ClinVar Miner

List of variants reported as uncertain significance for dilated cardiomyopathy 1A by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (7):

Dilated cardiomyopathy 1A
Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2B1; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Hutchinson-Gilford syndrome; Congenital muscular dystrophy, LMNA-related
Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2B1; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Hutchinson-Gilford syndrome; Limb-girdle muscular dystrophy, type 1B; Congenital muscular dystrophy, LMNA-related; Emery-Dreifuss muscular dystrophy 3, autosomal recessive
Dilated cardiomyopathy 1A; Congenital muscular dystrophy, LMNA-related
Dilated cardiomyopathy 1A; Familial hypertrophic cardiomyopathy 4
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome; Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2B1; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Heart-hand syndrome, Slovenian type; Hutchinson-Gilford syndrome; Familial partial lipodystrophy 2; Mandibuloacral dysplasia with type A lipodystrophy; Lethal tight skin contracture syndrome; Congenital muscular dystrophy, LMNA-related; Emery-Dreifuss muscular dystrophy 3, autosomal recessive
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome; Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2B1; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Heart-hand syndrome, Slovenian type; Hutchinson-Gilford syndrome; Familial partial lipodystrophy 2; Mandibuloacral dysplasia with type A lipodystrophy; Limb-girdle muscular dystrophy, type 1B; Lethal tight skin contracture syndrome; Congenital muscular dystrophy, LMNA-related; Emery-Dreifuss muscular dystrophy 3, autosomal recessive

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Total variants: 3

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HGVS	dbSNP
NM_170707.4(LMNA):c.1243G>A (p.Val415Ile)	rs267607606
NM_170707.4(LMNA):c.1381-5G>A	rs730880133
NM_170707.4(LMNA):c.1756G>A (p.Val586Met)	rs758048062

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