TASP1 — 79 ClinVar variants
All ClinVar germline TASP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 40 flagged for review →
1 Pathogenic · 3 Likely pathogenic · 7 Benign · 21 Likely benign · 47 Uncertain significance
Full TASP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 40
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 34
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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TASP1 p.Glu354Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TASP1 p.Lys326Arg
Uncertain significance
Multiple submitters
Suleiman-El-Hattab syndrome
-
TASP1 p.Met214Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TASP1 p.Ala170Thr
Uncertain significance
Single submitter
Suleiman-El-Hattab syndrome
-
TASP1 p.Ala206Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TASP1 p.Ala400Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TASP1 p.Ala400Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TASP1 p.Asn144Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
TASP1 p.Asp212Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TASP1 p.Cys378Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TASP1 p.Gln19His
Uncertain significance
Single submitter
Inborn genetic diseases
-
TASP1 p.Gln311Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TASP1 p.Glu321Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
TASP1 p.Glu409Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
TASP1 p.Glu74Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
TASP1 p.Gly169Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TASP1 p.Gly342Arg
Uncertain significance
Single submitter
Suleiman-El-Hattab syndrome
-
TASP1 p.His177Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TASP1 p.His63Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TASP1 p.Ile301Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
TASP1 p.Leu364Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
TASP1 p.Leu396Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
TASP1 p.Met120Ile
Uncertain significance
Single submitter
Suleiman-El-Hattab syndrome
- TASP1 p.Pro139Ala Uncertain significance Single submitter
-
TASP1 p.Pro184Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TASP1 p.Pro355Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- TASP1 p.Ser252Asn Uncertain significance Single submitter
-
TASP1 p.Ser9Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
TASP1 p.Thr188Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
TASP1 p.Thr211Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
TASP1 p.Thr231Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
TASP1 p.Thr278Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
TASP1 p.Tyr171Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
TASP1 p.Tyr36Cys
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 6
The independent predictors disagree with each other — read with care.
-
TASP1 p.Ala48Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TASP1 p.Ala58Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TASP1 p.Phe191Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TASP1 p.Ser54Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
TASP1 p.Thr391Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- TASP1 p.Val343Met Uncertain significance No assertion criteria
All TASP1 variants
Pathogenic 1
- p.Arg67Ter No assertion criteria Suleiman-El-Hattab syndrome
Likely pathogenic 3
- c.404-2A>G Single submitter Suleiman-El-Hattab syndrome
- c.675+1G>T Single submitter Suleiman-El-Hattab syndrome
- p.Thr234Met Single submitter Suleiman-El-Hattab syndrome
Benign 7
- c.146-4T>A No assertion criteria TASP1-related disorder
- c.404-5del No assertion criteria TASP1-related disorder
- c.404-5dup No assertion criteria TASP1-related disorder
- c.404-6_404-5dup No assertion criteria TASP1-related disorder
- c.404-7_404-5dup No assertion criteria TASP1-related disorder
- p.Leu109= No assertion criteria TASP1-related disorder
- p.Leu255= No assertion criteria TASP1-related disorder
Likely benign 21
- c.404-5_404-4insTA Multiple submitters Inborn genetic diseases
- p.Gly341= Multiple submitters
- c.1171-16CT[5] Single submitter
- c.146-15T>C Single submitter
- c.404-3_404-2insTG Single submitter
- c.404-4A>T Single submitter
- c.404-6_404-5del Single submitter
- c.675+11G>A Single submitter
- c.795+7A>G Single submitter
- p.Ala195= Single submitter
- p.Ala353= Single submitter
- p.Asn360Asp Single submitter Inborn genetic diseases
- p.Gly122= Single submitter
- p.Gly292= Single submitter
- p.Gly338= Single submitter
- p.His242= Single submitter
- p.Ile136= Single submitter
- p.Leu319= Single submitter
- p.Pro161= Single submitter
- p.Gln215His No assertion criteria TASP1-related disorder
- p.Ser21Leu No assertion criteria TASP1-related disorder
Uncertain significance 47
- p.Glu354Lys Multiple submitters Inborn genetic diseases ⚠
- p.Lys326Arg Multiple submitters Suleiman-El-Hattab syndrome ⚠
- p.Met214Lys Multiple submitters Inborn genetic diseases ⚠
- c.403+3A>G Single submitter Suleiman-El-Hattab syndrome
- c.874+13999C>G Single submitter Suleiman-El-Hattab syndrome
- c.875-10G>A Single submitter Suleiman-El-Hattab syndrome
- p.Ala170Thr Single submitter Suleiman-El-Hattab syndrome ⚠
- p.Ala206Thr Single submitter Inborn genetic diseases ⚠
- p.Ala400Thr Single submitter Inborn genetic diseases ⚠
- p.Ala400Val Single submitter Inborn genetic diseases ⚠
- p.Ala48Val Single submitter Inborn genetic diseases ⚠
- p.Ala58Val Single submitter Inborn genetic diseases ⚠
- p.Asn144Ser Single submitter Inborn genetic diseases ⚠
- p.Asp212Glu Single submitter Inborn genetic diseases ⚠
- p.Cys378Tyr Single submitter Inborn genetic diseases ⚠
- p.Gln19His Single submitter Inborn genetic diseases ⚠
- p.Gln311Arg Single submitter Inborn genetic diseases ⚠
- p.Glu321Gly Single submitter Inborn genetic diseases ⚠
- p.Glu375Lys Single submitter Inborn genetic diseases
- p.Glu409Lys Single submitter Inborn genetic diseases ⚠
- p.Glu74Ala Single submitter Inborn genetic diseases ⚠
- p.Gly153= Single submitter Suleiman-El-Hattab syndrome
- p.Gly169Arg Single submitter Inborn genetic diseases ⚠
- p.Gly342Arg Single submitter Suleiman-El-Hattab syndrome ⚠
- p.Gly49fs Single submitter
- p.His177Arg Single submitter Inborn genetic diseases ⚠
- p.His63Arg Single submitter Inborn genetic diseases ⚠
- p.Ile301Met Single submitter Inborn genetic diseases ⚠
- p.Leu364Phe Single submitter Inborn genetic diseases ⚠
- p.Leu396Phe Single submitter Inborn genetic diseases ⚠
- p.Lys197Glu Single submitter Inborn genetic diseases
- p.Met120Ile Single submitter Suleiman-El-Hattab syndrome ⚠
- p.Phe191Leu Single submitter Inborn genetic diseases ⚠
- p.Pro139Ala Single submitter ⚠
- p.Pro184Leu Single submitter Inborn genetic diseases ⚠
- p.Pro355Thr Single submitter Inborn genetic diseases ⚠
- p.Ser252Asn Single submitter ⚠
- p.Ser54Ala Single submitter Inborn genetic diseases ⚠
- p.Ser9Phe Single submitter Inborn genetic diseases ⚠
- p.Thr188Ile Single submitter Inborn genetic diseases ⚠
- p.Thr211Ala Single submitter Inborn genetic diseases ⚠
- p.Thr231Ala Single submitter Inborn genetic diseases ⚠
- p.Thr278Ser Single submitter Inborn genetic diseases ⚠
- p.Thr391Ser Single submitter Inborn genetic diseases ⚠
- p.Tyr171Ser Single submitter Inborn genetic diseases ⚠
- p.Tyr36Cys Single submitter Inborn genetic diseases ⚠
- p.Val343Met No assertion criteria ⚠