TMPO — 830 ClinVar variants
All ClinVar germline TMPO variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 446 flagged for review →
31 Conflicting · 40 Benign · 18 Benign/Likely benign · 236 Likely benign · 505 Uncertain significance
Full TMPO gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 446
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 25
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
TMPO c.565+1033C>T
Conflicting
Single submitter
Loeys-Dietz syndrome 2
-
TMPO c.565+1186T>A
Conflicting
Single submitter
Loeys-Dietz syndrome 2
-
TMPO c.565+1213G>A
Conflicting
Single submitter
Loeys-Dietz syndrome 2
-
TMPO c.565+1287A>G
Conflicting
Single submitter
Loeys-Dietz syndrome 2
-
TMPO c.565+1310G>C
Conflicting
Single submitter
Loeys-Dietz syndrome 2
-
TMPO c.565+1390A>G
Conflicting
Single submitter
Loeys-Dietz syndrome 2
-
TMPO c.565+1468A>G
Conflicting
Single submitter
Loeys-Dietz syndrome 2
-
TMPO c.565+1584G>A
Conflicting
Single submitter
Loeys-Dietz syndrome 2
-
TMPO c.565+1617A>G
Conflicting
Single submitter
Loeys-Dietz syndrome 2
-
TMPO c.565+1641A>G
Conflicting
Single submitter
Loeys-Dietz syndrome 2
-
TMPO c.565+1662T>G
Conflicting
Single submitter
long QT syndrome
-
TMPO c.565+1782G>A
Conflicting
Single submitter
Loeys-Dietz syndrome 2
-
TMPO c.565+1848G>A
Conflicting
Single submitter
Loeys-Dietz syndrome 2
-
TMPO c.565+1899T>C
Conflicting
Single submitter
Loeys-Dietz syndrome 2
-
TMPO c.565+1968G>A
Conflicting
Single submitter
hypertrophic cardiomyopathy
-
TMPO c.565+2102C>G
Conflicting
Single submitter
Loeys-Dietz syndrome 2
-
TMPO c.565+2149C>T
Conflicting
Single submitter
Loeys-Dietz syndrome 2
-
TMPO c.565+2188C>T
Conflicting
Single submitter
Loeys-Dietz syndrome 2
-
TMPO c.565+2247C>T
Conflicting
Single submitter
Loeys-Dietz syndrome 2
-
TMPO c.565+2353A>G
Conflicting
Single submitter
Loeys-Dietz syndrome 2
-
TMPO c.565+2361G>T
Conflicting
Single submitter
Loeys-Dietz syndrome 2
-
TMPO c.565+2487C>T
Conflicting
Single submitter
Dilated cardiomyopathy 1T
-
TMPO p.Ala55Val
Conflicting
Single submitter
Loeys-Dietz syndrome 2
-
TMPO p.Asn186Ser
Conflicting
Single submitter
Loeys-Dietz syndrome 2
-
TMPO p.Asp106Glu
Conflicting
Single submitter
Loeys-Dietz syndrome 2
Predictors lean, ClinVar uncertain 367
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 367
-
TMPO c.565+1009T>C
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1017A>G
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1026A>G
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1029G>T
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1048G>C
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1053A>G
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1069G>A
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1084T>A
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1104A>C
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1107C>T
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1114C>T
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1128G>A
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1137G>A
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1155A>G
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1165G>C
Uncertain significance
Multiple submitters
dilated cardiomyopathy
-
TMPO c.565+1168A>T
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1169C>G
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1183C>T
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1197A>G
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1246T>C
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1275A>G
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1278T>C
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1297C>T
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1302T>C
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1305T>G
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1317C>T
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1318A>G
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1328G>T
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1361T>G
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1372C>T
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1384A>G
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1392A>G
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1410G>A
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1420A>G
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1449A>G
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1452T>C
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1471C>T
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1474C>T
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1531C>T
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1540C>T
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1548A>G
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1567C>T
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1576T>C
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1587G>A
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1597T>C
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1609C>G
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1611A>C
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1623C>G
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1626C>G
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1633T>C
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1643A>G
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1648A>G
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1651G>T
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1663C>T
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1675A>G
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
- TMPO c.565+1713C>G Uncertain significance Multiple submitters
-
TMPO c.565+1724G>C
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
- TMPO c.565+1777G>C Uncertain significance Multiple submitters
-
TMPO c.565+1805A>C
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1819A>G
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1824C>G
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1872A>G
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1873T>C
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1917A>G
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1949C>G
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1987C>A
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+2002C>T
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+2026T>C
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
- TMPO c.565+2040C>G Uncertain significance Multiple submitters
-
TMPO c.565+2044G>T
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+2092C>A
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+2095A>C
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+2169A>G
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+2170C>T
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+2178G>A
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+2179C>T
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+2196A>G
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+2247C>G
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+2251C>T
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+2260C>T
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+2268A>T
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+2274A>G
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+2284A>G
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+2299A>G
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+2301A>G
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+2346A>G
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+2362T>C
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+2365G>A
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+2409T>G
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+2431C>G
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+2481A>G
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+2488G>A
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+2494A>G
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+999C>T
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO p.Ala29Thr
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO p.Ala83Val
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO p.Arg103Lys
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO p.Arg173Gly
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO p.Asn24His
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO p.Asn58Lys
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO p.Asp111His
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO p.Asp122Val
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO p.Gln39His
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO p.Gly128Arg
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO p.Ile134Leu
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO p.Ile134Phe
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO p.Leu124Phe
Uncertain significance
Multiple submitters
dilated cardiomyopathy
-
TMPO p.Pro51Leu
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO p.Pro52Ser
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO p.Pro62Leu
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO p.Ser166Tyr
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO p.Ser177Gly
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO p.Ser9Leu
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO p.Thr160Ile
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO p.Thr46Arg
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO p.Thr57Asn
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
- TMPO c.565+1000A>C Uncertain significance Single submitter
-
TMPO c.565+1000A>T
Uncertain significance
Single submitter
Loeys-Dietz syndrome 2
- TMPO c.565+1009T>G Uncertain significance Single submitter
- TMPO c.565+1014T>G Uncertain significance Single submitter
-
TMPO c.565+1018C>G
Uncertain significance
Single submitter
Loeys-Dietz syndrome 2
- TMPO c.565+1020A>G Uncertain significance Single submitter
- TMPO c.565+1029G>A Uncertain significance Single submitter
-
TMPO c.565+1033C>A
Uncertain significance
Single submitter
Loeys-Dietz syndrome 2
- TMPO c.565+1047G>C Uncertain significance Single submitter
-
TMPO c.565+1048G>A
Uncertain significance
Single submitter
Loeys-Dietz syndrome 2
- TMPO c.565+1050A>G Uncertain significance Single submitter
- TMPO c.565+1054C>G Uncertain significance Single submitter
- TMPO c.565+1063G>T Uncertain significance Single submitter
-
TMPO c.565+1078A>G
Uncertain significance
Single submitter
Loeys-Dietz syndrome 2
- TMPO c.565+1081G>C Uncertain significance Single submitter
-
TMPO c.565+1083A>G
Uncertain significance
Single submitter
Loeys-Dietz syndrome 2
- TMPO c.565+1095G>C Uncertain significance Single submitter
-
TMPO c.565+1108G>A
Uncertain significance
Single submitter
Loeys-Dietz syndrome 2
- TMPO c.565+1111C>T Uncertain significance Single submitter
- TMPO c.565+1113C>T Uncertain significance Single submitter
- TMPO c.565+1114C>A Uncertain significance Single submitter
-
TMPO c.565+1120G>C
Uncertain significance
Single submitter
Loeys-Dietz syndrome 2
- TMPO c.565+1132T>A Uncertain significance Single submitter
-
TMPO c.565+1153A>T
Uncertain significance
Single submitter
Loeys-Dietz syndrome 2
-
TMPO c.565+1161A>G
Uncertain significance
Single submitter
Loeys-Dietz syndrome 2
- TMPO c.565+1163G>C Uncertain significance Single submitter
- TMPO c.565+1165G>T Uncertain significance Single submitter
- TMPO c.565+1186T>C Uncertain significance Single submitter
- TMPO c.565+1188G>T Uncertain significance Single submitter
- TMPO c.565+1192C>G Uncertain significance Single submitter
- TMPO c.565+1197A>C Uncertain significance Single submitter
-
TMPO c.565+1231C>T
Uncertain significance
Single submitter
Loeys-Dietz syndrome 2
- TMPO c.565+1242A>G Uncertain significance Single submitter
- TMPO c.565+1252T>C Uncertain significance Single submitter
Predictors split 54
The independent predictors disagree with each other — read with care.
-
TMPO c.565+1005A>G
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1012A>C
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1701A>G
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+1705T>A
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+2019C>A
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+2029A>G
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+2340C>G
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+2347T>C
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO c.565+2381G>C
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
- TMPO c.565+996G>A Uncertain significance Multiple submitters
-
TMPO p.Glu70Asp
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO p.Lys97Glu
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO p.Pro131Arg
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO p.Ser180Phe
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO p.Thr96Ile
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO p.Thr99Ser
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO p.Tyr127Cys
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
-
TMPO p.Val129Gly
Uncertain significance
Multiple submitters
Loeys-Dietz syndrome 2
- TMPO c.565+1011A>G Uncertain significance Single submitter
-
TMPO c.565+1485A>G
Conflicting
Single submitter
Loeys-Dietz syndrome 2
-
TMPO c.565+1696C>T
Conflicting
Single submitter
arrhythmogenic right ventricular cardiomyopathy
-
TMPO c.565+1795C>A
Uncertain significance
Single submitter
Loeys-Dietz syndrome 2
-
TMPO c.565+1932G>A
Uncertain significance
Single submitter
Loeys-Dietz syndrome 2
- TMPO c.565+2136T>C Uncertain significance Single submitter
- TMPO c.565+2167C>T Uncertain significance Single submitter
- TMPO c.565+2181T>A Uncertain significance Single submitter
-
TMPO c.565+2182T>C
Conflicting
Single submitter
Loeys-Dietz syndrome 2
- TMPO c.565+2230T>G Uncertain significance Single submitter
- TMPO c.565+2311C>T Uncertain significance Single submitter
- TMPO c.565+2434C>G Uncertain significance Single submitter
-
TMPO c.565+2458G>C
Uncertain significance
Single submitter
Loeys-Dietz syndrome 2
-
TMPO c.565+2467T>A
Uncertain significance
Single submitter
Loeys-Dietz syndrome 2
-
TMPO c.565+995A>C
Uncertain significance
Single submitter
Loeys-Dietz syndrome 2
- TMPO p.Ala95Asp Benign Single submitter
-
TMPO p.Ala95Val
Uncertain significance
Single submitter
Loeys-Dietz syndrome 2
-
TMPO p.Arg103Thr
Uncertain significance
Single submitter
Loeys-Dietz syndrome 2
- TMPO p.Asn24Lys Uncertain significance Single submitter
- TMPO p.Asn49Lys Uncertain significance Single submitter
- TMPO p.Asp100Gly Uncertain significance Single submitter
- TMPO p.Asp111Glu Uncertain significance Single submitter
- TMPO p.Asp179Asn Uncertain significance Single submitter
- TMPO p.Asp179Glu Uncertain significance Single submitter
- TMPO p.Asp185Gly Uncertain significance Single submitter
- TMPO p.Asp64Asn Uncertain significance Single submitter
-
TMPO p.Gln32Lys
Uncertain significance
Single submitter
Loeys-Dietz syndrome 2
- TMPO p.Gln39Arg Uncertain significance Single submitter
- TMPO p.Lys94Asn Uncertain significance Single submitter
-
TMPO p.Pro131Ser
Uncertain significance
Single submitter
Loeys-Dietz syndrome 2
-
TMPO p.Pro2Leu
Uncertain significance
Single submitter
Loeys-Dietz syndrome 2
-
TMPO p.Ser159Phe
Uncertain significance
Single submitter
Loeys-Dietz syndrome 2
- TMPO p.Ser18Arg Uncertain significance Single submitter
-
TMPO p.Ser66Phe
Uncertain significance
Single submitter
Loeys-Dietz syndrome 2
- TMPO p.Ser66Tyr Uncertain significance Single submitter
- TMPO p.Thr96Ala Uncertain significance Single submitter
All TMPO variants
Conflicting classifications of pathogenicity 31
- c.565+1033C>T Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1186T>A Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1213G>A Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1287A>G Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1310G>C Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1390A>G Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1468A>G Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1485A>G Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1584G>A Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1617A>G Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1641A>G Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1662T>G Single submitter long QT syndrome ⚠
- c.565+1696C>T Single submitter arrhythmogenic right ventricular cardiomyopathy ⚠
- c.565+1782G>A Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1848G>A Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1899T>C Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1968G>A Single submitter hypertrophic cardiomyopathy ⚠
- c.565+2102C>G Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+2149C>T Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+2182T>C Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+2188C>T Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+2247C>T Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+2353A>G Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+2361G>T Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+2368G>A Single submitter Inborn genetic diseases
- c.565+2487C>T Single submitter Dilated cardiomyopathy 1T ⚠
- p.Ala55Val Single submitter Loeys-Dietz syndrome 2 ⚠
- p.Asn186Ser Single submitter Loeys-Dietz syndrome 2 ⚠
- p.Asp106Glu Single submitter Loeys-Dietz syndrome 2 ⚠
- p.Leu120Ile Single submitter Loeys-Dietz syndrome 2
- p.Val331= Single submitter arthrogryposis multiplex congenita
Benign 40
- c.1079+5dup Multiple submitters
- c.1080-128A>G Multiple submitters
- c.280-102A>G Multiple submitters
- c.280-131G>T Multiple submitters
- c.280-321C>T Multiple submitters
- c.280-90G>T Multiple submitters
- c.407-203T>C Multiple submitters
- c.407-96G>C Multiple submitters
- c.565+1132T>G Multiple submitters Loeys-Dietz syndrome 2
- c.565+1296T>G Multiple submitters Loeys-Dietz syndrome 2
- c.565+1344G>C Multiple submitters Loeys-Dietz syndrome 2
- c.565+1369C>G Multiple submitters Loeys-Dietz syndrome 2
- c.565+1665A>G Multiple submitters Dilated cardiomyopathy 1T
- c.565+1853G>C Multiple submitters Loeys-Dietz syndrome 2
- c.565+1890T>G Multiple submitters Loeys-Dietz syndrome 2
- c.565+2051T>A Multiple submitters Loeys-Dietz syndrome 2
- c.565+2214C>G Multiple submitters Loeys-Dietz syndrome 2
- c.565+249C>A Multiple submitters
- c.565+34G>T Multiple submitters
- c.663+178T>C Multiple submitters
- c.991-4T>C Multiple submitters
- c.-439C>T Multiple submitters
- p.Ala287Pro Multiple submitters
- c.280-286A>T Single submitter
- c.280-9T>C Single submitter Loeys-Dietz syndrome 2
- c.565+748T>C Single submitter
- c.565+816_565+817del Single submitter
- c.566-142T>C Single submitter
- c.566-289C>T Single submitter
- c.879+112_879+113dup Single submitter
- c.879+113del Single submitter
- c.879+113dup Single submitter
- c.990+281T>C Single submitter
- c.990+333G>A Single submitter
- c.990+72_990+73insG Single submitter
- c.990+84_990+86dup Single submitter
- c.990+86del Single submitter
- c.990+86dup Single submitter
- c.991-299C>A Single submitter
- p.Ala95Asp Single submitter ⚠
Benign/Likely benign 18
- c.280-8G>A Multiple submitters Dilated cardiomyopathy 1T
- c.565+1105C>T Multiple submitters Loeys-Dietz syndrome 2
- c.565+1240G>A Multiple submitters Loeys-Dietz syndrome 2
- c.565+1298G>A Multiple submitters Loeys-Dietz syndrome 2
- c.565+1304T>A Multiple submitters Loeys-Dietz syndrome 2
- c.565+1421A>G Multiple submitters Loeys-Dietz syndrome 2
- c.565+1469A>G Multiple submitters Loeys-Dietz syndrome 2
- c.565+1493A>G Multiple submitters Loeys-Dietz syndrome 2
- c.565+1728G>C Multiple submitters dilated cardiomyopathy
- c.565+2376C>T Multiple submitters long QT syndrome
- c.565+2387G>A Multiple submitters Loeys-Dietz syndrome 2
- c.-11A>C Multiple submitters
- c.*1A>G Multiple submitters
- p.Ala29= Multiple submitters Loeys-Dietz syndrome 2
- p.Asn178= Multiple submitters Inborn genetic diseases
- p.Gly132= Multiple submitters Loeys-Dietz syndrome 2
- p.Leu27= Multiple submitters Loeys-Dietz syndrome 2
- p.Leu5= Multiple submitters Loeys-Dietz syndrome 2
Likely benign 236
- c.280-188A>G Multiple submitters
- c.565+1103C>T Multiple submitters Loeys-Dietz syndrome 2
- c.565+1106C>A Multiple submitters Loeys-Dietz syndrome 2
- c.565+1127C>G Multiple submitters Loeys-Dietz syndrome 2
- c.565+1127C>T Multiple submitters Loeys-Dietz syndrome 2
- c.565+1220G>A Multiple submitters Loeys-Dietz syndrome 2
- c.565+1232C>T Multiple submitters Loeys-Dietz syndrome 2
- c.565+1277G>A Multiple submitters Loeys-Dietz syndrome 2
- c.565+1301A>G Multiple submitters Loeys-Dietz syndrome 2
- c.565+1325C>T Multiple submitters Loeys-Dietz syndrome 2
- c.565+1334C>T Multiple submitters Loeys-Dietz syndrome 2
- c.565+1346T>G Multiple submitters Loeys-Dietz syndrome 2
- c.565+1356C>T Multiple submitters
- c.565+1358G>T Multiple submitters Loeys-Dietz syndrome 2
- c.565+1409C>T Multiple submitters Loeys-Dietz syndrome 2
- c.565+1413A>G Multiple submitters Loeys-Dietz syndrome 2
- c.565+1472G>A Multiple submitters Loeys-Dietz syndrome 2
- c.565+1499A>G Multiple submitters Loeys-Dietz syndrome 2
- c.565+1559T>C Multiple submitters Loeys-Dietz syndrome 2
- c.565+1574G>A Multiple submitters Loeys-Dietz syndrome 2
- c.565+1616T>C Multiple submitters Loeys-Dietz syndrome 2
- c.565+1688G>T Multiple submitters Loeys-Dietz syndrome 2
- c.565+1739G>A Multiple submitters Loeys-Dietz syndrome 2
- c.565+1748T>A Multiple submitters Loeys-Dietz syndrome 2
- c.565+1750C>G Multiple submitters Loeys-Dietz syndrome 2
- c.565+1751C>T Multiple submitters Loeys-Dietz syndrome 2
- c.565+1781C>T Multiple submitters Loeys-Dietz syndrome 2
- c.565+1826C>T Multiple submitters Loeys-Dietz syndrome 2
- c.565+1907A>G Multiple submitters Loeys-Dietz syndrome 2
- c.565+1956C>T Multiple submitters Loeys-Dietz syndrome 2
- c.565+1958G>A Multiple submitters Loeys-Dietz syndrome 2
- c.565+1958G>T Multiple submitters Loeys-Dietz syndrome 2
- c.565+1979T>C Multiple submitters Loeys-Dietz syndrome 2
- c.565+1982A>C Multiple submitters Loeys-Dietz syndrome 2
- c.565+1988T>G Multiple submitters Loeys-Dietz syndrome 2
- c.565+1997G>A Multiple submitters Loeys-Dietz syndrome 2
- c.565+2081A>G Multiple submitters Loeys-Dietz syndrome 2
- c.565+2099T>C Multiple submitters Loeys-Dietz syndrome 2
- c.565+2135A>G Multiple submitters Loeys-Dietz syndrome 2
- c.565+2150A>G Multiple submitters Loeys-Dietz syndrome 2
- c.565+2156A>G Multiple submitters Loeys-Dietz syndrome 2
- c.565+2157T>C Multiple submitters Loeys-Dietz syndrome 2
- c.565+2180C>T Multiple submitters Loeys-Dietz syndrome 2
- c.565+2192G>A Multiple submitters Loeys-Dietz syndrome 2
- c.565+2210T>C Multiple submitters Loeys-Dietz syndrome 2
- c.565+2222A>G Multiple submitters
- c.565+2224A>G Multiple submitters Loeys-Dietz syndrome 2
- c.565+2261G>A Multiple submitters Loeys-Dietz syndrome 2
- c.565+2261G>C Multiple submitters Loeys-Dietz syndrome 2
- c.565+2261G>T Multiple submitters Loeys-Dietz syndrome 2
- c.565+2273G>A Multiple submitters Loeys-Dietz syndrome 2
- c.565+2297A>G Multiple submitters Loeys-Dietz syndrome 2
- c.565+2300T>C Multiple submitters Loeys-Dietz syndrome 2
- c.565+2339C>A Multiple submitters Loeys-Dietz syndrome 2
- c.565+2399T>A Multiple submitters Loeys-Dietz syndrome 2
- c.565+2426T>C Multiple submitters Loeys-Dietz syndrome 2
- c.565+2447A>T Multiple submitters
- c.565+2450A>G Multiple submitters
- c.565+939C>T Multiple submitters
- c.990+74T>G Multiple submitters
- c.*115A>C Multiple submitters
- c.*7T>C Multiple submitters
- p.Ala90= Multiple submitters Loeys-Dietz syndrome 2
- p.Arg157= Multiple submitters Loeys-Dietz syndrome 2
- p.Arg259= Multiple submitters
- p.Arg373= Multiple submitters
- p.Asn117Ser Multiple submitters Loeys-Dietz syndrome 2
- p.Asn24= Multiple submitters Loeys-Dietz syndrome 2
- p.Asp119Glu Multiple submitters Loeys-Dietz syndrome 2
- p.Asp185= Multiple submitters Loeys-Dietz syndrome 2
- p.Asp35= Multiple submitters Loeys-Dietz syndrome 2
- p.Gln432= Multiple submitters
- p.Glu218= Multiple submitters
- p.Glu31= Multiple submitters Loeys-Dietz syndrome 2
- p.Gly61= Multiple submitters Loeys-Dietz syndrome 2
- p.Leu110= Multiple submitters Loeys-Dietz syndrome 2
- p.Leu146= Multiple submitters Loeys-Dietz syndrome 2
- p.Leu42= Multiple submitters Loeys-Dietz syndrome 2
- p.Lys17= Multiple submitters Loeys-Dietz syndrome 2
- p.Pro102= Multiple submitters Loeys-Dietz syndrome 2
- p.Pro133= Multiple submitters Loeys-Dietz syndrome 2
- p.Pro28= Multiple submitters Loeys-Dietz syndrome 2
- p.Pro51= Multiple submitters Loeys-Dietz syndrome 2
- p.Pro63= Multiple submitters Loeys-Dietz syndrome 2
- p.Thr12= Multiple submitters Loeys-Dietz syndrome 2
- p.Tyr127= Multiple submitters Loeys-Dietz syndrome 2
- p.Tyr37= Multiple submitters Loeys-Dietz syndrome 2
- p.Val36= Multiple submitters Loeys-Dietz syndrome 2
- p.Leu42= Single submitter Loeys-Dietz syndrome 2
- c.1079+12C>A Single submitter
- c.280-13A>G Single submitter Loeys-Dietz syndrome 2
- c.280-13A>T Single submitter Loeys-Dietz syndrome 2
- c.280-18A>G Single submitter Loeys-Dietz syndrome 2
- c.280-4A>G Single submitter Loeys-Dietz syndrome 2
- c.406+296G>C Single submitter
- c.406+304G>A Single submitter
- c.406+9A>G Single submitter Loeys-Dietz syndrome 2
- c.407-14C>A Single submitter Loeys-Dietz syndrome 2
- c.407-17G>C Single submitter Loeys-Dietz syndrome 2
- c.407-219C>T Single submitter
- c.407-4C>T Single submitter Loeys-Dietz syndrome 2
- c.565+1001C>T Single submitter
- c.565+1004G>A Single submitter
- c.565+1007A>G Single submitter Loeys-Dietz syndrome 2
- c.565+1019T>C Single submitter Loeys-Dietz syndrome 2
- c.565+1049A>G Single submitter
- c.565+1052T>A Single submitter Loeys-Dietz syndrome 2
- c.565+1052T>C Single submitter
- c.565+1056C>G Single submitter
- c.565+107A>T Single submitter
- c.565+1106C>G Single submitter
- c.565+1116T>C Single submitter
- c.565+1130A>G Single submitter
- c.565+1154T>C Single submitter Loeys-Dietz syndrome 2
- c.565+1184T>C Single submitter Loeys-Dietz syndrome 2
- c.565+1199C>T Single submitter Loeys-Dietz syndrome 2
- c.565+1319C>T Single submitter Loeys-Dietz syndrome 2
- c.565+1376T>C Single submitter
- c.565+1376T>G Single submitter
- c.565+1382C>T Single submitter Loeys-Dietz syndrome 2
- c.565+1427A>T Single submitter
- c.565+1436A>G Single submitter
- c.565+1448G>A Single submitter Loeys-Dietz syndrome 2
- c.565+1457T>C Single submitter
- c.565+1496A>G Single submitter
- c.565+1502A>G Single submitter
- c.565+1517A>T Single submitter
- c.565+1520A>G Single submitter
- c.565+1521C>G Single submitter
- c.565+1523A>C Single submitter
- c.565+1532G>A Single submitter Loeys-Dietz syndrome 2
- c.565+1532G>T Single submitter Loeys-Dietz syndrome 2
- c.565+1562C>G Single submitter
- c.565+1569C>T Single submitter
- c.565+1577C>T Single submitter
- c.565+15G>T Single submitter Loeys-Dietz syndrome 2
- c.565+1613C>T Single submitter Loeys-Dietz syndrome 2
- c.565+1622C>T Single submitter
- c.565+1637A>G Single submitter Loeys-Dietz syndrome 2
- c.565+1661G>A Single submitter
- c.565+1709T>C Single submitter Loeys-Dietz syndrome 2
- c.565+1727A>C Single submitter
- c.565+1781C>A Single submitter
- c.565+1781C>G Single submitter
- c.565+1808T>C Single submitter Loeys-Dietz syndrome 2
- c.565+1814C>G Single submitter Loeys-Dietz syndrome 2
- c.565+1817T>C Single submitter Loeys-Dietz syndrome 2
- c.565+1847G>C Single submitter
- c.565+1853G>A Single submitter
- c.565+1856A>G Single submitter
- c.565+1880C>A Single submitter Loeys-Dietz syndrome 2
- c.565+1901C>T Single submitter
- c.565+1943A>G Single submitter Loeys-Dietz syndrome 2
- c.565+1964A>C Single submitter Loeys-Dietz syndrome 2
- c.565+19T>C Single submitter Loeys-Dietz syndrome 2
- c.565+2015A>G Single submitter
- c.565+2033T>C Single submitter
- c.565+2039C>A Single submitter Loeys-Dietz syndrome 2
- c.565+2040C>T Single submitter
- c.565+2042A>C Single submitter
- c.565+2051T>C Single submitter
- c.565+2066A>G Single submitter
- c.565+2067C>T Single submitter
- c.565+2069A>G Single submitter Loeys-Dietz syndrome 2
- c.565+2087C>T Single submitter
- c.565+2093T>C Single submitter
- c.565+2114G>A Single submitter
- c.565+2219T>G Single submitter Loeys-Dietz syndrome 2
- c.565+2222A>C Single submitter Loeys-Dietz syndrome 2
- c.565+2228T>C Single submitter
- c.565+2231T>C Single submitter
- c.565+2271C>T Single submitter Loeys-Dietz syndrome 2
- c.565+2276C>T Single submitter Loeys-Dietz syndrome 2
- c.565+2315A>G Single submitter Loeys-Dietz syndrome 2
- c.565+2324A>G Single submitter Loeys-Dietz syndrome 2
- c.565+2339C>G Single submitter Loeys-Dietz syndrome 2
- c.565+2354T>C Single submitter
- c.565+2357C>T Single submitter Loeys-Dietz syndrome 2
- c.565+2363A>G Single submitter
- c.565+2378C>T Single submitter
- c.565+2384G>A Single submitter
- c.565+2402T>C Single submitter Loeys-Dietz syndrome 2
- c.565+2421C>T Single submitter Loeys-Dietz syndrome 2
- c.565+2453A>G Single submitter
- c.565+2468A>G Single submitter
- c.565+2474A>G Single submitter
- c.565+2504G>A Single submitter Loeys-Dietz syndrome 2
- c.565+2661A>T Single submitter
- c.565+2744C>G Single submitter
- c.565+8T>C Single submitter Loeys-Dietz syndrome 2
- c.565+981A>G Single submitter Loeys-Dietz syndrome 2
- c.565+99A>C Single submitter
- c.565+9T>G Single submitter Loeys-Dietz syndrome 2
- c.663+13T>G Single submitter
- c.879+191T>A Single submitter
- c.990+166G>C Single submitter
- c.990+66_990+67dup Single submitter
- c.990+67dup Single submitter
- c.991-12_991-11del Single submitter
- c.991-13T>C Single submitter
- c.*105C>T Single submitter
- p.Ala22= Single submitter Loeys-Dietz syndrome 2
- p.Ala47= Single submitter
- p.Arg103= Single submitter
- p.Arg173= Single submitter Loeys-Dietz syndrome 2
- p.Arg48= Single submitter
- p.Arg50= Single submitter Loeys-Dietz syndrome 2
- p.Asn117= Single submitter Loeys-Dietz syndrome 2
- p.Asp64= Single submitter
- p.Glu143= Single submitter Loeys-Dietz syndrome 2
- p.Glu69= Single submitter
- p.Gly176= Single submitter Loeys-Dietz syndrome 2
- p.Gly227= Single submitter
- p.His44= Single submitter
- p.Leu11= Single submitter
- p.Leu121= Single submitter
- p.Leu141= Single submitter
- p.Leu147= Single submitter Loeys-Dietz syndrome 2
- p.Leu149= Single submitter
- p.Leu16= Single submitter Loeys-Dietz syndrome 2
- p.Leu40= Single submitter
- p.Phe4= Single submitter
- p.Pro163= Single submitter
- p.Pro54Ala Single submitter
- p.Pro62= Single submitter Loeys-Dietz syndrome 2
- p.Pro8= Single submitter Cardiovascular phenotype
- p.Ser180= Single submitter
- p.Ser66= Single submitter
- p.Ser67= Single submitter
- p.Ser9= Single submitter Loeys-Dietz syndrome 2
- p.Thr154= Single submitter Loeys-Dietz syndrome 2
- p.Thr57Ala Single submitter
- p.Tyr394= Single submitter
- p.Val10= Single submitter Loeys-Dietz syndrome 2
- p.Val21= Single submitter Loeys-Dietz syndrome 2
- p.Val38= Single submitter Loeys-Dietz syndrome 2
Uncertain significance 505
Showing the top 300 by review status; the full set is in the sitemap.
- c.565+1005A>G Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1009T>C Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1012A>C Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1017A>G Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1026A>G Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1029G>T Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1048G>C Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1053A>G Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1069G>A Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1084T>A Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1104A>C Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1107C>T Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1114C>T Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1128G>A Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1137G>A Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1155A>G Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1165G>C Multiple submitters dilated cardiomyopathy ⚠
- c.565+1168A>T Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1169C>G Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1183C>T Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1197A>G Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1246T>C Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1275A>G Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1278T>C Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1297C>T Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1302T>C Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1305T>G Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1317C>T Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1318A>G Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1328G>T Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1361T>G Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1372C>T Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1384A>G Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1392A>G Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1410G>A Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1420A>G Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1449A>G Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1452T>C Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1471C>T Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1474C>T Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1488dup Multiple submitters Loeys-Dietz syndrome 2
- c.565+1531C>T Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1536_565+1543del Multiple submitters Loeys-Dietz syndrome 2
- c.565+1540C>T Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1548A>G Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1567C>T Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1576T>C Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1584G>T Multiple submitters Loeys-Dietz syndrome 2
- c.565+1587G>A Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1597T>C Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1609C>G Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1611A>C Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1623C>G Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1626C>G Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1633T>C Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1643A>G Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1648A>G Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1651G>T Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1663C>T Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1664dup Multiple submitters Loeys-Dietz syndrome 2
- c.565+1675A>G Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1701A>G Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1705T>A Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1713C>G Multiple submitters ⚠
- c.565+1724G>C Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1777G>C Multiple submitters ⚠
- c.565+1805A>C Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1819A>G Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1824C>G Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1872A>G Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1873T>C Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1917A>G Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1928del Multiple submitters Loeys-Dietz syndrome 2
- c.565+1949C>G Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+1983del Multiple submitters Loeys-Dietz syndrome 2
- c.565+1987C>A Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+2002C>T Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+2019C>A Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+2026T>C Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+2029A>G Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+2040C>G Multiple submitters ⚠
- c.565+2044G>T Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+2092C>A Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+2095A>C Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+2137A>G Multiple submitters Loeys-Dietz syndrome 2
- c.565+2169A>G Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+2170C>T Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+2178G>A Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+2179C>T Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+2196A>G Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+2247C>G Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+2251C>T Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+2260C>T Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+2268A>T Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+2274A>G Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+2284A>G Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+2299A>G Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+2301A>G Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+2304del Multiple submitters Loeys-Dietz syndrome 2
- c.565+2340C>G Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+2346A>G Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+2347T>C Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+2362T>C Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+2365G>A Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+2367C>T Multiple submitters Loeys-Dietz syndrome 2
- c.565+2369_565+2371del Multiple submitters Loeys-Dietz syndrome 2
- c.565+2381G>C Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+2409T>G Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+2431C>G Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+2461_565+2463del Multiple submitters Loeys-Dietz syndrome 2
- c.565+2481A>G Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+2488G>A Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+2494A>G Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.565+996G>A Multiple submitters ⚠
- c.565+999C>T Multiple submitters Loeys-Dietz syndrome 2 ⚠
- p.Ala29Thr Multiple submitters Loeys-Dietz syndrome 2 ⚠
- p.Ala83Val Multiple submitters Loeys-Dietz syndrome 2 ⚠
- p.Arg103Lys Multiple submitters Loeys-Dietz syndrome 2 ⚠
- p.Arg173Gly Multiple submitters Loeys-Dietz syndrome 2 ⚠
- p.Arg269His Multiple submitters
- p.Asn24His Multiple submitters Loeys-Dietz syndrome 2 ⚠
- p.Asn296Ser Multiple submitters
- p.Asn58Lys Multiple submitters Loeys-Dietz syndrome 2 ⚠
- p.Asp111His Multiple submitters Loeys-Dietz syndrome 2 ⚠
- p.Asp122Val Multiple submitters Loeys-Dietz syndrome 2 ⚠
- p.Gln39His Multiple submitters Loeys-Dietz syndrome 2 ⚠
- p.Gln43Arg Multiple submitters Loeys-Dietz syndrome 2
- p.Glu70Asp Multiple submitters Loeys-Dietz syndrome 2 ⚠
- p.Gly128Arg Multiple submitters Loeys-Dietz syndrome 2 ⚠
- p.Ile134Leu Multiple submitters Loeys-Dietz syndrome 2 ⚠
- p.Ile134Phe Multiple submitters Loeys-Dietz syndrome 2 ⚠
- p.Leu124Phe Multiple submitters dilated cardiomyopathy ⚠
- p.Lys97Glu Multiple submitters Loeys-Dietz syndrome 2 ⚠
- p.Pro131Arg Multiple submitters Loeys-Dietz syndrome 2 ⚠
- p.Pro51Leu Multiple submitters Loeys-Dietz syndrome 2 ⚠
- p.Pro52Ser Multiple submitters Loeys-Dietz syndrome 2 ⚠
- p.Pro62Leu Multiple submitters Loeys-Dietz syndrome 2 ⚠
- p.Ser166Tyr Multiple submitters Loeys-Dietz syndrome 2 ⚠
- p.Ser177Gly Multiple submitters Loeys-Dietz syndrome 2 ⚠
- p.Ser180Phe Multiple submitters Loeys-Dietz syndrome 2 ⚠
- p.Ser9Leu Multiple submitters Loeys-Dietz syndrome 2 ⚠
- p.Thr160Ile Multiple submitters Loeys-Dietz syndrome 2 ⚠
- p.Thr46Arg Multiple submitters Loeys-Dietz syndrome 2 ⚠
- p.Thr57Asn Multiple submitters Loeys-Dietz syndrome 2 ⚠
- p.Thr96Ile Multiple submitters Loeys-Dietz syndrome 2 ⚠
- p.Thr99Ser Multiple submitters Loeys-Dietz syndrome 2 ⚠
- p.Tyr127Cys Multiple submitters Loeys-Dietz syndrome 2 ⚠
- p.Val129Gly Multiple submitters Loeys-Dietz syndrome 2 ⚠
- c.1080-4A>G Single submitter
- c.280-11T>G Single submitter Loeys-Dietz syndrome 2
- c.280-3C>T Single submitter
- c.565+1000A>C Single submitter ⚠
- c.565+1000A>T Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1009T>G Single submitter ⚠
- c.565+1011A>G Single submitter ⚠
- c.565+1014T>G Single submitter ⚠
- c.565+1018C>G Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1020A>G Single submitter ⚠
- c.565+1029G>A Single submitter ⚠
- c.565+1033C>A Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1047G>C Single submitter ⚠
- c.565+1048G>A Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1050A>G Single submitter ⚠
- c.565+1054C>G Single submitter ⚠
- c.565+1062_565+1063delinsTT Single submitter Loeys-Dietz syndrome 2
- c.565+1063G>T Single submitter ⚠
- c.565+1078A>G Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1081G>C Single submitter ⚠
- c.565+1083A>G Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1095G>C Single submitter ⚠
- c.565+1108G>A Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1111C>T Single submitter ⚠
- c.565+1113C>T Single submitter ⚠
- c.565+1114C>A Single submitter ⚠
- c.565+1120G>C Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1128G>T Single submitter Loeys-Dietz syndrome 2
- c.565+1132T>A Single submitter ⚠
- c.565+1153A>T Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1161A>G Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1163G>C Single submitter ⚠
- c.565+1165G>T Single submitter ⚠
- c.565+1179G>T Single submitter Loeys-Dietz syndrome 2
- c.565+1186T>C Single submitter ⚠
- c.565+1188G>T Single submitter ⚠
- c.565+1192C>G Single submitter ⚠
- c.565+1197A>C Single submitter ⚠
- c.565+1231C>T Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1242A>G Single submitter ⚠
- c.565+1252T>C Single submitter ⚠
- c.565+1257T>C Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1259C>G Single submitter ⚠
- c.565+1260A>C Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1264C>A Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1270A>G Single submitter ⚠
- c.565+1272del Single submitter Loeys-Dietz syndrome 2
- c.565+1273A>G Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1279G>A Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1282T>C Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1311C>A Single submitter ⚠
- c.565+1312C>G Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1320A>C Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1320A>G Single submitter ⚠
- c.565+1326A>G Single submitter ⚠
- c.565+1327T>C Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1330T>G Single submitter ⚠
- c.565+1348C>T Single submitter ⚠
- c.565+1350_565+1352del Single submitter Loeys-Dietz syndrome 2
- c.565+1356C>A Single submitter ⚠
- c.565+1362_565+1363insTCA Single submitter Loeys-Dietz syndrome 2
- c.565+1368A>G Single submitter ⚠
- c.565+1374A>C Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1378G>A Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1383T>C Single submitter ⚠
- c.565+1396T>C Single submitter Cardiovascular phenotype ⚠
- c.565+1404A>G Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1406T>G Single submitter ⚠
- c.565+1408G>T Single submitter ⚠
- c.565+1411G>A Single submitter ⚠
- c.565+1414G>A Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1423G>A Single submitter ⚠
- c.565+1432A>G Single submitter ⚠
- c.565+1435C>T Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1439A>C Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1456A>G Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1467C>G Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1467C>T Single submitter Loeys-Dietz syndrome 2
- c.565+1471C>A Single submitter Loeys-Dietz syndrome 2
- c.565+1474CT[2] Single submitter Loeys-Dietz syndrome 2
- c.565+1479T>C Single submitter ⚠
- c.565+1480C>G Single submitter ⚠
- c.565+1494G>A Single submitter ⚠
- c.565+1508_565+1509del Single submitter Loeys-Dietz syndrome 2
- c.565+1509G>C Single submitter ⚠
- c.565+1510A>T Single submitter ⚠
- c.565+1555A>G Single submitter ⚠
- c.565+1575G>A Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1582G>A Single submitter ⚠
- c.565+1584G>C Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1590G>A Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1591G>A Single submitter ⚠
- c.565+1595T>G Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1598G>T Single submitter ⚠
- c.565+1602G>A Single submitter ⚠
- c.565+1603G>A Single submitter ⚠
- c.565+1606C>T Single submitter ⚠
- c.565+1615_565+1616del Single submitter Loeys-Dietz syndrome 2
- c.565+1615C>T Single submitter ⚠
- c.565+1620C>T Single submitter ⚠
- c.565+1621C>T Single submitter ⚠
- c.565+1629G>A Single submitter ⚠
- c.565+1639A>G Single submitter ⚠
- c.565+1642T>C Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1647A>G Single submitter ⚠
- c.565+1653A>G Single submitter ⚠
- c.565+1654T>C Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1663C>A Single submitter ⚠
- c.565+1671C>G Single submitter ⚠
- c.565+1678C>T Single submitter ⚠
- c.565+1683T>C Single submitter ⚠
- c.565+1689T>C Single submitter ⚠
- c.565+1692C>A Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1692C>T Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1694_565+1696del Single submitter Loeys-Dietz syndrome 2
- c.565+1699G>T Single submitter ⚠
- c.565+1708C>T Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1717G>C Single submitter ⚠
- c.565+1718_565+1721del Single submitter Loeys-Dietz syndrome 2
- c.565+1718T>A Single submitter ⚠
- c.565+1725T>A Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1728G>T Single submitter ⚠
- c.565+1729T>G Single submitter ⚠
- c.565+1774C>G Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1774C>T Single submitter ⚠
- c.565+1790G>A Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1795C>A Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1798T>C Single submitter ⚠
- c.565+1807C>G Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1809G>A Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1810T>C Single submitter ⚠
- c.565+1812_565+1814del Single submitter
- c.565+1813TC[2] Single submitter Loeys-Dietz syndrome 2
- c.565+1828C>G Single submitter ⚠
- c.565+1829dup Single submitter Loeys-Dietz syndrome 2
- c.565+1836G>C Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1855A>C Single submitter ⚠
- c.565+1867A>T Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1878G>A Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1905G>T Single submitter Loeys-Dietz syndrome 2
- c.565+1908T>C Single submitter ⚠
- c.565+1911A>G Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1916A>T Single submitter ⚠
- c.565+1924T>C Single submitter ⚠
- c.565+1932G>A Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1935T>C Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1943A>C Single submitter ⚠
- c.565+1954A>G Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+1957del Single submitter Dilated cardiomyopathy 1T
- c.565+1995G>A Single submitter Loeys-Dietz syndrome 2 ⚠
- c.565+2007A>G Single submitter ⚠
- c.565+2013T>C Single submitter ⚠