ASTL — 89 ClinVar variants
All ClinVar germline ASTL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 72 flagged for review →
1 Pathogenic · 3 Benign · 13 Likely benign · 72 Uncertain significance
Full ASTL gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 72
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 65
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ASTL p.Ala125Glu Uncertain significance Single submitter
- ASTL p.Ala125Val Uncertain significance Single submitter
- ASTL p.Ala24Pro Uncertain significance Single submitter
- ASTL p.Ala24Val Uncertain significance Single submitter
- ASTL p.Ala318Val Uncertain significance Single submitter
- ASTL p.Ala31Thr Uncertain significance Single submitter
- ASTL p.Ala330Val Uncertain significance Single submitter
- ASTL p.Ala367Pro Uncertain significance Single submitter
- ASTL p.Ala57Val Uncertain significance Single submitter
- ASTL p.Arg134Ser Uncertain significance Single submitter
- ASTL p.Arg177Gln Uncertain significance Single submitter
- ASTL p.Arg274Gln Uncertain significance Single submitter
- ASTL p.Arg289Cys Uncertain significance Single submitter
- ASTL p.Arg311Trp Uncertain significance Single submitter
- ASTL p.Arg85Gln Uncertain significance Single submitter
- ASTL p.Asn423His Uncertain significance Single submitter
- ASTL p.Asp231Asn Uncertain significance Single submitter
- ASTL p.Cys172Phe Uncertain significance Single submitter
- ASTL p.Cys172Tyr Uncertain significance Single submitter
- ASTL p.Cys30Phe Uncertain significance Single submitter
- ASTL p.Cys30Tyr Uncertain significance Single submitter
- ASTL p.Gln222His Uncertain significance Single submitter
- ASTL p.Gln60Arg Uncertain significance Single submitter
- ASTL p.Glu209Gln Uncertain significance Single submitter
- ASTL p.Glu319Gly Uncertain significance Single submitter
- ASTL p.Glu319Lys Uncertain significance Single submitter
- ASTL p.Gly280Ser Uncertain significance Single submitter
- ASTL p.Gly340Arg Uncertain significance Single submitter
- ASTL p.Gly380Ser Uncertain significance Single submitter
- ASTL p.Gly418Asp Uncertain significance Single submitter
- ASTL p.Gly51Arg Uncertain significance Single submitter
- ASTL p.Gly51Glu Uncertain significance Single submitter
- ASTL p.Gly6Val Uncertain significance Single submitter
- ASTL p.Gly97Asp Uncertain significance Single submitter
- ASTL p.His237Arg Uncertain significance Single submitter
- ASTL p.Ile120Thr Uncertain significance Single submitter
- ASTL p.Ile210Val Uncertain significance Single submitter
- ASTL p.Ile216Val Uncertain significance Single submitter
- ASTL p.Ile251Val Uncertain significance Single submitter
- ASTL p.Ile404Phe Uncertain significance Single submitter
- ASTL p.Leu309Met Uncertain significance Single submitter
- ASTL p.Lys53Asn Uncertain significance Single submitter
- ASTL p.Met150Thr Uncertain significance Single submitter
- ASTL p.Phe243Leu Uncertain significance Single submitter
- ASTL p.Phe38Leu Uncertain significance Single submitter
- ASTL p.Phe425Tyr Uncertain significance Single submitter
- ASTL p.Phe72Val Uncertain significance Single submitter
- ASTL p.Pro288Leu Uncertain significance Single submitter
- ASTL p.Pro304Gln Uncertain significance Single submitter
- ASTL p.Pro325Ala Uncertain significance Single submitter
- ASTL p.Pro379Leu Uncertain significance Single submitter
- ASTL p.Pro416Thr Uncertain significance Single submitter
- ASTL p.Pro56Leu Uncertain significance Single submitter
- ASTL p.Ser221Pro Uncertain significance Single submitter
- ASTL p.Ser258Asn Uncertain significance Single submitter
- ASTL p.Ser301Asn Uncertain significance Single submitter
- ASTL p.Ser372Thr Uncertain significance Single submitter
- ASTL p.Ser399Tyr Uncertain significance Single submitter
- ASTL p.Ser412Asn Uncertain significance Single submitter
- ASTL p.Ser50Cys Uncertain significance Single submitter
- ASTL p.Thr396Ala Uncertain significance Single submitter
- ASTL p.Thr43Ile Uncertain significance Single submitter
- ASTL p.Trp346Arg Uncertain significance Single submitter
- ASTL p.Val335Ile Uncertain significance Single submitter
- ASTL p.Val4Ile Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- ASTL p.Arg159Cys Uncertain significance Single submitter
- ASTL p.Arg177Trp Uncertain significance Single submitter
- ASTL p.Arg204Cys Likely benign Single submitter
- ASTL p.Leu17Met Uncertain significance Single submitter
- ASTL p.Ser156Arg Uncertain significance Single submitter
- ASTL p.Ser223Arg Uncertain significance Single submitter
- ASTL p.Val259Asp Uncertain significance Single submitter
All ASTL variants
Pathogenic 1
- c.456-1G>A No assertion criteria oocyte maturation defect 11
Benign 3
- p.Arg291Lys Single submitter
- p.Met428fs Single submitter
- p.Ser155= Single submitter
Likely benign 13
- c.337+17C>T Single submitter
- p.Ala303= Single submitter
- p.Arg204Cys Single submitter ⚠
- p.Glu114Lys Single submitter
- p.Gly3Ser Single submitter
- p.Ile79Val Single submitter
- p.Lys352Arg Single submitter
- p.Pro304= Single submitter
- p.Pro304Leu Single submitter
- p.Ser317Leu Single submitter
- p.Ser348Pro Single submitter
- p.Ser429Pro Single submitter
- p.Ser99Gly Single submitter
Uncertain significance 72
- p.Ala125Glu Single submitter ⚠
- p.Ala125Val Single submitter ⚠
- p.Ala24Pro Single submitter ⚠
- p.Ala24Val Single submitter ⚠
- p.Ala318Val Single submitter ⚠
- p.Ala31Thr Single submitter ⚠
- p.Ala330Val Single submitter ⚠
- p.Ala367Pro Single submitter ⚠
- p.Ala57Val Single submitter ⚠
- p.Arg134Ser Single submitter ⚠
- p.Arg159Cys Single submitter ⚠
- p.Arg177Gln Single submitter ⚠
- p.Arg177Trp Single submitter ⚠
- p.Arg274Gln Single submitter ⚠
- p.Arg289Cys Single submitter ⚠
- p.Arg311Trp Single submitter ⚠
- p.Arg85Gln Single submitter ⚠
- p.Asn423His Single submitter ⚠
- p.Asp231Asn Single submitter ⚠
- p.Cys172Phe Single submitter ⚠
- p.Cys172Tyr Single submitter ⚠
- p.Cys30Phe Single submitter ⚠
- p.Cys30Tyr Single submitter ⚠
- p.Gln222His Single submitter ⚠
- p.Gln60Arg Single submitter ⚠
- p.Glu209Gln Single submitter ⚠
- p.Glu319Gly Single submitter ⚠
- p.Glu319Lys Single submitter ⚠
- p.Gly280Ser Single submitter ⚠
- p.Gly340Arg Single submitter ⚠
- p.Gly380Ser Single submitter ⚠
- p.Gly418Asp Single submitter ⚠
- p.Gly51Arg Single submitter ⚠
- p.Gly51Glu Single submitter ⚠
- p.Gly6Val Single submitter ⚠
- p.Gly97Asp Single submitter ⚠
- p.His237Arg Single submitter ⚠
- p.Ile120Thr Single submitter ⚠
- p.Ile210Val Single submitter ⚠
- p.Ile216Val Single submitter ⚠
- p.Ile251Val Single submitter ⚠
- p.Ile404Phe Single submitter ⚠
- p.Leu17Met Single submitter ⚠
- p.Leu309Met Single submitter ⚠
- p.Lys53Asn Single submitter ⚠
- p.Met150Thr Single submitter ⚠
- p.Met1Val Single submitter
- p.Phe243Leu Single submitter ⚠
- p.Phe38Leu Single submitter ⚠
- p.Phe425Tyr Single submitter ⚠
- p.Phe72Val Single submitter ⚠
- p.Pro288Leu Single submitter ⚠
- p.Pro304Gln Single submitter ⚠
- p.Pro325Ala Single submitter ⚠
- p.Pro379Leu Single submitter ⚠
- p.Pro416Thr Single submitter ⚠
- p.Pro56Leu Single submitter ⚠
- p.Ser156Arg Single submitter ⚠
- p.Ser221Pro Single submitter ⚠
- p.Ser223Arg Single submitter ⚠
- p.Ser258Asn Single submitter ⚠
- p.Ser301Asn Single submitter ⚠
- p.Ser372Thr Single submitter ⚠
- p.Ser399Tyr Single submitter ⚠
- p.Ser412Asn Single submitter ⚠
- p.Ser50Cys Single submitter ⚠
- p.Thr396Ala Single submitter ⚠
- p.Thr43Ile Single submitter ⚠
- p.Trp346Arg Single submitter ⚠
- p.Val259Asp Single submitter ⚠
- p.Val335Ile Single submitter ⚠
- p.Val4Ile Single submitter ⚠