ClinVar for MedGen (Select 1794249) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3256112	NM_001291746.2(REL):c.659T>C (p.Phe220Ser)	REL (F220S)	Single nucleotide variant (missense variant)	Immunodeficiency 92	GUncertain significance
Select item 1327626	NM_001291746.2(REL):c.395-1G>A	REL	Single nucleotide variant (splice acceptor variant)	Immunodeficiency 92	GPathogenic
Select item 1327625	NM_001291746.2(REL):c.535+1G>A	REL	Single nucleotide variant (splice donor variant)	Immunodeficiency 92	GPathogenic

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