ASTN1 — 174 ClinVar variants

All ClinVar germline ASTN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.

2 Likely pathogenic · 2 Conflicting · 14 Likely benign · 156 Uncertain significance

Full ASTN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

All ASTN1 variants

Likely pathogenic 2

p.Arg1112Ter Single submitter
p.Gly742Arg Single submitter Abnormal brain morphology

Conflicting classifications of pathogenicity 2

p.Met1095Leu Single submitter Abnormal corpus callosum morphology
p.Thr1030Met Single submitter

Likely benign 14

c.2671+6T>C Single submitter
p.Ala18= Single submitter
p.Arg1273Ser Single submitter
p.Glu1293Gly Single submitter
p.Gly5Arg Single submitter
p.Gly685= Single submitter
p.Ile702Val Single submitter
p.Pro443= Single submitter
p.Pro509= Single submitter
p.Ser920= Single submitter
p.Thr1275= Single submitter
p.Thr22= Single submitter
p.Arg1245His No assertion criteria ASTN1-related disorder
p.Arg500= No assertion criteria EBV-positive nodal T- and NK-cell lymphoma

Uncertain significance 156

p.Asp1150Tyr Multiple submitters
p.His419Asn Multiple submitters
p.Ser290Gly Multiple submitters
p.Ala2Thr Single submitter
p.Ala353Val Single submitter
p.Ala669Glu Single submitter
p.Ala669Val Single submitter
p.Ala847Thr Single submitter
p.Ala926Val Single submitter
p.Arg1060Cys Single submitter
p.Arg1060His Single submitter
p.Arg109Ser Single submitter
p.Arg1135Lys Single submitter
p.Arg1190Gln Single submitter
p.Arg1244Gln Single submitter
p.Arg1254Cys Single submitter
p.Arg1270Gln Single submitter
p.Arg178Trp Single submitter
p.Arg184His Single submitter
p.Arg234Gln Single submitter
p.Arg250Cys Single submitter
p.Arg331Gly Single submitter
p.Arg369Lys Single submitter
p.Arg371Cys Single submitter
p.Arg371His Single submitter
p.Arg49Ser Single submitter
p.Arg500Trp Single submitter
p.Arg517Gln Single submitter
p.Arg616His Single submitter
p.Arg646His Single submitter
p.Arg697His Single submitter
p.Arg756Gly Single submitter
p.Arg812Trp Single submitter
p.Arg880Gln Single submitter
p.Arg901Trp Single submitter
p.Arg930His Single submitter
p.Asn1129Ser Single submitter
p.Asn334Asp Single submitter
p.Asn382Ser Single submitter
p.Asn560Ser Single submitter
p.Asn831Ser Single submitter
p.Asp102Asn Single submitter
p.Asp1083His Single submitter
p.Asp1128Glu Single submitter
p.Asp1138Asn Single submitter
p.Asp1150Asn Single submitter
p.Asp126Gly Single submitter
p.Asp26Ala Single submitter
p.Asp423Glu Single submitter
p.Asp52Tyr Single submitter
p.Asp673Gly Single submitter
p.Asp674Gly Single submitter
p.Asp695Gly Single submitter
p.Asp850Gly Single submitter
p.Cys169Ser Single submitter
p.Cys257Gly Single submitter
p.Gln1053His Single submitter
p.Gln190Lys Single submitter
p.Gln474Glu Single submitter
p.Gln760Arg Single submitter
p.Gln983Lys Single submitter
p.Glu1257Lys Single submitter
p.Glu148Asp Single submitter
p.Glu478Lys Single submitter
p.Glu556Lys Single submitter
p.Glu962Val Single submitter
p.Gly241Asp Single submitter
p.Gly241Ser Single submitter
p.Gly347Glu Single submitter
p.Gly693Asp Single submitter
p.His924Tyr Single submitter Abnormal corpus callosum morphology
p.Ile1283Asn Single submitter
p.Ile154Met Single submitter
p.Ile246Asn Single submitter
p.Ile246Val Single submitter
p.Ile389Val Single submitter
p.Ile396Thr Single submitter
p.Ile702Phe Single submitter
p.Ile861Val Single submitter
p.Leu53Pro Single submitter
p.Leu557Met Single submitter
p.Leu718Arg Single submitter
p.Lys1072Gln Single submitter
p.Lys1249Asn Single submitter
p.Lys330Arg Single submitter
p.Lys36Glu Single submitter
p.Lys746Thr Single submitter
p.Lys965Gln Single submitter
p.Met542Val Single submitter
p.Met569Leu Single submitter
p.Met572Leu Single submitter
p.Met637Thr Single submitter
p.Met815Ile Single submitter
p.Met987Arg Single submitter
p.Phe725Leu Single submitter
p.Phe797Leu Single submitter
p.Phe92Val Single submitter
p.Pro1284Leu Single submitter
p.Pro132Leu Single submitter
p.Pro16Ala Single submitter
p.Pro29Ser Single submitter
p.Pro357Thr Single submitter
p.Pro527Arg Single submitter
p.Pro600Leu Single submitter
p.Pro600Ser Single submitter
p.Pro64Leu Single submitter
p.Pro672Leu Single submitter
p.Pro955Ala Single submitter
p.Ser1247Leu Single submitter
p.Ser1291Arg Single submitter
p.Ser130Arg Single submitter
p.Ser326Gly Single submitter
p.Ser372Arg Single submitter
p.Ser438Arg Single submitter
p.Ser54Gly Single submitter
p.Ser562Pro Single submitter
p.Ser612Arg Single submitter
p.Ser640Arg Single submitter
p.Ser715Thr Single submitter
p.Ser893Phe Single submitter
p.Ser935Gly Single submitter
p.Ser941Leu Single submitter
p.Ser942Thr Single submitter
p.Thr1123Met Single submitter
p.Thr176Ala Single submitter
p.Thr22Pro Single submitter
p.Thr269Met Single submitter
p.Thr385Ile Single submitter
p.Thr505Arg Single submitter
p.Thr584Ile Single submitter
p.Thr676Asn Single submitter
p.Thr915Asn Single submitter
p.Thr922Ser Single submitter
p.Thr954Ile Single submitter
p.Thr978Ala Single submitter
p.Tyr1167His Single submitter
p.Tyr678Cys Single submitter
p.Val1025Leu Single submitter
p.Val1031Leu Single submitter
p.Val1082Ala Single submitter
p.Val1139Met Single submitter
p.Val1141Leu Single submitter
p.Val1141Met Single submitter
p.Val1148Met Single submitter
p.Val19Gly Single submitter
p.Val207Met Single submitter
p.Val27Met Single submitter
p.Val404Ile Single submitter
p.Val409Ile Single submitter
p.Val593Phe Single submitter
p.Val629Met Single submitter
p.Val768Met Single submitter
p.Val93Leu Single submitter
p.Val963Leu Single submitter
p.Val998Ile Single submitter
p.Leu1114Val No assertion criteria