Related gene-specific medical variations for Gene (Select 6729) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3360929	NM_003136.4(SRP54):c.695A>T (p.Gln232Leu)	SRP54 (Q183L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3244086	NC_000014.8:g.(?_35465916)_(35488300_?)dup	SRP54	Duplication	not provided	GUncertain significance
Select item 3244085	NC_000014.8:g.(?_35488152)_(35498358_?)dup	SRP54	Duplication	not provided	GUncertain significance
Select item 3244084	NC_000014.8:g.(?_35465916)_(35498358_?)dup	SRP54	Duplication	not provided	GUncertain significance
Select item 3244082	NC_000014.8:g.(?_35465916)_(35498358_?)del	SRP54	Deletion	not provided	GUncertain significance
Select item 3065819	NM_003136.4(SRP54):c.1008T>A (p.Phe336Leu)	SRP54 (F287L +1 more)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 8, autosomal dominant	GLikely benign
Select item 1340422	GRCh37/hg19 14q13.2(chr14:35438691-35504578)x1	SRP54	Copy number loss	not provided	GUncertain significance

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