"Genomics Facility, Ludwig-Maximilians-Universität München"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 805886	NM_015122.3(FCHO1):c.489+1G>A	FCHO1	Single nucleotide variant (splice donor variant)	Severe congenital neutropenia	GPathogenic
Select item 805888	NM_015122.3(FCHO1):c.1948C>T (p.Arg650Ter)	FCHO1 (R600* +1 more)	Single nucleotide variant (nonsense)	Immunodeficiency with T and B cell lymphopenia	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 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