ATRN — 470 ClinVar variants
All ClinVar germline ATRN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 274 flagged for review →
2 Conflicting · 33 Benign · 1 Benign/Likely benign · 148 Likely benign · 286 Uncertain significance
Full ATRN gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 274
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 167
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 167
- ATRN p.Ala438Gly Uncertain significance Multiple submitters
- ATRN p.Arg173His Uncertain significance Multiple submitters
- ATRN p.Asn1035Ser Uncertain significance Multiple submitters
- ATRN p.Asp639Asn Uncertain significance Multiple submitters
-
ATRN p.Cys318Arg
Uncertain significance
Multiple submitters
ATRN-related disorder
-
ATRN p.Gly164Val
Uncertain significance
Multiple submitters
ATRN-related disorder
- ATRN p.His1059Gln Uncertain significance Multiple submitters
- ATRN p.His726Arg Uncertain significance Multiple submitters
- ATRN p.Ile1093Leu Uncertain significance Multiple submitters
- ATRN p.Ile194Val Uncertain significance Multiple submitters
- ATRN p.Ile451Val Uncertain significance Multiple submitters
- ATRN p.Leu397Ser Uncertain significance Multiple submitters
- ATRN p.Met360Thr Uncertain significance Multiple submitters
- ATRN p.Ser1029Leu Uncertain significance Multiple submitters
- ATRN p.Thr1208Ser Uncertain significance Multiple submitters
- ATRN p.Thr159Met Uncertain significance Multiple submitters
- ATRN p.Thr804Ala Uncertain significance Multiple submitters
- ATRN p.Val1132Ile Uncertain significance Multiple submitters
- ATRN p.Val1406Ala Uncertain significance Multiple submitters
- ATRN p.Ala1031Ser Uncertain significance Single submitter
- ATRN p.Ala1115Val Uncertain significance Single submitter
- ATRN p.Ala1367Thr Uncertain significance Single submitter
- ATRN p.Ala1395Thr Uncertain significance Single submitter
- ATRN p.Ala23Gly Uncertain significance Single submitter
- ATRN p.Ala342Val Uncertain significance Single submitter
- ATRN p.Ala38Ser Uncertain significance Single submitter
- ATRN p.Ala438Val Uncertain significance Single submitter
- ATRN p.Ala45Thr Uncertain significance Single submitter
- ATRN p.Ala495Val Uncertain significance Single submitter
- ATRN p.Ala650Glu Uncertain significance Single submitter
- ATRN p.Ala650Val Uncertain significance Single submitter
- ATRN p.Ala922Gly Uncertain significance Single submitter
- ATRN p.Ala938Thr Uncertain significance Single submitter
- ATRN p.Ala98Gly Uncertain significance Single submitter
- ATRN p.Ala98Val Uncertain significance Single submitter
- ATRN p.Arg1052Thr Uncertain significance Single submitter
- ATRN p.Arg1246His Uncertain significance Single submitter
- ATRN p.Arg1312His Uncertain significance Single submitter
- ATRN p.Arg1377Gln Uncertain significance Single submitter
- ATRN p.Arg257Gln Uncertain significance Single submitter
- ATRN p.Arg384Leu Uncertain significance Single submitter
- ATRN p.Arg48Leu Uncertain significance Single submitter
- ATRN p.Arg554Pro Uncertain significance Single submitter
- ATRN p.Arg605Ser Uncertain significance Single submitter
- ATRN p.Arg665Gln Uncertain significance Single submitter
- ATRN p.Arg860Trp Uncertain significance Single submitter
- ATRN p.Arg902Gln Uncertain significance Single submitter
- ATRN p.Arg902Trp Uncertain significance Single submitter
- ATRN p.Arg930Trp Uncertain significance Single submitter
- ATRN p.Asn112Ser Uncertain significance Single submitter
- ATRN p.Asn1247Ser Uncertain significance Single submitter
- ATRN p.Asn1332Ser Uncertain significance Single submitter
- ATRN p.Asn1364Asp Uncertain significance Single submitter
- ATRN p.Asn1364Ser Uncertain significance Single submitter
- ATRN p.Asn300Ser Uncertain significance Single submitter
- ATRN p.Asn351Ser Uncertain significance Single submitter
- ATRN p.Asn456Ser Uncertain significance Single submitter
- ATRN p.Asn718His Uncertain significance Single submitter
- ATRN p.Asn718Ser Uncertain significance Single submitter
- ATRN p.Asn820Ser Uncertain significance Single submitter
- ATRN p.Asn914Ser Uncertain significance Single submitter
- ATRN p.Asn962Ser Uncertain significance Single submitter
- ATRN p.Asn986Thr Uncertain significance Single submitter
- ATRN p.Asp1398His Uncertain significance Single submitter
- ATRN p.Asp190Asn Uncertain significance Single submitter
- ATRN p.Asp190Glu Uncertain significance Single submitter
- ATRN p.Asp190Gly Uncertain significance Single submitter
- ATRN p.Asp700Gly Uncertain significance Single submitter
- ATRN p.Cys1002Ser Uncertain significance Single submitter
- ATRN p.Cys129Tyr Uncertain significance Single submitter
-
ATRN p.Cys132Trp
Uncertain significance
Single submitter
autism
- ATRN p.Cys723Tyr Uncertain significance Single submitter
- ATRN p.Cys734Phe Uncertain significance Single submitter
- ATRN p.Gln542Arg Uncertain significance Single submitter
- ATRN p.Gln542Glu Uncertain significance Single submitter
- ATRN p.Gln972Arg Uncertain significance Single submitter
- ATRN p.Glu1090Lys Uncertain significance Single submitter
- ATRN p.Glu1339Gly Uncertain significance Single submitter
- ATRN p.Glu214Gly Uncertain significance Single submitter
- ATRN p.Glu272Lys Uncertain significance Single submitter
- ATRN p.Glu692Asp Uncertain significance Single submitter
- ATRN p.Glu998Asp Uncertain significance Single submitter
- ATRN p.Glu9Gly Uncertain significance Single submitter
- ATRN p.Gly1123Asp Uncertain significance Single submitter
- ATRN p.Gly123Asp Uncertain significance Single submitter
- ATRN p.Gly1346Ala Uncertain significance Single submitter
- ATRN p.Gly143Arg Uncertain significance Single submitter
- ATRN p.Gly150Glu Uncertain significance Single submitter
- ATRN p.Gly415Trp Uncertain significance Single submitter
- ATRN p.Gly500Ser Uncertain significance Single submitter
- ATRN p.Gly631Arg Uncertain significance Single submitter
- ATRN p.Gly940Glu Uncertain significance Single submitter
- ATRN p.His295Leu Uncertain significance Single submitter
- ATRN p.His467Asn Uncertain significance Single submitter
- ATRN p.His701Arg Uncertain significance Single submitter
- ATRN p.Ile1017Val Uncertain significance Single submitter
- ATRN p.Ile1161Asn Uncertain significance Single submitter
- ATRN p.Ile1345Thr Uncertain significance Single submitter
- ATRN p.Ile1405Met Uncertain significance Single submitter
- ATRN p.Ile298Val Uncertain significance Single submitter
- ATRN p.Ile640Val Uncertain significance Single submitter
- ATRN p.Ile676Leu Uncertain significance Single submitter
- ATRN p.Ile781Asn Uncertain significance Single submitter
- ATRN p.Ile910Val Uncertain significance Single submitter
- ATRN p.Leu1358Arg Uncertain significance Single submitter
- ATRN p.Leu1369His Uncertain significance Single submitter
- ATRN p.Leu454Val Uncertain significance Single submitter
- ATRN p.Leu556Val Uncertain significance Single submitter
- ATRN p.Leu635Phe Uncertain significance Single submitter
- ATRN p.Lys1022Asn Uncertain significance Single submitter
- ATRN p.Lys1124Arg Uncertain significance Single submitter
- ATRN p.Lys401Glu Uncertain significance Single submitter
- ATRN p.Lys410Arg Uncertain significance Single submitter
- ATRN p.Lys801Gln Uncertain significance Single submitter
- ATRN p.Lys850Arg Uncertain significance Single submitter
- ATRN p.Met1027Val Uncertain significance Single submitter
- ATRN p.Met1046Val Uncertain significance Single submitter
- ATRN p.Met1223Ile Uncertain significance Single submitter
- ATRN p.Met543Val Uncertain significance Single submitter
- ATRN p.Met626Ile Uncertain significance Single submitter
- ATRN p.Met626Thr Uncertain significance Single submitter
- ATRN p.Met753Ile Uncertain significance Single submitter
- ATRN p.Met974Val Uncertain significance Single submitter
- ATRN p.Phe1260Ser Uncertain significance Single submitter
- ATRN p.Phe553Ser Uncertain significance Single submitter
- ATRN p.Phe742Leu Uncertain significance Single submitter
- ATRN p.Pro1028Leu Uncertain significance Single submitter
- ATRN p.Pro1404Ser Uncertain significance Single submitter
- ATRN p.Pro340Ala Uncertain significance Single submitter
- ATRN p.Pro340Arg Uncertain significance Single submitter
- ATRN p.Pro55Leu Uncertain significance Single submitter
- ATRN p.Pro606Thr Uncertain significance Single submitter
- ATRN p.Pro662Ser Uncertain significance Single submitter
- ATRN p.Pro984Ser Uncertain significance Single submitter
- ATRN p.Ser1056Thr Uncertain significance Single submitter
- ATRN p.Ser1370Cys Uncertain significance Single submitter
- ATRN p.Ser263Arg Uncertain significance Single submitter
- ATRN p.Ser301Leu Uncertain significance Single submitter
- ATRN p.Ser413Thr Uncertain significance Single submitter
- ATRN p.Ser653Asn Uncertain significance Single submitter
- ATRN p.Ser672Leu Uncertain significance Single submitter
- ATRN p.Ser900Asn Uncertain significance Single submitter
- ATRN p.Thr1101Ser Uncertain significance Single submitter
- ATRN p.Thr1158Asn Uncertain significance Single submitter
- ATRN p.Thr268Ala Uncertain significance Single submitter
- ATRN p.Thr288Ile Uncertain significance Single submitter
- ATRN p.Thr330Ile Uncertain significance Single submitter
- ATRN p.Thr670Ala Uncertain significance Single submitter
- ATRN p.Thr803Ala Uncertain significance Single submitter
- ATRN p.Trp31Cys Uncertain significance Single submitter
Predictors split 106
The independent predictors disagree with each other — read with care.
- ATRN p.Ala87Val Uncertain significance Multiple submitters
- ATRN p.Ala96Val Benign Multiple submitters
- ATRN p.Arg1417Gln Uncertain significance Multiple submitters
- ATRN p.Asn213Ser Uncertain significance Multiple submitters
- ATRN p.Asn300Thr Uncertain significance Multiple submitters
- ATRN p.Asp508Asn Uncertain significance Multiple submitters
- ATRN p.Asp750Ala Uncertain significance Multiple submitters
- ATRN p.Glu745Gly Benign Multiple submitters
- ATRN p.Gly46Glu Uncertain significance Multiple submitters
- ATRN p.Gly502Ser Uncertain significance Multiple submitters
- ATRN p.His651Arg Uncertain significance Multiple submitters
- ATRN p.Ile426Thr Benign Multiple submitters
- ATRN p.Leu641Val Uncertain significance Multiple submitters
- ATRN p.Met566Val Uncertain significance Multiple submitters
- ATRN p.Phe424Leu Uncertain significance Multiple submitters
- ATRN p.Pro1360Leu Uncertain significance Multiple submitters
- ATRN p.Ser916Gly Uncertain significance Multiple submitters
- ATRN p.Tyr535Phe Uncertain significance Multiple submitters
- ATRN p.Val1226Ile Benign Multiple submitters
- ATRN p.Val1414Met Uncertain significance Multiple submitters
- ATRN p.Ala1334Thr Uncertain significance Single submitter
- ATRN p.Ala1367Ser Uncertain significance Single submitter
- ATRN p.Ala18Val Uncertain significance Single submitter
- ATRN p.Ala23Val Uncertain significance Single submitter
- ATRN p.Ala281Thr Uncertain significance Single submitter
- ATRN p.Ala3Val Uncertain significance Single submitter
- ATRN p.Ala5Val Uncertain significance Single submitter
- ATRN p.Ala83Thr Uncertain significance Single submitter
- ATRN p.Ala907Thr Uncertain significance Single submitter
- ATRN p.Ala926Asp Uncertain significance Single submitter
- ATRN p.Arg1318Gln Uncertain significance Single submitter
- ATRN p.Arg1377Gly Uncertain significance Single submitter
- ATRN p.Arg137Ser Uncertain significance Single submitter
- ATRN p.Arg296Gln Uncertain significance Single submitter
- ATRN p.Arg384Cys Benign Single submitter
- ATRN p.Arg536Gln Uncertain significance Single submitter
- ATRN p.Arg652Trp Uncertain significance Single submitter
- ATRN p.Asn1112Ser Uncertain significance Single submitter
- ATRN p.Asn1119Ser Uncertain significance Single submitter
- ATRN p.Asn112Lys Uncertain significance Single submitter
- ATRN p.Asn252Ser Uncertain significance Single submitter
- ATRN p.Asn428Ser Uncertain significance Single submitter
- ATRN p.Asp481Tyr Uncertain significance Single submitter
- ATRN p.Asp533Glu Uncertain significance Single submitter
- ATRN p.Asp709Asn Uncertain significance Single submitter
- ATRN p.Cys1307Phe Uncertain significance Single submitter
- ATRN p.Cys1361Tyr Uncertain significance Single submitter
- ATRN p.Glu1136Lys Uncertain significance Single submitter
- ATRN p.Glu127Gln Uncertain significance Single submitter
- ATRN p.Glu420Asp Uncertain significance Single submitter
- ATRN p.Glu646Lys Uncertain significance Single submitter
- ATRN p.Glu948Gly Uncertain significance Single submitter
- ATRN p.Gly1346Arg Uncertain significance Single submitter
- ATRN p.Gly1412Glu Uncertain significance Single submitter
- ATRN p.Gly28Trp Uncertain significance Single submitter
- ATRN p.Ile426Val Uncertain significance Single submitter
- ATRN p.Ile451Met Likely benign Single submitter
- ATRN p.Leu1375Pro Uncertain significance Single submitter
- ATRN p.Leu370Ile Uncertain significance Single submitter
- ATRN p.Leu49Phe Uncertain significance Single submitter
- ATRN p.Leu680Pro Uncertain significance Single submitter
- ATRN p.Leu68Pro Uncertain significance Single submitter
- ATRN p.Leu72Pro Conflicting Single submitter
- ATRN p.Lys1110Arg Uncertain significance Single submitter
- ATRN p.Lys261Gln Uncertain significance Single submitter
- ATRN p.Lys688Glu Uncertain significance Single submitter
- ATRN p.Lys806Glu Uncertain significance Single submitter
- ATRN p.Met591Ile Uncertain significance Single submitter
- ATRN p.Phe136Leu Uncertain significance Single submitter
- ATRN p.Phe328Leu Uncertain significance Single submitter
- ATRN p.Pro1040Ser Uncertain significance Single submitter
- ATRN p.Pro166Arg Uncertain significance Single submitter
- ATRN p.Pro166Gln Uncertain significance Single submitter
- ATRN p.Pro285Ser Uncertain significance Single submitter
- ATRN p.Pro294Arg Uncertain significance Single submitter
- ATRN p.Pro323Ala Uncertain significance Single submitter
- ATRN p.Pro59Gln Uncertain significance Single submitter
- ATRN p.Pro884Leu Uncertain significance Single submitter
- ATRN p.Ser1212Arg Uncertain significance Single submitter
- ATRN p.Ser1310Thr Uncertain significance Single submitter
- ATRN p.Ser1325Arg Uncertain significance Single submitter
- ATRN p.Ser302Asn Uncertain significance Single submitter
- ATRN p.Ser385Cys Uncertain significance Single submitter
- ATRN p.Ser413Pro Uncertain significance Single submitter
- ATRN p.Ser638Arg Uncertain significance Single submitter
- ATRN p.Ser673Pro Uncertain significance Single submitter
- ATRN p.Ser677Leu Uncertain significance Single submitter
- ATRN p.Ser69Trp Uncertain significance Single submitter
- ATRN p.Ser849Phe Uncertain significance Single submitter
- ATRN p.Ser925Asn Uncertain significance Single submitter
- ATRN p.Thr1129Ser Uncertain significance Single submitter
- ATRN p.Thr215Ala Uncertain significance Single submitter
- ATRN p.Thr244Ile Uncertain significance Single submitter
- ATRN p.Thr876Ala Uncertain significance Single submitter
- ATRN p.Thr876Ile Uncertain significance Single submitter
- ATRN p.Tyr1037Cys Uncertain significance Single submitter
- ATRN p.Tyr1234Cys Uncertain significance Single submitter
- ATRN p.Tyr225Cys Uncertain significance Single submitter
- ATRN p.Tyr754Cys Uncertain significance Single submitter
- ATRN p.Val220Ala Uncertain significance Single submitter
- ATRN p.Val347Ala Uncertain significance Single submitter
- ATRN p.Val356Ile Uncertain significance Single submitter
- ATRN p.Val459Leu Uncertain significance Single submitter
- ATRN p.Val602Ala Uncertain significance Single submitter
-
ATRN p.Asn1206Ser
Uncertain significance
No assertion criteria
ATRN-related disorder
-
ATRN p.Asp412His
Uncertain significance
No assertion criteria
ATRN-related disorder
All ATRN variants
Conflicting classifications of pathogenicity 2
- p.Arg384His Single submitter ⚠
- p.Leu72Pro Single submitter ⚠
Benign 33
- c.2093-5T>G Multiple submitters
- c.2214+8G>A Multiple submitters
- c.3184+19C>G Multiple submitters
- p.Ala1366= Multiple submitters
- p.Ala96Val Multiple submitters ⚠
- p.Arg1152Lys Multiple submitters
- p.Asn877Asp Multiple submitters
- p.Asp303Ala Multiple submitters
- p.Glu745Gly Multiple submitters ⚠
- p.Ile426Thr Multiple submitters ⚠
- p.Leu52= Multiple submitters
- p.Pro1360= Multiple submitters
- p.Tyr154= Multiple submitters
- p.Tyr964= Multiple submitters
- p.Val1226Ile Multiple submitters ⚠
- p.Val145= Multiple submitters
- c.2092+14del Single submitter
- c.2092+14dup Single submitter
- c.2545-2A>C Single submitter
- c.3417-10del Single submitter
- c.3417-3del Single submitter
- c.3417-3dup Single submitter
- c.495-12dup Single submitter
- p.Ala20= Single submitter
- p.Ala656Thr Single submitter
- p.Arg384Cys Single submitter ⚠
- p.Asn1066= Single submitter
- p.Cys1127= Single submitter
- p.Ile1093Val Single submitter
- p.Leu66= Single submitter
- p.Thr1011= Single submitter
- p.Thr453Ser Single submitter
- p.Ala89del No assertion criteria ATRN-related disorder
Benign/Likely benign 1
- p.Asn242= Multiple submitters
Likely benign 148
- p.Ala21= Multiple submitters
- p.Asn911Ser Multiple submitters
- p.Asp1187= Multiple submitters
- p.Leu1379= Multiple submitters
- c.1112+8G>A Single submitter
- c.1631+16T>C Single submitter
- c.1631+17G>C Single submitter
- c.1631+8C>G Single submitter
- c.1787-8del Single submitter
- c.1871+10G>A Single submitter
- c.2354-7A>T Single submitter
- c.2951-6T>C Single submitter
- c.3185-15C>T Single submitter
- c.3322+17A>C Single submitter
- c.3323-12T>G Single submitter
- c.3417-10T>C Single submitter
- c.3417-8C>G Single submitter
- c.3565-10C>T Single submitter
- c.3565-9G>A Single submitter
- c.3643+13C>G Single submitter
- c.3643+7A>G Single submitter
- c.3801+12C>T Single submitter
- c.3863+16C>T Single submitter
- c.3863+17A>G Single submitter
- c.3863+18G>A Single submitter
- c.3863+20CT[3] Single submitter
- c.3942+14G>C Single submitter
- c.3942+20G>C Single submitter
- c.3943-18T>C Single submitter
- c.4050+15C>A Single submitter
- c.4051-10C>T Single submitter
- c.4051-15G>C Single submitter
- c.4051-4C>G Single submitter
- c.410+19C>T Single submitter
- c.4165+12C>T Single submitter
- c.4165+15T>G Single submitter
- c.4165+20C>T Single submitter
- c.4166-16C>A Single submitter
- c.4166-8C>A Single submitter
- c.4166-8C>T Single submitter
- c.495-19del Single submitter
- c.495-4T>C Single submitter
- c.495-8C>A Single submitter
- c.737+12_737+16del Single submitter
- c.738-11del Single submitter
- p.Ala1413= Single submitter
- p.Ala18= Single submitter
- p.Ala4= Single submitter
- p.Ala45= Single submitter
- p.Ala655= Single submitter
- p.Ala679= Single submitter
- p.Ala88= Single submitter
- p.Ala966= Single submitter
- p.Arg1311= Single submitter
- p.Arg15= Single submitter
- p.Arg458= Single submitter
- p.Asn1190= Single submitter
- p.Asn290= Single submitter
- p.Asn387Asp Single submitter
- p.Asn476= Single submitter
- p.Asn485= Single submitter
- p.Asp1135= Single submitter
- p.Asp1173= Single submitter
- p.Asp283= Single submitter
- p.Asp481= Single submitter
- p.Cys132= Single submitter
- p.Cys287= Single submitter
- p.Cys307= Single submitter
- p.Cys939= Single submitter
- p.Cys949= Single submitter
- p.Cys993= Single submitter
- p.Gln1064= Single submitter
- p.Gln128= Single submitter
- p.Gln165Leu Single submitter
- p.Gln493= Single submitter
- p.Glu1049= Single submitter
- p.Glu1141= Single submitter
- p.Glu1233= Single submitter
- p.Glu333= Single submitter
- p.Glu82= Single submitter
- p.Gly1012= Single submitter
- p.Gly1104= Single submitter
- p.Gly1131= Single submitter
- p.Gly126= Single submitter
- p.Gly133= Single submitter
- p.Gly1347= Single submitter
- p.Gly1381= Single submitter
- p.Gly27= Single submitter
- p.Gly358= Single submitter
- p.Gly502= Single submitter
- p.Gly582= Single submitter
- p.His1088= Single submitter
- p.His1114= Single submitter
- p.His131= Single submitter
- p.His425= Single submitter
- p.Ile1093= Single submitter
- p.Ile1197= Single submitter
- p.Ile1303= Single submitter
- p.Ile411= Single submitter
- p.Ile451Met Single submitter ⚠
- p.Leu1041= Single submitter
- p.Leu1048= Single submitter
- p.Leu1139= Single submitter
- p.Leu205= Single submitter
- p.Leu534= Single submitter
- p.Leu62= Single submitter
- p.Leu68= Single submitter
- p.Leu76= Single submitter
- p.Leu783= Single submitter
- p.Lys1242= Single submitter
- p.Lys1365Arg Single submitter
- p.Phe1283= Single submitter
- p.Pro1384= Single submitter
- p.Pro1404= Single submitter
- p.Ser1029= Single submitter
- p.Ser1394= Single submitter
- p.Ser580= Single submitter
- p.Ser624= Single submitter
- p.Ser645= Single submitter
- p.Ser677= Single submitter
- p.Ser712= Single submitter
- p.Ser93= Single submitter
- p.Ser944= Single submitter
- p.Thr1208= Single submitter
- p.Thr159= Single submitter
- p.Thr179= Single submitter
- p.Thr268Ser Single submitter
- p.Thr511= Single submitter
- p.Thr717= Single submitter
- p.Tyr507= Single submitter
- p.Tyr515= Single submitter
- p.Tyr711= Single submitter
- p.Val1397= Single submitter
- p.Val1406= Single submitter
- p.Val320= Single submitter
- p.Val348= Single submitter
- p.Val417= Single submitter
- p.Val460= Single submitter
- p.Val612= Single submitter
- p.Val864= Single submitter
- c.1203+8A>G No assertion criteria ATRN-related disorder
- c.-44T>G No assertion criteria ATRN-related disorder
- p.Gly134= No assertion criteria ATRN-related disorder
- p.Gly1426= No assertion criteria ATRN-related disorder
- p.Leu77del No assertion criteria ATRN-related disorder
- p.Pro59= No assertion criteria ATRN-related disorder
- p.Ser266= No assertion criteria ATRN-related disorder
- p.Thr156= No assertion criteria ATRN-related disorder
Uncertain significance 286
- p.Ala438Gly Multiple submitters ⚠
- p.Ala87Val Multiple submitters ⚠
- p.Arg1417Gln Multiple submitters ⚠
- p.Arg173His Multiple submitters ⚠
- p.Asn1035Ser Multiple submitters ⚠
- p.Asn213Ser Multiple submitters ⚠
- p.Asn300Thr Multiple submitters ⚠
- p.Asp508Asn Multiple submitters ⚠
- p.Asp639Asn Multiple submitters ⚠
- p.Asp750Ala Multiple submitters ⚠
- p.Cys318Arg Multiple submitters ATRN-related disorder ⚠
- p.Gly164Val Multiple submitters ATRN-related disorder ⚠
- p.Gly46Glu Multiple submitters ⚠
- p.Gly502Ser Multiple submitters ⚠
- p.His1059Gln Multiple submitters ⚠
- p.His651Arg Multiple submitters ⚠
- p.His726Arg Multiple submitters ⚠
- p.Ile1093Leu Multiple submitters ⚠
- p.Ile194Val Multiple submitters ⚠
- p.Ile451Val Multiple submitters ⚠
- p.Leu397Ser Multiple submitters ⚠
- p.Leu641Val Multiple submitters ⚠
- p.Met360Thr Multiple submitters ⚠
- p.Met566Val Multiple submitters ⚠
- p.Phe424Leu Multiple submitters ⚠
- p.Pro1360Leu Multiple submitters ⚠
- p.Ser1029Leu Multiple submitters ⚠
- p.Ser916Gly Multiple submitters ⚠
- p.Thr1208Ser Multiple submitters ⚠
- p.Thr159Met Multiple submitters ⚠
- p.Thr804Ala Multiple submitters ⚠
- p.Tyr535Phe Multiple submitters ⚠
- p.Val1132Ile Multiple submitters ⚠
- p.Val1406Ala Multiple submitters ⚠
- p.Val1414Met Multiple submitters ⚠
- c.1113-15_1113-14del Single submitter
- c.1631+3G>A Single submitter
- c.1786+2T>C Single submitter
- c.2950+3A>G Single submitter
- c.3417-3C>A Single submitter
- c.3417-3C>T Single submitter
- c.3564+6A>G Single submitter
- c.3565-3C>T Single submitter
- c.3942+4A>G Single submitter
- c.737+3A>G Single submitter
- c.737+5G>C Single submitter
- c.943+2_943+5dup Single submitter
- p.Ala1031Ser Single submitter ⚠
- p.Ala1115Val Single submitter ⚠
- p.Ala1334Thr Single submitter ⚠
- p.Ala1367Ser Single submitter ⚠
- p.Ala1367Thr Single submitter ⚠
- p.Ala1395Thr Single submitter ⚠
- p.Ala18Val Single submitter ⚠
- p.Ala23Gly Single submitter ⚠
- p.Ala23Val Single submitter ⚠
- p.Ala281Thr Single submitter ⚠
- p.Ala342Val Single submitter ⚠
- p.Ala38Ser Single submitter ⚠
- p.Ala3Val Single submitter ⚠
- p.Ala438Val Single submitter ⚠
- p.Ala45Thr Single submitter ⚠
- p.Ala495Val Single submitter ⚠
- p.Ala5Val Single submitter ⚠
- p.Ala650Glu Single submitter ⚠
- p.Ala650Val Single submitter ⚠
- p.Ala83Thr Single submitter ⚠
- p.Ala89_Val90insAla Single submitter
- p.Ala907Thr Single submitter ⚠
- p.Ala922Gly Single submitter ⚠
- p.Ala926Asp Single submitter ⚠
- p.Ala938Thr Single submitter ⚠
- p.Ala98Gly Single submitter ⚠
- p.Ala98Val Single submitter ⚠
- p.Arg1052Thr Single submitter ⚠
- p.Arg1246His Single submitter ⚠
- p.Arg1312His Single submitter ⚠
- p.Arg1318Gln Single submitter ⚠
- p.Arg1377Gln Single submitter ⚠
- p.Arg1377Gly Single submitter ⚠
- p.Arg137Ser Single submitter ⚠
- p.Arg15del Single submitter
- p.Arg257Gln Single submitter ⚠
- p.Arg296Gln Single submitter ⚠
- p.Arg384Leu Single submitter ⚠
- p.Arg48Leu Single submitter ⚠
- p.Arg536Gln Single submitter ⚠
- p.Arg554Pro Single submitter ⚠
- p.Arg605Ser Single submitter ⚠
- p.Arg652Trp Single submitter ⚠
- p.Arg665Gln Single submitter ⚠
- p.Arg860Trp Single submitter ⚠
- p.Arg902Gln Single submitter ⚠
- p.Arg902Trp Single submitter ⚠
- p.Arg930Trp Single submitter ⚠
- p.Asn1112Ser Single submitter ⚠
- p.Asn1119Ser Single submitter ⚠
- p.Asn112Lys Single submitter ⚠
- p.Asn112Ser Single submitter ⚠
- p.Asn1247Ser Single submitter ⚠
- p.Asn1332Ser Single submitter ⚠
- p.Asn1364Asp Single submitter ⚠
- p.Asn1364Ser Single submitter ⚠
- p.Asn252Ser Single submitter ⚠
- p.Asn300Ser Single submitter ⚠
- p.Asn351Ser Single submitter ⚠
- p.Asn428Ser Single submitter ⚠
- p.Asn456Ser Single submitter ⚠
- p.Asn718His Single submitter ⚠
- p.Asn718Ser Single submitter ⚠
- p.Asn820Ser Single submitter ⚠
- p.Asn914Ser Single submitter ⚠
- p.Asn962Ser Single submitter ⚠
- p.Asn986Thr Single submitter ⚠
- p.Asp1398His Single submitter ⚠
- p.Asp190Asn Single submitter ⚠
- p.Asp190Glu Single submitter ⚠
- p.Asp190Gly Single submitter ⚠
- p.Asp481Tyr Single submitter ⚠
- p.Asp533Glu Single submitter ⚠
- p.Asp700Gly Single submitter ⚠
- p.Asp709Asn Single submitter ⚠
- p.Cys1002Ser Single submitter ⚠
- p.Cys129Tyr Single submitter ⚠
- p.Cys1307Phe Single submitter ⚠
- p.Cys132Trp Single submitter autism ⚠
- p.Cys1361Tyr Single submitter ⚠
- p.Cys723Tyr Single submitter ⚠
- p.Cys734Phe Single submitter ⚠
- p.Gln314= Single submitter
- p.Gln542Arg Single submitter ⚠
- p.Gln542Glu Single submitter ⚠
- p.Gln972Arg Single submitter ⚠
- p.Glu1090Lys Single submitter ⚠
- p.Glu1136Lys Single submitter ⚠
- p.Glu127Gln Single submitter ⚠
- p.Glu127Ter Single submitter ATRN-related disorder
- p.Glu1339Gly Single submitter ⚠
- p.Glu1340del Single submitter
- p.Glu214Gly Single submitter ⚠
- p.Glu272Lys Single submitter ⚠
- p.Glu420Asp Single submitter ⚠
- p.Glu646Lys Single submitter ⚠
- p.Glu692Asp Single submitter ⚠
- p.Glu948Gly Single submitter ⚠
- p.Glu998Asp Single submitter ⚠
- p.Glu9Gly Single submitter ⚠
- p.Gly1123Asp Single submitter ⚠
- p.Gly116= Single submitter
- p.Gly123Asp Single submitter ⚠
- p.Gly1346Ala Single submitter ⚠
- p.Gly1346Arg Single submitter ⚠
- p.Gly1412Glu Single submitter ⚠
- p.Gly143Arg Single submitter ⚠
- p.Gly150Glu Single submitter ⚠
- p.Gly28Trp Single submitter ⚠
- p.Gly415Trp Single submitter ⚠
- p.Gly500Ser Single submitter ⚠
- p.Gly631Arg Single submitter ⚠
- p.Gly940Glu Single submitter ⚠
- p.His295Leu Single submitter ⚠
- p.His467Asn Single submitter ⚠
- p.His701Arg Single submitter ⚠
- p.Ile1017Val Single submitter ⚠
- p.Ile1161Asn Single submitter ⚠
- p.Ile1345Thr Single submitter ⚠
- p.Ile1405Met Single submitter ⚠
- p.Ile298Val Single submitter ⚠
- p.Ile426Val Single submitter ⚠
- p.Ile640Val Single submitter ⚠
- p.Ile676Leu Single submitter ⚠
- p.Ile781Asn Single submitter ⚠
- p.Ile910Val Single submitter ⚠
- p.Leu1358Arg Single submitter ⚠
- p.Leu1369His Single submitter ⚠
- p.Leu1375Pro Single submitter ⚠
- p.Leu370Ile Single submitter ⚠
- p.Leu454Val Single submitter ⚠
- p.Leu49Phe Single submitter ⚠
- p.Leu556Val Single submitter ⚠
- p.Leu635Phe Single submitter ⚠
- p.Leu680Pro Single submitter ⚠
- p.Leu68Pro Single submitter ⚠
- p.Leu77_Pro78insLeu Single submitter
- p.Leu77_Pro78insLeuLeu Single submitter
- p.Lys1022Asn Single submitter ⚠
- p.Lys1110Arg Single submitter ⚠
- p.Lys1124Arg Single submitter ⚠
- p.Lys261Gln Single submitter ⚠
- p.Lys401Glu Single submitter ⚠
- p.Lys410Arg Single submitter ⚠
- p.Lys688Glu Single submitter ⚠
- p.Lys801Gln Single submitter ⚠
- p.Lys806Glu Single submitter ⚠
- p.Lys850Arg Single submitter ⚠
- p.Met1027Val Single submitter ⚠
- p.Met1046Val Single submitter ⚠
- p.Met1223Ile Single submitter ⚠
- p.Met543Val Single submitter ⚠
- p.Met591Ile Single submitter ⚠
- p.Met626Ile Single submitter ⚠
- p.Met626Thr Single submitter ⚠
- p.Met753Ile Single submitter ⚠
- p.Met974Val Single submitter ⚠
- p.Phe1260Ser Single submitter ⚠
- p.Phe136Leu Single submitter ⚠
- p.Phe328Leu Single submitter ⚠
- p.Phe553Ser Single submitter ⚠
- p.Phe742Leu Single submitter ⚠
- p.Pro1028Leu Single submitter ⚠
- p.Pro1040Ser Single submitter ⚠
- p.Pro1404Ser Single submitter ⚠
- p.Pro166Arg Single submitter ⚠
- p.Pro166Gln Single submitter ⚠
- p.Pro285Ser Single submitter ⚠
- p.Pro294Arg Single submitter ⚠
- p.Pro323Ala Single submitter ⚠
- p.Pro340Ala Single submitter ⚠
- p.Pro340Arg Single submitter ⚠
- p.Pro55Leu Single submitter ⚠
- p.Pro59Gln Single submitter ⚠
- p.Pro606Thr Single submitter ⚠
- p.Pro662Ser Single submitter ⚠
- p.Pro884Leu Single submitter ⚠
- p.Pro984Ser Single submitter ⚠
- p.Ser1056Thr Single submitter ⚠
- p.Ser1212Arg Single submitter ⚠
- p.Ser1310Thr Single submitter ⚠
- p.Ser1325Arg Single submitter ⚠
- p.Ser1370Cys Single submitter ⚠
- p.Ser263Arg Single submitter ⚠
- p.Ser301Leu Single submitter ⚠
- p.Ser302Asn Single submitter ⚠
- p.Ser385Cys Single submitter ⚠
- p.Ser413Pro Single submitter ⚠
- p.Ser413Thr Single submitter ⚠
- p.Ser638Arg Single submitter ⚠
- p.Ser653Asn Single submitter ⚠
- p.Ser672Leu Single submitter ⚠
- p.Ser673Pro Single submitter ⚠
- p.Ser677Leu Single submitter ⚠
- p.Ser69Trp Single submitter ⚠
- p.Ser849Phe Single submitter ⚠
- p.Ser900Asn Single submitter ⚠
- p.Ser925Asn Single submitter ⚠
- p.Thr1101Ser Single submitter ⚠
- p.Thr1129Ser Single submitter ⚠
- p.Thr1158Asn Single submitter ⚠
- p.Thr215Ala Single submitter ⚠
- p.Thr244Ile Single submitter ⚠
- p.Thr268Ala Single submitter ⚠
- p.Thr288Ile Single submitter ⚠
- p.Thr330Ile Single submitter ⚠
- p.Thr670Ala Single submitter ⚠
- p.Thr803Ala Single submitter ⚠
- p.Thr876Ala Single submitter ⚠
- p.Thr876Ile Single submitter ⚠
- p.Trp31Cys Single submitter ⚠
- p.Trp33Arg Single submitter ⚠
- p.Tyr1037Cys Single submitter ⚠
- p.Tyr1234Cys Single submitter ⚠
- p.Tyr225Cys Single submitter ⚠
- p.Tyr393His Single submitter ⚠
- p.Tyr442Cys Single submitter ⚠
- p.Tyr471Cys Single submitter ⚠
- p.Tyr473Cys Single submitter ⚠
- p.Tyr627Cys Single submitter ⚠
- p.Tyr744Cys Single submitter ⚠
- p.Tyr754Cys Single submitter ⚠
- p.Val1352Ile Single submitter ⚠
- p.Val1414Ala Single submitter ⚠
- p.Val1414Leu Single submitter ⚠
- p.Val220Ala Single submitter ⚠
- p.Val269Ile Single submitter ⚠
- p.Val304Ile Single submitter ⚠
- p.Val347Ala Single submitter ⚠
- p.Val355Ile Single submitter ⚠
- p.Val356Ile Single submitter ⚠
- p.Val417Met Single submitter ⚠
- p.Val459Leu Single submitter ⚠
- p.Val477Met Single submitter ⚠
- p.Val602Ala Single submitter ⚠
- p.Val667Leu Single submitter ⚠
- p.Asn1206Ser No assertion criteria ATRN-related disorder ⚠
- p.Asp412His No assertion criteria ATRN-related disorder ⚠
- p.Leu454Arg No assertion criteria ATRN-related disorder ⚠