Full data view for gene TNNT2

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_001001430.2 transcript reference sequence.

602 entries on 7 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.-15+6G>T r.(=) p.(=) Unknown - likely benign g.201346745C>A g.201377617C>A TNNT2(NM_001276347.1):c.-148+6G>T - LAD1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-13G>A r.(?) p.(=) Unknown - likely benign g.201342395C>T g.201373267C>T - - TNNT2_000246 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 10 c.(328_330?) r.(?) p.(Phe120Leu) Parent #1 - VUS g.? - Phe110Leu - TNNT2_000000 not in 300 control chromosomes PubMed: Torricelli 2003 - - Germline yes 1/150 cases - 0 - DNA DHPLC, PCR - - CMH - PubMed: Torricelli 2003 3-generation family, 3 affecteds - - Italy Tuscany - 0 - - 3 Peikuan Cong
?/. - c.34G>A r.(?) p.(Glu12Lys) Unknown - VUS g.201342349C>T g.201373221C>T TNNT2(NM_001001430.1):c.34G>A (p.E12K) - TNNT2_000194 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.40G>T r.(?) p.(Glu14Ter) Unknown - VUS g.201342343C>A g.201373215C>A TNNT2(NM_001276347.2):c.40G>T (p.E14*) - TNNT2_000193 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.41+18C>G r.(=) p.(=) Unknown - likely benign g.201342324G>C g.201373196G>C TNNT2(NM_001276347.1):c.41+18C>G - TNNT2_000192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.41+32G>A r.(=) p.(=) Unknown - likely benign g.201342310C>T g.201373182C>T - - TNNT2_000245 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.42-58G>A r.(=) p.(=) Unknown - benign g.201341341C>T g.201372213C>T - - TNNT2_000244 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.42-20G>A r.(=) p.(=) Unknown - benign g.201341303C>T g.201372175C>T TNNT2(NM_001001430.1):c.42-20G>A, TNNT2(NM_001276347.2):c.42-20G>A - TNNT2_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.42-20G>A r.(=) p.(=) Unknown - benign g.201341303C>T g.201372175C>T TNNT2(NM_001001430.1):c.42-20G>A, TNNT2(NM_001276347.2):c.42-20G>A - TNNT2_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.42-20G>A r.(=) p.(=) Unknown - benign g.201341303C>T g.201372175C>T TNNT2(NM_001001430.1):c.42-20G>A, TNNT2(NM_001276347.2):c.42-20G>A - TNNT2_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.42-6T>C r.(=) p.(=) Unknown - likely benign g.201341289A>G g.201372161A>G - - TNNT2_000243 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.52+6C>G r.(=) p.(=) Unknown - likely benign g.201341267G>C g.201372139G>C - - TNNT2_000242 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.52+7G>A r.(=) p.(=) Unknown - benign g.201341266C>T g.201372138C>T TNNT2(NM_001001430.1):c.52+7G>A, TNNT2(NM_001276347.2):c.52+7G>A - TNNT2_000188 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.52+7G>A r.(=) p.(=) Unknown - likely benign g.201341266C>T g.201372138C>T TNNT2(NM_001001430.1):c.52+7G>A, TNNT2(NM_001276347.2):c.52+7G>A - TNNT2_000188 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.52+7G>A r.(=) p.(=) Unknown - likely benign g.201341266C>T g.201372138C>T TNNT2(NM_001001430.1):c.52+7G>A, TNNT2(NM_001276347.2):c.52+7G>A - TNNT2_000188 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.52+13G>A r.(=) p.(=) Unknown - benign g.201341260C>T g.201372132C>T TNNT2(NM_000364.2):c.52+13G>A, TNNT2(NM_001276347.1):c.52+13G>A - TNNT2_000186 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.52+13G>A r.(=) p.(=) Unknown - likely benign g.201341260C>T g.201372132C>T TNNT2(NM_000364.2):c.52+13G>A, TNNT2(NM_001276347.1):c.52+13G>A - TNNT2_000186 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.52+48G>A r.(=) p.(=) Unknown - benign g.201341225C>T g.201372097C>T TNNT2(NM_000364.2):c.52+48G>A - TNNT2_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.52+48G>A r.(=) p.(=) Unknown - benign g.201341225C>T g.201372097C>T TNNT2(NM_000364.2):c.52+48G>A - TNNT2_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.53-47C>G r.(=) p.(=) Unknown - likely benign g.201341216G>C g.201372088G>C - - TNNT2_000241 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.53-12dup r.(=) p.(=) Unknown - likely benign g.201341181dup g.201372053dup TNNT2(NM_001276347.1):c.53-12dupT - TNNT2_000240 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.53-11_53-7del r.(=) p.(=) Unknown - benign g.201341181_201341185del g.201372053_201372057del TNNT2(NM_000364.2):c.53-11_53-7delCTTCT, TNNT2(NM_001001430.1):c.53-11_53-7delCTTCT, TNNT2(NM_001276347.1):c.53-11_53-7delCTTCT - TNNT2_000184 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.53-11_53-7del r.(=) p.(=) Unknown - benign g.201341181_201341185del g.201372053_201372057del TNNT2(NM_000364.2):c.53-11_53-7delCTTCT, TNNT2(NM_001001430.1):c.53-11_53-7delCTTCT, TNNT2(NM_001276347.1):c.53-11_53-7delCTTCT - TNNT2_000184 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.53-11_53-7del r.(=) p.(=) Unknown - benign g.201341181_201341185del g.201372053_201372057del TNNT2(NM_000364.2):c.53-11_53-7delCTTCT, TNNT2(NM_001001430.1):c.53-11_53-7delCTTCT, TNNT2(NM_001276347.1):c.53-11_53-7delCTTCT - TNNT2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.53-11_53-7del r.(=) p.(=) Unknown - benign g.201341181_201341185del g.201372053_201372057del TNNT2(NM_000364.2):c.53-11_53-7delCTTCT, TNNT2(NM_001001430.1):c.53-11_53-7delCTTCT, TNNT2(NM_001276347.1):c.53-11_53-7delCTTCT - TNNT2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 3i c.53-11_53-7del r.(?) p.(=) Unknown - benign g.201341181_201341185del g.201372053_201372057del IVS3-11CTTCTdel - TNNT2_000021 - PubMed: Daehmlow 2002 - - Germline no 37/92 chromosomes - 0 - DNA PCR, SEQ, SSCA - - CMD - PubMed: Daehmlow 2002 - - - Germany - - 0 - - 37 Johan den Dunnen
-/. 3i c.53-11_53-7del r.(?) p.(=) Unknown - benign g.201341181_201341185del g.201372053_201372057del IVS3-11CTTCTdel - TNNT2_000021 not in 50 controls PubMed: Erdmann 2003 - - Germline no - - 0 - DNA PCR, SEQ, SSCA - - CMH - PubMed: Erdmann 2003 - - - Germany - - 0 - - 1 Johan den Dunnen
-/. 3i c.53-11_53-7del r.(?) p.(=) Unknown - benign g.201341181_201341185del g.201372053_201372057del del CTCTT - TNNT2_000021 - PubMed: Torricelli 2003 - - Germline no 0.49 - 0 - DNA DHPLC, PCR - - Healthy/Control - PubMed: Torricelli 2003 - - - Italy - - 0 - - 1 Peikuan Cong
-/. 3i c.53-11_53-7del r.(?) p.(=) Unknown - benign g.201341181_201341185del g.201372053_201372057del del CTCTT - TNNT2_000021 not in 110 controls PubMed: Stefanelli 2004 - - Germline no 1/30 cases - 0 - DNA PCR, SEQ - - CMD - PubMed: Stefanelli 2004 - - - United States - - 0 - - 1 Peikuan Cong
+?/. 3i c.53-11_53-7del r.(?) p.(=) Unknown - likely pathogenic g.201341181_201341185del g.201372053_201372057del del CTCTT - TNNT2_000021 incl. 53 homozygous cases PubMed: Garcia-Castro 2007 - - Germline ? 158/230 chromosomes - 0 - DNA PCR, SEQ - - CMH - PubMed: Garcia-Castro 2007 - - - Spain - - 0 - - 115 Peikuan Cong
+?/. 3i c.53-11_53-7del r.(?) p.(=) Unknown - likely pathogenic g.201341181_201341185del g.201372053_201372057del del CTCTT - TNNT2_000021 incl. 102 homozygous cases PubMed: Garcia-Castro 2007 - - Germline ? 360/640 chromosomes - 0 - DNA PCR, SEQ - - Healthy/Control - PubMed: Garcia-Castro 2007 - - - Spain - - 0 - - 320 Peikuan Cong
-/. 3i c.53-11_53-7del r.(?) p.(=) Unknown - benign g.201341181_201341185del g.201372053_201372057del 3i del5bp - TNNT2_000021 - PubMed: Gimeno 2009 - - Germline - 35/127 cases - 0 - DNA DHPLC, SEQ - - CMH - PubMed: Gimeno 2009 - - - Spain - - 0 - - 35 Peikuan Cong
-/. - c.53-11_53-7del r.(=) p.(=) Unknown - benign g.201341181_201341185del g.201372053_201372057del TNNT2(NM_000364.2):c.53-11_53-7delCTTCT, TNNT2(NM_001001430.1):c.53-11_53-7delCTTCT, TNNT2(NM_001276347.1):c.53-11_53-7delCTTCT - TNNT2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.56C>G r.(?) p.(Ala19Gly) Unknown - VUS g.201341166G>C g.201372038G>C TNNT2(NM_001276347.2):c.56C>G (p.A19G) - TNNT2_000181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.63T>G r.(?) p.(Val21=) Unknown - likely benign g.201341159A>C g.201372031A>C TNNT2(NM_001276347.1):c.63T>G (p.V21=) - TNNT2_000239 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.63T>G r.(?) p.(Val21=) Unknown - likely benign g.201341159A>C g.201372031A>C TNNT2(NM_001276347.1):c.63T>G (p.V21=) - TNNT2_000239 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.68-1639C>T r.(=) p.(=) Unknown - likely benign g.201338994G>A g.201369866G>A - - TNNT2_000238 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.68-1626A>G r.(=) p.(=) Unknown - benign g.201338981T>C g.201369853T>C TNNT2(NM_000364.2):c.68-8A>G, TNNT2(NM_001276346.1):c.68-8A>G, TNNT2(NM_001276347.2):c.68-1626A>G - TNNT2_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.68-1626A>G r.(=) p.(=) Unknown - likely benign g.201338981T>C g.201369853T>C TNNT2(NM_000364.2):c.68-8A>G, TNNT2(NM_001276346.1):c.68-8A>G, TNNT2(NM_001276347.2):c.68-1626A>G - TNNT2_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.68-1626A>G r.(=) p.(=) Unknown - benign g.201338981T>C g.201369853T>C TNNT2(NM_000364.2):c.68-8A>G, TNNT2(NM_001276346.1):c.68-8A>G, TNNT2(NM_001276347.2):c.68-1626A>G - TNNT2_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.68-1626A>G r.(=) p.(=) Unknown - benign g.201338981T>C g.201369853T>C TNNT2(NM_000364.2):c.68-8A>G, TNNT2(NM_001276346.1):c.68-8A>G, TNNT2(NM_001276347.2):c.68-1626A>G - TNNT2_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.68-1624C>A r.(=) p.(=) Unknown - likely benign g.201338979G>T g.201369851G>T - - TNNT2_000237 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.68-1623C>T r.(=) p.(=) Unknown - benign g.201338978G>A g.201369850G>A TNNT2(NM_001276347.2):c.68-1623C>T - TNNT2_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.68-1623C>T r.(=) p.(=) Unknown - benign g.201338978G>A g.201369850G>A TNNT2(NM_001276347.2):c.68-1623C>T - TNNT2_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.68-1623del r.(=) p.(=) Unknown - likely benign g.201338979del g.201369851del TNNT2(NM_000364.2):c.68-5delC, TNNT2(NM_001276347.1):c.68-1623delC - TNNT2_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.68-1623del r.(=) p.(=) Unknown - likely benign g.201338979del g.201369851del TNNT2(NM_000364.2):c.68-5delC, TNNT2(NM_001276347.1):c.68-1623delC - TNNT2_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.68-1623_68-1621delinsTT r.(=) p.(=) Unknown - VUS g.201338976_201338978delinsAA g.201369848_201369850delinsAA TNNT2(NM_001276346.1):c.68-5_68-3delCTCinsTT - TNNT2_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.68-1623_68-1621delinsTT r.(=) p.(=) Unknown - likely benign g.201338976_201338978delinsAA g.201369848_201369850delinsAA TNNT2(NM_001276346.1):c.68-5_68-3delCTCinsTT - TNNT2_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.68-1621C>T r.(=) p.(=) Unknown - likely benign g.201338976G>A g.201369848G>A TNNT2(NM_000364.2):c.68-3C>T, TNNT2(NM_001276347.1):c.68-1621C>T - TNNT2_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.68-1621C>T r.(=) p.(=) Unknown - likely benign g.201338976G>A g.201369848G>A TNNT2(NM_000364.2):c.68-3C>T, TNNT2(NM_001276347.1):c.68-1621C>T - TNNT2_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.68-1621del r.(=) p.(=) Unknown - benign g.201338976del g.201369848del TNNT2(NM_001276347.2):c.68-1621delC - TNNT2_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.68-1621del r.(=) p.(=) Unknown - benign g.201338976del g.201369848del TNNT2(NM_001276347.2):c.68-1621delC - TNNT2_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.68-1596C>T r.(=) p.(=) Unknown - likely benign g.201338951G>A g.201369823G>A - - TNNT2_000236 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.68-1595G>A r.(=) p.(=) Unknown - VUS g.201338950C>T g.201369822C>T TNNT2(NM_000364.3):c.91G>A (p.(Glu31Lys)) - TNNT2_000257 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.68-1592G>C r.(=) p.(=) Unknown - VUS g.201338947C>G g.201369819C>G TNNT2(NM_001276345.2):c.94G>C (p.D32H) - TNNT2_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.68-1589G>A r.(=) p.(=) Unknown - VUS g.201338944C>T g.201369816C>T TNNT2(NM_001276345.2):c.97G>A (p.E33K) - TNNT2_000235 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.68-81G>A r.(=) p.(=) Unknown - likely benign g.201337436C>T g.201368308C>T TNNT2(NM_001276347.1):c.68-81G>A - TNNT2_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.68-81G>A r.(=) p.(=) Unknown - likely benign g.201337436C>T g.201368308C>T TNNT2(NM_001276347.1):c.68-81G>A - TNNT2_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.68-6_68-4delinsTT r.spl? p.? Unknown - VUS g.201337359_201337361delinsAA g.201368231_201368233delinsAA - - TNNT2_000234 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.80C>T r.(?) p.(Ala27Val) Parent #1 - pathogenic g.201337343G>A g.201368215G>A A27V - TNNT2_000071 - PubMed: Rani 2008 - - Germline yes 1/384 cases - 0 - DNA PCR, SEQ - - CMH - PubMed: Rani 2008 - - - India - - 0 - - 1 Johan den Dunnen
+/. 5 c.83C>T r.(?) p.(Ala28Val) Parent #1 - pathogenic g.201337340G>A g.201368212G>A - - TNNT2_000045 - PubMed: Cecconi 2016, Journal: Cecconi 2016 - - Germline - reads 0.52 - 0 - DNA SEQ-NG-I - - CMH Pat241 PubMed: Cecconi 2016, Journal: Cecconi 2016 - F - Italy - - 0 - - 1 Domenico Coviello
-?/. - c.83C>T r.(?) p.(Ala28Val) Unknown - likely benign g.201337340G>A g.201368212G>A TNNT2(NM_001276347.1):c.83C>T (p.A28V), TNNT2(NM_001276347.2):c.83C>T (p.A28V) - TNNT2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 5 c.83C>T r.(?) p.(Ala28Val) Parent #1 - likely pathogenic g.201337340G>A g.201368212G>A Ala28Val - TNNT2_000045 not in 600 control chromosomes PubMed: Morita 2006 - - Germline yes 1/1862 cases TspRI+ 0 - DNA PCR, SEQ - - ? - PubMed: Morita 2006 - - - United States - - 0 - - 1 Peikuan Cong
+?/. 5 c.83C>T r.(?) p.(Ala28Val) Parent #1 - likely pathogenic g.201337340G>A g.201368212G>A Ala28Val - TNNT2_000045 - PubMed: Curila 2009 - - Germline yes 1/100 cases - 0 - DNA PCR, SEQ - - CMH - PubMed: Curila 2009 2-generation family, 1 affected M - Czech Republic - - 0 - - 1 Peikuan Cong
-?/. - c.83C>T r.(?) p.(Ala28Val) Unknown - likely benign g.201337340G>A g.201368212G>A TNNT2(NM_001276347.1):c.83C>T (p.A28V), TNNT2(NM_001276347.2):c.83C>T (p.A28V) - TNNT2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.83C>T r.(?) p.(Ala28Val) Unknown - benign g.201337340G>A g.201368212G>A TNNT2(NM_001276347.1):c.83C>T (p.A28V), TNNT2(NM_001276347.2):c.83C>T (p.A28V) - TNNT2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.94G>A r.(?) p.(Ala32Thr) Unknown - VUS g.201337329C>T - TNNT2(NM_001276347.1):c.94G>A (p.A32T) - TNNT2_000291 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.102A>G r.(?) p.(Ala34=) Unknown - likely benign g.201337321T>C g.201368193T>C - - TNNT2_000233 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.106G>C r.(?) p.(Ala36Pro) Unknown - VUS g.201337317C>G g.201368189C>G - - TNNT2_000289 - PubMed: Walsh 2017 - - Germline - 1/2912 cases - 0 - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United States - - 0 - - 1 Johan den Dunnen
-/. - c.114C>T r.(?) p.(Thr38=) Unknown - benign g.201337309G>A g.201368181G>A TNNT2(NM_001276347.2):c.114C>T (p.T38=) - TNNT2_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.133+12G>A r.(=) p.(=) Unknown - benign g.201337278C>T g.201368150C>T TNNT2(NM_000364.2):c.163+12G>A, TNNT2(NM_001001430.1):c.133+12G>A, TNNT2(NM_001276347.2):c.133+12G>A - TNNT2_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.133+12G>A r.(=) p.(=) Unknown - likely benign g.201337278C>T g.201368150C>T TNNT2(NM_000364.2):c.163+12G>A, TNNT2(NM_001001430.1):c.133+12G>A, TNNT2(NM_001276347.2):c.133+12G>A - TNNT2_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.133+12G>A r.(=) p.(=) Unknown - benign g.201337278C>T g.201368150C>T TNNT2(NM_000364.2):c.163+12G>A, TNNT2(NM_001001430.1):c.133+12G>A, TNNT2(NM_001276347.2):c.133+12G>A - TNNT2_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.133+12G>A r.(=) p.(=) Unknown - benign g.201337278C>T g.201368150C>T TNNT2(NM_000364.2):c.163+12G>A, TNNT2(NM_001001430.1):c.133+12G>A, TNNT2(NM_001276347.2):c.133+12G>A - TNNT2_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.133+120T>C r.(=) p.(=) Unknown - benign g.201337170A>G g.201368042A>G - - TNNT2_000232 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.134-57A>C r.(=) p.(=) Unknown - benign g.201336991T>G g.201367863T>G - - TNNT2_000231 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 5i c.134-50G>A r.(?) p.(=) Unknown - benign g.201336984C>T g.201367856C>T IVS5-50G>A - TNNT2_000022 not in 88 controls PubMed: Daehmlow 2002 - - Germline no 34/92 chromosomes - 0 - DNA PCR, SEQ, SSCA - - CMD - PubMed: Daehmlow 2002 - - - Germany - - 0 - - 34 Peikuan Cong
-/. 5i c.134-50G>A r.(?) p.(=) Unknown - benign g.201336984C>T g.201367856C>T IVS5-50G>A - TNNT2_000022 not in 50 controls PubMed: Erdmann 2003 - - Germline no - - 0 - DNA PCR, SEQ, SSCA - - CMH - PubMed: Erdmann 2003 - - - Germany - - 0 - - 1 Peikuan Cong
-/. - c.134-50G>A r.(=) p.(=) Unknown - benign g.201336984C>T g.201367856C>T - - TNNT2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.134-13G>A r.(=) p.(=) Unknown - benign g.201336947C>T g.201367819C>T TNNT2(NM_001276347.2):c.134-13G>A - TNNT2_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 6 c.137A>T r.(?) p.(Asp46Val) Parent #1 - pathogenic g.201336931T>A g.201367803T>A - - TNNT2_000076 not in 200 control chromosomes PubMed: Kubo 2011 - - Germline yes - - 0 - DNA SEQ - - CMH - PubMed: Kubo 2011 - - - Japan - - 0 - - 1 Johan den Dunnen
?/. - c.143A>G r.(?) p.(Glu48Gly) Unknown - VUS g.201336925T>C g.201367797T>C TNNT2(NM_001276347.1):c.143A>G (p.E48G) - TNNT2_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.145G>C r.(?) p.(Glu49Gln) Unknown - VUS g.201336923C>G g.201367795C>G - - TNNT2_000287 - PubMed: Walsh 2017 - - Germline - 1/3191 cases - 0 - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
?/. - c.147_149del r.(?) p.(Glu51del) Unknown - VUS g.201336927_201336929del g.201367799_201367801del 147_149delAGA - TNNT2_000288 - PubMed: Walsh 2017 - - Germline - 1/3191 cases - 0 - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
?/. - c.155C>A r.(?) p.(Ala52Glu) Unknown - VUS g.201336913G>T g.201367785G>T TNNT2(NM_001276347.1):c.155C>A (p.A52E), TNNT2(NM_001276347.2):c.155C>A (p.A52E) - TNNT2_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.155C>A r.(?) p.(Ala52Glu) Unknown - likely benign g.201336913G>T g.201367785G>T TNNT2(NM_001276347.1):c.155C>A (p.A52E), TNNT2(NM_001276347.2):c.155C>A (p.A52E) - TNNT2_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.155C>A r.(?) p.(Ala52Glu) Unknown - likely benign g.201336913G>T g.201367785G>T TNNT2(NM_001276347.1):c.155C>A (p.A52E), TNNT2(NM_001276347.2):c.155C>A (p.A52E) - TNNT2_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.155C>A r.(?) p.(Ala52Glu) Unknown - VUS g.201336913G>T - TNNT2(NM_001276347.1):c.155C>A (p.A52E), TNNT2(NM_001276347.2):c.155C>A (p.A52E) - TNNT2_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.170-73G>A r.(=) p.(=) Unknown - benign g.201336072C>T g.201366944C>T - - TNNT2_000230 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.170-29C>G r.(=) p.(=) Unknown - benign g.201336028G>C g.201366900G>C TNNT2(NM_001001430.1):c.170-29C>G - TNNT2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 6i c.170-29C>G r.(?) p.(=) Unknown - VUS g.201336028G>C g.201366900G>C IVS6-29C>G - TNNT2_000034 not in 50 controls PubMed: Erdmann 2003 - - Germline no - - 0 - DNA PCR, SEQ, SSCA - - CMH - PubMed: Erdmann 2003 - - - Germany - - 0 - - 1 Peikuan Cong
-/. - c.170-29C>G r.(=) p.(=) Unknown - benign g.201336028G>C g.201366900G>C TNNT2(NM_001001430.1):c.170-29C>G - TNNT2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.170-11A>G r.(=) p.(=) Unknown - benign g.201336010T>C g.201366882T>C TNNT2(NM_000364.2):c.200-11A>G, TNNT2(NM_001001430.1):c.170-11A>G, TNNT2(NM_001276347.1):c.170-11A>G, TNNT2(NM_001276347.2):c.170-11A>G - TNNT2_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.170-11A>G r.(=) p.(=) Unknown - likely benign g.201336010T>C g.201366882T>C TNNT2(NM_000364.2):c.200-11A>G, TNNT2(NM_001001430.1):c.170-11A>G, TNNT2(NM_001276347.1):c.170-11A>G, TNNT2(NM_001276347.2):c.170-11A>G - TNNT2_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.170-11A>G r.(=) p.(=) Unknown - benign g.201336010T>C g.201366882T>C TNNT2(NM_000364.2):c.200-11A>G, TNNT2(NM_001001430.1):c.170-11A>G, TNNT2(NM_001276347.1):c.170-11A>G, TNNT2(NM_001276347.2):c.170-11A>G - TNNT2_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.170-11A>G r.(=) p.(=) Unknown - benign g.201336010T>C g.201366882T>C TNNT2(NM_000364.2):c.200-11A>G, TNNT2(NM_001001430.1):c.170-11A>G, TNNT2(NM_001276347.1):c.170-11A>G, TNNT2(NM_001276347.2):c.170-11A>G - TNNT2_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.170-11A>G r.(=) p.(=) Unknown - likely benign g.201336010T>C g.201366882T>C TNNT2(NM_000364.2):c.200-11A>G, TNNT2(NM_001001430.1):c.170-11A>G, TNNT2(NM_001276347.1):c.170-11A>G, TNNT2(NM_001276347.2):c.170-11A>G - TNNT2_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.178A>G r.(?) p.(Met60Val) Unknown - VUS g.201335991T>C g.201366863T>C - - TNNT2_000286 - PubMed: Walsh 2017 - - Germline - 1/756 cases - 0 - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United States - - 0 - - 1 Johan den Dunnen
-?/. - c.183G>A r.(?) p.(Glu61=) Unknown - likely benign g.201335986C>T g.201366858C>T - - TNNT2_000256 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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