TTLL12 — 149 ClinVar variants

All ClinVar germline TTLL12 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 117 flagged for review →

5 Benign · 17 Likely benign · 127 Uncertain significance

Full TTLL12 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 117

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 85

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

Predictors split 32

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

All TTLL12 variants

Benign 5

c.1645-5C>A Multiple submitters
p.Arg84= Multiple submitters
p.Pro381= Multiple submitters
p.Val583= Multiple submitters
p.Thr513= Single submitter

Likely benign 17

p.Ala164Asp Single submitter
p.Ala210= Single submitter
p.Ala424= Single submitter
p.Arg553Gln Single submitter
p.Arg84Gln Single submitter
p.Glu237= Single submitter
p.Gly592Arg Single submitter
p.Gly636Ser Single submitter
p.His301= Single submitter
p.Leu325Phe Single submitter
p.Ser199= Single submitter
p.Ser434Asn Single submitter
p.Thr160Ala Single submitter
p.Thr429= Single submitter
p.Tyr618= Single submitter
p.Val311Met Single submitter
p.Val431Ile Single submitter

Uncertain significance 127

p.Ala123Thr Single submitter
p.Ala146Thr Single submitter ⚠
p.Ala204Val Single submitter ⚠
p.Ala25Val Single submitter ⚠
p.Ala281Thr Single submitter ⚠
p.Ala281Val Single submitter ⚠
p.Ala330Val Single submitter ⚠
p.Ala332Thr Single submitter
p.Ala372Asp Single submitter ⚠
p.Ala372Thr Single submitter ⚠
p.Ala375Thr Single submitter ⚠
p.Ala424Val Single submitter ⚠
p.Ala582Val Single submitter ⚠
p.Arg132Cys Single submitter ⚠
p.Arg132His Single submitter ⚠
p.Arg144Cys Single submitter ⚠
p.Arg200Gln Single submitter ⚠
p.Arg200Trp Single submitter ⚠
p.Arg240Gly Single submitter ⚠
p.Arg252Trp Single submitter
p.Arg389Gln Single submitter ⚠
p.Arg394His Single submitter ⚠
p.Arg407Gln Single submitter ⚠
p.Arg409Thr Single submitter ⚠
p.Arg425Cys Single submitter ⚠
p.Arg425His Single submitter ⚠
p.Arg425Leu Single submitter ⚠
p.Arg461Gln Single submitter ⚠
p.Arg498Gly Single submitter ⚠
p.Arg578Gln Single submitter
p.Arg597Gln Single submitter ⚠
p.Arg614Gln Single submitter ⚠
p.Arg87Gln Single submitter ⚠
p.Asn503Lys Single submitter ⚠
p.Asn591Lys Single submitter ⚠
p.Asp121Glu Single submitter ⚠
p.Asp205Glu Single submitter ⚠
p.Asp293Glu Single submitter ⚠
p.Asp470Asn Single submitter ⚠
p.Asp520Gly Single submitter ⚠
p.Asp584His Single submitter ⚠
p.Gln26Pro Single submitter ⚠
p.Gln538Arg Single submitter
p.Gln548Arg Single submitter ⚠
p.Glu30Ala Single submitter ⚠
p.Glu30Lys Single submitter ⚠
p.Glu329Gly Single submitter ⚠
p.Glu408Gly Single submitter ⚠
p.Glu412Lys Single submitter ⚠
p.Glu509Lys Single submitter ⚠
p.Glu534Lys Single submitter ⚠
p.Glu534Val Single submitter ⚠
p.Glu79Lys Single submitter ⚠
p.Glu85Lys Single submitter ⚠
p.Gly182Arg Single submitter ⚠
p.Gly353Arg Single submitter ⚠
p.Gly592Ser Single submitter ⚠
p.Gly64Ala Single submitter
p.His299Gln Single submitter ⚠
p.His299Pro Single submitter ⚠
p.His340Arg Single submitter ⚠
p.His639Tyr Single submitter ⚠
p.Ile102Met Single submitter ⚠
p.Ile294Thr Single submitter ⚠
p.Ile304Thr Single submitter ⚠
p.Ile374Val Single submitter ⚠
p.Ile438Val Single submitter ⚠
p.Ile453Val Single submitter ⚠
p.Ile551Val Single submitter ⚠
p.Leu229Pro Single submitter ⚠
p.Leu265Pro Single submitter ⚠
p.Leu290Val Single submitter ⚠
p.Lys253Asn Single submitter ⚠
p.Lys289Gln Single submitter ⚠
p.Lys447Thr Single submitter ⚠
p.Lys451Glu Single submitter ⚠
p.Met194Thr Single submitter ⚠
p.Met217Val Single submitter ⚠
p.Met586Val Single submitter ⚠
p.Met599Val Single submitter ⚠
p.Met70Ile Single submitter ⚠
p.Phe197Leu Single submitter ⚠
p.Phe209Leu Single submitter ⚠
p.Phe459Leu Single submitter ⚠
p.Phe542Leu Single submitter ⚠
p.Phe559Leu Single submitter ⚠
p.Pro114Ser Single submitter ⚠
p.Pro189Leu Single submitter ⚠
p.Pro207Leu Single submitter ⚠
p.Pro218Leu Single submitter ⚠
p.Pro21Leu Single submitter ⚠
p.Pro272Thr Single submitter ⚠
p.Pro274Leu Single submitter ⚠
p.Pro300Leu Single submitter ⚠
p.Pro321Leu Single submitter ⚠
p.Pro384Leu Single submitter ⚠
p.Pro388Ser Single submitter
p.Pro482Leu Single submitter
p.Pro93Leu Single submitter ⚠
p.Ser159Thr Single submitter ⚠
p.Ser199Leu Single submitter ⚠
p.Ser373Tyr Single submitter ⚠
p.Ser426Ile Single submitter ⚠
p.Ser479Thr Single submitter ⚠
p.Ser628Arg Single submitter ⚠
p.Thr176Pro Single submitter ⚠
p.Thr211Met Single submitter ⚠
p.Thr224Met Single submitter
p.Thr309Met Single submitter ⚠
p.Thr432Ala Single submitter ⚠
p.Thr513Met Single submitter ⚠
p.Thr545Met Single submitter ⚠
p.Trp410Cys Single submitter ⚠
p.Tyr244Cys Single submitter ⚠
p.Tyr473Cys Single submitter ⚠
p.Val103Ala Single submitter ⚠
p.Val163Met Single submitter ⚠
p.Val238Met Single submitter ⚠
p.Val367Ala Single submitter ⚠
p.Val467Ile Single submitter ⚠
p.Val475Met Single submitter ⚠
p.Val487Met Single submitter ⚠
p.Val514Ile Single submitter
p.Val547Ile Single submitter ⚠
p.Val640Ile Single submitter ⚠
p.Val86Leu Single submitter ⚠
p.Val86Met Single submitter ⚠