C1836906[trait identifier] AND "Institut für Laboratoriums- und Transf - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 47890	NM_144573.4(NEXN):c.1401AGA[2] (p.Glu470del)	NEXN (E470del +1 more)	Microsatellite (inframe_deletion)	Dilated cardiomyopathy 1CC +4 more	GUncertain significance
Select item 265834	NM_170707.4(LMNA):c.1073A>G (p.Glu358Gly)	LMNA (E358G +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely pathogenic
Select item 265837	NM_001035.3(RYR2):c.4069G>A (p.Asp1357Asn)	LOC126806067, RYR2 (D1357N)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 47656	NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu)	TTN, TTN-AS1 (K34293E +5 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure +7 more	GConflicting classifications of pathogenicity
Select item 265830	NM_001267550.2(TTN):c.68827G>T (p.Ala22943Ser)	TTN, TTN-AS1 (A22943S +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 47146	NM_001267550.2(TTN):c.59113C>T (p.Arg19705Cys)	TTN-AS1, TTN (R19705C +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 265838	NM_001927.4(DES):c.1315G>A (p.Glu439Lys)	DES (E439K)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 44580	NM_002667.5(PLN):c.37AGA[1] (p.Arg14del)	CEP85L, PLN (R14del)	Microsatellite (inframe_deletion +1 more)	Primary dilated cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 45717	NM_016203.4(PRKAG2):c.425C>T (p.Thr142Ile)	PRKAG2 (T142I +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 6 +7 more	GConflicting classifications of pathogenicity
Select item 265835	NM_001005242.3(PKP2):c.2194T>C (p.Ser732Pro)	PKP2 (S776P +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 6756	NM_001005242.3(PKP2):c.2014-1G>C	PKP2	Single nucleotide variant (splice acceptor variant)	Arrhythmogenic right ventricular cardiomyopathy +5 more	GPathogenic
Select item 265836	NM_001005242.3(PKP2):c.1138G>A (p.Glu380Lys)	PKP2 (E380K)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +3 more	GUncertain significance
Select item 265832	NM_002471.4(MYH6):c.3607dup (p.Ala1203fs)	MYH6 (A1203fs)	Duplication (frameshift variant)	Hypertrophic cardiomyopathy 14 +1 more	GUncertain significance
Select item 265831	NM_000257.4(MYH7):c.3715A>G (p.Ile1239Val)	MYH7 (I1239V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +1 more	GConflicting classifications of pathogenicity
Select item 265833	NM_024422.6(DSC2):c.2581G>A (p.Gly861Arg)	DSC2 (G861R)	Single nucleotide variant (3 prime UTR variant +1 more)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance