ASPNAT — 80 ClinVar variants
All ClinVar germline ASPNAT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 62 flagged for review →
3 Benign · 13 Likely benign · 64 Uncertain significance
Full ASPNAT gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 62
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 39
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ASPNAT p.Ala125Thr Uncertain significance Single submitter
- ASPNAT p.Ala225Thr Uncertain significance Single submitter
- ASPNAT p.Ala22Val Uncertain significance Single submitter
- ASPNAT p.Ala255Thr Uncertain significance Single submitter
- ASPNAT p.Ala50Pro Uncertain significance Single submitter
- ASPNAT p.Arg154Cys Uncertain significance Single submitter
- ASPNAT p.Arg158Cys Uncertain significance Single submitter
- ASPNAT p.Arg230Gln Uncertain significance Single submitter
- ASPNAT p.Arg285Cys Uncertain significance Single submitter
- ASPNAT p.Arg291Cys Uncertain significance Single submitter
- ASPNAT p.Arg294His Uncertain significance Single submitter
- ASPNAT p.Asp29Asn Uncertain significance Single submitter
- ASPNAT p.Gln62Glu Uncertain significance Single submitter
- ASPNAT p.Glu18Gly Uncertain significance Single submitter
- ASPNAT p.Gly36Ser Uncertain significance Single submitter
- ASPNAT p.Gly47Ala Uncertain significance Single submitter
- ASPNAT p.Gly68Ala Uncertain significance Single submitter
- ASPNAT p.Gly69Ser Uncertain significance Single submitter
- ASPNAT p.Gly71Ala Uncertain significance Single submitter
- ASPNAT p.Gly74Arg Uncertain significance Single submitter
- ASPNAT p.His272Arg Uncertain significance Single submitter
- ASPNAT p.His64Arg Uncertain significance Single submitter
- ASPNAT p.Ile224Val Uncertain significance Single submitter
- ASPNAT p.Leu124Val Uncertain significance Single submitter
- ASPNAT p.Leu275Met Uncertain significance Single submitter
- ASPNAT p.Leu286Val Uncertain significance Single submitter
- ASPNAT p.Leu32Arg Uncertain significance Single submitter
- ASPNAT p.Lys155Arg Uncertain significance Single submitter
- ASPNAT p.Met169Thr Uncertain significance Single submitter
- ASPNAT p.Met177Val Uncertain significance Single submitter
- ASPNAT p.Met38Thr Uncertain significance Single submitter
- ASPNAT p.Pro24Arg Uncertain significance Single submitter
- ASPNAT p.Pro53Ala Uncertain significance Single submitter
- ASPNAT p.Pro5Ser Uncertain significance Single submitter
- ASPNAT p.Pro6Thr Uncertain significance Single submitter
- ASPNAT p.Thr138Ser Uncertain significance Single submitter
- ASPNAT p.Val15Leu Uncertain significance Single submitter
- ASPNAT p.Val193Met Uncertain significance Single submitter
- ASPNAT p.Val253Met Uncertain significance Single submitter
Predictors split 23
The independent predictors disagree with each other — read with care.
- ASPNAT p.Ala30Thr Uncertain significance Single submitter
- ASPNAT p.Ala37Val Uncertain significance Single submitter
- ASPNAT p.Ala44Thr Uncertain significance Single submitter
- ASPNAT p.Ala58Thr Uncertain significance Single submitter
- ASPNAT p.Arg116His Uncertain significance Single submitter
- ASPNAT p.Arg296His Uncertain significance Single submitter
- ASPNAT p.Arg300His Uncertain significance Single submitter
- ASPNAT p.Glu11Lys Uncertain significance Single submitter
- ASPNAT p.Gly74Val Uncertain significance Single submitter
- ASPNAT p.Ile224Leu Uncertain significance Single submitter
- ASPNAT p.Leu120Val Uncertain significance Single submitter
- ASPNAT p.Leu140Val Uncertain significance Single submitter
- ASPNAT p.Pro115Arg Uncertain significance Single submitter
- ASPNAT p.Pro115Leu Uncertain significance Single submitter
- ASPNAT p.Pro41Leu Uncertain significance Single submitter
- ASPNAT p.Pro52Ser Uncertain significance Single submitter
- ASPNAT p.Pro56Ser Uncertain significance Single submitter
- ASPNAT p.Pro59Arg Uncertain significance Single submitter
- ASPNAT p.Pro59Leu Uncertain significance Single submitter
- ASPNAT p.Pro59Ser Uncertain significance Single submitter
- ASPNAT p.Val188Met Uncertain significance Single submitter
- ASPNAT p.Val78Met Uncertain significance Single submitter
-
ASPNAT p.Glu301Lys
Uncertain significance
No assertion criteria
microcephaly
All ASPNAT variants
Benign 3
- c.541+8C>T Multiple submitters
- p.Arg81= Single submitter
- p.Leu32= No assertion criteria NAT8L-related disorder
Likely benign 13
- p.Ala35= Multiple submitters
- p.Gly263= Multiple submitters
- p.Pro56= Multiple submitters
- c.376+14G>A Single submitter
- p.Ala144Val Single submitter
- p.Ala227= Single submitter
- p.Ala269Ser Single submitter
- p.Gly75= Single submitter
- p.Ile224= Single submitter
- p.Phe235= Single submitter
- p.Pro115= Single submitter
- p.Val237Leu Single submitter
- c.541+7C>T No assertion criteria NAT8L-related disorder
Uncertain significance 64
- p.Ala125Thr Single submitter ⚠
- p.Ala225Thr Single submitter ⚠
- p.Ala22Val Single submitter ⚠
- p.Ala255Thr Single submitter ⚠
- p.Ala30Thr Single submitter ⚠
- p.Ala37Val Single submitter ⚠
- p.Ala44Thr Single submitter ⚠
- p.Ala50Pro Single submitter ⚠
- p.Ala58Thr Single submitter ⚠
- p.Arg116His Single submitter ⚠
- p.Arg154Cys Single submitter ⚠
- p.Arg158Cys Single submitter ⚠
- p.Arg230Gln Single submitter ⚠
- p.Arg285Cys Single submitter ⚠
- p.Arg291Cys Single submitter ⚠
- p.Arg294His Single submitter ⚠
- p.Arg296His Single submitter ⚠
- p.Arg300His Single submitter ⚠
- p.Asp29Asn Single submitter ⚠
- p.Gln62Glu Single submitter ⚠
- p.Glu11Lys Single submitter ⚠
- p.Glu18Gly Single submitter ⚠
- p.Glu234= Single submitter
- p.Gly36Ser Single submitter ⚠
- p.Gly47Ala Single submitter ⚠
- p.Gly68Ala Single submitter ⚠
- p.Gly69Ser Single submitter ⚠
- p.Gly71Ala Single submitter ⚠
- p.Gly74Arg Single submitter ⚠
- p.Gly74Val Single submitter ⚠
- p.His272Arg Single submitter ⚠
- p.His64Arg Single submitter ⚠
- p.Ile224Leu Single submitter ⚠
- p.Ile224Val Single submitter ⚠
- p.Leu120Val Single submitter ⚠
- p.Leu124Val Single submitter ⚠
- p.Leu140Val Single submitter ⚠
- p.Leu275Met Single submitter ⚠
- p.Leu286Val Single submitter ⚠
- p.Leu32Arg Single submitter ⚠
- p.Lys155Arg Single submitter ⚠
- p.Met169Thr Single submitter ⚠
- p.Met177Val Single submitter ⚠
- p.Met38Thr Single submitter ⚠
- p.Pro115Arg Single submitter ⚠
- p.Pro115Leu Single submitter ⚠
- p.Pro24Arg Single submitter ⚠
- p.Pro41Leu Single submitter ⚠
- p.Pro52Ser Single submitter ⚠
- p.Pro53Ala Single submitter ⚠
- p.Pro56Ser Single submitter ⚠
- p.Pro59Arg Single submitter ⚠
- p.Pro59Leu Single submitter ⚠
- p.Pro59Ser Single submitter ⚠
- p.Pro5Ser Single submitter ⚠
- p.Pro6Thr Single submitter ⚠
- p.Thr138Ser Single submitter ⚠
- p.Val15Leu Single submitter ⚠
- p.Val188Met Single submitter ⚠
- p.Val193Met Single submitter ⚠
- p.Val245fs Single submitter
- p.Val253Met Single submitter ⚠
- p.Val78Met Single submitter ⚠
- p.Glu301Lys No assertion criteria microcephaly ⚠