain significance Single submitter
- GPKOW p.Ile19Val Uncertain significance Single submitter
- GPKOW p.Ile382Val Uncertain significance Single submitter
- GPKOW p.Leu447Phe Uncertain significance Single submitter
- GPKOW p.Lys114Thr Uncertain significance Single submitter
- GPKOW p.Met132Val Uncertain significance Single submitter
- GPKOW p.Met171Val Uncertain significance Single submitter
- GPKOW p.Pro139Arg Uncertain significance Single submitter
- GPKOW p.Pro139Ser Uncertain significance Single submitter
- GPKOW p.Pro217Arg Uncertain significance Single submitter
- GPKOW p.Pro415Leu Uncertain significance Single submitter
- GPKOW p.Pro428Ala Uncertain significance Single submitter
- GPKOW p.Ser312Leu Uncertain significance Single submitter
- GPKOW p.Thr12Met Uncertain significance Single submitter
- GPKOW p.Thr210Ile Uncertain significance Single submitter
- GPKOW p.Thr210Pro Uncertain significance Single submitter
- GPKOW p.Thr310Ser Uncertain significance Single submitter
- GPKOW p.Thr391Ala Uncertain significance Single submitter
- GPKOW p.Val124Ile Uncertain significance Single submitter
- GPKOW p.Val195Leu Uncertain significance Single submitter
- GPKOW p.Val249Leu Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- GPKOW p.Ala104Ser Uncertain significance Single submitter
- GPKOW p.Arg185Cys Uncertain significance Single submitter
- GPKOW p.Arg185His Uncertain significance Single submitter
- GPKOW p.Arg274Cys Uncertain significance Single submitter
- GPKOW p.Arg280Trp Uncertain significance Single submitter
- GPKOW p.Arg363His Uncertain significance Single submitter
- GPKOW p.Arg443Trp Uncertain significance Single submitter
- GPKOW p.Phe297Leu Uncertain significance Single submitter
- GPKOW p.Val247Leu Uncertain significance Single submitter
All GPKOW variants
Conflicting classifications of pathogenicity 1
- p.Thr391Ile Single submitter ⚠
Benign 5
- p.Gly143= Multiple submitters
- c.1297-4C>T No assertion criteria GPKOW-related disorder
- c.456+10C>T No assertion criteria GPKOW-related disorder
- p.Arg445= No assertion criteria GPKOW-related disorder
- p.Ser4Cys No assertion criteria GPKOW-related disorder
Likely benign 8
- p.Tyr288Cys Multiple submitters
- c.1211-4A>G Single submitter
- p.Ala122= Single submitter
- p.Ala129Thr Single submitter
- p.Arg222His Single submitter
- p.Arg339Gln Single submitter
- p.Thr51Ile Single submitter
- p.Val425= Single submitter holoprosencephaly-hypokinesia-congenital contractures syndrome
Uncertain significance 59
- p.Ala104Ser Single submitter ⚠
- p.Ala144Thr Single submitter ⚠
- p.Ala166= Single submitter
- p.Ala276Val Single submitter ⚠
- p.Ala345Pro Single submitter ⚠
- p.Ala345Val Single submitter ⚠
- p.Ala350Thr Single submitter ⚠
- p.Arg149Trp Single submitter ⚠
- p.Arg185Cys Single submitter ⚠
- p.Arg185His Single submitter ⚠
- p.Arg255Ter Single submitter
- p.Arg274Cys Single submitter ⚠
- p.Arg280Gln Single submitter ⚠
- p.Arg280Trp Single submitter ⚠
- p.Arg290Gln Single submitter ⚠
- p.Arg363His Single submitter ⚠
- p.Arg395Gln Single submitter ⚠
- p.Arg443Trp Single submitter ⚠
- p.Arg79Leu Single submitter ⚠
- p.Asn188Ser Single submitter ⚠
- p.Asn308Ile Single submitter ⚠
- p.Asp145Glu Single submitter ⚠
- p.Asp303Asn Single submitter ⚠
- p.Asp338Tyr Single submitter ⚠
- p.Asp361Glu Single submitter ⚠
- p.Asp37Glu Single submitter ⚠
- p.Asp397Ala Single submitter ⚠
- p.Asp474Gly Single submitter ⚠
- p.Asp47Glu Single submitter ⚠
- p.Asp92Asn Single submitter ⚠
- p.Gln294Arg Single submitter ⚠
- p.Glu181Lys Single submitter ⚠
- p.Glu296Gln Single submitter ⚠
- p.Gly141Arg Single submitter ⚠
- p.Gly427Arg Single submitter holoprosencephaly-hypokinesia-congenital contractures syndrome ⚠
- p.Gly94Arg Single submitter ⚠
- p.Ile19Val Single submitter ⚠
- p.Ile382Val Single submitter ⚠
- p.Leu447Phe Single submitter ⚠
- p.Lys114Thr Single submitter ⚠
- p.Met132Val Single submitter ⚠
- p.Met171Val Single submitter ⚠
- p.Phe297Leu Single submitter ⚠
- p.Pro139Arg Single submitter ⚠
- p.Pro139Ser Single submitter ⚠
- p.Pro217Arg Single submitter ⚠
- p.Pro415Leu Single submitter ⚠
- p.Pro428Ala Single submitter ⚠
- p.Ser312Leu Single submitter ⚠
- p.Thr12Met Single submitter ⚠
- p.Thr210Ile Single submitter ⚠
- p.Thr210Pro Single submitter ⚠
- p.Thr310Ser Single submitter ⚠
- p.Thr391Ala Single submitter ⚠
- p.Val124Ile Single submitter ⚠
- p.Val195Leu Single submitter ⚠
- p.Val247Leu Single submitter ⚠
- p.Val249Leu Single submitter ⚠
- c.331+5G>A No assertion criteria