ClinVar for MedGen (Select 1823968) - 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 1701021	NM_001375567.1(FOCAD):c.4343del (p.Leu1448fs)	FOCAD (L1413fs +1 more)	Deletion (frameshift variant)	Liver disease, severe congenital	GPathogenic
Select item 1701020	NM_001375567.1(FOCAD):c.583C>T (p.Arg195Ter)	FOCAD (R195* +1 more)	Single nucleotide variant (nonsense)	Liver disease, severe congenital	GPathogenic
Select item 1701019	NM_001375567.1(FOCAD):c.2676dup (p.Trp893fs)	FOCAD (W858fs +1 more)	Duplication (frameshift variant)	Liver disease, severe congenital	GPathogenic
Select item 1701018	NM_001375567.1(FOCAD):c.5004G>C (p.Lys1668Asn)	FOCAD (K1633N +1 more)	Single nucleotide variant (missense variant)	Liver disease, severe congenital	GPathogenic
Select item 1701017	NM_001375567.1(FOCAD):c.[1687C>T;3694G>C]	FOCAD (A1232P +3 more)	Single nucleotide variant (missense variant)	Liver disease, severe congenital	GPathogenic
Select item 1701016	NM_001375567.1(FOCAD):c.2587C>T (p.Arg863Ter)	FOCAD (R863* +1 more)	Single nucleotide variant (nonsense)	Liver disease, severe congenital	GPathogenic

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