Related gene-specific medical variations for Gene (Select 54914) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065759	NM_001375567.1(FOCAD):c.2961+1G>T	FOCAD	Single nucleotide variant (splice donor variant)	Liver disease, severe congenital	GLikely pathogenic
Select item 1703703	NM_001375567.1(FOCAD):c.1687C>T (p.Arg563Cys)	FOCAD (R563C +1 more)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1703702	NM_001375567.1(FOCAD):c.3694G>C (p.Ala1232Pro)	FOCAD (A1232P +1 more)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1340444	GRCh37/hg19 9p21.3(chr9:20887736-20938643)x1	FOCAD	Copy number loss	not provided	GUncertain significance
Select item 815246	GRCh37/hg19 9p21.3(chr9:20832145-20901604)x1	FOCAD	Copy number loss	not provided	GUncertain significance
Select item 689035	GRCh37/hg19 9p21.3(chr9:20845393-20907846)x1	FOCAD	Copy number loss	not provided	GUncertain significance
Select item 563562	GRCh37/hg19 9p21.3(chr9:20761903-20814793)x1	FOCAD	Copy number loss	not provided	GUncertain significance

ClinVar