C4748014[trait identifier] AND "3billion"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2572503	NM_020778.5(ALPK3):c.691C>T (p.Gln231Ter)	ALPK3 (Q231*)	Single nucleotide variant (nonsense)	Cardiomyopathy, familial hypertrophic 27 +1 more	GPathogenic/Likely pathogenic
Select item 1414127	NM_020778.5(ALPK3):c.3340C>T (p.Arg1114Ter)	ALPK3 (R1114*)	Single nucleotide variant (nonsense)	Cardiomyopathy, familial hypertrophic 27 +2 more	GPathogenic
Select item 2572382	NM_020778.5(ALPK3):c.3409_3436del (p.Pro1137fs)	ALPK3 (P1137fs)	Deletion (frameshift variant)	Cardiomyopathy, familial hypertrophic 27	GLikely pathogenic
Select item 636490	NM_020778.5(ALPK3):c.3580dup (p.Arg1194fs)	ALPK3 (R1194fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1526097	NM_020778.5(ALPK3):c.3635_3636del (p.Arg1212fs)	ALPK3 (R1212fs)	Microsatellite (frameshift variant)	Cardiomyopathy, familial hypertrophic 27	GLikely pathogenic
Select item 1705567	NM_020778.5(ALPK3):c.3691G>T (p.Glu1231Ter)	ALPK3 (E1231* +1 more)	Single nucleotide variant (nonsense)	Cardiomyopathy, familial hypertrophic 27	GLikely pathogenic
Select item 1526110	NM_020778.5(ALPK3):c.4199del (p.Asp1400fs)	ALPK3 (D1400fs)	Deletion (frameshift variant)	Cardiomyopathy, familial hypertrophic 27	GLikely pathogenic
Select item 636381	NM_020778.5(ALPK3):c.4234C>T (p.Arg1412Ter)	ALPK3 (R1614* +1 more)	Single nucleotide variant (nonsense)	Cardiomyopathy, familial hypertrophic 27 +2 more	GPathogenic

ClinVar