CYP27C1 — 63 ClinVar variants

All ClinVar germline CYP27C1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.

1 Benign · 3 Likely benign · 59 Uncertain significance

Full CYP27C1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

All CYP27C1 variants

Benign 1

p.Thr524Met Multiple submitters

Likely benign 3

p.Arg373Gln Single submitter
p.Gly527Glu Single submitter
p.Leu491= Single submitter

Uncertain significance 59

p.Arg234Cys Single submitter
p.Arg271Thr Single submitter
p.Arg282Gln Single submitter
p.Arg286Ser Single submitter
p.Arg304Ser Single submitter
p.Arg314Gln Single submitter
p.Arg314Trp Single submitter
p.Arg373Leu Single submitter
p.Arg373Trp Single submitter
p.Arg405Ser Single submitter
p.Arg415Trp Single submitter
p.Arg450Trp Single submitter
p.Arg455Trp Single submitter
p.Arg461Trp Single submitter
p.Arg467Ser Single submitter
p.Arg481His Single submitter
p.Asn213Lys Single submitter
p.Asn413Asp Single submitter
p.Asn447Ser Single submitter
p.Asn470Asp Single submitter
p.Asp466Ala Single submitter
p.Gln368Arg Single submitter
p.Gln444Lys Single submitter
p.Gln511Arg Single submitter
p.Glu453Gln Single submitter
p.Gly313Asp Single submitter
p.Gly346Ser Single submitter
p.Gly425Arg Single submitter
p.Gly431Ser Single submitter
p.Gly526Ala Single submitter
p.Gly526Arg Single submitter
p.Gly526Glu Single submitter
p.Gly527Arg Single submitter
p.His298Asn Single submitter
p.His364Gln Single submitter
p.His494Tyr Single submitter
p.His503Arg Single submitter
p.Ile488Val Single submitter
p.Leu170Ser Single submitter
p.Leu255Ile Single submitter
p.Leu399Val Single submitter
p.Leu421Arg Single submitter
p.Lys518Thr Single submitter
p.Phe292Leu Single submitter
p.Pro177Gln Single submitter
p.Pro394Leu Single submitter
p.Pro429Leu Single submitter
p.Thr322Ala Single submitter
p.Thr350Met Single submitter
p.Thr370Ala Single submitter
p.Trp272Arg Single submitter
p.Tyr199Cys Single submitter
p.Tyr336Cys Single submitter
p.Val169Ile Single submitter
p.Val211Met Single submitter
p.Val347Ile Single submitter
p.Val367Ala Single submitter
p.Val468Ala Single submitter
p.Val531Met Single submitter