"Laboratory for Molecular Medicine, Mass General Brigham Personalized - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 504882	NM_020778.5(ALPK3):c.412C>T (p.Gln138Ter)	ALPK3 (Q340* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 504883	NM_020778.5(ALPK3):c.1828G>A (p.Val610Met)	ALPK3 (V812M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 929952	NM_020778.5(ALPK3):c.2645_2670del (p.Gly882fs)	ALPK3 (G882fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy	GLikely pathogenic
Select item 383786	NM_020778.5(ALPK3):c.3628C>T (p.Arg1210Trp)	ALPK3 (R1412W +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 384683	NM_020778.5(ALPK3):c.3711C>T (p.Asp1237=)	ALPK3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 504881	NM_020778.5(ALPK3):c.3726del (p.Lys1243fs)	ALPK3 (K1243fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 666961	NM_020778.5(ALPK3):c.4391del (p.Asn1464fs)	ALPK3 (N1464fs)	Deletion (frameshift variant)	Cardiomyopathy, familial hypertrophic 27 +3 more	GPathogenic/Likely pathogenic

ClinVar