ClinVar for OMIM (Select 620534) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2582672	NC_000017.11:g.(76070445_76072307)_(76072518_?)del	GALR2, SRP68	Deletion	Neutropenia, severe congenital, 10, autosomal recessive	GPathogenic
Select item 2582671	NM_014230.4(SRP68):c.184+2T>C	SRP68, GALR2	Single nucleotide variant (splice donor variant)	Neutropenia, severe congenital, 10, autosomal recessive	GPathogenic