C0042514[trait identifier] AND "Blueprint Genetics"[submitter] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 201374	NM_001035.3(RYR2):c.1454G>A (p.Arg485Gln)	RYR2 (R485Q)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +6 more	GUncertain significance
Select item 222776	NM_002880.4(RAF1):c.1537-3T>C	RAF1	Single nucleotide variant (intron variant)	Ventricular tachycardia	GUncertain significance
Select item 36765	NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu)	SCN5A (V1950L +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome 3 +13 more	GBenign/Likely benign
Select item 48295	NM_000335.5(SCN5A):c.2770G>A (p.Val924Ile)	SCN5A (V924I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 222573	NM_004415.4(DSP):c.1901C>G (p.Thr634Arg)	DSP (T634R)	Single nucleotide variant (missense variant)	Ventricular tachycardia +4 more	GUncertain significance
Select item 143947	NM_004415.2(DSP):c.2131_2132delAG	DSP	Microsatellite (genic downstream transcript variant)	not provided +2 more	GPathogenic
Select item 180259	NM_005751.5(AKAP9):c.73G>A (p.Ala25Thr)	AKAP9 (A25T)	Single nucleotide variant (missense variant)	Ventricular tachycardia	GUncertain significance
Select item 180385	NM_000238.4(KCNH2):c.3350G>A (p.Cys1117Tyr)	KCNH2 (C1117Y +1 more)	Single nucleotide variant (missense variant)	Ventricular tachycardia	GUncertain significance
Select item 222667	NM_000238.4(KCNH2):c.448C>T (p.Pro150Ser)	KCNH2 (P150S +3 more)	Single nucleotide variant (missense variant)	Ventricular tachycardia	GUncertain significance
Select item 180316	NM_130797.4(DPP6):c.2246-6G>A	DPP6	Single nucleotide variant (intron variant)	Collapse (finding) +1 more	GUncertain significance
Select item 45582	NM_014000.3(VCL):c.1555A>C (p.Ile519Leu)	VCL (I519L)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W +6 more	GConflicting classifications of pathogenicity
Select item 180477	NM_001134363.3(RBM20):c.1019C>T (p.Pro340Leu)	RBM20 (P340L)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GLikely benign
Select item 180286	NM_000719.7(CACNA1C):c.5599C>T (p.Arg1867Trp)	CACNA1C, CACNA1C-AS1 (R1867W +13 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GConflicting classifications of pathogenicity
Select item 222764	NM_001005242.3(PKP2):c.980G>T (p.Gly327Val)	PKP2 (G327V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +4 more	GConflicting classifications of pathogenicity
Select item 180471	NM_001005242.3(PKP2):c.176A>T (p.Gln59Leu)	PKP2 (Q59L)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9	GConflicting classifications of pathogenicity
Select item 222647	NM_005477.3(HCN4):c.1732C>T (p.Arg578Trp)	HCN4 (R578W)	Single nucleotide variant (missense variant)	Brugada syndrome 8 +1 more	GUncertain significance
Select item 222831	NM_003673.4(TCAP):c.448G>A (p.Gly150Ser)	TCAP (G150S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance