GPX4 — 214 ClinVar variants
All ClinVar germline GPX4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.
7 Pathogenic · 1 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 4 Conflicting · 20 Benign · 1 Benign/Likely benign · 81 Likely benign · 92 Uncertain significance
Full GPX4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactionsAll GPX4 variants
Pathogenic 7
- c.85-295C>T Single submitter
- c.85-346dup Single submitter
- c.85-403C>T Single submitter
- p.Gly111fs Single submitter
- p.Ile170fs Single submitter
- c.477-8_477-4del No assertion criteria spondylometaphyseal dysplasia, Sedaghatian type
- p.Tyr90Ter No assertion criteria spondylometaphyseal dysplasia, Sedaghatian type
Pathogenic/Likely pathogenic 1
- p.Lys145_Trp146insTer Multiple submitters spondylometaphyseal dysplasia, Sedaghatian type
Likely pathogenic 8
- c.502-1del Multiple submitters spondylometaphyseal dysplasia, Sedaghatian type
- p.Arg179His Multiple submitters GPX4-related disorder
- c.502-1_508del Single submitter
- c.85-1G>A Single submitter
- p.Cys16fs Single submitter spondylometaphyseal dysplasia, Sedaghatian type
- p.Gly122fs Single submitter spondylometaphyseal dysplasia, Sedaghatian type
- p.Gly51_His52insTer Single submitter
- c.324+1G>A No assertion criteria spondylometaphyseal dysplasia, Sedaghatian type
Conflicting classifications of pathogenicity 4
- c.476+5G>A Single submitter spondylometaphyseal dysplasia, Sedaghatian type
- c.85-284C>G Single submitter Inborn genetic diseases
- c.85-321G>A Single submitter spondylometaphyseal dysplasia, Sedaghatian type
- p.Glu114Lys Single submitter Inborn genetic diseases
Benign 20
- c.179+31T>C Multiple submitters
- c.476+42T>G Multiple submitters
- c.561+19G>C Multiple submitters
- c.84+312G>C Multiple submitters
- c.84+401C>G Multiple submitters
- c.84+437G>T Multiple submitters
- c.85-311C>T Multiple submitters
- c.*44T>C Multiple submitters
- p.Cys134= Multiple submitters
- p.Ser131Gly Multiple submitters
- c.324+12C>A Single submitter
- c.324+22dup Single submitter
- c.476+36T>G Single submitter
- c.476+42_476+47del Single submitter
- c.501+19del Single submitter
- c.501+19dup Single submitter
- c.501+9del Single submitter
- c.562-7C>G Single submitter
- c.85-250G>C Single submitter
- p.Ala88= Single submitter
Benign/Likely benign 1
- p.Thr166= Multiple submitters
Likely benign 81
- c.477-111C>T Multiple submitters
- c.477-12C>T Multiple submitters
- c.477-134G>T Multiple submitters
- c.*161G>A Multiple submitters
- p.Asn173= Multiple submitters Inborn genetic diseases
- p.Gly181Arg Multiple submitters
- c.179+15G>A Single submitter
- c.179+8C>T Single submitter
- c.180-14G>A Single submitter
- c.180-18C>T Single submitter
- c.180-5C>G Single submitter
- c.180-7C>T Single submitter
- c.180-8C>T Single submitter
- c.324+11G>C Single submitter
- c.324+15C>A Single submitter
- c.324+15C>T Single submitter
- c.324+18C>T Single submitter
- c.324+19G>C Single submitter
- c.325-10G>A Single submitter
- c.325-14C>T Single submitter
- c.325-21CA[2] Single submitter
- c.325-5C>T Single submitter
- c.476+12C>G Single submitter
- c.476+9C>T Single submitter
- c.477-4C>A Single submitter
- c.477-9C>T Single submitter
- c.501+11T>C Single submitter
- c.501+15G>A Single submitter
- c.502-12G>A Single submitter
- c.502-19G>C Single submitter
- c.561+13T>C Single submitter
- c.561+15G>C Single submitter
- c.561+19G>A Single submitter
- c.561+7C>T Single submitter
- c.562-11C>T Single submitter
- c.562-17G>A Single submitter
- c.562-19C>T Single submitter
- c.562-5G>A Single submitter
- c.562-6C>T Single submitter
- c.85-14C>T Single submitter
- c.85-20C>T Single submitter
- c.85-260C>T Single submitter
- c.85-281C>G Single submitter
- c.85-314G>A Single submitter
- c.85-332G>A Single submitter
- c.85-341C>A Single submitter
- c.85-344G>A Single submitter
- c.85-350G>A Single submitter
- c.85-353A>G Single submitter
- c.85-410G>A Single submitter
- c.85-425C>T Single submitter
- c.85-437C>G Single submitter
- c.85-440G>T Single submitter
- c.85-4G>A Single submitter
- c.85-9G>C Single submitter
- c.*56C>T Single submitter
- c.*58G>A Single submitter
- p.Asn136= Single submitter
- p.Asp50= Single submitter
- p.Glu77= Single submitter
- p.Gly111= Single submitter
- p.Gly122= Single submitter
- p.Gly137= Single submitter
- p.His195= Single submitter
- p.Ile133= Single submitter
- p.Leu187= Single submitter Inborn genetic diseases
- p.Leu193= Single submitter
- p.Leu83= Single submitter
- p.Lys148= Single submitter
- p.Lys75= Single submitter
- p.Phe165= Single submitter
- p.Phe168= Single submitter
- p.Pro142= Single submitter
- p.Ser31= Single submitter
- p.Ser45= Single submitter
- p.Ter198= Single submitter
- p.Thr67= Single submitter
- p.Thr76= Single submitter
- p.Val177= Single submitter
- p.Val66= Single submitter
- c.-6G>A No assertion criteria GPX4-related disorder
Uncertain significance 92
- c.85-258C>T Multiple submitters Inborn genetic diseases
- c.85-307C>T Multiple submitters Inborn genetic diseases
- c.85-408G>C Multiple submitters Inborn genetic diseases
- c.85-420G>A Multiple submitters Inborn genetic diseases
- c.85-427C>T Multiple submitters Inborn genetic diseases
- c.85-429C>T Multiple submitters Inborn genetic diseases
- p.Ala120Thr Multiple submitters
- p.Arg96Gln Multiple submitters Inborn genetic diseases
- p.Asp139Asn Multiple submitters Inborn genetic diseases
- p.Glu184Asp Multiple submitters Inborn genetic diseases
- p.Leu56Pro Multiple submitters GPX4-related disorder
- p.Met129Val Multiple submitters Inborn genetic diseases
- p.Met53Val Multiple submitters Inborn genetic diseases
- p.Ser112Arg Multiple submitters Inborn genetic diseases
- p.Thr67Pro Multiple submitters Inborn genetic diseases
- p.Thr67Ser Multiple submitters Inborn genetic diseases
- c.180-3C>A Single submitter
- c.324+5G>A Single submitter
- c.476+5G>C Single submitter
- c.561+4G>T Single submitter
- c.85-280G>C Single submitter Inborn genetic diseases
- c.85-282A>G Single submitter Inborn genetic diseases
- c.85-291C>T Single submitter Inborn genetic diseases
- c.85-294G>T Single submitter Inborn genetic diseases
- c.85-306C>T Single submitter Inborn genetic diseases
- c.85-309G>C Single submitter Inborn genetic diseases
- c.85-318A>C Single submitter Inborn genetic diseases
- c.85-324G>A Single submitter
- c.85-333C>A Single submitter
- c.85-340A>G Single submitter Inborn genetic diseases
- c.85-342G>C Single submitter Inborn genetic diseases
- c.85-369G>C Single submitter Inborn genetic diseases
- c.85-401G>T Single submitter
- c.85-409C>T Single submitter Inborn genetic diseases
- c.85-420G>C Single submitter Inborn genetic diseases
- c.85-426C>T Single submitter
- c.85-433G>A Single submitter Inborn genetic diseases
- c.85-439G>A Single submitter Inborn genetic diseases
- p.Ala120Val Single submitter Inborn genetic diseases
- p.Ala160Thr Single submitter
- p.Ala20Thr Single submitter Inborn genetic diseases
- p.Ala21Ser Single submitter Inborn genetic diseases
- p.Ala21Thr Single submitter Inborn genetic diseases
- p.Ala25Pro Single submitter Inborn genetic diseases
- p.Ala46Ser Single submitter Inborn genetic diseases
- p.Ala91Thr Single submitter Inborn genetic diseases
- p.Arg179Cys Single submitter Inborn genetic diseases
- p.Arg32Trp Single submitter
- p.Arg36Cys Single submitter Inborn genetic diseases
- p.Arg39His Single submitter Inborn genetic diseases
- p.Asn103Asp Single submitter Inborn genetic diseases
- p.Asn68Asp Single submitter Inborn genetic diseases
- p.Asp128Gly Single submitter
- p.Asp138Glu Single submitter
- p.Asp171Gly Single submitter
- p.Asp171His Single submitter
- p.Asp34Asn Single submitter Inborn genetic diseases
- p.Asp50His Single submitter Inborn genetic diseases
- p.Asp57= Single submitter
- p.Asp85Glu Single submitter Inborn genetic diseases
- p.Asp85His Single submitter
- p.Glu184Gln Single submitter
- p.Gly111Arg Single submitter Inborn genetic diseases
- p.Gly122Cys Single submitter
- p.Gly137Arg Single submitter
- p.Gly153Ser Single submitter Inborn genetic diseases
- p.Gly4Cys Single submitter Inborn genetic diseases
- p.Gly51Arg Single submitter
- p.Gly61Ser Single submitter
- p.His42Arg Single submitter
- p.His42Asp Single submitter Inborn genetic diseases
- p.Ile170Met Single submitter Inborn genetic diseases
- p.Ile189Met Single submitter
- p.Leu193Pro Single submitter
- p.Leu6Phe Single submitter Inborn genetic diseases
- p.Lys117Ile Single submitter Inborn genetic diseases
- p.Lys132Asn Single submitter
- p.Lys154Asn Single submitter Inborn genetic diseases
- p.Lys162Asn Single submitter Inborn genetic diseases
- p.Lys162Glu Single submitter
- p.Lys167Arg Single submitter
- p.Met129Thr Single submitter Inborn genetic diseases
- p.Met53Leu Single submitter Inborn genetic diseases
- p.Pro101Arg Single submitter
- p.Pro12Gln Single submitter Inborn genetic diseases
- p.Pro182Leu Single submitter Inborn genetic diseases
- p.Pro194Ser Single submitter Inborn genetic diseases
- p.Ser112Asn Single submitter Inborn genetic diseases
- p.Ser31Phe Single submitter
- p.Tyr59His Single submitter Inborn genetic diseases
- p.Val176Met Single submitter Inborn genetic diseases
- p.Val84Ile Single submitter