Full data view for gene TNNI3

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_000363.4 transcript reference sequence.

542 entries on 6 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.-4706C>A r.(?) p.(=) Unknown - VUS g.55673663G>T g.55162295G>T DNAAF3(NM_001256715.2):c.323-5C>A - DNAAF3_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4705del r.(?) p.(=) Unknown - likely benign g.55673662del g.55162294del DNAAF3(NM_001256714.1):c.527-4delG (p.?) - DNAAF3_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4697A>G r.(?) p.(=) Unknown - benign g.55673654T>C g.55162286T>C DNAAF3(NM_001256714.1):c.531A>G (p.R177=), DNAAF3(NM_001256715.2):c.327A>G (p.(Arg109=)) - DNAAF3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4697A>G r.(?) p.(=) Unknown - likely benign g.55673654T>C - DNAAF3(NM_001256714.1):c.531A>G (p.R177=), DNAAF3(NM_001256715.2):c.327A>G (p.(Arg109=)) - DNAAF3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4207A>G r.(?) p.(=) Unknown - benign g.55673164T>C g.55161796T>C DNAAF3(NM_001256714.1):c.714A>G (p.V238=) - DNAAF3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4174_-4173dup r.(?) p.(=) Unknown - VUS g.55673132_55673133dup - DNAAF3(NM_001256715.2):c.543_544dup (p.(Gln182Profs*6)) - DNAAF3_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-3827T>C r.(?) p.(=) Unknown - benign g.55672784A>G g.55161416A>G DNAAF3(NM_001256714.1):c.870T>C (p.A290=), DNAAF3(NM_001256716.2):c.504T>C (p.A168=) - DNAAF3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-3827T>C r.(?) p.(=) Unknown - benign g.55672784A>G g.55161416A>G DNAAF3(NM_001256714.1):c.870T>C (p.A290=), DNAAF3(NM_001256716.2):c.504T>C (p.A168=) - DNAAF3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-3612C>T r.(?) p.(=) Unknown - benign g.55672569G>A g.55161201G>A DNAAF3(NM_001256714.1):c.994-14C>T, DNAAF3(NM_001256716.2):c.628-14C>T - DNAAF3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-3612C>T r.(?) p.(=) Unknown - benign g.55672569G>A g.55161201G>A DNAAF3(NM_001256714.1):c.994-14C>T, DNAAF3(NM_001256716.2):c.628-14C>T - DNAAF3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3557C>T r.(?) p.(=) Unknown - likely benign g.55672514G>A g.55161146G>A DNAAF3(NM_001256714.1):c.1035C>T (p.I345=) - DNAAF3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3556G>A r.(?) p.(=) Unknown - likely benign g.55672513C>T g.55161145C>T DNAAF3(NM_001256714.1):c.1036G>A (p.A346T, p.(Ala278Thr)) - DNAAF3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3556G>A r.(?) p.(=) Unknown - likely benign g.55672513C>T - DNAAF3(NM_001256714.1):c.1036G>A (p.A346T, p.(Ala278Thr)) - DNAAF3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3556G>A r.(?) p.(=) Unknown - likely benign g.55672513C>T - DNAAF3(NM_001256714.1):c.1036G>A (p.A346T, p.(Ala278Thr)) - DNAAF3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3537C>A r.(?) p.(=) Unknown - VUS g.55672494G>T - - - DNAAF3_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3535T>G r.(?) p.(=) Unknown - VUS g.55672492A>C - DNAAF3(NM_001256714.1):c.1057T>G (p.F353V) - DNAAF3_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-3513A>G r.(?) p.(=) Unknown - benign g.55672470T>C g.55161102T>C DNAAF3(NM_001256714.1):c.1079A>G (p.E360G), DNAAF3(NM_001256716.2):c.713A>G (p.E238G) - DNAAF3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-3513A>G r.(?) p.(=) Unknown - benign g.55672470T>C g.55161102T>C DNAAF3(NM_001256714.1):c.1079A>G (p.E360G), DNAAF3(NM_001256716.2):c.713A>G (p.E238G) - DNAAF3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3498C>T r.(?) p.(=) Unknown - VUS g.55672455G>A - DNAAF3(NM_001256715.2):c.890C>T (p.(Thr297Met)) - DNAAF3_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3194A>G r.(?) p.(=) Unknown - likely benign g.55672151T>C - DNAAF3(NM_001256714.1):c.1117-8A>G (p.(=)) - DNAAF3_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3172C>T r.(?) p.(=) Unknown - likely benign g.55672129G>A g.55160761G>A DNAAF3(NM_001256714.1):c.1131C>T (p.I377=) - DNAAF3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3160C>A r.(?) p.(=) Unknown - VUS g.55672117G>T - DNAAF3(NM_001256714.1):c.1143C>A (p.N381K) - DNAAF3_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3139C>G r.(?) p.(=) Unknown - VUS g.55672096G>C - DNAAF3(NM_001256715.2):c.960C>G (p.(Asp320Glu)) - DNAAF3_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3102G>A r.(?) p.(=) Unknown - likely benign g.55672059C>T - DNAAF3(NM_001256715.2):c.997G>A (p.(Asp333Asn)) - DNAAF3_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3098T>C r.(?) p.(=) Unknown - likely benign g.55672055A>G g.55160687A>G DNAAF3(NM_001256714.1):c.1205T>C (p.L402P) - DNAAF3_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-2417G>A r.(?) p.(=) Unknown - benign g.55671374C>T g.55160006C>T DNAAF3(NM_001256714.1):c.1257G>A (p.P419=), DNAAF3(NM_001256716.2):c.894G>A (p.P298=) - DNAAF3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-2417G>A r.(?) p.(=) Unknown - benign g.55671374C>T g.55160006C>T DNAAF3(NM_001256714.1):c.1257G>A (p.P419=), DNAAF3(NM_001256716.2):c.894G>A (p.P298=) - DNAAF3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-2380G>A r.(?) p.(=) Unknown - benign g.55671337C>T g.55159969= DNAAF3(NM_001256714.1):c.1294G>A (p.D432N), DNAAF3(NM_001256716.2):c.931G>A (p.D311N) - DNAAF3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-2380G>A r.(?) p.(=) Unknown - benign g.55671337C>T g.55159969= DNAAF3(NM_001256714.1):c.1294G>A (p.D432N), DNAAF3(NM_001256716.2):c.931G>A (p.D311N) - DNAAF3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2300G>T r.(?) p.(=) Unknown - VUS g.55671257C>A g.55159889C>A DNAAF3(NM_001256714.1):c.1364+10G>T, DNAAF3(NM_001256715.2):c.1163+10G>T - DNAAF3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2300G>T r.(?) p.(=) Unknown - likely benign g.55671257C>A - DNAAF3(NM_001256714.1):c.1364+10G>T, DNAAF3(NM_001256715.2):c.1163+10G>T - DNAAF3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-2134del r.(?) p.(=) Unknown - benign g.55671094del g.55159726del DNAAF3(NM_001256716.2):c.1002-116delC - DNAAF3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-2032C>T r.(?) p.(=) Unknown - benign g.55670989G>A g.55159621G>A DNAAF3(NM_001256714.1):c.1365-14C>T - DNAAF3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-1868A>G r.(?) p.(=) Unknown - benign g.55670825T>C g.55159457T>C DNAAF3(NM_001256714.1):c.1440-8A>G, DNAAF3(NM_001256716.2):c.1077-8A>G - DNAAF3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-1868A>G r.(?) p.(=) Unknown - benign g.55670825T>C g.55159457T>C DNAAF3(NM_001256714.1):c.1440-8A>G, DNAAF3(NM_001256716.2):c.1077-8A>G - DNAAF3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-1828dup r.(?) p.(=) Unknown - likely pathogenic g.55670785dup g.55159417dup DNAAF3(NM_001256716.2):c.1109dupA (p.F372Ifs*52) - DNAAF3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-1828dup r.(?) p.(=) Unknown - pathogenic g.55670785dup g.55159417dup DNAAF3(NM_001256716.2):c.1109dupA (p.F372Ifs*52) - DNAAF3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1815C>T r.(?) p.(=) Unknown - likely benign g.55670772G>A - DNAAF3(NM_001256716.1):c.1122C>T (p.T374=) - DNAAF3_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-1805G>C r.(?) p.(=) Unknown - VUS g.55670762C>G - DNAAF3(NM_001256714.1):c.1495G>C (p.E499Q) - DNAAF3_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-1745G>C r.(?) p.(=) Unknown - VUS g.55670702C>G g.55159334C>G DNAAF3(NM_001256716.1):c.1192G>C (p.A398P) - DNAAF3_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1710C>A r.(?) p.(=) Unknown - likely benign g.55670667G>T - DNAAF3(NM_001256716.1):c.1227C>A (p.G409=) - DNAAF3_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1694G>A r.(?) p.(=) Unknown - likely benign g.55670651C>T g.55159283C>T DNAAF3(NM_001256714.1):c.1606G>A (p.V536M), DNAAF3(NM_001256715.2):c.1405G>A (p.(Val469Met)) - DNAAF3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1694G>A r.(?) p.(=) Unknown - likely benign g.55670651C>T g.55159283C>T DNAAF3(NM_001256714.1):c.1606G>A (p.V536M), DNAAF3(NM_001256715.2):c.1405G>A (p.(Val469Met)) - DNAAF3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1685G>A r.(?) p.(=) Unknown - likely benign g.55670642C>T g.55159274C>T - - DNAAF3_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1556G>A r.(?) p.(=) Unknown - likely benign g.55670513C>T g.55159145C>T DNAAF3(NM_001256716.1):c.1381G>A (p.G461S) - DNAAF3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1510C>T r.(?) p.(=) Unknown - likely benign g.55670467G>A - DNAAF3(NM_001256714.1):c.1790C>T (p.(Pro597Leu)) - DNAAF3_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-182del r.(?) p.(=) Unknown - likely benign g.55669140del g.55157772del - - DNAAF3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-116C>T r.(?) p.(=) Unknown - likely benign g.55669073G>A g.55157705G>A - - DNAAF3_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-98C>A r.(?) p.(=) Unknown - benign g.55669055G>T g.55157687G>T - - DNAAF3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.-47C>T r.(=) p.(=) Unknown - benign g.55669004G>A g.55157636G>A 5'UTR-47C>T - TNNI3_000038 - PubMed: Erdmann 2003 - - Germline no - - - - DNA PCR, SEQ, SSCA - - CMH - PubMed: Erdmann 2003 - - - Germany - - - - - 1 Peikuan Cong
-/. - c.-47C>T r.(?) p.(=) Unknown - benign g.55669004G>A g.55157636G>A - - TNNI3_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.-35C>A r.(?) p.(=) Unknown - benign g.55668992G>T g.55157624G>T 5'UTR-35 1215C>A - TNNI3_000036 - PubMed: Erdmann 2003 - - Germline no - - - - DNA PCR, SEQ, SSCA - - CMH - PubMed: Erdmann 2003 - - - Germany - - - - - 1 Peikuan Cong
-/. - c.-35C>A r.(?) p.(=) Unknown - benign g.55668992G>T g.55157624G>T - - TNNI3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1A>G r.(?) p.(Met1?) Unknown - likely pathogenic g.55668957T>C g.55157589T>C TNNI3(NM_000363.4):c.1A>G (p.M1?), TNNI3(NM_000363.5):c.1A>G (p.M1?) - DNAAF3_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1A>G r.(?) p.(Met1?) Unknown - likely pathogenic g.55668957T>C - TNNI3(NM_000363.4):c.1A>G (p.M1?), TNNI3(NM_000363.5):c.1A>G (p.M1?) - DNAAF3_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.5C>T r.(?) p.(Ala2Val) Unknown - NA g.55668953G>A g.55157585G>A 4C>T - TNNI3_000039 - {PMID15070570:Murphy 2004} - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.5C>T r.(?) p.(Ala2Val) Parent #1 - pathogenic g.55668953G>A g.55157585G>A 4C>T - TNNI3_000039 - PubMed: Murphy 2004, OMIM:var0009 - - Germline ? - - - - DNA SEQ - - CMD - PubMed: Murphy 2004, OMIM:var0009 2-generation family, affected brother/sister - - United Kingdom (Great Britain) - - - - - 2 Peikuan Cong
+/. 1 c.5C>T r.(?) p.(Ala2Val) Parent #2 - pathogenic g.55668953G>A g.55157585G>A 4C>T - TNNI3_000039 - PubMed: Murphy 2004, OMIM:var0009 - - Germline ? - - - - DNA SEQ - - CMD - PubMed: Murphy 2004, OMIM:var0009 2-generation family, affected brother/sister - - United Kingdom (Great Britain) - - - - - 2 Peikuan Cong
+/. 1 c.5C>T r.(?) p.(Ala2Val) Parent #1 - pathogenic g.55668953G>A g.55157585G>A 4C>T - TNNI3_000039 - PubMed: Murphy 2004, OMIM:var0009 - - Germline ? - - - - DNA SEQ - - Healthy/Control - PubMed: Murphy 2004, OMIM:var0009 2-generation family, unaffected carriers - - United Kingdom (Great Britain) - - - - - 3 Johan den Dunnen
-/. - c.11+128T>C r.(=) p.(=) Unknown - benign g.55668819A>G g.55157451A>G TNNI3(NM_000363.4):c.11+128T>C - TNNI3_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.12-127A>G r.(=) p.(=) Unknown - benign g.55668803T>C g.55157435T>C - - DNAAF3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.12-50_12-47dup r.(=) p.(=) Unknown - benign g.55668725_55668728dup g.55157357_55157360dup TNNI3(NM_000363.4):c.12-50_12-47dupACAG - DNAAF3_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.12-46_12-43dup r.(=) p.(=) Unknown - benign g.55668719_55668722dup g.55157351_55157354dup - - TNNI3_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.12-28_12-27delinsT r.(=) p.(=) Unknown - benign g.55668703_55668704delinsA g.55157335_55157336delinsA TNNI3(NM_000363.4):c.12-28_12-27delCCinsT - TNNI3_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.12-7del r.(=) p.(=) Unknown - benign g.55668684del g.55157316del TNNI3(NM_000363.4):c.12-7delC, TNNI3(NM_000363.5):c.12-7delC - TNNI3_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.12-7del r.(=) p.(=) Unknown - benign g.55668684del g.55157316del TNNI3(NM_000363.4):c.12-7delC, TNNI3(NM_000363.5):c.12-7delC - TNNI3_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.12-7del r.(=) p.(=) Unknown - likely benign g.55668684del - TNNI3(NM_000363.4):c.12-7delC, TNNI3(NM_000363.5):c.12-7delC - TNNI3_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.25-28G>C r.(=) p.(=) Unknown - benign g.55668529C>G g.55157161C>G - - DNAAF3_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.25-10C>G r.(=) p.(=) Unknown - benign g.55668511G>C g.55157143G>C - - DNAAF3_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.25-8T>A r.(=) p.(=) Unknown - benign g.55668509A>T g.55157141A>T TNNI3(NM_000363.4):c.25-8T>A, TNNI3(NM_000363.5):c.25-8T>A - TNNI3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.25-8T>A r.(=) p.(=) Unknown - benign g.55668509A>T g.55157141A>T TNNI3(NM_000363.4):c.25-8T>A, TNNI3(NM_000363.5):c.25-8T>A - TNNI3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.25-8T>A r.(=) p.(=) Unknown - benign g.55668509A>T g.55157141A>T TNNI3(NM_000363.4):c.25-8T>A, TNNI3(NM_000363.5):c.25-8T>A - TNNI3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 2i c.25-8T>A r.(?) p.(=) Unknown - benign g.55668509A>T g.55157141A>T - - TNNI3_000008 - PubMed: Kimura 1997 - - Germline ? - - - - DNA PCR, SEQ - - CMH - PubMed: Kimura 1997 - - - Japan - - - - - 1 Peikuan Cong
-/. 2i c.25-8T>A r.(?) p.(=) Unknown - benign g.55668509A>T g.55157141A>T IVS2-8T>A 1698T>A - TNNI3_000008 - PubMed: Erdmann 2003 - - Germline no - - - - DNA PCR, SEQ, SSCA - - CMH - PubMed: Erdmann 2003 - - - Germany - - - - - 1 Peikuan Cong
-?/. 2i c.25-8T>A r.(?) p.(=) Paternal (inferred) - likely benign g.55668509A>T g.55157141A>T IVS3-8T>A - TNNI3_000008 - PubMed: Carballo 2009, OMIM:var0012 - - Germline no - - - - DNA SEQ - - CMD - PubMed: Carballo 2009, OMIM:var0012 3-generation family, 3 affecteds, deceased grandfather M - United States - - - - - 3 Peikuan Cong
-?/. 2i c.25-8T>A r.(?) p.(=) Maternal (confirmed) - likely benign g.55668509A>T g.55157141A>T IVS3-8T>A - TNNI3_000008 - PubMed: Carballo 2009, OMIM:var0012 - - Germline no - - - - DNA SEQ - - CMD - PubMed: Carballo 2009, OMIM:var0012 3-generation family, 3 affecteds, deceased grandfather M - United States - - - - - 3 Peikuan Cong
?/. 2i c.25-8T>A r.(?) p.(=) Parent #1 - VUS g.55668509A>T g.55157141A>T IVS3-8T>A - TNNI3_000008 homozygous individuals - - - Germline no - - - - DNA PCR, SEQ - - Healthy/Control - - - - - Japan - - - - - 25 Johan den Dunnen
?/. 2i c.25-8T>A r.(?) p.(=) Parent #2 - VUS g.55668509A>T g.55157141A>T IVS3-8T>A - TNNI3_000008 homozygous individuals - - - Germline no - - - - DNA PCR, SEQ - - Healthy/Control - - - - - Japan - - - - - 25 Johan den Dunnen
?/. 2i c.25-8T>A r.(?) p.(=) Parent #1 - VUS g.55668509A>T g.55157141A>T IVS3-8T>A - TNNI3_000008 heterozygous individuals - - - Germline no - - - - DNA PCR, SEQ - - Healthy/Control - - - - - Japan - - - - - 126 Johan den Dunnen
+?/. 2i c.25-8T>A r.(?) p.(=) Parent #1 - likely pathogenic g.55668509A>T g.55157141A>T IVS3-8T>A - TNNI3_000008 homozygous individuals - - - Germline no - - - - DNA PCR, SEQ - - CMD - - - - - Japan - - - - - 8 Johan den Dunnen
+?/. 2i c.25-8T>A r.(?) p.(=) Parent #2 - likely pathogenic g.55668509A>T g.55157141A>T IVS3-8T>A - TNNI3_000008 homozygous individuals - - - Germline no - - - - DNA PCR, SEQ - - CMD - - - - - Japan - - - - - 8 Johan den Dunnen
+?/. 2i c.25-8T>A r.(?) p.(=) Parent #1 - likely pathogenic g.55668509A>T g.55157141A>T IVS3-8T>A - TNNI3_000008 heterozygous individuals - - - Germline no - - - - DNA PCR, SEQ - - CMD - - - - - Japan - - - - - 6 Johan den Dunnen
?/. 2i c.25-8T>A r.(?) p.(=) Parent #1 - VUS g.55668509A>T g.55157141A>T IVS3-8T>A - TNNI3_000008 homozygous individuals - - - Germline no - - - - DNA PCR, SEQ - - CMH - - - - - Japan - - - - - 5 Johan den Dunnen
?/. 2i c.25-8T>A r.(?) p.(=) Parent #2 - VUS g.55668509A>T g.55157141A>T IVS3-8T>A - TNNI3_000008 homozygous individuals - - - Germline no - - - - DNA PCR, SEQ - - CMH - - - - - Japan - - - - - 5 Johan den Dunnen
?/. 2i c.25-8T>A r.(?) p.(=) Parent #1 - VUS g.55668509A>T g.55157141A>T IVS3-8T>A - TNNI3_000008 heterozygous individuals - - - Germline no - - - - DNA PCR, SEQ - - CMH - - - - - Japan - - - - - 6 Johan den Dunnen
-/. - c.25-8T>A r.(=) p.(=) Unknown - benign g.55668509A>T g.55157141A>T TNNI3(NM_000363.4):c.25-8T>A, TNNI3(NM_000363.5):c.25-8T>A - TNNI3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.25-4C>T r.spl? p.? Unknown - likely benign g.55668505G>A g.55157137G>A TNNI3(NM_000363.4):c.25-4C>T, TNNI3(NM_000363.5):c.25-4C>T - TNNI3_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.25-4C>T r.spl? p.? Unknown - likely benign g.55668505G>A g.55157137G>A TNNI3(NM_000363.4):c.25-4C>T, TNNI3(NM_000363.5):c.25-4C>T - TNNI3_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.25-4C>T r.spl? p.? Unknown - benign g.55668505G>A - TNNI3(NM_000363.4):c.25-4C>T, TNNI3(NM_000363.5):c.25-4C>T - TNNI3_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.25G>T r.(?) p.(Ala9Ser) Unknown - VUS g.55668501C>A - TNNI3(NM_000363.5):c.25G>T (p.A9S) - DNAAF3_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.37C>A r.(?) p.(Arg13Ser) Unknown - VUS g.55668489G>T - TNNI3(NM_000363.5):c.37C>A (p.R13S) - DNAAF3_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.45A>C r.(?) p.(Ala15=) Unknown - likely benign g.55668481T>G g.55157113T>G TNNI3(NM_000363.5):c.45A>C (p.A15=) - DNAAF3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.46C>A r.(?) p.(Pro16Thr) Parent #1 - pathogenic g.55668480G>T g.55157112G>T - - TNNI3_000066 not in 440 control chromosomes PubMed: Murakami 2010 - - Unknown yes 1/36 cases - - - DNA SEQ - - CMD - PubMed: Murakami 2010 - M - Japan - 73y - - - 1 Johan den Dunnen
-/. 3 c.48A>G r.(?) p.(=) Unknown - benign g.55668478T>C g.55157110T>C - - TNNI3_000014 - PubMed: Kimura 1997 - - Germline ? - - - - DNA PCR, SEQ - - CMH - PubMed: Kimura 1997 - - - Japan - - - - - 1 Peikuan Cong
-?/. - c.55A>G r.(?) p.(Ile19Val) Unknown - likely benign g.55668471T>C g.55157103T>C TNNI3(NM_000363.4):c.55A>G (p.I19V) - DNAAF3_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.61C>T r.(?) p.(Arg21Cys) Parent #1 - pathogenic g.55668465G>A g.55157097G>A R21C - TNNI3_000052 - PubMed: Arad 2005, OMIM:var0016 - - Germline yes - - - - DNA SEQ - - CMH - PubMed: Arad 2005 3-generation family, 7 affected, 2 asymptomatic carrier - - United States - - - - - 4 Peikuan Cong
?/. - c.65G>A r.(?) p.(Arg22His) Unknown - VUS g.55668461C>T g.55157093C>T - - TNNI3_000185 VUS favour pathogenic PubMed: Walsh 2017 - - Germline - 1/756 cases - - - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United States - - - - - 1 Johan den Dunnen
?/. - c.68C>G r.(?) p.(Ser23Cys) Unknown - VUS g.55668458G>C g.55157090G>C TNNI3(NM_000363.4):c.68C>G (p.S23C) - TNNI3_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.83C>T r.(?) p.(Ala28Val) Unknown - VUS g.55668443G>A - - - DNAAF3_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.88G>A r.(?) p.(Ala30Thr) Unknown - likely pathogenic g.55668438C>T g.55157070C>T TNNI3(NM_000363.4):c.88G>A (p.A30T) - TNNI3_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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