ASTN2 — 244 ClinVar variants
All ClinVar germline ASTN2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 197 flagged for review →
23 Benign · 1 Benign/Likely benign · 28 Likely benign · 192 Uncertain significance
Full ASTN2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 197
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 109
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ASTN2 p.Ala1284Thr Uncertain significance Single submitter
- ASTN2 p.Ala154Ser Uncertain significance Single submitter
- ASTN2 p.Ala188Thr Uncertain significance Single submitter
- ASTN2 p.Ala305Val Uncertain significance Single submitter
- ASTN2 p.Ala4Gly Uncertain significance Single submitter
- ASTN2 p.Ala521Ser Uncertain significance Single submitter
- ASTN2 p.Ala633Val Uncertain significance Single submitter
- ASTN2 p.Arg1009Ser Uncertain significance Single submitter
- ASTN2 p.Arg1141Gln Uncertain significance Single submitter
- ASTN2 p.Arg1268Gln Uncertain significance Single submitter
- ASTN2 p.Arg1282Gln Uncertain significance Single submitter
- ASTN2 p.Arg1289His Uncertain significance Single submitter
- ASTN2 p.Arg130Cys Uncertain significance Single submitter
- ASTN2 p.Arg130Leu Uncertain significance Single submitter
- ASTN2 p.Arg1339Gln Uncertain significance Single submitter
- ASTN2 p.Arg419His Uncertain significance Single submitter
- ASTN2 p.Arg57Gly Uncertain significance Single submitter
- ASTN2 p.Arg657Gln Uncertain significance Single submitter
- ASTN2 p.Arg664His Uncertain significance Single submitter
- ASTN2 p.Arg784Trp Uncertain significance Single submitter
- ASTN2 p.Arg826Pro Uncertain significance Single submitter
- ASTN2 p.Arg991Cys Uncertain significance Single submitter
- ASTN2 p.Arg992Gln Uncertain significance Single submitter
- ASTN2 p.Asn277Asp Uncertain significance Single submitter
- ASTN2 p.Asn504His Uncertain significance Single submitter
- ASTN2 p.Asn611His Uncertain significance Single submitter
- ASTN2 p.Asn643Asp Uncertain significance Single submitter
- ASTN2 p.Asn879Ser Uncertain significance Single submitter
- ASTN2 p.Asp1044Asn Uncertain significance Single submitter
- ASTN2 p.Asp1100Asn Uncertain significance Single submitter
- ASTN2 p.Asp1113Glu Uncertain significance Single submitter
- ASTN2 p.Asp407Asn Uncertain significance Single submitter
- ASTN2 p.Asp490Asn Uncertain significance Single submitter
- ASTN2 p.Gln182Lys Uncertain significance Single submitter
- ASTN2 p.Gln230Arg Uncertain significance Single submitter
- ASTN2 p.Gln230His Uncertain significance Single submitter
- ASTN2 p.Gln263Arg Uncertain significance Single submitter
- ASTN2 p.Gln786His Uncertain significance Single submitter
- ASTN2 p.Gln898Arg Uncertain significance Single submitter
- ASTN2 p.Gln962Glu Uncertain significance Single submitter
- ASTN2 p.Glu1086Val Uncertain significance Single submitter
- ASTN2 p.Glu1301Lys Uncertain significance Single submitter
- ASTN2 p.Glu193Asp Uncertain significance Single submitter
- ASTN2 p.Glu297Asp Uncertain significance Single submitter
- ASTN2 p.Glu330Lys Uncertain significance Single submitter
- ASTN2 p.Glu576Val Uncertain significance Single submitter
- ASTN2 p.Glu78Asp Uncertain significance Single submitter
- ASTN2 p.Glu887Asp Uncertain significance Single submitter
- ASTN2 p.Gly1163Ser Uncertain significance Single submitter
- ASTN2 p.Gly1334Arg Uncertain significance Single submitter
- ASTN2 p.Gly212Val Uncertain significance Single submitter
- ASTN2 p.Gly391Arg Uncertain significance Single submitter
- ASTN2 p.Gly402Val Uncertain significance Single submitter
- ASTN2 p.Gly426Asp Uncertain significance Single submitter
- ASTN2 p.Gly972Ser Uncertain significance Single submitter
- ASTN2 p.His547Pro Uncertain significance Single submitter
- ASTN2 p.His779Arg Uncertain significance Single submitter
- ASTN2 p.Ile1205Thr Uncertain significance Single submitter
- ASTN2 p.Ile131Phe Uncertain significance Single submitter
- ASTN2 p.Ile156Val Uncertain significance Single submitter
- ASTN2 p.Ile392Val Uncertain significance Single submitter
- ASTN2 p.Leu1059Ile Uncertain significance Single submitter
- ASTN2 p.Leu1132Arg Uncertain significance Single submitter
- ASTN2 p.Leu1181Ile Uncertain significance Single submitter
- ASTN2 p.Leu322Val Uncertain significance Single submitter
- ASTN2 p.Leu459Phe Uncertain significance Single submitter
- ASTN2 p.Leu589Trp Uncertain significance Single submitter
- ASTN2 p.Lys1337Arg Uncertain significance Single submitter
- ASTN2 p.Lys332Asn Uncertain significance Single submitter
- ASTN2 p.Lys429Asn Uncertain significance Single submitter
- ASTN2 p.Lys496Thr Uncertain significance Single submitter
- ASTN2 p.Lys995Glu Uncertain significance Single submitter
- ASTN2 p.Met1226Ile Uncertain significance Single submitter
- ASTN2 p.Met1226Thr Uncertain significance Single submitter
- ASTN2 p.Met177Ile Uncertain significance Single submitter
- ASTN2 p.Met449Val Uncertain significance Single submitter
- ASTN2 p.Phe769Cys Uncertain significance Single submitter
- ASTN2 p.Pro1068Leu Uncertain significance Single submitter
- ASTN2 p.Pro302Leu Uncertain significance Single submitter
- ASTN2 p.Pro302Ser Uncertain significance Single submitter
- ASTN2 p.Pro43Leu Uncertain significance Single submitter
- ASTN2 p.Pro46Leu Uncertain significance Single submitter
- ASTN2 p.Pro626Ala Uncertain significance Single submitter
- ASTN2 p.Pro723Ser Uncertain significance Single submitter
- ASTN2 p.Pro820Leu Uncertain significance Single submitter
- ASTN2 p.Pro852Ser Uncertain significance Single submitter
- ASTN2 p.Pro921Leu Uncertain significance Single submitter
- ASTN2 p.Ser1150Gly Uncertain significance Single submitter
- ASTN2 p.Ser1279Gly Uncertain significance Single submitter
- ASTN2 p.Thr1075Ala Uncertain significance Single submitter
- ASTN2 p.Thr1224Ile Uncertain significance Single submitter
- ASTN2 p.Thr321Asn Uncertain significance Single submitter
- ASTN2 p.Thr321Ser Uncertain significance Single submitter
- ASTN2 p.Thr415Arg Uncertain significance Single submitter
- ASTN2 p.Thr637Ser Uncertain significance Single submitter
- ASTN2 p.Thr727Ser Uncertain significance Single submitter
- ASTN2 p.Thr870Ser Uncertain significance Single submitter
- ASTN2 p.Tyr1295Cys Uncertain significance Single submitter
- ASTN2 p.Tyr864His Uncertain significance Single submitter
- ASTN2 p.Val1076Leu Uncertain significance Single submitter
- ASTN2 p.Val1290Met Uncertain significance Single submitter
- ASTN2 p.Val175Ile Uncertain significance Single submitter
- ASTN2 p.Val279Phe Uncertain significance Single submitter
- ASTN2 p.Val510Leu Uncertain significance Single submitter
- ASTN2 p.Val622Ile Uncertain significance Single submitter
- ASTN2 p.Val674Met Uncertain significance Single submitter
-
ASTN2 p.Cys1036Arg
Uncertain significance
No assertion criteria
ASTN2-related disorder
-
ASTN2 p.Leu894Arg
Uncertain significance
No assertion criteria
ASTN2-related disorder
-
ASTN2 p.Lys1027Arg
Uncertain significance
No assertion criteria
ASTN2-related disorder
Predictors split 88
The independent predictors disagree with each other — read with care.
- ASTN2 p.Arg865His Benign Multiple submitters
- ASTN2 p.Met963Ile Likely benign Multiple submitters
- ASTN2 p.Ser1288Ile Likely benign Multiple submitters
- ASTN2 p.Ser257Thr Likely benign Multiple submitters
- ASTN2 p.Ser677Leu Likely benign Multiple submitters
- ASTN2 p.Thr1134Ile Benign Multiple submitters
-
ASTN2 p.Val880Gly
Uncertain significance
Multiple submitters
ASTN2-related disorder
- ASTN2 p.Ala100Thr Uncertain significance Single submitter
- ASTN2 p.Ala101Thr Uncertain significance Single submitter
- ASTN2 p.Ala1053Thr Uncertain significance Single submitter
- ASTN2 p.Ala215Val Uncertain significance Single submitter
- ASTN2 p.Ala2Thr Uncertain significance Single submitter
- ASTN2 p.Ala51Val Uncertain significance Single submitter
- ASTN2 p.Ala540Asp Uncertain significance Single submitter
- ASTN2 p.Ala633Glu Uncertain significance Single submitter
- ASTN2 p.Ala86Asp Uncertain significance Single submitter
- ASTN2 p.Ala874Gly Uncertain significance Single submitter
- ASTN2 p.Ala99Ser Uncertain significance Single submitter
- ASTN2 p.Arg1009Cys Uncertain significance Single submitter
- ASTN2 p.Arg1071Leu Uncertain significance Single submitter
- ASTN2 p.Arg1071Trp Uncertain significance Single submitter
- ASTN2 p.Arg1268Trp Uncertain significance Single submitter
- ASTN2 p.Arg1282Trp Uncertain significance Single submitter
- ASTN2 p.Arg1339Trp Uncertain significance Single submitter
- ASTN2 p.Arg19Gln Uncertain significance Single submitter
- ASTN2 p.Arg232Ser Uncertain significance Single submitter
- ASTN2 p.Arg303Met Uncertain significance Single submitter
- ASTN2 p.Arg375Cys Likely benign Single submitter
- ASTN2 p.Arg422His Uncertain significance Single submitter
- ASTN2 p.Arg423His Uncertain significance Single submitter
- ASTN2 p.Arg551His Uncertain significance Single submitter
- ASTN2 p.Arg657Trp Uncertain significance Single submitter
- ASTN2 p.Arg7Gln Uncertain significance Single submitter
- ASTN2 p.Arg7Trp Uncertain significance Single submitter
- ASTN2 p.Arg858Gln Uncertain significance Single submitter
- ASTN2 p.Arg858Trp Uncertain significance Single submitter
- ASTN2 p.Arg860Trp Uncertain significance Single submitter
- ASTN2 p.Arg890Gln Uncertain significance Single submitter
- ASTN2 p.Arg976Cys Uncertain significance Single submitter
- ASTN2 p.Asn1223Lys Uncertain significance Single submitter
- ASTN2 p.Asn782Ser Uncertain significance Single submitter
- ASTN2 p.Asp1041Val Uncertain significance Single submitter
- ASTN2 p.Asp291Asn Uncertain significance Single submitter
- ASTN2 p.Asp291Gly Uncertain significance Single submitter
- ASTN2 p.Asp298Asn Uncertain significance Single submitter
-
ASTN2 p.Asp298His
Uncertain significance
Single submitter
autosomal recessive limb-girdle muscular dystrophy type 2H
- ASTN2 p.Glu1200Gly Uncertain significance Single submitter
- ASTN2 p.Gly112Arg Uncertain significance Single submitter
- ASTN2 p.Gly1215Arg Uncertain significance Single submitter
- ASTN2 p.Gly13Asp Uncertain significance Single submitter
- ASTN2 p.Gly700Ala Uncertain significance Single submitter
- ASTN2 p.Gly736Arg Uncertain significance Single submitter
- ASTN2 p.Gly736Ser Uncertain significance Single submitter
- ASTN2 p.Gly95Trp Uncertain significance Single submitter
- ASTN2 p.His466Asn Uncertain significance Single submitter
- ASTN2 p.His988Tyr Uncertain significance Single submitter
- ASTN2 p.Ile1205Met Uncertain significance Single submitter
- ASTN2 p.Ile488Thr Uncertain significance Single submitter
- ASTN2 p.Leu40Pro Uncertain significance Single submitter
- ASTN2 p.Leu753Phe Uncertain significance Single submitter
- ASTN2 p.Leu863Phe Uncertain significance Single submitter
- ASTN2 p.Leu8His Uncertain significance Single submitter
- ASTN2 p.Leu914Phe Uncertain significance Single submitter
- ASTN2 p.Met688Thr Uncertain significance Single submitter
- ASTN2 p.Pro105Leu Uncertain significance Single submitter
- ASTN2 p.Pro28Thr Uncertain significance Single submitter
- ASTN2 p.Pro494Leu Uncertain significance Single submitter
- ASTN2 p.Pro560Thr Uncertain significance Single submitter
- ASTN2 p.Pro562Ser Uncertain significance Single submitter
- ASTN2 p.Ser1080Asn Uncertain significance Single submitter
- ASTN2 p.Ser1150Cys Uncertain significance Single submitter
- ASTN2 p.Ser1274Asn Uncertain significance Single submitter
- ASTN2 p.Ser1278Phe Uncertain significance Single submitter
- ASTN2 p.Ser598Gly Uncertain significance Single submitter
- ASTN2 p.Ser636Phe Uncertain significance Single submitter
- ASTN2 p.Ser728Trp Uncertain significance Single submitter
- ASTN2 p.Thr1015Ile Uncertain significance Single submitter
- ASTN2 p.Thr1183Met Uncertain significance Single submitter
- ASTN2 p.Thr1292Ile Uncertain significance Single submitter
- ASTN2 p.Thr1320Met Uncertain significance Single submitter
- ASTN2 p.Thr140Asn Uncertain significance Single submitter
- ASTN2 p.Thr415Met Uncertain significance Single submitter
- ASTN2 p.Thr52Asn Uncertain significance Single submitter
- ASTN2 p.Tyr1117His Uncertain significance Single submitter
- ASTN2 p.Val1003Met Uncertain significance Single submitter
-
ASTN2 p.Val159Met
Uncertain significance
Single submitter
ASTN2-related disorder
-
ASTN2 p.Lys383Gln
Likely benign
No assertion criteria
ASTN2-related disorder
-
ASTN2 p.Pro560Leu
Uncertain significance
No assertion criteria
ASTN2-related disorder
All ASTN2 variants
Benign 23
- c.1424-13C>T Multiple submitters
- c.2806+9G>A Multiple submitters
- p.Ala114= Multiple submitters
- p.Arg1282= Multiple submitters
- p.Arg865His Multiple submitters ⚠
- p.Lys235= Multiple submitters
- p.Pro1068= Multiple submitters
- p.Pro494= Multiple submitters
- p.Ser1052= Multiple submitters
- p.Ser489= Multiple submitters
- p.Thr1134Ile Multiple submitters ⚠
- p.Thr187= Multiple submitters
- p.Val1149Ile Multiple submitters
- p.Ala103dup Single submitter
- p.Ala153= Single submitter
- p.Glu266= Single submitter
- p.Thr224= Single submitter
- c.2522-3C>T No assertion criteria ASTN2-related disorder
- c.3782+9G>T No assertion criteria ASTN2-related disorder
- p.Ala874Thr No assertion criteria ASTN2-related disorder
- p.His547= No assertion criteria ASTN2-related disorder
- p.Leu221del No assertion criteria ASTN2-related disorder
- p.Ser180= No assertion criteria ASTN2-related disorder
Benign/Likely benign 1
- p.Arg419= Multiple submitters
Likely benign 28
- p.Leu8= Multiple submitters
- p.Met963Ile Multiple submitters ⚠
- p.Ser1288Ile Multiple submitters ⚠
- p.Ser257Thr Multiple submitters ⚠
- p.Ser677Leu Multiple submitters ⚠
- p.Thr1332= Multiple submitters
- p.Ala264= Single submitter
- p.Arg1009= Single submitter
- p.Arg375Cys Single submitter ⚠
- p.Asn1057Ser Single submitter
- p.Gly106= Single submitter
- p.Leu183= Single submitter
- p.Leu621= Single submitter
- p.Lys867= Single submitter
- c.2806+8C>T No assertion criteria ASTN2-related disorder
- p.Ala103del No assertion criteria ASTN2-related disorder
- p.Ala343= No assertion criteria ASTN2-related disorder
- p.Ala343Val No assertion criteria ASTN2-related disorder
- p.Asp671= No assertion criteria ASTN2-related disorder
- p.Cys750= No assertion criteria ASTN2-related disorder
- p.Cys757= No assertion criteria ASTN2-related disorder
- p.Gly181Arg No assertion criteria ASTN2-related disorder
- p.Leu142= No assertion criteria ASTN2-related disorder
- p.Lys383Gln No assertion criteria ASTN2-related disorder ⚠
- p.Pro604= No assertion criteria ASTN2-related disorder
- p.Pro820= No assertion criteria ASTN2-related disorder
- p.Thr623= No assertion criteria ASTN2-related disorder
- p.Tyr1333= No assertion criteria ASTN2-related disorder
Uncertain significance 192
- p.Val880Gly Multiple submitters ASTN2-related disorder ⚠
- c.3598+1G>A Single submitter
- p.Ala100Thr Single submitter ⚠
- p.Ala101Thr Single submitter ⚠
- p.Ala1053Thr Single submitter ⚠
- p.Ala1284Thr Single submitter ⚠
- p.Ala154Ser Single submitter ⚠
- p.Ala188Thr Single submitter ⚠
- p.Ala215Val Single submitter ⚠
- p.Ala2Thr Single submitter ⚠
- p.Ala305Val Single submitter ⚠
- p.Ala4Gly Single submitter ⚠
- p.Ala51Val Single submitter ⚠
- p.Ala521Ser Single submitter ⚠
- p.Ala540Asp Single submitter ⚠
- p.Ala633Glu Single submitter ⚠
- p.Ala633Val Single submitter ⚠
- p.Ala86Asp Single submitter ⚠
- p.Ala874Gly Single submitter ⚠
- p.Ala99Ser Single submitter ⚠
- p.Arg1009Cys Single submitter ⚠
- p.Arg1009Ser Single submitter ⚠
- p.Arg1071Leu Single submitter ⚠
- p.Arg1071Trp Single submitter ⚠
- p.Arg1141Gln Single submitter ⚠
- p.Arg1268Gln Single submitter ⚠
- p.Arg1268Trp Single submitter ⚠
- p.Arg1282Gln Single submitter ⚠
- p.Arg1282Trp Single submitter ⚠
- p.Arg1289His Single submitter ⚠
- p.Arg130Cys Single submitter ⚠
- p.Arg130Leu Single submitter ⚠
- p.Arg1339Gln Single submitter ⚠
- p.Arg1339Trp Single submitter ⚠
- p.Arg19Gln Single submitter ⚠
- p.Arg232Ser Single submitter ⚠
- p.Arg303Met Single submitter ⚠
- p.Arg419His Single submitter ⚠
- p.Arg422His Single submitter ⚠
- p.Arg423His Single submitter ⚠
- p.Arg551His Single submitter ⚠
- p.Arg57Gly Single submitter ⚠
- p.Arg657Gln Single submitter ⚠
- p.Arg657Trp Single submitter ⚠
- p.Arg664His Single submitter ⚠
- p.Arg784Trp Single submitter ⚠
- p.Arg7Gln Single submitter ⚠
- p.Arg7Trp Single submitter ⚠
- p.Arg826Pro Single submitter ⚠
- p.Arg858Gln Single submitter ⚠
- p.Arg858Trp Single submitter ⚠
- p.Arg860Trp Single submitter ⚠
- p.Arg890Gln Single submitter ⚠
- p.Arg976Cys Single submitter ⚠
- p.Arg991Cys Single submitter ⚠
- p.Arg992Gln Single submitter ⚠
- p.Asn1223Lys Single submitter ⚠
- p.Asn277Asp Single submitter ⚠
- p.Asn504His Single submitter ⚠
- p.Asn611His Single submitter ⚠
- p.Asn643Asp Single submitter ⚠
- p.Asn782Ser Single submitter ⚠
- p.Asn879Ser Single submitter ⚠
- p.Asp1041Val Single submitter ⚠
- p.Asp1044Asn Single submitter ⚠
- p.Asp1100Asn Single submitter ⚠
- p.Asp1113Glu Single submitter ⚠
- p.Asp291Asn Single submitter ⚠
- p.Asp291Gly Single submitter ⚠
- p.Asp298Asn Single submitter ⚠
- p.Asp298His Single submitter autosomal recessive limb-girdle muscular dystrophy type 2H ⚠
- p.Asp407Asn Single submitter ⚠
- p.Asp490Asn Single submitter ⚠
- p.Gln182Lys Single submitter ⚠
- p.Gln230Arg Single submitter ⚠
- p.Gln230His Single submitter ⚠
- p.Gln263Arg Single submitter ⚠
- p.Gln786His Single submitter ⚠
- p.Gln898Arg Single submitter ⚠
- p.Gln962Glu Single submitter ⚠
- p.Glu1086Val Single submitter ⚠
- p.Glu1200Gly Single submitter ⚠
- p.Glu1301Lys Single submitter ⚠
- p.Glu193Asp Single submitter ⚠
- p.Glu297Asp Single submitter ⚠
- p.Glu330Lys Single submitter ⚠
- p.Glu576Val Single submitter ⚠
- p.Glu78Asp Single submitter ⚠
- p.Glu887Asp Single submitter ⚠
- p.Gly112Arg Single submitter ⚠
- p.Gly1163Ser Single submitter ⚠
- p.Gly1215Arg Single submitter ⚠
- p.Gly1334Arg Single submitter ⚠
- p.Gly13Asp Single submitter ⚠
- p.Gly212Val Single submitter ⚠
- p.Gly391Arg Single submitter ⚠
- p.Gly402Val Single submitter ⚠
- p.Gly426Asp Single submitter ⚠
- p.Gly700Ala Single submitter ⚠
- p.Gly736Arg Single submitter ⚠
- p.Gly736Ser Single submitter ⚠
- p.Gly95Trp Single submitter ⚠
- p.Gly972Ser Single submitter ⚠
- p.His466Asn Single submitter ⚠
- p.His547Pro Single submitter ⚠
- p.His779Arg Single submitter ⚠
- p.His988Tyr Single submitter ⚠
- p.Ile1205Met Single submitter ⚠
- p.Ile1205Thr Single submitter ⚠
- p.Ile131Phe Single submitter ⚠
- p.Ile156Val Single submitter ⚠
- p.Ile392Val Single submitter ⚠
- p.Ile488Thr Single submitter ⚠
- p.Leu1059Ile Single submitter ⚠
- p.Leu1132Arg Single submitter ⚠
- p.Leu1181Ile Single submitter ⚠
- p.Leu322Val Single submitter ⚠
- p.Leu40Pro Single submitter ⚠
- p.Leu459Phe Single submitter ⚠
- p.Leu589Trp Single submitter ⚠
- p.Leu753Phe Single submitter ⚠
- p.Leu863Phe Single submitter ⚠
- p.Leu8His Single submitter ⚠
- p.Leu914Phe Single submitter ⚠
- p.Lys1337Arg Single submitter ⚠
- p.Lys332Asn Single submitter ⚠
- p.Lys429Asn Single submitter ⚠
- p.Lys496Thr Single submitter ⚠
- p.Lys995Glu Single submitter ⚠
- p.Met1226Ile Single submitter ⚠
- p.Met1226Thr Single submitter ⚠
- p.Met177Ile Single submitter ⚠
- p.Met449Val Single submitter ⚠
- p.Met688Thr Single submitter ⚠
- p.Phe769Cys Single submitter ⚠
- p.Pro105Leu Single submitter ⚠
- p.Pro1068Leu Single submitter ⚠
- p.Pro28Thr Single submitter ⚠
- p.Pro302Leu Single submitter ⚠
- p.Pro302Ser Single submitter ⚠
- p.Pro33_Leu36del Single submitter
- p.Pro43Leu Single submitter ⚠
- p.Pro46Leu Single submitter ⚠
- p.Pro494Leu Single submitter ⚠
- p.Pro560Thr Single submitter ⚠
- p.Pro562Ser Single submitter ⚠
- p.Pro626Ala Single submitter ⚠
- p.Pro723Ser Single submitter ⚠
- p.Pro820Leu Single submitter ⚠
- p.Pro852Ser Single submitter ⚠
- p.Pro921Leu Single submitter ⚠
- p.Ser1080Asn Single submitter ⚠
- p.Ser1150Cys Single submitter ⚠
- p.Ser1150Gly Single submitter ⚠
- p.Ser1274Asn Single submitter ⚠
- p.Ser1278Phe Single submitter ⚠
- p.Ser1279Gly Single submitter ⚠
- p.Ser403Ter Single submitter ASTN2-related disorder
- p.Ser598Gly Single submitter ⚠
- p.Ser636Phe Single submitter ⚠
- p.Ser728Trp Single submitter ⚠
- p.Thr1015Ile Single submitter ⚠
- p.Thr1075Ala Single submitter ⚠
- p.Thr1183Met Single submitter ⚠
- p.Thr1224Ile Single submitter ⚠
- p.Thr1292Ile Single submitter ⚠
- p.Thr1320Met Single submitter ⚠
- p.Thr140Asn Single submitter ⚠
- p.Thr321Asn Single submitter ⚠
- p.Thr321Ser Single submitter ⚠
- p.Thr415Arg Single submitter ⚠
- p.Thr415Met Single submitter ⚠
- p.Thr52Asn Single submitter ⚠
- p.Thr637Ser Single submitter ⚠
- p.Thr727Ser Single submitter ⚠
- p.Thr870Ser Single submitter ⚠
- p.Tyr1117His Single submitter ⚠
- p.Tyr1295Cys Single submitter ⚠
- p.Tyr864His Single submitter ⚠
- p.Val1003Met Single submitter ⚠
- p.Val1076Leu Single submitter ⚠
- p.Val1290Met Single submitter ⚠
- p.Val159Met Single submitter ASTN2-related disorder ⚠
- p.Val175Ile Single submitter ⚠
- p.Val279Phe Single submitter ⚠
- p.Val510Leu Single submitter ⚠
- p.Val622Ile Single submitter ⚠
- p.Val674Met Single submitter ⚠
- p.Cys1036Arg No assertion criteria ASTN2-related disorder ⚠
- p.Leu894Arg No assertion criteria ASTN2-related disorder ⚠
- p.Lys1027Arg No assertion criteria ASTN2-related disorder ⚠
- p.Pro560Leu No assertion criteria ASTN2-related disorder ⚠