ClinVar for MedGen (Select 56230) - ClinVar - NCBI

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Items: 6

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 16798211.	NM_002234.4(KCNA5):c.1105_1112del (p.Phe369fs) GRCh37: Chr12:5154416-5154423 GRCh38: Chr12:5045250-5045257	KCNA5	F369fs	Atrial fibrillation, familial, 7	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 16798202.	NM_021830.5(TWNK):c.1485-1G>A GRCh37: Chr10:102750192 GRCh38: Chr10:100990435	TWNK		Third degree atrioventricular block	Pathogenic (May 6, 2022)	no assertion criteria provided
Select item 16798193.	NM_182961.4(SYNE1):c.11083G>T (p.Glu3695Ter) GRCh37: Chr6:152674568 GRCh38: Chr6:152353433	SYNE1	E3680, E3695	Third degree atrioventricular block	Likely pathogenic (May 6, 2022)	no assertion criteria provided
Select item 16798184.	NM_001127208.3(TET2):c.3562A>T (p.Lys1188Ter) GRCh37: Chr4:106164052 GRCh38: Chr4:105242895	TET2, TET2-AS1	K1188*	Third degree atrioventricular block	Pathogenic (May 6, 2022)	no assertion criteria provided
Select item 6349025.	NM_001267550.2(TTN):c.49287C>A (p.Asn16429Lys) GRCh37: Chr2:179478837 GRCh38: Chr2:178614110	TTN, TTN-AS1	N16429K, N7489K, N7556K, N7364K, N13861K, N14788K	Third degree atrioventricular block	Likely pathogenic (Nov 16, 2018)	criteria provided, single submitter
Select item 2024156.	NM_001267550.2(TTN):c.82240C>T (p.Arg27414Ter) GRCh37: Chr2:179428619 GRCh38: Chr2:178563892	TTN, TTN-AS1	R25773, R27414, R18541, R18349, R18474, R24846	Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G, not provided	Pathogenic/Likely pathogenic (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts