"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 421545	NM_020778.5(ALPK3):c.158G>A (p.Arg53Gln)	ALPK3 (R255Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 389628	NM_020778.5(ALPK3):c.884A>G (p.Tyr295Cys)	ALPK3 (Y497C +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 682812	NM_020778.5(ALPK3):c.1382G>A (p.Gly461Asp)	ALPK3 (G663D +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 1299846	NM_020778.5(ALPK3):c.1688T>C (p.Met563Thr)	ALPK3 (M563T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 390153	NM_020778.5(ALPK3):c.2444G>A (p.Gly815Glu)	ALPK3 (G1017E +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 389758	NM_020778.5(ALPK3):c.3867C>T (p.Ser1289=)	ALPK3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 508472	NM_020778.5(ALPK3):c.5012C>T (p.Ala1671Val)	ALPK3 (A1873V +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign

ClinVar