Related gene-specific medical variations for Gene (Select 6730) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3170024	NM_014230.4(SRP68):c.161T>C (p.Phe54Ser)	GALR2, SRP68 (F54S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170023	NM_014230.4(SRP68):c.160T>A (p.Phe54Ile)	GALR2, SRP68 (F54I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170022	NM_014230.4(SRP68):c.127C>G (p.Arg43Gly)	GALR2, SRP68 (R43G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605880	NM_014230.4(SRP68):c.77G>T (p.Gly26Val)	GALR2, SRP68 (G26V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2582671	NM_014230.4(SRP68):c.184+2T>C	GALR2, SRP68	Single nucleotide variant (splice donor variant)	Neutropenia, severe congenital, 10, autosomal recessive	GPathogenic
Select item 2544510	NM_014230.4(SRP68):c.74G>T (p.Gly25Val)	GALR2, SRP68 (G25V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334736	NM_014230.4(SRP68):c.79A>G (p.Ser27Gly)	GALR2, SRP68 (S27G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

ClinVar