C0042510[trait identifier] AND "Blueprint Genetics"[submitter] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 180257	NM_001103.4(ACTN2):c.82C>T (p.Arg28Cys)	ACTN2 (R28C)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 222577	NM_004415.4(DSP):c.3134G>A (p.Arg1045Gln)	DSP (R1045Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 180262	NM_005751.5(AKAP9):c.3580G>A (p.Ala1194Thr)	AKAP9 (A1194T)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 190484	NM_005751.5(AKAP9):c.4825_4826delinsCA (p.Arg1609Gln)	AKAP9 (R1609Q)	Indel (missense variant)	Ventricular fibrillation +3 more	GConflicting classifications of pathogenicity
Select item 222488	NM_005751.5(AKAP9):c.5272G>C (p.Asp1758His)	AKAP9 (D1758H)	Single nucleotide variant (missense variant)	Ventricular fibrillation	GUncertain significance
Select item 222521	NM_201596.3(CACNB2):c.334-8C>T	CACNB2	Single nucleotide variant (intron variant)	Ventricular fibrillation +1 more	GConflicting classifications of pathogenicity
Select item 180289	NM_201596.3(CACNB2):c.1056G>A (p.Ala352=)	CACNB2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 201978	NM_001005242.3(PKP2):c.964G>T (p.Gly322Cys)	PKP2 (G322C)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 222715	NM_002471.4(MYH6):c.2612G>A (p.Arg871His)	MYH6 (R871H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +7 more	GUncertain significance
Select item 190821	NM_000891.3(KCNJ2):c.973C>T (p.Arg325Cys)	KCNJ2 (R325C)	Single nucleotide variant (missense variant)	Ventricular fibrillation +4 more	GConflicting classifications of pathogenicity
Select item 222568	NM_001943.5(DSG2):c.3265G>A (p.Gly1089Ser)	DSG2-AS1, DSG2 (G1089S)	Single nucleotide variant (missense variant)	Ventricular fibrillation	GUncertain significance
Select item 180509	NM_001037.5(SCN1B):c.448+112G>A	SCN1B (R187H)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 180563	NM_017636.4(TRPM4):c.1682A>C (p.Asp561Ala)	TRPM4 (D561A +4 more)	Single nucleotide variant (missense variant)	Progressive familial heart block type IB +5 more	GBenign/Likely benign
Select item 180530	NM_003098.3(SNTA1):c.1210G>A (p.Ala404Thr)	SNTA1 (A404T)	Single nucleotide variant (missense variant)	Ventricular fibrillation	GUncertain significance