SRSF6 — 54 ClinVar variants
All ClinVar germline SRSF6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 47 flagged for review →
2 Benign · 3 Likely benign · 49 Uncertain significance
Full SRSF6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 47
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 28
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SRSF6 p.Arg107His Uncertain significance Single submitter
- SRSF6 p.Arg184His Uncertain significance Single submitter
- SRSF6 p.Arg215Gly Uncertain significance Single submitter
- SRSF6 p.Arg223His Uncertain significance Single submitter
- SRSF6 p.Arg233Gly Uncertain significance Single submitter
- SRSF6 p.Arg237Leu Uncertain significance Single submitter
- SRSF6 p.Arg255Gln Uncertain significance Single submitter
- SRSF6 p.Arg275Lys Uncertain significance Single submitter
- SRSF6 p.Arg313His Uncertain significance Single submitter
- SRSF6 p.Arg77Cys Uncertain significance Single submitter
- SRSF6 p.Arg94Gly Uncertain significance Single submitter
- SRSF6 p.Asp344Gly Uncertain significance Single submitter
- SRSF6 p.Asp76Glu Uncertain significance Single submitter
- SRSF6 p.Glu270Ala Uncertain significance Single submitter
- SRSF6 p.Gly232Asp Uncertain significance Single submitter
- SRSF6 p.Gly83Glu Uncertain significance Single submitter
- SRSF6 p.Ile171Val Uncertain significance Single submitter
- SRSF6 p.Ile289Thr Uncertain significance Single submitter
- SRSF6 p.Ile6Thr Uncertain significance Single submitter
- SRSF6 p.Ile6Val Uncertain significance Single submitter
- SRSF6 p.Lys242Arg Uncertain significance Single submitter
- SRSF6 p.Pro281His Uncertain significance Single submitter
- SRSF6 p.Pro308Ala Uncertain significance Single submitter
- SRSF6 p.Ser186Gly Uncertain significance Single submitter
- SRSF6 p.Ser190Phe Uncertain significance Single submitter
- SRSF6 p.Ser224Phe Uncertain significance Single submitter
- SRSF6 p.Ser249Pro Uncertain significance Single submitter
- SRSF6 p.Tyr25Cys Uncertain significance Single submitter
Predictors split 19
The independent predictors disagree with each other — read with care.
- SRSF6 p.Arg161His Uncertain significance Single submitter
- SRSF6 p.Arg184Cys Uncertain significance Single submitter
- SRSF6 p.Arg203Gln Uncertain significance Single submitter
- SRSF6 p.Arg213Cys Uncertain significance Single submitter
- SRSF6 p.Arg225Cys Uncertain significance Single submitter
- SRSF6 p.Arg229Gln Uncertain significance Single submitter
- SRSF6 p.Arg229Trp Uncertain significance Single submitter
- SRSF6 p.Arg233Gln Uncertain significance Single submitter
- SRSF6 p.Arg296Thr Uncertain significance Single submitter
- SRSF6 p.Arg313Cys Uncertain significance Single submitter
- SRSF6 p.Arg331Cys Uncertain significance Single submitter
- SRSF6 p.Pro304Leu Uncertain significance Single submitter
- SRSF6 p.Ser245Thr Uncertain significance Single submitter
- SRSF6 p.Ser332Pro Uncertain significance Single submitter
- SRSF6 p.Ser340Leu Uncertain significance Single submitter
- SRSF6 p.Ser340Thr Uncertain significance Single submitter
- SRSF6 p.Ser342Cys Uncertain significance Single submitter
- SRSF6 p.Ser84Asn Uncertain significance Single submitter
- SRSF6 p.Tyr191Cys Uncertain significance Single submitter
All SRSF6 variants
Benign 2
- c.382-7C>T Multiple submitters
- p.Arg184= Single submitter
Likely benign 3
- p.Arg197= Single submitter
- p.Arg300His Single submitter
- p.His258Arg Single submitter
Uncertain significance 49
- p.Arg107His Single submitter ⚠
- p.Arg161His Single submitter ⚠
- p.Arg184Cys Single submitter ⚠
- p.Arg184His Single submitter ⚠
- p.Arg203Gln Single submitter ⚠
- p.Arg213Cys Single submitter ⚠
- p.Arg215Gly Single submitter ⚠
- p.Arg223His Single submitter ⚠
- p.Arg225Cys Single submitter ⚠
- p.Arg229Gln Single submitter ⚠
- p.Arg229Trp Single submitter ⚠
- p.Arg233Gln Single submitter ⚠
- p.Arg233Gly Single submitter ⚠
- p.Arg237Leu Single submitter ⚠
- p.Arg255Gln Single submitter ⚠
- p.Arg275Lys Single submitter ⚠
- p.Arg296Thr Single submitter ⚠
- p.Arg313Cys Single submitter ⚠
- p.Arg313His Single submitter ⚠
- p.Arg331Cys Single submitter ⚠
- p.Arg77Cys Single submitter ⚠
- p.Arg77Gly Single submitter
- p.Arg94Gly Single submitter ⚠
- p.Asp344Gly Single submitter ⚠
- p.Asp76Glu Single submitter ⚠
- p.Glu270Ala Single submitter ⚠
- p.Gly232Asp Single submitter ⚠
- p.Gly83Glu Single submitter ⚠
- p.Ile171Val Single submitter ⚠
- p.Ile289Thr Single submitter ⚠
- p.Ile6Thr Single submitter ⚠
- p.Ile6Val Single submitter ⚠
- p.Lys242Arg Single submitter ⚠
- p.Pro281His Single submitter ⚠
- p.Pro304Leu Single submitter ⚠
- p.Pro308Ala Single submitter ⚠
- p.Ser186Gly Single submitter ⚠
- p.Ser190Phe Single submitter ⚠
- p.Ser224Phe Single submitter ⚠
- p.Ser245Thr Single submitter ⚠
- p.Ser249Pro Single submitter ⚠
- p.Ser332Pro Single submitter ⚠
- p.Ser340Leu Single submitter ⚠
- p.Ser340Thr Single submitter ⚠
- p.Ser342Cys Single submitter ⚠
- p.Ser84Asn Single submitter ⚠
- p.Thr137_Tyr138insTer Single submitter
- p.Tyr191Cys Single submitter ⚠
- p.Tyr25Cys Single submitter ⚠