MTCL1 — 358 ClinVar variants
All ClinVar germline MTCL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 274 flagged for review →
1 Pathogenic · 1 Conflicting · 7 Benign · 49 Likely benign · 300 Uncertain significance
Full MTCL1 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.
-
MTCL1 p.Arg1892Gln
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 238
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 238
-
MTCL1 p.Thr562Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MTCL1 p.Ala1164Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Ala1182Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Ala1220Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Ala1424Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Ala1654Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Ala1731Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Ala1928Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Ala386Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Ala684Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Ala688Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Ala692Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Ala733Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Ala739Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Ala739Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Ala751Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Ala751Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Ala842Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Ala848Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Ala881Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Ala964Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Ala971Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg1058Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg1072Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg1072Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg1137Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg1160Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg1191His
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg1191Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg1195Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg1203Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg1225His
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg1272His
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg1321Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg1322Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg1345His
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg1348Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg1348His
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg1366Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg1435His
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg1500Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg1551Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg1560Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg1607Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg1607Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg1614Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg1615His
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg1675Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg1675Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg1723Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg1829Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg1831Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg1836Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg1850Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg446His
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg457Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg570Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg583Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg583Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg603Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg608Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg608Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg613Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg649Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg660Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg675Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg675Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg738His
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg743Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg743Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg762Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg762His
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg823Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg826Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg830Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg845Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg895Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg921Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg956Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg962Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg962Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg965Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg970Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Asn1334Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Asn1800His
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Asn387Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Asn894Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Asp1494Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Asp1563Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Asp1608Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Asp1764Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Asp810Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Asp935Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Cys1328Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Cys1622Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Cys985Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Cys985Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Gln1547Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Gln1765Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Gln1817His
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Gln471Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Gln695Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Gln765His
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Glu1101Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Glu1198Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Glu1317Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Glu1393Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Glu1403Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Glu1497Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Glu1504Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Glu1929Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Glu566Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Glu629Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Glu642Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Glu665Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Glu820Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Glu885Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Glu942Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Glu955Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Gly1108Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Gly1118Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Gly1144Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Gly1333Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Gly1333Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Gly1342Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Gly1569Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Gly1589Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Gly1658Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Gly1660Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Gly1698Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Gly1698Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Gly1714Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Gly1846Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Gly1913Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Gly1916Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Gly689Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Gly710Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Gly852Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Gly857Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Gly857Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Gly873Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Gly949Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Gly973Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Gly976Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Gly979Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.His1503Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.His1554Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.His1632Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.His734Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.His840Asn
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 35
The independent predictors disagree with each other — read with care.
- MTCL1 p.Met879Val Benign Multiple submitters
-
MTCL1 p.Ala449Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg1284Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg1302Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg1435Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg1757Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg476Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg520Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg593Cys
Uncertain significance
Single submitter
autosomal dominant cerebellar ataxia
-
MTCL1 p.Arg635Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg702Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Arg768Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Asp1211Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Asp1643Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Asp548His
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Gly1714Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Gly558Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Gly773Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Ile875Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Leu1755Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Leu647Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Lys1474Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Lys1754Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Lys1754Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Phe1141Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Phe912Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Pro1753Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Ser549Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Ser918Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Thr410Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Trp1476Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Trp1515Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Val1427Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Val590Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
MTCL1 p.Val712Met
Uncertain significance
Single submitter
Inborn genetic diseases
All MTCL1 variants
Pathogenic 1
- p.Gln377Ter No assertion criteria cerebellar ataxia
Conflicting classifications of pathogenicity 1
- p.Arg1892Gln Single submitter Inborn genetic diseases ⚠
Benign 7
- p.Cys1534= Multiple submitters
- p.Glu780Asp Multiple submitters
- p.Lys1075= Multiple submitters
- p.Met879Val Multiple submitters ⚠
- p.Thr1885= Multiple submitters
- p.Ala276= Single submitter cerebellar ataxia
- p.Arg1615Cys Single submitter
Likely benign 49
- p.Ala964Thr Multiple submitters Inborn genetic diseases
- p.Gly846Ala Multiple submitters Inborn genetic diseases
- p.Ile925Val Multiple submitters Inborn genetic diseases
- c.5803-2645G>A Single submitter
- c.5803-2687T>G Single submitter Inborn genetic diseases
- p.Ala1128Val Single submitter Inborn genetic diseases
- p.Ala1164Thr Single submitter Inborn genetic diseases
- p.Ala1244Thr Single submitter Inborn genetic diseases
- p.Ala1493Asp Single submitter Inborn genetic diseases
- p.Ala1567Val Single submitter Inborn genetic diseases
- p.Ala58Val Single submitter
- p.Ala964Ser Single submitter Inborn genetic diseases
- p.Arg1199His Single submitter Inborn genetic diseases
- p.Arg1302Gln Single submitter Inborn genetic diseases
- p.Arg1500Trp Single submitter Inborn genetic diseases
- p.Arg1825Gln Single submitter Inborn genetic diseases
- p.Arg1831His Single submitter Inborn genetic diseases
- p.Arg960His Single submitter Inborn genetic diseases
- p.Arg962_Glu966del Single submitter
- p.Arg969Cys Single submitter Inborn genetic diseases
- p.Asp1490= Single submitter
- p.Asp1494Glu Single submitter Inborn genetic diseases
- p.Asp1926Val Single submitter Inborn genetic diseases
- p.Glu1285= Single submitter
- p.Glu1661Lys Single submitter
- p.Gly1658Ser Single submitter Inborn genetic diseases
- p.Gly979Arg Single submitter Inborn genetic diseases
- p.His1149Asp Single submitter Inborn genetic diseases
- p.His819= Single submitter
- p.His840Arg Single submitter Inborn genetic diseases
- p.Ile1809= Single submitter
- p.Leu715Gln Single submitter
- p.Lys1184Arg Single submitter
- p.Lys883Arg Single submitter Inborn genetic diseases
- p.Met1346Val Single submitter Inborn genetic diseases
- p.Phe624= Single submitter
- p.Pro113= Single submitter
- p.Pro1489Leu Single submitter
- p.Pro1583Leu Single submitter Inborn genetic diseases
- p.Pro1932Ser Single submitter Inborn genetic diseases
- p.Pro611Leu Single submitter Inborn genetic diseases
- p.Ser1181Asn Single submitter Inborn genetic diseases
- p.Ser1278= Single submitter
- p.Ser1719Leu Single submitter Inborn genetic diseases
- p.Thr553Met Single submitter Inborn genetic diseases
- p.Thr632Ala Single submitter Inborn genetic diseases
- p.Val1221Met Single submitter Inborn genetic diseases
- p.Val1559Met Single submitter Inborn genetic diseases
- p.Val1699Ile Single submitter Inborn genetic diseases
Uncertain significance 300
- p.Thr562Ala Multiple submitters Inborn genetic diseases ⚠
- c.3939+3A>G Single submitter Inborn genetic diseases
- p.Ala1013Val Single submitter Inborn genetic diseases
- p.Ala1164Val Single submitter Inborn genetic diseases ⚠
- p.Ala1182Thr Single submitter Inborn genetic diseases ⚠
- p.Ala1220Ser Single submitter Inborn genetic diseases ⚠
- p.Ala1424Val Single submitter Inborn genetic diseases ⚠
- p.Ala1648Gly Single submitter Inborn genetic diseases
- p.Ala1654Val Single submitter Inborn genetic diseases ⚠
- p.Ala1731Val Single submitter Inborn genetic diseases ⚠
- p.Ala1928Asp Single submitter Inborn genetic diseases ⚠
- p.Ala386Thr Single submitter Inborn genetic diseases ⚠
- p.Ala449Gly Single submitter Inborn genetic diseases ⚠
- p.Ala512Gly Single submitter Inborn genetic diseases
- p.Ala516Val Single submitter Inborn genetic diseases
- p.Ala684Gly Single submitter Inborn genetic diseases ⚠
- p.Ala688Thr Single submitter Inborn genetic diseases ⚠
- p.Ala692Asp Single submitter Inborn genetic diseases ⚠
- p.Ala733Thr Single submitter Inborn genetic diseases ⚠
- p.Ala739Asp Single submitter Inborn genetic diseases ⚠
- p.Ala739Val Single submitter Inborn genetic diseases ⚠
- p.Ala751Thr Single submitter Inborn genetic diseases ⚠
- p.Ala751Val Single submitter Inborn genetic diseases ⚠
- p.Ala842Val Single submitter Inborn genetic diseases ⚠
- p.Ala848Val Single submitter Inborn genetic diseases ⚠
- p.Ala881Gly Single submitter Inborn genetic diseases ⚠
- p.Ala964Val Single submitter Inborn genetic diseases ⚠
- p.Ala971Thr Single submitter Inborn genetic diseases ⚠
- p.Arg1058Gln Single submitter Inborn genetic diseases ⚠
- p.Arg1072Gln Single submitter Inborn genetic diseases ⚠
- p.Arg1072Trp Single submitter Inborn genetic diseases ⚠
- p.Arg1137Gln Single submitter Inborn genetic diseases ⚠
- p.Arg1160Gln Single submitter Inborn genetic diseases ⚠
- p.Arg1191His Single submitter Inborn genetic diseases ⚠
- p.Arg1191Pro Single submitter Inborn genetic diseases ⚠
- p.Arg1195Gln Single submitter Inborn genetic diseases ⚠
- p.Arg1203Gln Single submitter Inborn genetic diseases ⚠
- p.Arg1225His Single submitter Inborn genetic diseases ⚠
- p.Arg1272His Single submitter Inborn genetic diseases ⚠
- p.Arg1284Trp Single submitter Inborn genetic diseases ⚠
- p.Arg1302Trp Single submitter Inborn genetic diseases ⚠
- p.Arg1321Gln Single submitter Inborn genetic diseases ⚠
- p.Arg1322Ser Single submitter Inborn genetic diseases ⚠
- p.Arg1345His Single submitter Inborn genetic diseases ⚠
- p.Arg1348Cys Single submitter Inborn genetic diseases ⚠
- p.Arg1348His Single submitter Inborn genetic diseases ⚠
- p.Arg1366Trp Single submitter Inborn genetic diseases ⚠
- p.Arg1435Cys Single submitter Inborn genetic diseases ⚠
- p.Arg1435His Single submitter Inborn genetic diseases ⚠
- p.Arg1500Pro Single submitter Inborn genetic diseases ⚠
- p.Arg1551Cys Single submitter Inborn genetic diseases ⚠
- p.Arg1560Cys Single submitter Inborn genetic diseases ⚠
- p.Arg1607Gln Single submitter Inborn genetic diseases ⚠
- p.Arg1607Trp Single submitter Inborn genetic diseases ⚠
- p.Arg1614Gln Single submitter Inborn genetic diseases ⚠
- p.Arg1615His Single submitter Inborn genetic diseases ⚠
- p.Arg1675Gln Single submitter Inborn genetic diseases ⚠
- p.Arg1675Trp Single submitter Inborn genetic diseases ⚠
- p.Arg1723Gln Single submitter Inborn genetic diseases ⚠
- p.Arg1757Gly Single submitter Inborn genetic diseases ⚠
- p.Arg1829Gln Single submitter Inborn genetic diseases ⚠
- p.Arg1831Cys Single submitter Inborn genetic diseases ⚠
- p.Arg1836Gln Single submitter Inborn genetic diseases ⚠
- p.Arg1850Gln Single submitter Inborn genetic diseases ⚠
- p.Arg1892Trp Single submitter Inborn genetic diseases
- p.Arg446His Single submitter Inborn genetic diseases ⚠
- p.Arg457Gln Single submitter Inborn genetic diseases ⚠
- p.Arg476Ser Single submitter Inborn genetic diseases ⚠
- p.Arg520Cys Single submitter Inborn genetic diseases ⚠
- p.Arg570Trp Single submitter Inborn genetic diseases ⚠
- p.Arg583Gln Single submitter Inborn genetic diseases ⚠
- p.Arg583Trp Single submitter Inborn genetic diseases ⚠
- p.Arg593Cys Single submitter autosomal dominant cerebellar ataxia ⚠
- p.Arg603Gln Single submitter Inborn genetic diseases ⚠
- p.Arg608Gln Single submitter Inborn genetic diseases ⚠
- p.Arg608Trp Single submitter Inborn genetic diseases ⚠
- p.Arg613Trp Single submitter Inborn genetic diseases ⚠
- p.Arg635Cys Single submitter Inborn genetic diseases ⚠
- p.Arg636Cys Single submitter Inborn genetic diseases
- p.Arg649Gln Single submitter Inborn genetic diseases
- p.Arg649Trp Single submitter Inborn genetic diseases ⚠
- p.Arg660Gln Single submitter Inborn genetic diseases ⚠
- p.Arg675Gln Single submitter Inborn genetic diseases ⚠
- p.Arg675Trp Single submitter Inborn genetic diseases ⚠
- p.Arg702Ser Single submitter Inborn genetic diseases ⚠
- p.Arg738His Single submitter Inborn genetic diseases ⚠
- p.Arg743Gln Single submitter Inborn genetic diseases ⚠
- p.Arg743Trp Single submitter Inborn genetic diseases ⚠
- p.Arg762Cys Single submitter Inborn genetic diseases ⚠
- p.Arg762His Single submitter Inborn genetic diseases ⚠
- p.Arg768Pro Single submitter Inborn genetic diseases ⚠
- p.Arg768Trp Single submitter Inborn genetic diseases
- p.Arg823Trp Single submitter Inborn genetic diseases ⚠
- p.Arg826Trp Single submitter Inborn genetic diseases ⚠
- p.Arg830Cys Single submitter Inborn genetic diseases ⚠
- p.Arg845Trp Single submitter Inborn genetic diseases ⚠
- p.Arg895Cys Single submitter Inborn genetic diseases ⚠
- p.Arg921Trp Single submitter Inborn genetic diseases ⚠
- p.Arg956Trp Single submitter Inborn genetic diseases ⚠
- p.Arg962Gln Single submitter Inborn genetic diseases ⚠
- p.Arg962Pro Single submitter Inborn genetic diseases ⚠
- p.Arg965Gln Single submitter Inborn genetic diseases ⚠
- p.Arg970Cys Single submitter Inborn genetic diseases ⚠
- p.Asn1026Asp Single submitter Inborn genetic diseases
- p.Asn1334Lys Single submitter Inborn genetic diseases ⚠
- p.Asn1800His Single submitter Inborn genetic diseases ⚠
- p.Asn387Asp Single submitter Inborn genetic diseases ⚠
- p.Asn894Asp Single submitter Inborn genetic diseases ⚠
- p.Asp1211Asn Single submitter Inborn genetic diseases ⚠
- p.Asp1494Asn Single submitter Inborn genetic diseases ⚠
- p.Asp1563Asn Single submitter Inborn genetic diseases ⚠
- p.Asp1608Val Single submitter Inborn genetic diseases ⚠
- p.Asp1643Gly Single submitter Inborn genetic diseases ⚠
- p.Asp1764Asn Single submitter Inborn genetic diseases ⚠
- p.Asp1811Asn Single submitter Inborn genetic diseases
- p.Asp548His Single submitter Inborn genetic diseases ⚠
- p.Asp810Asn Single submitter Inborn genetic diseases ⚠
- p.Asp935Gly Single submitter Inborn genetic diseases ⚠
- p.Cys1328Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys1622Ser Single submitter Inborn genetic diseases ⚠
- p.Cys985Arg Single submitter Inborn genetic diseases ⚠
- p.Cys985Ser Single submitter Inborn genetic diseases ⚠
- p.Gln1547Glu Single submitter Inborn genetic diseases ⚠
- p.Gln1765Glu Single submitter Inborn genetic diseases ⚠
- p.Gln1817His Single submitter Inborn genetic diseases ⚠
- p.Gln471Arg Single submitter Inborn genetic diseases ⚠
- p.Gln695Pro Single submitter Inborn genetic diseases ⚠
- p.Gln765His Single submitter Inborn genetic diseases ⚠
- p.Glu1101Lys Single submitter Inborn genetic diseases ⚠
- p.Glu1198Lys Single submitter Inborn genetic diseases ⚠
- p.Glu1285Gln Single submitter Inborn genetic diseases
- p.Glu1317Ala Single submitter Inborn genetic diseases ⚠
- p.Glu1393Lys Single submitter Inborn genetic diseases ⚠
- p.Glu1403Lys Single submitter Inborn genetic diseases ⚠
- p.Glu1497Lys Single submitter Inborn genetic diseases ⚠
- p.Glu1504Lys Single submitter Inborn genetic diseases ⚠
- p.Glu1888Lys Single submitter Inborn genetic diseases
- p.Glu1929Gln Single submitter Inborn genetic diseases ⚠
- p.Glu529Lys Single submitter Inborn genetic diseases
- p.Glu566Lys Single submitter Inborn genetic diseases ⚠
- p.Glu629Asp Single submitter Inborn genetic diseases ⚠
- p.Glu642Gly Single submitter Inborn genetic diseases ⚠
- p.Glu656Lys Single submitter Inborn genetic diseases
- p.Glu665Lys Single submitter Inborn genetic diseases ⚠
- p.Glu820Lys Single submitter Inborn genetic diseases ⚠
- p.Glu885Asp Single submitter Inborn genetic diseases ⚠
- p.Glu942Gln Single submitter Inborn genetic diseases ⚠
- p.Glu955Lys Single submitter Inborn genetic diseases ⚠
- p.Gly1108Asp Single submitter Inborn genetic diseases ⚠
- p.Gly1118Arg Single submitter Inborn genetic diseases ⚠
- p.Gly1144Arg Single submitter Inborn genetic diseases ⚠
- p.Gly1333Arg Single submitter Inborn genetic diseases ⚠
- p.Gly1333Ser Single submitter Inborn genetic diseases ⚠
- p.Gly1342Glu Single submitter Inborn genetic diseases ⚠
- p.Gly1569Val Single submitter Inborn genetic diseases ⚠
- p.Gly1589Arg Single submitter Inborn genetic diseases ⚠
- p.Gly1658Cys Single submitter Inborn genetic diseases ⚠
- p.Gly1660Ala Single submitter Inborn genetic diseases ⚠
- p.Gly1678Glu Single submitter Inborn genetic diseases
- p.Gly1698Cys Single submitter Inborn genetic diseases ⚠
- p.Gly1698Ser Single submitter Inborn genetic diseases ⚠
- p.Gly1714Asp Single submitter Inborn genetic diseases ⚠
- p.Gly1714Ser Single submitter Inborn genetic diseases ⚠
- p.Gly1846Asp Single submitter Inborn genetic diseases ⚠
- p.Gly1913Arg Single submitter Inborn genetic diseases ⚠
- p.Gly1916Ala Single submitter Inborn genetic diseases ⚠
- p.Gly558Arg Single submitter Inborn genetic diseases ⚠
- p.Gly689Arg Single submitter Inborn genetic diseases ⚠
- p.Gly710Arg Single submitter Inborn genetic diseases ⚠
- p.Gly736Arg Single submitter Inborn genetic diseases
- p.Gly773Val Single submitter Inborn genetic diseases ⚠
- p.Gly852Val Single submitter Inborn genetic diseases ⚠
- p.Gly857Asp Single submitter Inborn genetic diseases ⚠
- p.Gly857Cys Single submitter Inborn genetic diseases ⚠
- p.Gly873Arg Single submitter Inborn genetic diseases ⚠
- p.Gly926Arg Single submitter Inborn genetic diseases
- p.Gly949Arg Single submitter Inborn genetic diseases ⚠
- p.Gly973Arg Single submitter Inborn genetic diseases ⚠
- p.Gly976Arg Single submitter Inborn genetic diseases ⚠
- p.Gly979Glu Single submitter Inborn genetic diseases ⚠
- p.Gly992Ala Single submitter Inborn genetic diseases
- p.His1503Tyr Single submitter Inborn genetic diseases ⚠
- p.His1554Gln Single submitter Inborn genetic diseases ⚠
- p.His1632Arg Single submitter Inborn genetic diseases ⚠
- p.His734Tyr Single submitter Inborn genetic diseases ⚠
- p.His840Asn Single submitter Inborn genetic diseases ⚠
- p.His905Tyr Single submitter Inborn genetic diseases ⚠
- p.Ile585Val Single submitter Inborn genetic diseases ⚠
- p.Ile875Thr Single submitter Inborn genetic diseases ⚠
- p.Ile896Thr Single submitter Inborn genetic diseases ⚠
- p.Leu1044Val Single submitter Inborn genetic diseases ⚠
- p.Leu1117Phe Single submitter Inborn genetic diseases ⚠
- p.Leu1120Phe Single submitter Inborn genetic diseases ⚠
- p.Leu1222Pro Single submitter Inborn genetic diseases ⚠
- p.Leu1271Met Single submitter Inborn genetic diseases ⚠
- p.Leu1327His Single submitter Inborn genetic diseases ⚠
- p.Leu1621Phe Single submitter Inborn genetic diseases ⚠
- p.Leu1755Pro Single submitter Inborn genetic diseases ⚠
- p.Leu569Val Single submitter Inborn genetic diseases ⚠
- p.Leu647Phe Single submitter Inborn genetic diseases ⚠
- p.Leu666His Single submitter Inborn genetic diseases ⚠
- p.Leu731Val Single submitter Inborn genetic diseases ⚠
- p.Leu804Phe Single submitter Inborn genetic diseases ⚠
- p.Leu948Arg Single submitter Inborn genetic diseases ⚠
- p.Lys1446Asn Single submitter Inborn genetic diseases ⚠
- p.Lys1467Arg Single submitter Inborn genetic diseases ⚠
- p.Lys1474Arg Single submitter Inborn genetic diseases ⚠
- p.Lys1474Glu Single submitter ⚠
- p.Lys1474Thr Single submitter Inborn genetic diseases ⚠
- p.Lys1754Asn Single submitter Inborn genetic diseases ⚠
- p.Lys1754Thr Single submitter Inborn genetic diseases ⚠
- p.Lys513Gln Single submitter Inborn genetic diseases
- p.Lys541Asn Single submitter Inborn genetic diseases ⚠
- p.Lys754Glu Single submitter Inborn genetic diseases ⚠
- p.Lys792Asn Single submitter Inborn genetic diseases ⚠
- p.Lys818Gln Single submitter Inborn genetic diseases ⚠
- p.Met1346Ile Single submitter Inborn genetic diseases ⚠
- p.Met1528Val Single submitter Inborn genetic diseases ⚠
- p.Met1677Leu Single submitter Inborn genetic diseases ⚠
- p.Phe1141Leu Single submitter Inborn genetic diseases ⚠
- p.Phe912Ser Single submitter Inborn genetic diseases ⚠
- p.Pro1362Leu Single submitter Inborn genetic diseases ⚠
- p.Pro1449Leu Single submitter Inborn genetic diseases ⚠
- p.Pro1531Ala Single submitter Inborn genetic diseases ⚠
- p.Pro1531Leu Single submitter Inborn genetic diseases ⚠
- p.Pro1556Leu Single submitter Inborn genetic diseases ⚠
- p.Pro1620Ser Single submitter Inborn genetic diseases ⚠
- p.Pro1753Ser Single submitter Inborn genetic diseases ⚠
- p.Pro1837Ser Single submitter Inborn genetic diseases ⚠
- p.Pro1837Thr Single submitter Inborn genetic diseases ⚠
- p.Pro1854Ser Single submitter Inborn genetic diseases ⚠
- p.Pro1856Leu Single submitter Inborn genetic diseases ⚠
- p.Pro1881Leu Single submitter Inborn genetic diseases ⚠
- p.Pro1914Ser Single submitter Inborn genetic diseases ⚠
- p.Pro1915Ala Single submitter Inborn genetic diseases ⚠
- p.Pro311Ala Single submitter ⚠
- p.Pro611Arg Single submitter Inborn genetic diseases ⚠
- p.Pro686Ser Single submitter Inborn genetic diseases ⚠
- p.Pro801Thr Single submitter Inborn genetic diseases ⚠
- p.Pro851Leu Single submitter Inborn genetic diseases ⚠
- p.Pro869His Single submitter Inborn genetic diseases ⚠
- p.Pro902Thr Single submitter Inborn genetic diseases ⚠
- p.Pro993Leu Single submitter Inborn genetic diseases
- p.Pro997His Single submitter Inborn genetic diseases
- p.Ser1002Tyr Single submitter Inborn genetic diseases
- p.Ser1147Phe Single submitter Inborn genetic diseases ⚠
- p.Ser1210Gly Single submitter Inborn genetic diseases ⚠
- p.Ser1242Phe Single submitter Inborn genetic diseases ⚠
- p.Ser1246Arg Single submitter Inborn genetic diseases ⚠
- p.Ser1360Pro Single submitter Inborn genetic diseases ⚠
- p.Ser1369Cys Single submitter Inborn genetic diseases ⚠
- p.Ser1513Ala Single submitter Inborn genetic diseases ⚠
- p.Ser1513Phe Single submitter Inborn genetic diseases ⚠
- p.Ser1513Tyr Single submitter Inborn genetic diseases ⚠
- p.Ser1596Arg Single submitter Inborn genetic diseases ⚠
- p.Ser1727Asn Single submitter Inborn genetic diseases ⚠
- p.Ser1780Gly Single submitter Inborn genetic diseases ⚠
- p.Ser1923Leu Single submitter Inborn genetic diseases ⚠
- p.Ser404Gly Single submitter Inborn genetic diseases ⚠
- p.Ser549Arg Single submitter Inborn genetic diseases ⚠
- p.Ser622Pro Single submitter Inborn genetic diseases ⚠
- p.Ser667Thr Single submitter Inborn genetic diseases ⚠
- p.Ser794Leu Single submitter Inborn genetic diseases ⚠
- p.Ser910Phe Single submitter Inborn genetic diseases ⚠
- p.Ser911Gly Single submitter Inborn genetic diseases ⚠
- p.Ser914Cys Single submitter Inborn genetic diseases ⚠
- p.Ser918Phe Single submitter Inborn genetic diseases ⚠
- p.Thr1021Ser Single submitter Inborn genetic diseases
- p.Thr1545Ile Single submitter Inborn genetic diseases ⚠
- p.Thr1601Asn Single submitter Inborn genetic diseases ⚠
- p.Thr1676Met Single submitter Inborn genetic diseases ⚠
- p.Thr1681Ala Single submitter Inborn genetic diseases ⚠
- p.Thr1691Ala Single submitter Inborn genetic diseases
- p.Thr1847Ile Single submitter Inborn genetic diseases ⚠
- p.Thr410Lys Single submitter Inborn genetic diseases ⚠
- p.Thr632Ser Single submitter Inborn genetic diseases ⚠
- p.Thr785Met Single submitter Inborn genetic diseases ⚠
- p.Thr827Ala Single submitter Inborn genetic diseases ⚠
- p.Thr827Met Single submitter Inborn genetic diseases ⚠
- p.Thr833Met Single submitter Inborn genetic diseases ⚠
- p.Trp1215Cys Single submitter Inborn genetic diseases ⚠
- p.Trp1300Arg Single submitter Inborn genetic diseases ⚠
- p.Trp1476Arg Single submitter Inborn genetic diseases ⚠
- p.Trp1515Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr1478Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr540Cys Single submitter Inborn genetic diseases ⚠
- p.Val1083Ile Single submitter Inborn genetic diseases ⚠
- p.Val1217Met Single submitter Inborn genetic diseases ⚠
- p.Val1427Met Single submitter Inborn genetic diseases ⚠
- p.Val1543Ile Single submitter Inborn genetic diseases ⚠
- p.Val1552Met Single submitter Inborn genetic diseases ⚠
- p.Val1651Gly Single submitter Inborn genetic diseases
- p.Val1718Met Single submitter Inborn genetic diseases ⚠
- p.Val1737Met Single submitter Inborn genetic diseases ⚠
- p.Val1815Met Single submitter Inborn genetic diseases ⚠
- p.Val590Gly Single submitter Inborn genetic diseases ⚠
- p.Val712Met Single submitter Inborn genetic diseases ⚠
- p.Val919Met Single submitter Inborn genetic diseases ⚠
- p.Val995fs Single submitter
- p.Val995Ile Single submitter Inborn genetic diseases