TSPYL6 — 88 ClinVar variants

All ClinVar germline TSPYL6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 71 flagged for review →

11 Benign · 6 Likely benign · 71 Uncertain significance

Full TSPYL6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 71

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 46

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 25

The independent predictors disagree with each other — read with care.

All TSPYL6 variants

Benign 11

p.Ala100= Multiple submitters
p.Ala60Val Multiple submitters
p.Asp149= Multiple submitters
p.Glu96Asp Multiple submitters
p.Met1Val Multiple submitters
p.Pro20= Multiple submitters
p.Pro4Leu Multiple submitters
p.Pro51Leu Multiple submitters
p.Thr70= Multiple submitters
p.188GP[3] Single submitter
p.Pro116Leu Single submitter

Likely benign 6

p.Ser104= Multiple submitters
p.Arg332Gln Single submitter
p.Arg53Gln Single submitter
p.Asn184Lys Single submitter
p.Leu13= Single submitter
p.Met1Thr Single submitter

Uncertain significance 71

p.Ala134Gly Single submitter ⚠
p.Ala143Val Single submitter ⚠
p.Ala179Val Single submitter ⚠
p.Ala187Gly Single submitter ⚠
p.Ala32Thr Single submitter ⚠
p.Ala37Val Single submitter ⚠
p.Ala390Val Single submitter ⚠
p.Ala95Glu Single submitter ⚠
p.Arg136Ser Single submitter ⚠
p.Arg185Lys Single submitter ⚠
p.Arg27Gln Single submitter ⚠
p.Arg300Gly Single submitter ⚠
p.Arg331Cys Single submitter ⚠
p.Arg344Gly Single submitter ⚠
p.Arg393His Single submitter ⚠
p.Asp172Tyr Single submitter ⚠
p.Asp213His Single submitter ⚠
p.Cys409Tyr Single submitter ⚠
p.Gln240His Single submitter ⚠
p.Gln379Leu Single submitter ⚠
p.Gln88Arg Single submitter ⚠
p.Glu126Asp Single submitter ⚠
p.Glu126Lys Single submitter ⚠
p.Glu154Val Single submitter ⚠
p.Glu169Gln Single submitter ⚠
p.Glu186Gln Single submitter ⚠
p.Glu186Lys Single submitter ⚠
p.Glu227Asp Single submitter ⚠
p.Glu272Asp Single submitter ⚠
p.Glu281Asp Single submitter ⚠
p.Glu284Val Single submitter ⚠
p.Glu314Val Single submitter ⚠
p.Glu45Gln Single submitter ⚠
p.Gly122Ala Single submitter ⚠
p.Gly122Ser Single submitter ⚠
p.Gly167Arg Single submitter ⚠
p.Gly319Cys Single submitter ⚠
p.Gly335Arg Single submitter ⚠
p.Gly87Glu Single submitter ⚠
p.His287Tyr Single submitter ⚠
p.His341Arg Single submitter ⚠
p.His341Tyr Single submitter ⚠
p.His345Arg Single submitter ⚠
p.His8Tyr Single submitter ⚠
p.Ile266Val Single submitter ⚠
p.Ile365Thr Single submitter ⚠
p.Ile47Asn Single submitter ⚠
p.Ile73Val Single submitter ⚠
p.Leu212Val Single submitter ⚠
p.Lys295Asn Single submitter ⚠
p.Met171Leu Single submitter ⚠
p.Met265Ile Single submitter ⚠
p.Met36Ile Single submitter ⚠
p.Phe304Leu Single submitter ⚠
p.Pro193His Single submitter ⚠
p.Pro193Leu Single submitter ⚠
p.Pro195Ser Single submitter ⚠
p.Pro20Leu Single submitter ⚠
p.Pro4Gln Single submitter ⚠
p.Pro61Ser Single submitter ⚠
p.Ser137Trp Single submitter ⚠
p.Thr120Ala Single submitter ⚠
p.Thr120Met Single submitter ⚠
p.Thr254Ile Single submitter ⚠
p.Trp330Cys Single submitter ⚠
p.Tyr380His Single submitter ⚠
p.Val35Ile Single submitter ⚠
p.Val35Leu Single submitter ⚠
p.Val395Glu Single submitter ⚠
p.Val399Met Single submitter ⚠
p.Val48Leu Single submitter ⚠