Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs114638163
rs114638163
MIPEP
A 0.700 CausalMutation CLINVAR MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. 27799064

2016
dbSNP: rs397516248
rs397516248
MYH7 ; MHRT
T 0.700 CausalMutation CLINVAR Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy. 24664454

2014
dbSNP: rs397516248
rs397516248
MYH7 ; MHRT
T 0.700 CausalMutation CLINVAR 165th ENMC International Workshop: distal myopathies 6-8th February 2009 Naarden, The Netherlands. 19477645

2009
dbSNP: rs1060501439
rs1060501439
MYH7
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1559598775
rs1559598775
TTN ; TTN-AS1
A 0.700 CausalMutation CLINVAR

dbSNP: rs543860009
rs543860009
TTN ; TTN-AS1
A 0.700 CausalMutation CLINVAR

dbSNP: rs587782927
rs587782927
DSP
C 0.700 GeneticVariation CLINVAR

dbSNP: rs587782961
rs587782961
MYH7
C 0.700 GeneticVariation CLINVAR

dbSNP: rs587782986
rs587782986
TTN ; TTN-AS1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs606231324
rs606231324
MYH7
T 0.700 GeneticVariation CLINVAR

dbSNP: rs730880199
rs730880199
RYR2
G 0.700 GeneticVariation CLINVAR

dbSNP: rs760187215
rs760187215
MYH7
T 0.700 GeneticVariation CLINVAR

dbSNP: rs869025523
rs869025523
SCN5A
GCA 0.700 GeneticVariation CLINVAR

dbSNP: rs869025544
rs869025544
TTN ; TTN-AS1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs878854378
rs878854378
TTN ; TTN-AS1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs766041336
rs766041336
TTN ; TTN-AS1
0.010 GeneticVariation BEFREE We show that the novel variant p.R634L in the RS domain of RBM20 co-segregates with LVNC, leading to titin mis-splicing as revealed by RNA sequencing of heart tissue in mutation carriers, protein analysis, and functional splice-reporter assays. 29029073

2017
dbSNP: rs775975702
rs775975702
DTNA
0.010 GeneticVariation BEFREE In conclusion, overexpression of the DTNA-p.N49S mutation in a mouse heart can be responsible for the phenotype of deep trabeculation, dilated cardiomyopathy, and cardiac dysfunction, which resembles the phenotype of LVNC. 29118297

2017
dbSNP: rs1181773712
rs1181773712
ANK2
0.010 GeneticVariation BEFREE One of these, p.Gly482Arg in HCN4, segregated with the combined bradycardia and LVNC phenotype in the entire family. 25145517

2014
dbSNP: rs794727637
rs794727637
HCN4
0.010 GeneticVariation BEFREE One of these, p.Gly482Arg in HCN4, segregated with the combined bradycardia and LVNC phenotype in the entire family. 25145517

2014
dbSNP: rs186471205
rs186471205
MYH7B
0.010 GeneticVariation BEFREE Both genes are expressed in heart and muscle tissues, and both mutations were predicted to be deleterious and were not found in the healthy population.The R890C mutation in the MYH7B gene segregated with the LVNC phenotype in the examined family. 23800289

2013
dbSNP: rs1407311947
rs1407311947
ACTC1 ; LOC101928174
0.010 GeneticVariation BEFREE A novel missense substitution in exon 1 of TPM1 (c.109A>G: p.Lys37Glu) was identified in three affected members of a family with isolated LVNC. 20965760

2011
dbSNP: rs199476303
rs199476303
TPM1
0.010 GeneticVariation BEFREE A novel missense substitution in exon 1 of TPM1 (c.109A>G: p.Lys37Glu) was identified in three affected members of a family with isolated LVNC. 20965760

2011
dbSNP: rs730881120
rs730881120
TNNT2
0.010 GeneticVariation BEFREE A novel missense substitution in exon 1 of TPM1 (c.109A>G: p.Lys37Glu) was identified in three affected members of a family with isolated LVNC. 20965760

2011
dbSNP: rs749941468
rs749941468
MYL3
0.010 GeneticVariation BEFREE A novel missense substitution in exon 1 of TPM1 (c.109A>G: p.Lys37Glu) was identified in three affected members of a family with isolated LVNC. 20965760

2011
dbSNP: rs764018132
rs764018132
DTNA
0.010 GeneticVariation BEFREE A novel missense substitution in exon 1 of TPM1 (c.109A>G: p.Lys37Glu) was identified in three affected members of a family with isolated LVNC. 20965760

2011