ClinVar for MedGen (Select 1781281) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2077811	NM_015122.3(FCHO1):c.596G>A (p.Arg199His)	FCHO1 (R149H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1552549	NM_015122.3(FCHO1):c.489+20G>A	FCHO1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 996543	NM_015122.3(FCHO1):c.27+1G>A	FCHO1	Single nucleotide variant (splice donor variant +1 more)	Immunodeficiency 76	GPathogenic
Select item 996542	NM_015122.3(FCHO1):c.120-1G>C	FCHO1	Single nucleotide variant (splice acceptor variant +1 more)	Immunodeficiency 76	GPathogenic
Select item 805887	NM_015122.3(FCHO1):c.195-2A>C	FCHO1	Single nucleotide variant (non-coding transcript variant +1 more)	Immunodeficiency 76 +1 more	GPathogenic
Select item 805885	NM_015122.3(FCHO1):c.2023dup (p.Val675fs)	FCHO1 (V625fs +1 more)	Duplication (frameshift variant)	Immunodeficiency 76 +1 more	GPathogenic
Select item 805884	NM_015122.3(FCHO1):c.100G>C (p.Ala34Pro)	FCHO1 (A34P)	Single nucleotide variant (missense variant +2 more)	Immunodeficiency 76 +1 more	GPathogenic
Select item 805883	NM_015122.3(FCHO1):c.2036G>C (p.Arg679Pro)	FCHO1 (R629P +8 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Immunodeficiency 76 +1 more	GPathogenic

ClinVar