GPATCH3 — 96 ClinVar variants
All ClinVar germline GPATCH3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 81 flagged for review →
1 Benign · 9 Likely benign · 86 Uncertain significance
Full GPATCH3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 81
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 62
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- GPATCH3 p.Ala11Val Uncertain significance Single submitter
- GPATCH3 p.Ala254Thr Uncertain significance Single submitter
- GPATCH3 p.Ala27Ser Uncertain significance Single submitter
- GPATCH3 p.Ala342Val Uncertain significance Single submitter
- GPATCH3 p.Arg109Lys Uncertain significance Single submitter
- GPATCH3 p.Arg124Cys Uncertain significance Single submitter
- GPATCH3 p.Arg160Gln Uncertain significance Single submitter
- GPATCH3 p.Arg192Gly Uncertain significance Single submitter
- GPATCH3 p.Arg200Gln Uncertain significance Single submitter
- GPATCH3 p.Arg200Trp Uncertain significance Single submitter
- GPATCH3 p.Arg207Gln Uncertain significance Single submitter
- GPATCH3 p.Arg25His Uncertain significance Single submitter
- GPATCH3 p.Arg296Gly Uncertain significance Single submitter
- GPATCH3 p.Arg296Leu Uncertain significance Single submitter
- GPATCH3 p.Arg315Gln Uncertain significance Single submitter
- GPATCH3 p.Arg384His Uncertain significance Single submitter
- GPATCH3 p.Arg390Gln Uncertain significance Single submitter
- GPATCH3 p.Arg408His Uncertain significance Single submitter
- GPATCH3 p.Arg415Gln Uncertain significance Single submitter
- GPATCH3 p.Arg451His Uncertain significance Single submitter
- GPATCH3 p.Arg50Leu Uncertain significance Single submitter
- GPATCH3 p.Asp294Asn Uncertain significance Single submitter
- GPATCH3 p.Asp309Asn Uncertain significance Single submitter
- GPATCH3 p.Cys273Tyr Uncertain significance Single submitter
- GPATCH3 p.Cys431Tyr Uncertain significance Single submitter
- GPATCH3 p.Gln164Leu Uncertain significance Single submitter
- GPATCH3 p.Gln180Glu Uncertain significance Single submitter
- GPATCH3 p.Gln261Glu Uncertain significance Single submitter
- GPATCH3 p.Gln261Leu Uncertain significance Single submitter
- GPATCH3 p.Gln35Arg Uncertain significance Single submitter
- GPATCH3 p.Gln59His Uncertain significance Single submitter
- GPATCH3 p.Glu183Lys Uncertain significance Single submitter
- GPATCH3 p.Glu246Lys Uncertain significance Single submitter
- GPATCH3 p.Glu287Val Uncertain significance Single submitter
- GPATCH3 p.Glu299Asp Uncertain significance Single submitter
- GPATCH3 p.Glu39Asp Uncertain significance Single submitter
- GPATCH3 p.Glu39Lys Uncertain significance Single submitter
- GPATCH3 p.Glu400Lys Uncertain significance Single submitter
- GPATCH3 p.Glu491Gln Uncertain significance Single submitter
- GPATCH3 p.Glu9Gln Uncertain significance Single submitter
- GPATCH3 p.Gly513Ser Uncertain significance Single submitter
- GPATCH3 p.His289Tyr Uncertain significance Single submitter
- GPATCH3 p.Ile106Met Uncertain significance Single submitter
- GPATCH3 p.Ile140Val Uncertain significance Single submitter
- GPATCH3 p.Ile259Val Uncertain significance Single submitter
- GPATCH3 p.Ile413Val Uncertain significance Single submitter
- GPATCH3 p.Ile97Met Uncertain significance Single submitter
- GPATCH3 p.Leu385Val Uncertain significance Single submitter
- GPATCH3 p.Leu453Phe Uncertain significance Single submitter
- GPATCH3 p.Pro198Leu Uncertain significance Single submitter
- GPATCH3 p.Pro212Leu Uncertain significance Single submitter
- GPATCH3 p.Pro213Ser Uncertain significance Single submitter
- GPATCH3 p.Pro21His Uncertain significance Single submitter
- GPATCH3 p.Ser165Asn Uncertain significance Single submitter
- GPATCH3 p.Ser380Thr Uncertain significance Single submitter
- GPATCH3 p.Ser501Gly Uncertain significance Single submitter
- GPATCH3 p.Thr147Lys Uncertain significance Single submitter
- GPATCH3 p.Thr490Met Uncertain significance Single submitter
- GPATCH3 p.Thr69Ala Uncertain significance Single submitter
- GPATCH3 p.Val310Met Uncertain significance Single submitter
- GPATCH3 p.Val511Met Uncertain significance Single submitter
- GPATCH3 p.Gly475Glu Uncertain significance No assertion criteria
Predictors split 19
The independent predictors disagree with each other — read with care.
- GPATCH3 p.Arg207Trp Uncertain significance Single submitter
- GPATCH3 p.Arg210His Uncertain significance Single submitter
- GPATCH3 p.Arg214Trp Uncertain significance Single submitter
- GPATCH3 p.Arg451Cys Uncertain significance Single submitter
- GPATCH3 p.Asp361Glu Uncertain significance Single submitter
- GPATCH3 p.Asp376Asn Uncertain significance Single submitter
- GPATCH3 p.Gly233Arg Uncertain significance Single submitter
- GPATCH3 p.Gly333Arg Uncertain significance Single submitter
- GPATCH3 p.Gly373Arg Uncertain significance Single submitter
- GPATCH3 p.Lys328Asn Uncertain significance Single submitter
- GPATCH3 p.Met190Val Uncertain significance Single submitter
- GPATCH3 p.Met383Thr Uncertain significance Single submitter
- GPATCH3 p.Phe223Cys Uncertain significance Single submitter
- GPATCH3 p.Phe36Leu Uncertain significance Single submitter
- GPATCH3 p.Pro182Leu Uncertain significance Single submitter
- GPATCH3 p.Ser122Leu Uncertain significance Single submitter
- GPATCH3 p.Thr340Ile Uncertain significance Single submitter
- GPATCH3 p.Trp300Arg Uncertain significance Single submitter
- GPATCH3 p.Tyr368Cys Uncertain significance Single submitter
All GPATCH3 variants
Benign 1
- c.1111+112G>A Single submitter
Likely benign 9
- p.Asn234Ser Single submitter
- p.Gly281Arg Single submitter
- p.Gly281Glu Single submitter
- p.Gly312Arg Single submitter
- p.Ile97Val Single submitter
- c.451+3A>G No assertion criteria GPATCH3-related disorder
- p.Leu460= No assertion criteria GPATCH3-related disorder
- p.Pro212= No assertion criteria GPATCH3-related disorder
- p.Pro462= No assertion criteria GPATCH3-related disorder
Uncertain significance 86
- p.Ala11Val Single submitter ⚠
- p.Ala254Thr Single submitter ⚠
- p.Ala27Ser Single submitter ⚠
- p.Ala342Val Single submitter ⚠
- p.Arg109Lys Single submitter ⚠
- p.Arg124Cys Single submitter ⚠
- p.Arg160Gln Single submitter ⚠
- p.Arg192Gly Single submitter ⚠
- p.Arg200Gln Single submitter ⚠
- p.Arg200Trp Single submitter ⚠
- p.Arg207Gln Single submitter ⚠
- p.Arg207Trp Single submitter ⚠
- p.Arg210His Single submitter ⚠
- p.Arg214Trp Single submitter ⚠
- p.Arg25His Single submitter ⚠
- p.Arg296Gly Single submitter ⚠
- p.Arg296Leu Single submitter ⚠
- p.Arg315Gln Single submitter ⚠
- p.Arg384His Single submitter ⚠
- p.Arg390Gln Single submitter ⚠
- p.Arg408His Single submitter ⚠
- p.Arg415Gln Single submitter ⚠
- p.Arg451Cys Single submitter ⚠
- p.Arg451His Single submitter ⚠
- p.Arg50Leu Single submitter ⚠
- p.Asp294Asn Single submitter ⚠
- p.Asp309Asn Single submitter ⚠
- p.Asp361Glu Single submitter ⚠
- p.Asp376Asn Single submitter ⚠
- p.Cys273Tyr Single submitter ⚠
- p.Cys431Tyr Single submitter ⚠
- p.Gln164Leu Single submitter ⚠
- p.Gln180Glu Single submitter ⚠
- p.Gln261Glu Single submitter ⚠
- p.Gln261Leu Single submitter ⚠
- p.Gln35Arg Single submitter ⚠
- p.Gln59His Single submitter ⚠
- p.Glu183Lys Single submitter ⚠
- p.Glu246Lys Single submitter ⚠
- p.Glu287Val Single submitter ⚠
- p.Glu299Asp Single submitter ⚠
- p.Glu354Gly Single submitter
- p.Glu39Asp Single submitter ⚠
- p.Glu39Lys Single submitter ⚠
- p.Glu400Lys Single submitter ⚠
- p.Glu491Gln Single submitter ⚠
- p.Glu9Gln Single submitter ⚠
- p.Gly233Arg Single submitter ⚠
- p.Gly333Arg Single submitter ⚠
- p.Gly373Arg Single submitter ⚠
- p.Gly412Ser Single submitter
- p.Gly513Ser Single submitter ⚠
- p.His289Tyr Single submitter ⚠
- p.Ile106Met Single submitter ⚠
- p.Ile140Val Single submitter ⚠
- p.Ile259Val Single submitter ⚠
- p.Ile413Val Single submitter ⚠
- p.Ile97Met Single submitter ⚠
- p.Leu145Pro Single submitter
- p.Leu385Val Single submitter ⚠
- p.Leu453Phe Single submitter ⚠
- p.Lys328Asn Single submitter ⚠
- p.Met190Val Single submitter ⚠
- p.Met383Thr Single submitter ⚠
- p.Phe223Cys Single submitter ⚠
- p.Phe36Leu Single submitter ⚠
- p.Pro182Leu Single submitter ⚠
- p.Pro198Leu Single submitter ⚠
- p.Pro212Leu Single submitter ⚠
- p.Pro213Arg Single submitter
- p.Pro213Ser Single submitter ⚠
- p.Pro21His Single submitter ⚠
- p.Ser122Leu Single submitter ⚠
- p.Ser165Asn Single submitter ⚠
- p.Ser380Thr Single submitter ⚠
- p.Ser501Gly Single submitter ⚠
- p.Thr147Lys Single submitter ⚠
- p.Thr340Ile Single submitter ⚠
- p.Thr490Met Single submitter ⚠
- p.Thr69Ala Single submitter ⚠
- p.Trp300Arg Single submitter ⚠
- p.Tyr368Cys Single submitter ⚠
- p.Tyr481Cys Single submitter
- p.Val310Met Single submitter ⚠
- p.Val511Met Single submitter ⚠
- p.Gly475Glu No assertion criteria ⚠