NM_001160160.2:c.5696C>T NM_001354701.2:c.5738C>T NP_001153633.1:p.Ala1878Val NP_001153632.1:p.Ala1899Val
NP_001341630.1:p.Ala1913Val NP_932173.1:p.Ala1932Val NC_000003.12:g.38550577G>A LRG_289t1:c.5795C>T LRG_289:g.104096C>T NG_008934.1:g.104096C>T NC_000003.11:g.38592068G>A LRG_289p1:p.Ala1932Val NP_000326.2:p.Ala1931Val NP_001092874.1:p.Ala1932Val NM_001160161.2:c.5633C>T NM_000335.5:c.5792C>T NM_198056.3:c.5795C>T NP_001092875.1:p.Ala1914Val NM_001099405.2:c.5741C>T NM_001099404.2:c.5795C>T NP_932173.1:p.Ala1932Val NM_198056.2:c.5795C>T More...
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09/17/2019 |
missense variant |
likely benign|uncertain significance |
Atrial fibrillation, familial, 10; Cardiac conduction defect progressive; Cardiac rhythm disease; CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 2; CARDIOMYOPATHY, DILATED, WITH CONDUCTION DISORDER AND ARRHYTHMIA; Dilated cardiomyopathy 1E; Heart block progressive familial type 1; HEART BLOCK, PROGRESSIVE FAMILIAL, TYPE I; Heart block, progressive, type IA; Hereditary bundle branch system defect; Long QT syndrome 3; none provided; Progressive familial heart block, type 1A; PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA; Right bundle branch block, ST segment elevation, and sudden death syndrome; SCN5A-Associated Dilated Cardiomyopathy; SICK SINUS SYNDROME 1; Sick sinus syndrome 1, autosomal recessive; SICK SINUS SYNDROME, CONGENITAL; SINUS BRADYCARDIA SYNDROME, FAMILIAL; SINUS NODE DISEASE, FAMILIAL, AUTOSOMAL RECESSIVE; SINUS RHYTHM, CONGENITAL ABSENCE OF; Sudden Infant Death; SUDDEN INFANT DEATH SYNDROME; Ventricular fibrillation, paroxysmal familial, type 1 |