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

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362732	NM_001375567.1(FOCAD):c.2932C>T (p.Leu978Phe)	FOCAD (L943F +1 more)	Single nucleotide variant (missense variant)	Liver disease, severe congenital	GUncertain significance
Select item 3362425	NM_001375567.1(FOCAD):c.5150G>T (p.Gly1717Val)	FOCAD (G1682V +1 more)	Single nucleotide variant (missense variant)	Liver disease, severe congenital	GUncertain significance
Select item 3245358	NC_000009.11:g.(?_20758069)_(20765092_?)del	FOCAD	Deletion	not provided	GUncertain significance
Select item 3245357	NC_000009.11:g.(?_20862557)_(20916956_?)del	FOCAD	Deletion	not provided	GUncertain significance
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