GPATCH11 — 42 ClinVar variants
All ClinVar germline GPATCH11 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 37 flagged for review →
4 Pathogenic · 38 Uncertain significance
Full GPATCH11 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 37
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 31
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- GPATCH11 p.Ala146Ser Uncertain significance Single submitter
- GPATCH11 p.Ala36Val Uncertain significance Single submitter
- GPATCH11 p.Ala46Val Uncertain significance Single submitter
- GPATCH11 p.Asn75Lys Uncertain significance Single submitter
- GPATCH11 p.Asp177Gly Uncertain significance Single submitter
- GPATCH11 p.Asp208Glu Uncertain significance Single submitter
- GPATCH11 p.Gln140Lys Uncertain significance Single submitter
- GPATCH11 p.Gln157Glu Uncertain significance Single submitter
- GPATCH11 p.Gln52Arg Uncertain significance Single submitter
- GPATCH11 p.Glu142Lys Uncertain significance Single submitter
- GPATCH11 p.Glu163Gly Uncertain significance Single submitter
- GPATCH11 p.Glu197Lys Uncertain significance Single submitter
- GPATCH11 p.Glu202Ala Uncertain significance Single submitter
- GPATCH11 p.Glu203Asp Uncertain significance Single submitter
- GPATCH11 p.Glu211Lys Uncertain significance Single submitter
- GPATCH11 p.Glu21Asp Uncertain significance Single submitter
- GPATCH11 p.Glu45Lys Uncertain significance Single submitter
- GPATCH11 p.Glu58Lys Uncertain significance Single submitter
- GPATCH11 p.Glu61Ala Uncertain significance Single submitter
- GPATCH11 p.Gly85Ser Uncertain significance Single submitter
- GPATCH11 p.Gly96Ala Uncertain significance Single submitter
- GPATCH11 p.Ile23Thr Uncertain significance Single submitter
- GPATCH11 p.Leu162Val Uncertain significance Single submitter
- GPATCH11 p.Leu30Val Uncertain significance Single submitter
- GPATCH11 p.Lys127Asn Uncertain significance Single submitter
- GPATCH11 p.Lys213Asn Uncertain significance Single submitter
- GPATCH11 p.Met160Leu Uncertain significance Single submitter
- GPATCH11 p.Ser130Arg Uncertain significance Single submitter
- GPATCH11 p.Ser54Asn Uncertain significance Single submitter
- GPATCH11 p.Trp239Arg Uncertain significance Single submitter
- GPATCH11 p.Tyr11Cys Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- GPATCH11 p.Arg152Gln Uncertain significance Single submitter
- GPATCH11 p.Asp10Glu Uncertain significance Single submitter
- GPATCH11 p.Asp64His Uncertain significance Single submitter
- GPATCH11 p.Gln90Arg Uncertain significance Single submitter
- GPATCH11 p.Lys87Glu Uncertain significance Single submitter
- GPATCH11 p.Phe149Leu Uncertain significance Single submitter
All GPATCH11 variants
Pathogenic 4
- c.328+1G>T No assertion criteria Early onset and severe retinal dystrophy with neurological impairment and facial dysmorphia
- c.449+1G>C No assertion criteria Early onset and severe retinal dystrophy with neurological impairment and facial dysmorphia
- p.Arg152Ter No assertion criteria Early onset and severe retinal dystrophy with neurological impairment and facial dysmorphia
- p.Tyr131Ter No assertion criteria Early onset and severe retinal dystrophy with neurological impairment and facial dysmorphia
Uncertain significance 38
- p.Ala146Ser Single submitter ⚠
- p.Ala36Val Single submitter ⚠
- p.Ala46Val Single submitter ⚠
- p.Arg152Gln Single submitter ⚠
- p.Asn75Lys Single submitter ⚠
- p.Asp10Glu Single submitter ⚠
- p.Asp177Gly Single submitter ⚠
- p.Asp208Glu Single submitter ⚠
- p.Asp64His Single submitter ⚠
- p.Gln140Lys Single submitter ⚠
- p.Gln157Glu Single submitter ⚠
- p.Gln52Arg Single submitter ⚠
- p.Gln90Arg Single submitter ⚠
- p.Glu142Lys Single submitter ⚠
- p.Glu163Gly Single submitter ⚠
- p.Glu197Lys Single submitter ⚠
- p.Glu202Ala Single submitter ⚠
- p.Glu203Asp Single submitter ⚠
- p.Glu211Lys Single submitter ⚠
- p.Glu21Asp Single submitter ⚠
- p.Glu45Lys Single submitter ⚠
- p.Glu58Lys Single submitter ⚠
- p.Glu61Ala Single submitter ⚠
- p.Gly85Ser Single submitter ⚠
- p.Gly96Ala Single submitter ⚠
- p.Ile23Thr Single submitter ⚠
- p.Leu162Val Single submitter ⚠
- p.Leu30Val Single submitter ⚠
- p.Lys127Asn Single submitter ⚠
- p.Lys213Asn Single submitter ⚠
- p.Lys87Glu Single submitter ⚠
- p.Met160Leu Single submitter ⚠
- p.Phe149Leu Single submitter ⚠
- p.Pro25Ala Single submitter
- p.Ser130Arg Single submitter ⚠
- p.Ser54Asn Single submitter ⚠
- p.Trp239Arg Single submitter ⚠
- p.Tyr11Cys Single submitter ⚠