LRG_254:g.58727G>A NG_008692.2:g.58727G>A NC_000001.11:g.156136299G>A NC_000001.10:g.156106090G>A
NP_733821.1:p.Val415Ile NP_733822.1:p.Val415Ile NP_005563.1:p.Val415Ile NM_170707.3:c.1243G>A NP_001244303.1:p.Val303Ile NP_001269553.1:p.Val334Ile NP_001269554.1:p.Val415Ile P02545:p.Val415Ile LRG_254t2:c.1243G>A NM_001282624.2:c.1000G>A NM_001282626.2:c.1243G>A NM_170707.4:c.1243G>A NM_001257374.3:c.907G>A NM_170707.2:c.1243G>A NM_001282625.2:c.1243G>A NP_001269555.1:p.Val415Ile NM_005572.4:c.1243G>A NM_170708.4:c.1243G>A More...
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12/06/2018 |
missense|missense variant |
likely benign|uncertain significance|not provided |
Benign scapuloperoneal muscular dystrophy with cardiomyopathy; Cardiogenital syndrome; Cardiomyopathies; CARDIOMYOPATHY WITH PRIMARY TESTICULAR FAILURE; CARDIOMYOPATHY, CONGESTIVE; CARDIOMYOPATHY, CONGESTIVE, WITH HYPERGONADOTROPIC HYPOGONADISM; CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 1; CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTROPIC HYPOGONADISM; CARDIOMYOPATHY, DILATED, WITH PREMATURE OVARIAN FAILURE; Cardiomyopathy, Familial Idiopathic; Charcot-Marie-Tooth disease type 2B1; Charcot-Marie-Tooth disease, axonal, Type 2B1; Charcot-Marie-Tooth disease, neuronal, Type 2B1; Charcot-Marie-Tooth Neuropathy Type 2B1; Charcot-Marie-Tooth, Type 2; CMT 2B1; Congenital muscular dystrophy due to LMNA mutation; Congenital muscular dystrophy, LMNA-related; Congestive cardiomyopathy-hypergonadotropic hypogonadism syndrome; Congestive or dilated cardiomyopathy with hypergonadotropic hypogonadism; CRANIOMANDIBULAR DERMATODYSOSTOSIS; Dilated cardiomyopathy 1A; Dilated cardiomyopathy with conduction defect; EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT; Emery-Dreifuss muscular dystrophy 3, autosomal recessive; Familial cardiomyopathy, hypogonadism, and collagenoma; Familial dilated cardiomyopathy with conduction defect due to LMNA mutation; Familial partial lipodystrophy 2; Familial partial lipodystrophy, Dunnigan type; Fetal hypokinesia sequence due to restrictive dermopathy; Genital anomaly with cardiomyopathy; HAUPTMANN-THANNHAUSER MUSCULAR DYSTROPHY; Heart-hand syndrome, Slovenian type; Hutchinson-Gilford syndrome; Hyperkeratosis-contracture syndrome; Idiopathic dilated cardiomyopathy; Lamin A-related Congenital Muscular Dystrophy; Lethal tight skin contracture syndrome; Limb-girdle muscular dystrophy, type 1B; Lipodystrophy, familial, of limbs and lower trunk; Lipodystrophy, reverse partial; Lipodystrophy, type A, associated with mandibuloacral dysplasia; LMNA-Related Emery-Dreifuss Muscular Dystrophy, Autosomal; Malouf syndrome; Mandibuloacral dysplasia with type A lipodystrophy; MUSCULAR DYSTROPHY WITH EARLY CONTRACTURES AND CARDIOMYOPATHY, AUTOSOMAL DOMINANT; MUSCULAR DYSTROPHY, PROXIMAL, TYPE 1B; Najjar syndrome; none provided; Partial lipodystrophy, Dunnigan; Progerin-producing progeroid laminopathy; Restrictive dermopathy; Restrictive dermopathy, lethal; SCAPULOILIOPERONEAL ATROPHY WITH CARDIOPATHY |