C1832931[trait identifier] AND "MGZ Medical Genetics Center"[submitter - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1709321	NM_001035.3(RYR2):c.1818A>C (p.Arg606Ser)	RYR2 (R606S)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2	GUncertain significance
Select item 1709904	NM_001035.3(RYR2):c.1853G>T (p.Cys618Phe)	RYR2 (C618F)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2	GUncertain significance
Select item 201258	NM_001035.3(RYR2):c.5761C>T (p.Arg1921Trp)	RYR2 (R1921W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 1709903	NM_001035.3(RYR2):c.5962T>C (p.Cys1988Arg)	RYR2 (C1988R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +1 more	GUncertain significance
Select item 926036	NM_001035.3(RYR2):c.6772C>T (p.Arg2258Cys)	RYR2 (R2258C)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 1709600	NM_001035.3(RYR2):c.8960G>A (p.Ser2987Asn)	RYR2 (S2987N)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2	GUncertain significance
Select item 296764	NM_001035.3(RYR2):c.13718G>A (p.Arg4573His)	RYR2 (R4573H)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 862663	NM_001035.3(RYR2):c.13976A>G (p.Glu4659Gly)	RYR2 (E4659G)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1709175	NM_001035.3(RYR2):c.14014A>T (p.Met4672Leu)	RYR2 (M4672L)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2	GUncertain significance