ASNSD1 — 79 ClinVar variants
All ClinVar germline ASNSD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 69 flagged for review →
5 Likely benign · 74 Uncertain significance
Full ASNSD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 69
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 53
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ASNSD1 p.Ala224Ser Uncertain significance Single submitter
- ASNSD1 p.Ala293Val Uncertain significance Single submitter
- ASNSD1 p.Ala393Gly Uncertain significance Single submitter
- ASNSD1 p.Ala411Val Uncertain significance Single submitter
- ASNSD1 p.Ala501Val Uncertain significance Single submitter
- ASNSD1 p.Arg135Thr Uncertain significance Single submitter
- ASNSD1 p.Arg140Cys Uncertain significance Single submitter
- ASNSD1 p.Arg140His Uncertain significance Single submitter
- ASNSD1 p.Arg30Gln Uncertain significance Single submitter
- ASNSD1 p.Arg341His Uncertain significance Single submitter
- ASNSD1 p.Arg423Gln Uncertain significance Single submitter
- ASNSD1 p.Arg505Cys Uncertain significance Single submitter
- ASNSD1 p.Arg69Ser Uncertain significance Single submitter
- ASNSD1 p.Asn213Asp Uncertain significance Single submitter
- ASNSD1 p.Asn353His Uncertain significance Single submitter
- ASNSD1 p.Asp350Gly Uncertain significance Single submitter
- ASNSD1 p.Asp457Ala Uncertain significance Single submitter
- ASNSD1 p.Asp538Val Uncertain significance Single submitter
- ASNSD1 p.Gln195His Uncertain significance Single submitter
- ASNSD1 p.Gln477Arg Uncertain significance Single submitter
- ASNSD1 p.Gln628Leu Uncertain significance Single submitter
- ASNSD1 p.Glu13Gln Uncertain significance Single submitter
- ASNSD1 p.Gly177Arg Uncertain significance Single submitter
- ASNSD1 p.Gly461Ala Uncertain significance Single submitter
- ASNSD1 p.Gly472Cys Uncertain significance Single submitter
- ASNSD1 p.Gly82Val Uncertain significance Single submitter
- ASNSD1 p.His506Arg Uncertain significance Single submitter
- ASNSD1 p.Ile122Val Uncertain significance Single submitter
- ASNSD1 p.Ile287Val Uncertain significance Single submitter
- ASNSD1 p.Ile349Val Uncertain significance Single submitter
- ASNSD1 p.Ile424Asn Uncertain significance Single submitter
- ASNSD1 p.Ile460Val Uncertain significance Single submitter
- ASNSD1 p.Ile494Val Uncertain significance Single submitter
- ASNSD1 p.Ile610Val Uncertain significance Single submitter
- ASNSD1 p.Ile616Val Uncertain significance Single submitter
- ASNSD1 p.Leu38Ser Uncertain significance Single submitter
- ASNSD1 p.Leu598Phe Uncertain significance Single submitter
- ASNSD1 p.Lys387Glu Uncertain significance Single submitter
- ASNSD1 p.Lys569Asn Uncertain significance Single submitter
- ASNSD1 p.Lys623Glu Uncertain significance Single submitter
- ASNSD1 p.Met279Val Uncertain significance Single submitter
- ASNSD1 p.Met630Val Uncertain significance Single submitter
- ASNSD1 p.Phe154Leu Uncertain significance Single submitter
- ASNSD1 p.Phe367Cys Uncertain significance Single submitter
- ASNSD1 p.Phe96Leu Uncertain significance Single submitter
- ASNSD1 p.Pro174Ala Uncertain significance Single submitter
- ASNSD1 p.Ser608Thr Uncertain significance Single submitter
- ASNSD1 p.Ser81Arg Uncertain significance Single submitter
- ASNSD1 p.Thr163Ile Uncertain significance Single submitter
- ASNSD1 p.Trp465Cys Uncertain significance Single submitter
- ASNSD1 p.Val277Ala Uncertain significance Single submitter
- ASNSD1 p.Val53Ile Uncertain significance Single submitter
- ASNSD1 p.Val85Leu Uncertain significance Single submitter
Predictors split 16
The independent predictors disagree with each other — read with care.
- ASNSD1 p.Ala463Gly Uncertain significance Single submitter
- ASNSD1 p.Arg507Cys Uncertain significance Single submitter
- ASNSD1 p.Arg507His Uncertain significance Single submitter
- ASNSD1 p.Arg576Gln Uncertain significance Single submitter
- ASNSD1 p.Arg626Trp Uncertain significance Single submitter
- ASNSD1 p.Glu268Lys Uncertain significance Single submitter
- ASNSD1 p.Gly542Val Uncertain significance Single submitter
- ASNSD1 p.His342Arg Uncertain significance Single submitter
- ASNSD1 p.Phe121Leu Uncertain significance Single submitter
- ASNSD1 p.Phe466Leu Uncertain significance Single submitter
- ASNSD1 p.Pro198Thr Uncertain significance Single submitter
- ASNSD1 p.Pro565Leu Uncertain significance Single submitter
- ASNSD1 p.Ser176Pro Uncertain significance Single submitter
- ASNSD1 p.Ser563Tyr Uncertain significance Single submitter
- ASNSD1 p.Thr573Pro Uncertain significance Single submitter
- ASNSD1 p.Tyr483Cys Uncertain significance Single submitter
All ASNSD1 variants
Likely benign 5
- c.-226C>T Single submitter
- p.Arg450Trp Single submitter
- p.Asn310Ser Single submitter
- p.Glu359Lys Single submitter
- p.Val401Phe Single submitter
Uncertain significance 74
- p.Ala224Ser Single submitter ⚠
- p.Ala293Val Single submitter ⚠
- p.Ala393Gly Single submitter ⚠
- p.Ala411Val Single submitter ⚠
- p.Ala463Gly Single submitter ⚠
- p.Ala501Val Single submitter ⚠
- p.Ala588Thr Single submitter
- p.Arg135Thr Single submitter ⚠
- p.Arg140Cys Single submitter ⚠
- p.Arg140His Single submitter ⚠
- p.Arg30Gln Single submitter ⚠
- p.Arg341His Single submitter ⚠
- p.Arg410Ser Single submitter
- p.Arg423Gln Single submitter ⚠
- p.Arg505Cys Single submitter ⚠
- p.Arg507Cys Single submitter ⚠
- p.Arg507His Single submitter ⚠
- p.Arg528Gln Single submitter
- p.Arg576Gln Single submitter ⚠
- p.Arg602Gln Single submitter
- p.Arg626Trp Single submitter ⚠
- p.Arg69Ser Single submitter ⚠
- p.Asn213Asp Single submitter ⚠
- p.Asn353His Single submitter ⚠
- p.Asp350Gly Single submitter ⚠
- p.Asp457Ala Single submitter ⚠
- p.Asp538Val Single submitter ⚠
- p.Gln195His Single submitter ⚠
- p.Gln477Arg Single submitter ⚠
- p.Gln628Leu Single submitter ⚠
- p.Glu13Gln Single submitter ⚠
- p.Glu268Lys Single submitter ⚠
- p.Gly177Arg Single submitter ⚠
- p.Gly461Ala Single submitter ⚠
- p.Gly472Cys Single submitter ⚠
- p.Gly542Val Single submitter ⚠
- p.Gly82Val Single submitter ⚠
- p.His342Arg Single submitter ⚠
- p.His506Arg Single submitter ⚠
- p.Ile122Val Single submitter ⚠
- p.Ile287Val Single submitter ⚠
- p.Ile349Val Single submitter ⚠
- p.Ile424Asn Single submitter ⚠
- p.Ile460Val Single submitter ⚠
- p.Ile494Val Single submitter ⚠
- p.Ile610Val Single submitter ⚠
- p.Ile616Val Single submitter ⚠
- p.Leu38Ser Single submitter ⚠
- p.Leu598Phe Single submitter ⚠
- p.Lys387Glu Single submitter ⚠
- p.Lys569Asn Single submitter ⚠
- p.Lys623Glu Single submitter ⚠
- p.Met279Val Single submitter ⚠
- p.Met630Val Single submitter ⚠
- p.Phe121Leu Single submitter ⚠
- p.Phe154Leu Single submitter ⚠
- p.Phe367Cys Single submitter ⚠
- p.Phe466Leu Single submitter ⚠
- p.Phe96Leu Single submitter ⚠
- p.Pro174Ala Single submitter ⚠
- p.Pro198Thr Single submitter ⚠
- p.Pro565Arg Single submitter
- p.Pro565Leu Single submitter ⚠
- p.Ser176Pro Single submitter ⚠
- p.Ser563Tyr Single submitter ⚠
- p.Ser608Thr Single submitter ⚠
- p.Ser81Arg Single submitter ⚠
- p.Thr163Ile Single submitter ⚠
- p.Thr573Pro Single submitter ⚠
- p.Trp465Cys Single submitter ⚠
- p.Tyr483Cys Single submitter ⚠
- p.Val277Ala Single submitter ⚠
- p.Val53Ile Single submitter ⚠
- p.Val85Leu Single submitter ⚠