Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs76992529
rs76992529
TTR
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		A 0.780 CausalMutation CLINVAR

dbSNP: rs56793579
rs56793579
LMNA
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		G 0.710 CausalMutation CLINVAR On the other hand, affected subjects from three FPLD pedigrees with heterozygous R28W, R60G and R62G LMNA mutations in the amino-terminal had associated cardiomyopathy presenting as premature onset of congestive heart failure, dilated cardiomyopathy and conduction system disturbances. 20041886

2010
dbSNP: rs56793579
rs56793579
LMNA
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		G 0.710 CausalMutation CLINVAR Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene. 12015247

2002
dbSNP: rs56793579
rs56793579
LMNA
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		G 0.710 CausalMutation CLINVAR Post-mortem findings in familial partial lipodystrophy, Dunnigan variety. 12647844

2002
dbSNP: rs786205436
rs786205436
SDHD
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		G 0.710 CausalMutation CLINVAR A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency. 26008905

2015
dbSNP: rs1024095026
rs1024095026
ABCC9
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		A 0.700 GeneticVariation CLINVAR Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes. 23103869

2012
dbSNP: rs104894727
rs104894727
TNNI3
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517686
rs1057517686
ATAD3A
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		T 0.700 GeneticVariation CLINVAR Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. 27640307

2016
dbSNP: rs1057518905
rs1057518905
DPM3
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519457
rs1057519457
SCN1B
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		T 0.700 CausalMutation CLINVAR

dbSNP: rs111033559
rs111033559
PLN ; CEP85L
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		T 0.700 CausalMutation CLINVAR

dbSNP: rs111033560
rs111033560
PLN ; CEP85L
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs114638163
rs114638163
MIPEP
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		A 0.700 CausalMutation CLINVAR MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. 27799064

2016
dbSNP: rs121908987
rs121908987
PRKAG2
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121912998
rs121912998
DSP ; LOC101928076
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		A 0.700 CausalMutation CLINVAR Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young. 27435932

2016
dbSNP: rs121913628
rs121913628
MYH7
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121918070
rs121918070
TTR
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1242465339
rs1242465339
UQCRFS1
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		A 0.700 CausalMutation CLINVAR

dbSNP: rs141735183
rs141735183
MYH7
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1425855043
rs1425855043
PKP2
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		A 0.700 CausalMutation CLINVAR

dbSNP: rs148515772
rs148515772
EMD
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs148808089
rs148808089
MYH7
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1553644307
rs1553644307
TTN ; TTN-AS1
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1553663867
rs1553663867
TTN ; TTN-AS1
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1553707780
rs1553707780
TTN ; TTN-AS1
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		C 0.700 CausalMutation CLINVAR