GPATCH4 — 55 ClinVar variants

All ClinVar germline GPATCH4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.

3 Likely benign · 52 Uncertain significance

Full GPATCH4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

All GPATCH4 variants

Likely benign 3

p.Arg215Lys Single submitter
p.His99= Single submitter
p.Lys244= Single submitter

Uncertain significance 52

c.348+115G>A Single submitter
c.-65A>C Single submitter
c.-74G>C Single submitter
c.-79G>C Single submitter
p.Ala162Thr Single submitter
p.Ala174Pro Single submitter
p.Ala219Val Single submitter
p.Ala316Val Single submitter
p.Arg167His Single submitter
p.Arg178Cys Single submitter
p.Arg184Cys Single submitter
p.Arg227Lys Single submitter
p.Arg245Trp Single submitter
p.Arg288Gly Single submitter
p.Arg293Thr Single submitter
p.Arg332Ser Single submitter
p.Arg336Ile Single submitter
p.Arg37Trp Single submitter
p.Asn128Lys Single submitter
p.Asp53Gly Single submitter
p.Glu198Asp Single submitter
p.Glu305Asp Single submitter
p.Glu345Gly Single submitter
p.Gly119Ala Single submitter
p.Gly191Glu Single submitter
p.Gly295Glu Single submitter
p.Gly309Arg Single submitter
p.Gly36Ser Single submitter
p.Gly6Arg Single submitter
p.His22Tyr Single submitter
p.His27Gln Single submitter
p.His54Arg Single submitter
p.His55Asn Single submitter
p.Leu200Arg Single submitter
p.Lys213Thr Single submitter
p.Lys21Asn Single submitter
p.Lys343Arg Single submitter
p.Met167Lys Single submitter
p.Met172Val Single submitter
p.Phe65Tyr Single submitter
p.Pro332Ala Single submitter
p.Ser199Arg Single submitter
p.Ser199Ile Single submitter
p.Ser284Arg Single submitter
p.Ser339Asn Single submitter
p.Ser89Asn Single submitter
p.Thr326Ile Single submitter
p.Thr54Ile Single submitter
p.Thr80Ala Single submitter
p.Thr99Asn Single submitter
p.Trp365Cys Single submitter
p.Val324Ala Single submitter