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 transcript reference sequence.

698 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.34G>A r.(?) p.(Glu12Lys) Unknown - VUS g.201342349C>T - TNNT2(NM_001001430.1):c.34G>A (p.E12K) - TNNT2_000194 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.41+16A>G r.(=) p.(=) Unknown - benign g.201342326T>C - TNNT2(NM_001276347.2):c.41+16A>G - TNNT2_000330 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.41+18C>G r.(=) p.(=) Unknown - likely benign g.201342324G>C g.201373196G>C TNNT2(NM_001276347.2):c.41+18C>G - TNNT2_000192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - 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.42-20G>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.42-20G>A r.(=) p.(=) Unknown - benign g.201341303C>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(NM_001276347.2):c.42-6T>C - TNNT2_000243 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.42-6T>C r.(=) p.(=) Unknown - likely benign g.201341289A>G - TNNT2(NM_001276347.2):c.42-6T>C - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - 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+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+12C>T r.(=) p.(=) Unknown - likely benign g.201341261G>A - TNNT2(NM_001276347.2):c.52+12C>T - TNNT2_000338 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.52+13G>A r.(=) p.(=) Unknown - benign g.201341260C>T g.201372132C>T TNNT2(NM_000364.4):c.52+13G>A, TNNT2(NM_001276347.2):c.52+13G>A - TNNT2_000186 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.52+13G>A r.(=) p.(=) Unknown - likely benign g.201341260C>T g.201372132C>T TNNT2(NM_000364.4):c.52+13G>A, TNNT2(NM_001276347.2):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_000364.4):c.52+48G>A - TNNT2_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.52+48G>A r.(=) p.(=) Unknown - benign g.201341225C>T g.201372097C>T TNNT2(NM_000364.4):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_001276347.2):c.53-12dupT - TNNT2_000240 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.53-12_53-9del r.(=) p.(=) Unknown - likely benign g.201341178_201341181del - - - TNNT2_000309 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.53-11_53-7del r.(=) p.(=) Unknown - benign g.201341181_201341185del g.201372053_201372057del TNNT2(NM_000364.4):c.53-11_53-7delCTTCT, TNNT2(NM_001001430.1):c.53-11_53-7delCTTCT - TNNT2_000184 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.53-11_53-7del r.(=) p.(=) Unknown - benign g.201341181_201341185del g.201372053_201372057del TNNT2(NM_000364.4):c.53-11_53-7delCTTCT, TNNT2(NM_001001430.1):c.53-11_53-7delCTTCT - TNNT2_000184 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.53-11_53-7del r.(=) p.(=) Unknown - benign g.201341181_201341185del g.201372053_201372057del TNNT2(NM_000364.4):c.53-11_53-7delCTTCT, TNNT2(NM_001001430.1):c.53-11_53-7delCTTCT - TNNT2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.53-11_53-7del r.(=) p.(=) Unknown - benign g.201341181_201341185del g.201372053_201372057del TNNT2(NM_000364.4):c.53-11_53-7delCTTCT, TNNT2(NM_001001430.1):c.53-11_53-7delCTTCT - TNNT2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 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 - - - DNA PCR, SEQ, SSCA - - CMD - PubMed: Daehmlow 2002 - - - Germany - - - - - 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 - - - - DNA PCR, SEQ, SSCA - - CMH - PubMed: Erdmann 2003 - - - Germany - - - - - 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 - - - DNA DHPLC, PCR - - Healthy/Control - PubMed: Torricelli 2003 - - - Italy - - - - - 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 - - - DNA PCR, SEQ - - CMD - PubMed: Stefanelli 2004 - - - United States - - - - - 1 Peikuan Cong
+?/. 3i c.53-11_53-7del r.(?) p.(=) Both (homozygous) - association g.201341181_201341185del g.201372053_201372057del del CTCTT - TNNT2_000021 homozygous cases have a higher risk of developing HCM PubMed: Garcia-Castro 2007 - - Germline ? 53/115 cases CMH - - - DNA PCR, SEQ - - CMH cases PubMed: Garcia-Castro 2007 - - - Spain - - - - - 53 Peikuan Cong
+?/. 3i c.53-11_53-7del r.(?) p.(=) Both (homozygous) - association g.201341181_201341185del g.201372053_201372057del del CTCTT - TNNT2_000021 - PubMed: Garcia-Castro 2007 - - Germline - 102/320 controls - - - DNA PCR, SEQ - - Healthy/Control controls PubMed: Garcia-Castro 2007 - - - Spain - - - - - 102 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 - - - DNA DHPLC, SEQ - - CMH - PubMed: Gimeno 2009 - - - Spain - - - - - 35 Peikuan Cong
-/. - c.53-11_53-7del r.(=) p.(=) Unknown - benign g.201341181_201341185del g.201372053_201372057del TNNT2(NM_000364.4):c.53-11_53-7delCTTCT, TNNT2(NM_001001430.1):c.53-11_53-7delCTTCT - TNNT2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3i c.53-11_53-7del r.(?) p.(=) Parent #1 - association g.201341181_201341185del g.201372053_201372057del del CTCTT - TNNT2_000021 - PubMed: Garcia-Castro 2007 - - Germline - 156/320 controls - - - DNA PCR, SEQ - - Healthy/Control - PubMed: Garcia-Castro 2007 - - - Spain - - - - - 156 Peikuan Cong
+?/. 3i c.53-11_53-7del r.(?) p.(=) Parent #1 - association g.201341181_201341185del g.201372053_201372057del del CTCTT - TNNT2_000021 - PubMed: Garcia-Castro 2007 - - Germline - 52/115 case CMH - - - DNA PCR, SEQ - - CMH cases PubMed: Garcia-Castro 2007 - - - Spain - - - - - 52 Peikuan Cong
-?/. - c.53-10_53-7del r.(=) p.(=) Unknown - likely benign g.201341176_201341179del - - - TNNT2_000324 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.53-9del r.(=) p.(=) Unknown - likely benign g.201341179del - - - TNNT2_000310 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.53-8_53-7del r.(=) p.(=) Unknown - likely benign g.201341177_201341178del - - - TNNT2_000308 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.53-7del r.(=) p.(=) Unknown - likely benign g.201341176del - - - TNNT2_000307 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.53-5A>G r.spl? p.? Unknown - likely benign g.201341174T>C - - - TNNT2_000306 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.53-4G>A r.spl? p.? Unknown - likely benign g.201341173C>T - - - TNNT2_000323 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.53-3C>T r.spl? p.? Unknown - likely benign g.201341172G>A - - - TNNT2_000305 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.53-2A>G r.spl? p.? Unknown - likely benign g.201341171T>C - - - TNNT2_000322 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.53A>T r.(?) p.(Glu18Val) Unknown - VUS g.201341169T>A - - - TNNT2_000304 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.54A>C r.(?) p.(Glu18Asp) Unknown - VUS g.201341168T>G - - - TNNT2_000303 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.54A>G r.(?) p.(Glu18=) Unknown - likely benign g.201341168T>C - - - TNNT2_000321 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - 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(NM_001276347.2):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(NM_001276347.2):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 - TNNT2(NM_001276347.1):c.63T>G (p.V21=), TNNT2(NM_001276347.2):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(NM_001001430.3):c.68-1639C>T - TNNT2_000238 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.68-1639C>T r.(=) p.(=) Unknown - likely benign g.201338994G>A - TNNT2(NM_001001430.3):c.68-1639C>T - 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_000364.4):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.68-1626A>G r.(=) p.(=) Unknown - likely benign g.201338981T>C g.201369853T>C TNNT2(NM_000364.4):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.68-1626A>G r.(=) p.(=) Unknown - benign g.201338981T>C g.201369853T>C TNNT2(NM_000364.4):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.68-1626A>G r.(=) p.(=) Unknown - benign g.201338981T>C g.201369853T>C TNNT2(NM_000364.4):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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - 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_000364.4):c.68-5delC, TNNT2(NM_001276347.2):c.68-1623delC - TNNT2_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.68-1623del r.(=) p.(=) Unknown - likely benign g.201338979del g.201369851del TNNT2(NM_000364.4):c.68-5delC, TNNT2(NM_001276347.2):c.68-1623delC - TNNT2_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - 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_000364.4):c.68-3C>T, TNNT2(NM_001276347.2):c.68-1621C>T - TNNT2_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.68-1621C>T r.(=) p.(=) Unknown - likely benign g.201338976G>A g.201369848G>A TNNT2(NM_000364.4):c.68-3C>T, TNNT2(NM_001276347.2):c.68-1621C>T - TNNT2_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - 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.68-1621del 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.68-1618A>T r.(=) p.(=) Unknown - VUS g.201338973T>A - TNNT2(NM_001276345.2):c.68A>T (p.E23V) - TNNT2_000329 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.68-1596C>T r.(=) p.(=) Unknown - likely benign g.201338951G>A g.201369823G>A TNNT2(NM_001276345.2):c.90C>T (p.D30=) - TNNT2_000236 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.68-1596C>T r.(=) p.(=) Unknown - benign g.201338951G>A - TNNT2(NM_001276345.2):c.90C>T (p.D30=) - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - 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.68-1541A>G r.(=) p.(=) Unknown - benign g.201338896T>C - TNNT2(NM_001001430.3):c.68-1541A>G - TNNT2_000325 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.68-1132G>A r.(=) p.(=) Unknown - benign g.201338487C>T - TNNT2(NM_001276347.2):c.68-1132G>A - TNNT2_000302 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.68-81G>A r.(=) p.(=) Unknown - likely benign g.201337436C>T g.201368308C>T TNNT2(NM_001276347.2):c.68-81G>A - TNNT2_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.68-81G>A r.(=) p.(=) Unknown - likely benign g.201337436C>T g.201368308C>T TNNT2(NM_001276347.2):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 - - - DNA PCR, SEQ - - CMH - PubMed: Rani 2008 - - - India - - - - - 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 - - - DNA SEQ-NG-I - - CMH Pat241 PubMed: Cecconi 2016, Journal: Cecconi 2016 - F - Italy - - - - - 1 Domenico Coviello
-?/. - c.83C>T r.(?) p.(Ala28Val) Unknown - likely benign g.201337340G>A g.201368212G>A TNNT2(NM_001001430.3):c.83C>T (p.A28V), TNNT2(NM_001276347.2):c.83C>T (p.A28V) - TNNT2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 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+ - - DNA PCR, SEQ - - ? - PubMed: Morita 2006 - - - United States - - - - - 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 - - - DNA PCR, SEQ - - CMH - PubMed: Curila 2009 2-generation family, 1 affected M - Czech Republic - - - - - 1 Peikuan Cong
-?/. - c.83C>T r.(?) p.(Ala28Val) Unknown - likely benign g.201337340G>A g.201368212G>A TNNT2(NM_001001430.3):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 - likely benign g.201337340G>A - TNNT2(NM_001001430.3):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.101C>T r.(?) p.(Ala34Val) Unknown - VUS g.201337322G>A - TNNT2(NM_001276347.2):c.101C>T (p.A34V) - TNNT2_000320 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.102A>G r.(?) p.(Ala34=) Unknown - likely benign g.201337321T>C g.201368193T>C TNNT2(NM_001276347.2):c.102A>G (p.A34=) - TNNT2_000233 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.102A>G r.(?) p.(Ala34=) Unknown - benign g.201337321T>C - TNNT2(NM_001276347.2):c.102A>G (p.A34=) - 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 - - - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United States - - - - - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.114C>T r.(?) p.(Thr38=) Unknown - likely benign g.201337309G>A - TNNT2(NM_001276347.2):c.114C>T (p.T38=) - TNNT2_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.114C>T r.(?) p.(Thr38=) Unknown - likely benign g.201337309G>A - TNNT2(NM_001276347.2):c.114C>T (p.T38=) - TNNT2_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.114C>T r.(?) p.(Thr38=) Unknown - likely benign g.201337309G>A - - - TNNT2_000172 - - - rs746492909 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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