Related gene-specific medical variations for Gene (Select 6728) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3322657	NM_003135.3(SRP19):c.5C>A (p.Ala2Asp)	LOC112997553, SRP19 (A2D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655638	NM_005669.5(REEP5):c.445G>A (p.Glu149Lys)	REEP5, SRP19 (E149K)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2541233	NM_003135.3(SRP19):c.19C>T (p.Arg7Trp)	LOC112997553, SRP19 (R7W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455349	NM_003135.3(SRP19):c.11C>G (p.Ala4Gly)	LOC112997553, SRP19 (A4G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355319	NM_003135.3(SRP19):c.31G>A (p.Asp11Asn)	LOC112997553, SRP19 (D11N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304099	NM_003135.3(SRP19):c.8G>A (p.Cys3Tyr)	LOC112997553, SRP19 (C3Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 810839	NM_003135.3(SRP19):c.189+5G>A	SRP19	Single nucleotide variant (intron variant)	Shwachman-Diamond syndrome 1 +1 more	GPathogenic

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