MAST1 — 617 ClinVar variants
All ClinVar germline MAST1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 301 flagged for review →
4 Pathogenic · 1 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 12 Conflicting · 31 Benign · 17 Benign/Likely benign · 206 Likely benign · 336 Uncertain significance
Full MAST1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 301
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 11
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
MAST1 p.Ala1082Thr
Conflicting
Single submitter
Inborn genetic diseases
-
MAST1 p.Arg496Cys
Conflicting
Single submitter
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
-
MAST1 p.Arg858Cys
Conflicting
Single submitter
Inborn genetic diseases
-
MAST1 p.Arg955Gln
Conflicting
Single submitter
Inborn genetic diseases
-
MAST1 p.Glu1506Ala
Conflicting
Single submitter
Inborn genetic diseases
- MAST1 p.Gly522Glu Conflicting Single submitter
-
MAST1 p.Lys1046Met
Conflicting
Single submitter
Inborn genetic diseases
-
MAST1 p.Pro1494Ala
Conflicting
Single submitter
Inborn genetic diseases
-
MAST1 p.Ser93Leu
Conflicting
Single submitter
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
-
MAST1 p.Thr847Asn
Conflicting
Single submitter
Inborn genetic diseases
- MAST1 p.Val1246Leu Conflicting Single submitter
Predictors lean, ClinVar uncertain 217
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 217
- MAST1 p.Ala1410Thr Uncertain significance Multiple submitters
-
MAST1 p.Ala1455Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAST1 p.Ala887Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAST1 p.Arg1422Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAST1 p.Arg1495Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAST1 p.Arg858His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAST1 p.Asp852Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAST1 p.Asp863Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAST1 p.Gln1010His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAST1 p.Gln1392His
Uncertain significance
Multiple submitters
MAST1-related disorder
-
MAST1 p.Glu1318Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAST1 p.Gly1312Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAST1 p.Gly565Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAST1 p.Ile1436Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MAST1 p.Leu1532Phe Uncertain significance Multiple submitters
-
MAST1 p.Lys1502Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAST1 p.Pro1510Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAST1 p.Pro698Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAST1 p.Ser1081Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAST1 p.Ser1169Leu
Uncertain significance
Multiple submitters
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
-
MAST1 p.Ser1424Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAST1 p.Ser59Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MAST1 p.Thr1370Ile Uncertain significance Multiple submitters
-
MAST1 p.Val1448Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAST1 p.Val631Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MAST1 p.Ala1148Thr Uncertain significance Single submitter
- MAST1 p.Ala1322Val Uncertain significance Single submitter
-
MAST1 p.Ala1342Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- MAST1 p.Ala1366Val Uncertain significance Single submitter
-
MAST1 p.Ala1441Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAST1 p.Ala1464Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- MAST1 p.Ala1473Asp Uncertain significance Single submitter
-
MAST1 p.Ala1513Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- MAST1 p.Ala1530Pro Uncertain significance Single submitter
- MAST1 p.Ala1530Thr Uncertain significance Single submitter
- MAST1 p.Ala365Gly Uncertain significance Single submitter
- MAST1 p.Ala387Thr Uncertain significance Single submitter
- MAST1 p.Ala850Pro Uncertain significance Single submitter
-
MAST1 p.Ala897Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAST1 p.Ala915Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAST1 p.Ala924Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAST1 p.Ala934Val
Uncertain significance
Single submitter
Inborn genetic diseases
- MAST1 p.Arg1324Trp Uncertain significance Single submitter
- MAST1 p.Arg1384Trp Uncertain significance Single submitter
-
MAST1 p.Arg1475Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAST1 p.Arg1495His
Uncertain significance
Single submitter
Inborn genetic diseases
- MAST1 p.Arg151His Uncertain significance Single submitter
- MAST1 p.Arg151Leu Uncertain significance Single submitter
-
MAST1 p.Arg1546Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- MAST1 p.Arg160Trp Uncertain significance Single submitter
- MAST1 p.Arg322His Uncertain significance Single submitter
- MAST1 p.Arg326Cys Uncertain significance Single submitter
- MAST1 p.Arg326His Uncertain significance Single submitter
- MAST1 p.Arg361His Uncertain significance Single submitter
- MAST1 p.Arg413His Uncertain significance Single submitter
- MAST1 p.Arg496Gly Uncertain significance Single submitter
- MAST1 p.Arg540Leu Uncertain significance Single submitter
-
MAST1 p.Arg561His
Uncertain significance
Single submitter
Inborn genetic diseases
- MAST1 p.Arg702His Uncertain significance Single submitter
- MAST1 p.Arg886Gln Uncertain significance Single submitter
-
MAST1 p.Arg888Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- MAST1 p.Arg904Gln Uncertain significance Single submitter
- MAST1 p.Arg955Trp Uncertain significance Single submitter
- MAST1 p.Arg982Gly Uncertain significance Single submitter
- MAST1 p.Arg982Leu Uncertain significance Single submitter
- MAST1 p.Asn1115Thr Uncertain significance Single submitter
-
MAST1 p.Asn1201Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- MAST1 p.Asn880Ser Uncertain significance Single submitter
- MAST1 p.Asp355Glu Uncertain significance Single submitter
-
MAST1 p.Asp373Val
Uncertain significance
Single submitter
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
-
MAST1 p.Asp395Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- MAST1 p.Asp424Tyr Uncertain significance Single submitter
- MAST1 p.Asp649Glu Uncertain significance Single submitter
- MAST1 p.Asp692Ala Uncertain significance Single submitter
- MAST1 p.Asp872His Uncertain significance Single submitter
- MAST1 p.Asp881Asn Uncertain significance Single submitter
-
MAST1 p.Asp956Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- MAST1 p.Cys231Phe Uncertain significance Single submitter
-
MAST1 p.Gln1010Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAST1 p.Gln1215Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAST1 p.Gln843Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- MAST1 p.Glu1026Lys Uncertain significance Single submitter
-
MAST1 p.Glu1348Asp
Uncertain significance
Single submitter
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
-
MAST1 p.Glu1367Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- MAST1 p.Glu1419Gln Uncertain significance Single submitter
- MAST1 p.Glu1483Gln Uncertain significance Single submitter
-
MAST1 p.Glu297Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAST1 p.Glu841Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- MAST1 p.Glu845Lys Uncertain significance Single submitter
-
MAST1 p.Glu854Gln
Uncertain significance
Single submitter
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
- MAST1 p.Gly1013Glu Uncertain significance Single submitter
- MAST1 p.Gly1030Ser Uncertain significance Single submitter
- MAST1 p.Gly1085Ser Uncertain significance Single submitter
-
MAST1 p.Gly1126Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAST1 p.Gly1151Ser
Uncertain significance
Single submitter
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
- MAST1 p.Gly1349Val Uncertain significance Single submitter
-
MAST1 p.Gly1365Ser
Uncertain significance
Single submitter
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
-
MAST1 p.Gly1444Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- MAST1 p.Gly1476Val Uncertain significance Single submitter
-
MAST1 p.Gly148Ala
Uncertain significance
Single submitter
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
- MAST1 p.Gly148Val Uncertain significance Single submitter
- MAST1 p.Gly1569Val Uncertain significance Single submitter
- MAST1 p.Gly347Asp Uncertain significance Single submitter
-
MAST1 p.Gly347Ser
Uncertain significance
Single submitter
MAST1-related disorder
-
MAST1 p.Gly348Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- MAST1 p.Gly634Glu Uncertain significance Single submitter
-
MAST1 p.Gly86Arg
Uncertain significance
Single submitter
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
- MAST1 p.Gly875Val Uncertain significance Single submitter
- MAST1 p.Gly894Arg Uncertain significance Single submitter
- MAST1 p.Gly907Ser Uncertain significance Single submitter
-
MAST1 p.Gly974Asp
Uncertain significance
Single submitter
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
- MAST1 p.His1130Tyr Uncertain significance Single submitter
-
MAST1 p.His314Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- MAST1 p.His393Gln Uncertain significance Single submitter
-
MAST1 p.His393Tyr
Uncertain significance
Single submitter
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
- MAST1 p.Ile1436Val Uncertain significance Single submitter
- MAST1 p.Ile377Val Uncertain significance Single submitter
- MAST1 p.Ile425Ser Uncertain significance Single submitter
- MAST1 p.Ile559Thr Uncertain significance Single submitter
-
MAST1 p.Leu1340Val
Uncertain significance
Single submitter
Inborn genetic diseases
- MAST1 p.Leu1433Arg Uncertain significance Single submitter
-
MAST1 p.Leu1533Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAST1 p.Leu289Val
Uncertain significance
Single submitter
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
-
MAST1 p.Leu292Gln
Uncertain significance
Single submitter
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
- MAST1 p.Leu303Pro Uncertain significance Single submitter
-
MAST1 p.Leu526Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- MAST1 p.Leu882Phe Uncertain significance Single submitter
- MAST1 p.Lys1251Arg Uncertain significance Single submitter
-
MAST1 p.Lys1278Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- MAST1 p.Lys1358Arg Uncertain significance Single submitter
- MAST1 p.Lys1502Asn Uncertain significance Single submitter
-
MAST1 p.Lys1559Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- MAST1 p.Lys1560Ile Uncertain significance Single submitter
- MAST1 p.Lys512Arg Uncertain significance Single submitter
- MAST1 p.Lys713Arg Uncertain significance Single submitter
- MAST1 p.Met451Ile Uncertain significance Single submitter
-
MAST1 p.Met476Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- MAST1 p.Met521Val Uncertain significance Single submitter
- MAST1 p.Phe639Leu Uncertain significance Single submitter
-
MAST1 p.Phe704Leu
Uncertain significance
Single submitter
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
-
MAST1 p.Pro1053Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- MAST1 p.Pro1080Arg Uncertain significance Single submitter
- MAST1 p.Pro1133Arg Uncertain significance Single submitter
- MAST1 p.Pro1236Leu Uncertain significance Single submitter
- MAST1 p.Pro1292Leu Uncertain significance Single submitter
-
MAST1 p.Pro1315Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- MAST1 p.Pro1316Gln Uncertain significance Single submitter
- MAST1 p.Pro1323Ser Uncertain significance Single submitter
- MAST1 p.Pro1371Arg Uncertain significance Single submitter
- MAST1 p.Pro1432His Uncertain significance Single submitter
Predictors split 73
The independent predictors disagree with each other — read with care.
-
MAST1 p.Arg88Trp
Uncertain significance
Multiple submitters
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
-
MAST1 p.Arg965His
Likely benign
Multiple submitters
Inborn genetic diseases
-
MAST1 p.Glu1288Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MAST1 p.Glu608Gln Uncertain significance Multiple submitters
-
MAST1 p.Ile38Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAST1 p.Phe335Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MAST1 p.Pro1177Leu Likely pathogenic Multiple submitters
-
MAST1 p.Ser962Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAST1 p.Tyr389His
Uncertain significance
Multiple submitters
intellectual disability
-
MAST1 p.Ala1064Val
Likely pathogenic
Single submitter
MAST1-related disorder
-
MAST1 p.Ala474Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAST1 p.Ala612Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAST1 p.Ala638Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- MAST1 p.Ala983Thr Uncertain significance Single submitter
-
MAST1 p.Arg1075Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAST1 p.Arg1096Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- MAST1 p.Arg1109Leu Uncertain significance Single submitter
- MAST1 p.Arg1142Ser Uncertain significance Single submitter
- MAST1 p.Arg117Cys Uncertain significance Single submitter
- MAST1 p.Arg1195Leu Uncertain significance Single submitter
- MAST1 p.Arg284His Uncertain significance Single submitter
- MAST1 p.Arg34Pro Uncertain significance Single submitter
-
MAST1 p.Arg397Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAST1 p.Arg445Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- MAST1 p.Arg824Trp Likely benign Single submitter
-
MAST1 p.Arg965Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- MAST1 p.Asn1077Lys Uncertain significance Single submitter
- MAST1 p.Asn1103Lys Uncertain significance Single submitter
- MAST1 p.Asn33His Likely benign Single submitter
- MAST1 p.Asn382Lys Uncertain significance Single submitter
- MAST1 p.Asp538Glu Uncertain significance Single submitter
- MAST1 p.Gln1155Arg Uncertain significance Single submitter
- MAST1 p.Gln643Lys Likely benign Single submitter
- MAST1 p.Glu1026Gln Uncertain significance Single submitter
- MAST1 p.Glu141Lys Uncertain significance Single submitter
- MAST1 p.Glu146Lys Uncertain significance Single submitter
-
MAST1 p.Glu1486Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- MAST1 p.Glu608Lys Uncertain significance Single submitter
-
MAST1 p.Glu785Val
Uncertain significance
Single submitter
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
- MAST1 p.Gly436Val Uncertain significance Single submitter
- MAST1 p.His1022Gln Uncertain significance Single submitter
- MAST1 p.His1188Arg Uncertain significance Single submitter
- MAST1 p.Ile1202Met Uncertain significance Single submitter
- MAST1 p.Ile143Thr Uncertain significance Single submitter
-
MAST1 p.Ile282Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAST1 p.Leu1180Arg
Likely pathogenic
Single submitter
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
- MAST1 p.Leu1204Pro Uncertain significance Single submitter
- MAST1 p.Lys1042Asn Uncertain significance Single submitter
-
MAST1 p.Lys1070Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAST1 p.Lys1197Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- MAST1 p.Lys311Gln Uncertain significance Single submitter
- MAST1 p.Met402Val Uncertain significance Single submitter
- MAST1 p.Met921Thr Uncertain significance Single submitter
- MAST1 p.Phe1054Leu Uncertain significance Single submitter
- MAST1 p.Pro1164Arg Uncertain significance Single submitter
- MAST1 p.Pro1177Thr Uncertain significance Single submitter
- MAST1 p.Pro1236Arg Uncertain significance Single submitter
- MAST1 p.Pro1250Ala Uncertain significance Single submitter
-
MAST1 p.Pro1256Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- MAST1 p.Pro709Ala Uncertain significance Single submitter
- MAST1 p.Pro709Leu Uncertain significance Single submitter
- MAST1 p.Ser1117Leu Uncertain significance Single submitter
- MAST1 p.Ser1143Phe Uncertain significance Single submitter
- MAST1 p.Ser1156Asn Likely benign Single submitter
- MAST1 p.Ser1162Ile Uncertain significance Single submitter
- MAST1 p.Ser36Gly Uncertain significance Single submitter
- MAST1 p.Ser668Leu Uncertain significance Single submitter
- MAST1 p.Ser705Ala Likely benign Single submitter
- MAST1 p.Thr396Met Uncertain significance Single submitter
-
MAST1 p.Thr991Met
Uncertain significance
Single submitter
MAST1-related disorder
- MAST1 p.Val268Ala Uncertain significance Single submitter
-
MAST1 p.Met402Ile
Uncertain significance
No assertion criteria
MAST1-related disorder
-
MAST1 p.Pro369Leu
Uncertain significance
No assertion criteria
MAST1-related disorder
All MAST1 variants
Pathogenic 4
- p.Gly517Ser Multiple submitters mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
- p.Cys291Ter Single submitter
- p.Leu523Pro Single submitter mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
- p.Leu279del No assertion criteria mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
Pathogenic/Likely pathogenic 1
- p.Ile282del Multiple submitters mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
Likely pathogenic 10
- p.Pro1177Leu Multiple submitters ⚠
- p.Ala1064Val Single submitter MAST1-related disorder ⚠
- p.Glu532Gln Single submitter mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
- p.Leu1180Arg Single submitter mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations ⚠
- p.Lys277del Single submitter mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
- p.Phe433Ser Single submitter mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
- p.Pro1177_Thr1179del Single submitter mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
- p.Thr126Lys Single submitter mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
- p.Thr527Asn Single submitter mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
- p.Phe588Val No assertion criteria mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
Conflicting classifications of pathogenicity 12
- c.1077+6G>T Single submitter
- p.Ala1082Thr Single submitter Inborn genetic diseases ⚠
- p.Arg496Cys Single submitter mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations ⚠
- p.Arg858Cys Single submitter Inborn genetic diseases ⚠
- p.Arg955Gln Single submitter Inborn genetic diseases ⚠
- p.Glu1506Ala Single submitter Inborn genetic diseases ⚠
- p.Gly522Glu Single submitter ⚠
- p.Lys1046Met Single submitter Inborn genetic diseases ⚠
- p.Pro1494Ala Single submitter Inborn genetic diseases ⚠
- p.Ser93Leu Single submitter mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations ⚠
- p.Thr847Asn Single submitter Inborn genetic diseases ⚠
- p.Val1246Leu Single submitter ⚠
Benign 31
- c.1638+7G>A Multiple submitters intellectual disability
- p.Ala887= Multiple submitters
- c.1009+5C>T Single submitter
- c.1366+2874T>C Single submitter
- c.1367-15T>C Single submitter
- c.1638+10C>T Single submitter
- c.1638+21del Single submitter
- c.173-15del Single submitter
- c.2566+20G>A Single submitter
- c.3003+3G>A Single submitter
- c.3264-15del Single submitter
- c.488+18C>T Single submitter
- c.83+10dup Single submitter
- c.876+8G>A Single submitter
- p.Ala1342Gly Single submitter
- p.Ala259= Single submitter
- p.Ala850= Single submitter
- p.Ala924= Single submitter
- p.Arg1546Gln Single submitter
- p.Asp337= Single submitter
- p.Gly851Arg Single submitter
- p.His1181= Single submitter
- p.Ile425= Single submitter
- p.Leu523= Single submitter
- p.Lys1078= Single submitter
- p.Lys1516= Single submitter
- p.Pro1236Ser Single submitter
- p.Pro1471Ser Single submitter
- p.Pro927Ser Single submitter
- p.Ser1535= Single submitter
- p.Thr1163= Single submitter
Benign/Likely benign 17
- c.1078-19C>T Multiple submitters
- c.1906+8C>T Multiple submitters
- p.Ala1374= Multiple submitters
- p.Asp1122= Multiple submitters
- p.Gln408= Multiple submitters
- p.His510= Multiple submitters mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
- p.Lys1097= Multiple submitters
- p.Lys1100= Multiple submitters
- p.Phe516= Multiple submitters
- p.Pro1008= Multiple submitters
- p.Pro1344Gln Multiple submitters
- p.Pro1372His Multiple submitters Inborn genetic diseases
- p.Pro47= Multiple submitters
- p.Ser93= Multiple submitters
- p.Ser973= Multiple submitters
- p.Thr140= Multiple submitters
- p.Val986= Multiple submitters
Likely benign 206
- c.173-9C>G Multiple submitters
- c.3451+10C>G Multiple submitters
- c.877-7G>A Multiple submitters
- p.Ala1048Ser Multiple submitters Inborn genetic diseases
- p.Arg151= Multiple submitters
- p.Arg262= Multiple submitters
- p.Arg965His Multiple submitters Inborn genetic diseases ⚠
- p.Asp1385= Multiple submitters
- p.Asp145= Multiple submitters
- p.Glu695= Multiple submitters
- p.Gly871Val Multiple submitters Inborn genetic diseases
- p.Leu1345= Multiple submitters
- p.Pro1565= Multiple submitters
- p.Pro698= Multiple submitters
- p.Ser1158= Multiple submitters Inborn genetic diseases
- p.Ser1212= Multiple submitters
- p.Ser32= Multiple submitters
- p.Thr331= Multiple submitters
- p.Val108Ile Multiple submitters Inborn genetic diseases
- c.1009+11G>C Single submitter
- c.1009+20G>A Single submitter
- c.1009+7del Single submitter
- c.1010-10C>A Single submitter
- c.1010-17del Single submitter
- c.1010-8C>T Single submitter
- c.1077+16T>A Single submitter
- c.1078-13C>G Single submitter
- c.1078-13C>T Single submitter
- c.1157+9C>G Single submitter
- c.1158-14C>G Single submitter
- c.1158-17del Single submitter
- c.1367-17C>A Single submitter
- c.1367-18C>T Single submitter
- c.1367-20G>A Single submitter
- c.1506-14A>G Single submitter
- c.1506-17_1506-15dup Single submitter
- c.1506-17C>T Single submitter
- c.1506-8G>T Single submitter
- c.1639-5C>T Single submitter
- c.1639-6C>T Single submitter
- c.173-13C>G Single submitter
- c.1804+12G>A Single submitter
- c.1804+14C>G Single submitter
- c.1906+13T>A Single submitter
- c.1907-5C>T Single submitter
- c.2029+18G>A Single submitter
- c.2030-11C>A Single submitter
- c.2030-18C>T Single submitter
- c.2139+10G>A Single submitter
- c.2139+12C>T Single submitter
- c.249-17C>A Single submitter
- c.2566+14C>G Single submitter
- c.2567-15T>C Single submitter
- c.2773+18C>A Single submitter
- c.2773+7C>T Single submitter
- c.2774-12G>T Single submitter
- c.2774-17T>C Single submitter
- c.3003+12T>C Single submitter
- c.3127-15G>C Single submitter
- c.3127-16C>T Single submitter
- c.3127-16dup Single submitter
- c.3263+4G>C Single submitter
- c.3263+8C>T Single submitter
- c.3264-12C>T Single submitter
- c.3264-13C>T Single submitter
- c.328-5C>T Single submitter
- c.3452-14C>G Single submitter
- c.3452-17C>T Single submitter
- c.488+20C>T Single submitter
- c.83+10C>G Single submitter
- c.83+12A>T Single submitter
- c.84-19del Single submitter
- c.84-4G>A Single submitter
- c.84-5C>T Single submitter
- c.84-8C>T Single submitter
- c.876+7G>A Single submitter
- c.877-12G>A Single submitter
- c.877-13T>C Single submitter
- c.877-17C>G Single submitter
- c.877-9del Single submitter
- p.Ala1009= Single submitter
- p.Ala1134= Single submitter
- p.Ala1194= Single submitter
- p.Ala1194Thr Single submitter
- p.Ala1267= Single submitter
- p.Ala1276= Single submitter
- p.Ala1303Val Single submitter intellectual disability
- p.Ala1366fs Single submitter
- p.Ala1464Thr Single submitter Inborn genetic diseases
- p.Ala1499= Single submitter
- p.Ala1523= Single submitter
- p.Ala306= Single submitter
- p.Ala468= Single submitter
- p.Arg1075= Single submitter
- p.Arg1091Cys Single submitter
- p.Arg824Trp Single submitter ⚠
- p.Arg877= Single submitter
- p.Arg888Trp Single submitter Inborn genetic diseases
- p.Asn1165= Single submitter
- p.Asn33His Single submitter ⚠
- p.Asn67= Single submitter
- p.Asp355= Single submitter
- p.Asp458= Single submitter
- p.Asp85= Single submitter
- p.Asp872= Single submitter
- p.Asp992= Single submitter
- p.Cys865= Single submitter
- p.Gln1190= Single submitter
- p.Gln417= Single submitter
- p.Gln643= Single submitter
- p.Gln643Lys Single submitter ⚠
- p.Glu1084= Single submitter
- p.Glu1397= Single submitter
- p.Glu611= Single submitter
- p.Gly100= Single submitter
- p.Gly1300= Single submitter
- p.Gly1312Ser Single submitter
- p.Gly1319= Single submitter
- p.Gly138= Single submitter
- p.Gly383= Single submitter
- p.Gly456= Single submitter
- p.Gly457= Single submitter
- p.Gly549= Single submitter
- p.Gly636= Single submitter
- p.His1029Gln Single submitter
- p.His1305= Single submitter
- p.His495= Single submitter
- p.His665= Single submitter
- p.Ile320= Single submitter
- p.Ile535= Single submitter
- p.Ile910= Single submitter
- p.Leu1124= Single submitter
- p.Leu1239= Single submitter
- p.Leu1270= Single submitter
- p.Leu1274= Single submitter
- p.Leu1482Val Single submitter
- p.Leu1512= Single submitter
- p.Leu1532= Single submitter
- p.Leu462= Single submitter
- p.Leu483= Single submitter
- p.Leu485= Single submitter
- p.Lys499= Single submitter
- p.Phe1054= Single submitter
- p.Phe23= Single submitter
- p.Pro1125= Single submitter
- p.Pro1164= Single submitter
- p.Pro1213= Single submitter
- p.Pro1236= Single submitter
- p.Pro1244= Single submitter
- p.Pro1452= Single submitter
- p.Pro1471= Single submitter
- p.Pro1498= Single submitter
- p.Pro1505= Single submitter
- p.Pro1526Leu Single submitter
- p.Pro153= Single submitter
- p.Pro1568= Single submitter
- p.Pro296= Single submitter
- p.Pro432= Single submitter
- p.Pro470= Single submitter
- p.Pro861= Single submitter
- p.Ser1081= Single submitter
- p.Ser1102= Single submitter
- p.Ser1120= Single submitter
- p.Ser1156Asn Single submitter ⚠
- p.Ser1169= Single submitter
- p.Ser1178= Single submitter
- p.Ser1258= Single submitter
- p.Ser1357= Single submitter
- p.Ser1426Pro Single submitter
- p.Ser1492= Single submitter
- p.Ser1531= Single submitter
- p.Ser263= Single submitter
- p.Ser283= Single submitter
- p.Ser440= Single submitter
- p.Ser525Gly Single submitter
- p.Ser623= Single submitter
- p.Ser69= Single submitter
- p.Ser705Ala Single submitter ⚠
- p.Ser919= Single submitter
- p.Ser966= Single submitter
- p.Thr1052= Single submitter
- p.Thr107= Single submitter
- p.Thr318= Single submitter
- p.Thr481= Single submitter
- p.Thr527= Single submitter
- p.Thr905= Single submitter
- p.Tyr260= Single submitter
- p.Tyr323= Single submitter
- p.Tyr385= Single submitter
- p.Tyr531= Single submitter
- p.Tyr688His Single submitter
- p.Tyr994= Single submitter
- p.Val1289Met Single submitter
- p.Val1317= Single submitter
- p.Val1355= Single submitter
- p.Val1448= Single submitter
- p.Val1449= Single submitter
- p.Val1527= Single submitter
- p.Val547= Single submitter
- p.Val996= Single submitter
- p.Gln1392= No assertion criteria MAST1-related disorder
- p.Glu343Asp No assertion criteria intellectual disability
- p.Ile466= No assertion criteria MAST1-related disorder
- p.Leu328= No assertion criteria MAST1-related disorder
- p.Pro369= No assertion criteria MAST1-related disorder
- p.Ser848= No assertion criteria MAST1-related disorder
Uncertain significance 336
Showing the top 300 by review status; the full set is in the sitemap.
- c.3263+5G>A Multiple submitters
- p.Ala1410Thr Multiple submitters ⚠
- p.Ala1455Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala887Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg1422Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg1495Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg858His Multiple submitters Inborn genetic diseases ⚠
- p.Arg88Trp Multiple submitters mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations ⚠
- p.Asn71fs Multiple submitters mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
- p.Asp852Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Asp863Val Multiple submitters Inborn genetic diseases ⚠
- p.Gln1010His Multiple submitters Inborn genetic diseases ⚠
- p.Gln1392His Multiple submitters MAST1-related disorder ⚠
- p.Glu1288Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu1318Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu608Gln Multiple submitters ⚠
- p.Gly1312Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly313Asp Multiple submitters
- p.Gly565Ser Multiple submitters Inborn genetic diseases ⚠
- p.His644fs Multiple submitters
- p.Ile1436Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ile38Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu1532Phe Multiple submitters ⚠
- p.Leu379fs Multiple submitters
- p.Lys1502Glu Multiple submitters Inborn genetic diseases ⚠
- p.Phe335Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro1510Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro698Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ser1081Ala Multiple submitters Inborn genetic diseases ⚠
- p.Ser1169Leu Multiple submitters mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations ⚠
- p.Ser1424Gly Multiple submitters Inborn genetic diseases ⚠
- p.Ser59Gly Multiple submitters Inborn genetic diseases ⚠
- p.Ser962Arg Multiple submitters Inborn genetic diseases ⚠
- p.Thr1370Ile Multiple submitters ⚠
- p.Tyr389His Multiple submitters intellectual disability ⚠
- p.Val1438del Multiple submitters
- p.Val1448Met Multiple submitters Inborn genetic diseases ⚠
- p.Val631Ile Multiple submitters Inborn genetic diseases ⚠
- c.1157+3G>A Single submitter
- c.1158-5T>C Single submitter
- c.1367-3C>T Single submitter
- c.1506-2A>C Single submitter
- c.1506-4_1511del Single submitter
- c.1804+5G>A Single submitter
- c.1906+5G>C Single submitter
- c.249-2A>C Single submitter
- c.249-4C>G Single submitter
- c.3004-3C>A Single submitter
- c.3263+12C>G Single submitter
- c.3263+1G>A Single submitter
- c.3263+5G>C Single submitter
- c.3264-17C>G Single submitter
- c.3264-5C>G Single submitter
- c.3264-6C>G Single submitter
- p.Ala1148Thr Single submitter ⚠
- p.Ala1322Val Single submitter ⚠
- p.Ala1342Thr Single submitter Inborn genetic diseases ⚠
- p.Ala1366Asn Single submitter
- p.Ala1366Val Single submitter ⚠
- p.Ala1441Glu Single submitter Inborn genetic diseases ⚠
- p.Ala1464Ser Single submitter Inborn genetic diseases ⚠
- p.Ala1473Asp Single submitter ⚠
- p.Ala1513Gly Single submitter Inborn genetic diseases ⚠
- p.Ala1530Pro Single submitter ⚠
- p.Ala1530Thr Single submitter ⚠
- p.Ala1555Arg Single submitter
- p.Ala365Gly Single submitter ⚠
- p.Ala387Thr Single submitter ⚠
- p.Ala474Thr Single submitter Inborn genetic diseases ⚠
- p.Ala612Val Single submitter Inborn genetic diseases ⚠
- p.Ala638Thr Single submitter Inborn genetic diseases ⚠
- p.Ala74fs Single submitter
- p.Ala850Pro Single submitter ⚠
- p.Ala897Thr Single submitter Inborn genetic diseases ⚠
- p.Ala915Ser Single submitter Inborn genetic diseases ⚠
- p.Ala924Glu Single submitter Inborn genetic diseases ⚠
- p.Ala934Val Single submitter Inborn genetic diseases ⚠
- p.Ala983Thr Single submitter ⚠
- p.Arg1075Gly Single submitter Inborn genetic diseases ⚠
- p.Arg1096Trp Single submitter Inborn genetic diseases ⚠
- p.Arg1109Leu Single submitter ⚠
- p.Arg1142Ser Single submitter ⚠
- p.Arg117Cys Single submitter ⚠
- p.Arg1195Leu Single submitter ⚠
- p.Arg1324Trp Single submitter ⚠
- p.Arg1330Cys Single submitter
- p.Arg1384Trp Single submitter ⚠
- p.Arg1442fs Single submitter
- p.Arg1475Trp Single submitter Inborn genetic diseases ⚠
- p.Arg1495His Single submitter Inborn genetic diseases ⚠
- p.Arg151His Single submitter ⚠
- p.Arg151Leu Single submitter ⚠
- p.Arg1546Gly Single submitter Inborn genetic diseases ⚠
- p.Arg160Trp Single submitter ⚠
- p.Arg284His Single submitter ⚠
- p.Arg322His Single submitter ⚠
- p.Arg326Cys Single submitter ⚠
- p.Arg326His Single submitter ⚠
- p.Arg34Pro Single submitter ⚠
- p.Arg361His Single submitter ⚠
- p.Arg397Trp Single submitter Inborn genetic diseases ⚠
- p.Arg413His Single submitter ⚠
- p.Arg445Cys Single submitter Inborn genetic diseases ⚠
- p.Arg496Gly Single submitter ⚠
- p.Arg540Leu Single submitter ⚠
- p.Arg561His Single submitter Inborn genetic diseases ⚠
- p.Arg681_Tyr682del Single submitter
- p.Arg702His Single submitter ⚠
- p.Arg886Gln Single submitter ⚠
- p.Arg886Trp Single submitter Inborn genetic diseases
- p.Arg888Gln Single submitter Inborn genetic diseases ⚠
- p.Arg904Gln Single submitter ⚠
- p.Arg955Trp Single submitter ⚠
- p.Arg965Cys Single submitter Inborn genetic diseases ⚠
- p.Arg982Gly Single submitter ⚠
- p.Arg982Leu Single submitter ⚠
- p.Asn1077Lys Single submitter ⚠
- p.Asn1103Lys Single submitter ⚠
- p.Asn1115Thr Single submitter ⚠
- p.Asn1201Ser Single submitter Inborn genetic diseases ⚠
- p.Asn382Lys Single submitter ⚠
- p.Asn880Ser Single submitter ⚠
- p.Asp355Glu Single submitter ⚠
- p.Asp373Val Single submitter mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations ⚠
- p.Asp395Asn Single submitter Inborn genetic diseases ⚠
- p.Asp424Tyr Single submitter ⚠
- p.Asp538Glu Single submitter ⚠
- p.Asp610Val Single submitter Inborn genetic diseases
- p.Asp649Glu Single submitter ⚠
- p.Asp692Ala Single submitter ⚠
- p.Asp872His Single submitter ⚠
- p.Asp881Asn Single submitter ⚠
- p.Asp956Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys231Phe Single submitter ⚠
- p.Gln1010Arg Single submitter Inborn genetic diseases ⚠
- p.Gln1155Arg Single submitter ⚠
- p.Gln1215Leu Single submitter Inborn genetic diseases ⚠
- p.Gln843Glu Single submitter Inborn genetic diseases ⚠
- p.Glu1026Gln Single submitter ⚠
- p.Glu1026Lys Single submitter ⚠
- p.Glu1268Ter Single submitter
- p.Glu1348Asp Single submitter mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations ⚠
- p.Glu1367Lys Single submitter Inborn genetic diseases ⚠
- p.Glu1419Gln Single submitter ⚠
- p.Glu141Lys Single submitter ⚠
- p.Glu146Lys Single submitter ⚠
- p.Glu1483Gln Single submitter ⚠
- p.Glu1486Lys Single submitter Inborn genetic diseases ⚠
- p.Glu297Lys Single submitter Inborn genetic diseases ⚠
- p.Glu371_Asn372delinsAsp Single submitter
- p.Glu608Lys Single submitter ⚠
- p.Glu785Val Single submitter mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations ⚠
- p.Glu841Lys Single submitter Inborn genetic diseases ⚠
- p.Glu845fs Single submitter
- p.Glu845Lys Single submitter ⚠
- p.Glu854Gln Single submitter mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations ⚠
- p.Gly1013Glu Single submitter ⚠
- p.Gly1030Ser Single submitter ⚠
- p.Gly1085Ser Single submitter ⚠
- p.Gly1126Ala Single submitter Inborn genetic diseases ⚠
- p.Gly1151Ser Single submitter mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations ⚠
- p.Gly1349Val Single submitter ⚠
- p.Gly1365Ser Single submitter mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations ⚠
- p.Gly1444Arg Single submitter Inborn genetic diseases ⚠
- p.Gly1476Val Single submitter ⚠
- p.Gly148Ala Single submitter mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations ⚠
- p.Gly148Val Single submitter ⚠
- p.Gly1569Val Single submitter ⚠
- p.Gly347Asp Single submitter ⚠
- p.Gly347Ser Single submitter MAST1-related disorder ⚠
- p.Gly348Ser Single submitter Inborn genetic diseases ⚠
- p.Gly436Val Single submitter ⚠
- p.Gly634Glu Single submitter ⚠
- p.Gly86Arg Single submitter mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations ⚠
- p.Gly875Val Single submitter ⚠
- p.Gly894Arg Single submitter ⚠
- p.Gly907Ser Single submitter ⚠
- p.Gly974Asp Single submitter mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations ⚠
- p.His1022Gln Single submitter ⚠
- p.His1130Tyr Single submitter ⚠
- p.His1188Arg Single submitter ⚠
- p.His314Arg Single submitter Inborn genetic diseases ⚠
- p.His393Gln Single submitter ⚠
- p.His393Tyr Single submitter mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations ⚠
- p.His495fs Single submitter
- p.His997Tyr Single submitter
- p.Ile1202Met Single submitter ⚠
- p.Ile1436Val Single submitter ⚠
- p.Ile143Thr Single submitter ⚠
- p.Ile282Val Single submitter Inborn genetic diseases ⚠
- p.Ile377Val Single submitter ⚠
- p.Ile425Ser Single submitter ⚠
- p.Ile559Thr Single submitter ⚠
- p.Leu1105Lys Single submitter
- p.Leu1150= Single submitter
- p.Leu1204Pro Single submitter ⚠
- p.Leu1340Val Single submitter Inborn genetic diseases ⚠
- p.Leu1433Arg Single submitter ⚠
- p.Leu1533Val Single submitter Inborn genetic diseases ⚠
- p.Leu289Val Single submitter mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations ⚠
- p.Leu292Gln Single submitter mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations ⚠
- p.Leu303Pro Single submitter ⚠
- p.Leu526Pro Single submitter Inborn genetic diseases ⚠
- p.Leu882Phe Single submitter ⚠
- p.Lys1042Asn Single submitter ⚠
- p.Lys1046Gln Single submitter
- p.Lys1070Asn Single submitter Inborn genetic diseases ⚠
- p.Lys1197Thr Single submitter Inborn genetic diseases ⚠
- p.Lys1251Arg Single submitter ⚠
- p.Lys1278_Lys1279delinsPheLeu Single submitter
- p.Lys1278Arg Single submitter Inborn genetic diseases ⚠
- p.Lys1358Arg Single submitter ⚠
- p.Lys1502Asn Single submitter ⚠
- p.Lys1559Arg Single submitter Inborn genetic diseases ⚠
- p.Lys1560_Gly1561delinsArg Single submitter
- p.Lys1560Ile Single submitter ⚠
- p.Lys311Gln Single submitter ⚠
- p.Lys512Arg Single submitter ⚠
- p.Lys713Arg Single submitter ⚠
- p.Met402Val Single submitter ⚠
- p.Met451Ile Single submitter ⚠
- p.Met476Leu Single submitter Inborn genetic diseases ⚠
- p.Met521Val Single submitter ⚠
- p.Met921Thr Single submitter ⚠
- p.Phe1054Leu Single submitter ⚠
- p.Phe639Leu Single submitter ⚠
- p.Phe704Leu Single submitter mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations ⚠
- p.Pro1053Ser Single submitter Inborn genetic diseases ⚠
- p.Pro1080Arg Single submitter ⚠
- p.Pro1133Arg Single submitter ⚠
- p.Pro1164Arg Single submitter ⚠
- p.Pro1177Thr Single submitter ⚠
- p.Pro1236Arg Single submitter ⚠
- p.Pro1236Leu Single submitter ⚠
- p.Pro1250Ala Single submitter ⚠
- p.Pro1256Leu Single submitter Inborn genetic diseases ⚠
- p.Pro1292Leu Single submitter ⚠
- p.Pro1315Thr Single submitter Inborn genetic diseases ⚠
- p.Pro1316Gln Single submitter ⚠
- p.Pro1323Ser Single submitter ⚠
- p.Pro1363fs Single submitter
- p.Pro1371Arg Single submitter ⚠
- p.Pro1432His Single submitter ⚠
- p.Pro1435Ser Single submitter ⚠
- p.Pro1443del Single submitter
- p.Pro1452Thr Single submitter ⚠
- p.Pro1465Ser Single submitter Inborn genetic diseases ⚠
- p.Pro1498Ser Single submitter Inborn genetic diseases ⚠
- p.Pro1501Ser Single submitter ⚠
- p.Pro1505Gln Single submitter Inborn genetic diseases ⚠
- p.Pro1505Ser Single submitter ⚠
- p.Pro1526Thr Single submitter ⚠
- p.Pro1548Leu Single submitter ⚠
- p.Pro1554fs Single submitter
- p.Pro1567Leu Single submitter ⚠
- p.Pro1568Leu Single submitter ⚠
- p.Pro1570Leu Single submitter ⚠
- p.Pro334His Single submitter
- p.Pro336Ser Single submitter ⚠
- p.Pro368Arg Single submitter Inborn genetic diseases ⚠
- p.Pro368Ser Single submitter ⚠
- p.Pro470Thr Single submitter ⚠
- p.Pro709Ala Single submitter ⚠
- p.Pro709Leu Single submitter ⚠
- p.Pro771Arg Single submitter mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
- p.Pro771Thr Single submitter mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations ⚠
- p.Pro859Leu Single submitter Inborn genetic diseases ⚠
- p.Pro861Thr Single submitter Inborn genetic diseases ⚠
- p.Pro866Ser Single submitter ⚠
- p.Pro876Arg Single submitter ⚠
- p.Pro936Leu Single submitter ⚠
- p.Ser1092Thr Single submitter ⚠
- p.Ser1117Leu Single submitter ⚠
- p.Ser1143Phe Single submitter ⚠
- p.Ser1157Thr Single submitter Inborn genetic diseases ⚠
- p.Ser1162Ile Single submitter ⚠
- p.Ser1242Ter Single submitter
- p.Ser1351Phe Single submitter ⚠
- p.Ser1356Leu Single submitter MAST1-related disorder ⚠
- p.Ser1362Phe Single submitter ⚠
- p.Ser1393Asn Single submitter Inborn genetic diseases ⚠
- p.Ser1425Thr Single submitter ⚠
- p.Ser1500Cys Single submitter Inborn genetic diseases ⚠
- p.Ser1511Cys Single submitter Inborn genetic diseases ⚠
- p.Ser1518Arg Single submitter Inborn genetic diseases ⚠
- p.Ser1535Leu Single submitter
- p.Ser36Gly Single submitter ⚠
- p.Ser525Asn Single submitter mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations ⚠
- p.Ser60_Ser64del Single submitter
- p.Ser623Asn Single submitter Inborn genetic diseases ⚠
- p.Ser64Asn Single submitter ⚠
- p.Ser668Leu Single submitter ⚠
- p.Ser668Ter Single submitter
- p.Ser782Cys Single submitter ⚠
- p.Ser893Leu Single submitter Inborn genetic diseases ⚠
- p.Ser951Phe Single submitter Inborn genetic diseases ⚠
- p.Ser951Pro Single submitter Inborn genetic diseases ⚠
- p.Thr103Lys Single submitter ⚠
- p.Thr1144Met Single submitter mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations ⚠
- p.Thr1232Ala Single submitter ⚠