"Clinical Genomics Laboratory, Stanford Medicine"[submitter] AND "ALPK - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1190103	NM_020778.5(ALPK3):c.175T>C (p.Ser59Pro)	ALPK3 (S59P)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial hypertrophic 27 +2 more	GUncertain significance
Select item 1774197	NM_020778.5(ALPK3):c.904C>A (p.Leu302Met)	ALPK3 (L302M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1503713	NM_020778.5(ALPK3):c.2391C>A (p.Asn797Lys)	ALPK3 (N797K)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial hypertrophic 27 +1 more	GUncertain significance
Select item 1193213	NM_020778.5(ALPK3):c.3038G>A (p.Arg1013His)	ALPK3 (R1013H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1284767	NM_020778.5(ALPK3):c.3485G>C (p.Gly1162Ala)	ALPK3 (G1162A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 3241957	NM_020778.5(ALPK3):c.4900del (p.Gln1634fs)	ALPK3 (Q1634fs)	Deletion (frameshift variant)	Cardiomyopathy, familial hypertrophic 27	GUncertain significance
Select item 422575	NM_020778.5(ALPK3):c.4939A>T (p.Arg1647Trp)	ALPK3 (R1849W +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance

ClinVar