C12ORF4 — 53 ClinVar variants
All ClinVar germline C12ORF4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 9 flagged for review →
6 Pathogenic · 2 Pathogenic/Likely pathogenic · 15 Likely pathogenic · 2 Benign · 2 Benign/Likely benign · 14 Likely benign · 12 Uncertain significance
Full C12ORF4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 9
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 9
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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C12ORF4 p.Gln232Glu
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 66
- C12ORF4 p.Glu168Lys Uncertain significance Single submitter
-
C12ORF4 p.Glu58Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
C12ORF4 p.Gly171Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- C12ORF4 p.His427Arg Uncertain significance Single submitter
- C12ORF4 p.Ile57Leu Uncertain significance Single submitter
- C12ORF4 p.Pro471Arg Uncertain significance Single submitter
-
C12ORF4 p.Pro54Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
C12ORF4 p.Ser256Pro
Uncertain significance
Single submitter
intellectual disability, autosomal recessive 66
All C12ORF4 variants
Pathogenic 6
- p.Arg167Ter Single submitter intellectual disability, autosomal recessive 66
- p.Gln378Ter Single submitter
- p.Glu162Ter Single submitter
- p.Glu272fs Single submitter
- p.Glu63Ter Single submitter intellectual disability, autosomal recessive 66
- p.Thr348fs Single submitter intellectual disability, autosomal recessive 66
Pathogenic/Likely pathogenic 2
- p.Arg454Ter Multiple submitters intellectual disability, autosomal recessive 66
- p.Gln214fs No assertion criteria intellectual disability, autosomal recessive 66
Likely pathogenic 15
- c.799_1034-429delinsTTATGA Single submitter intellectual disability, autosomal recessive 66
- p.Arg360Ter Single submitter intellectual disability, autosomal recessive 66
- p.Lys401fs Single submitter intellectual disability, autosomal recessive 66
- c.729-1G>A Single submitter
- p.Arg13fs Single submitter intellectual disability, autosomal recessive 66
- p.Arg169fs Single submitter
- p.Arg306Ter Single submitter
- p.Arg335Ter Single submitter intellectual disability, autosomal recessive 66
- p.Gln224Ter Single submitter C12orf4-related disorder
- p.Gln67Ter Single submitter
- p.Glu14fs Single submitter intellectual disability, autosomal recessive 66
- p.Gly390fs Single submitter intellectual disability, autosomal recessive 66
- p.Leu278Ter Single submitter intellectual disability, autosomal recessive 66
- p.Leu328Pro Single submitter intellectual disability, autosomal recessive 66
- p.Lys176fs Single submitter intellectual disability, autosomal recessive 66
Benign 2
- c.1033+320CT[13] Single submitter
- p.Gln281= Single submitter
Benign/Likely benign 2
- c.1499-11T>G Multiple submitters
- p.Ile361Thr Multiple submitters
Likely benign 14
- p.Asp203= Multiple submitters
- p.Phe149= Multiple submitters
- c.1498+17_1498+20del Single submitter
- c.1566+17G>T Single submitter
- c.1566+8A>G Single submitter
- c.1567-9G>A Single submitter
- c.836-19del Single submitter
- p.Ala491= Single submitter
- p.Asp94= Single submitter
- p.Glu199= Single submitter
- p.Leu488= Single submitter
- p.Leu85= Single submitter
- p.Ser209= Single submitter
- p.Thr101= Single submitter
Uncertain significance 12
- p.Ser215fs Single submitter
- c.1566+1G>C Single submitter
- p.Gln232Glu Single submitter intellectual disability, autosomal recessive 66 ⚠
- p.Glu14Ter Single submitter
- p.Glu168Lys Single submitter ⚠
- p.Glu58Lys Single submitter Inborn genetic diseases ⚠
- p.Gly171Arg Single submitter Inborn genetic diseases ⚠
- p.His427Arg Single submitter ⚠
- p.Ile57Leu Single submitter ⚠
- p.Pro471Arg Single submitter ⚠
- p.Pro54Ser Single submitter Inborn genetic diseases ⚠
- p.Ser256Pro Single submitter intellectual disability, autosomal recessive 66 ⚠