ClinVar for MedGen (Select 1684816) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1226273	NM_003136.4(SRP54):c.1327+16_1327+32del	SRP54	Deletion (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1165954	NM_003136.4(SRP54):c.636A>C (p.Ile212=)	SRP54	Single nucleotide variant (synonymous variant)	Neutropenia, severe congenital, 8, autosomal dominant +3 more	GBenign/Likely benign
Select item 810690	NM_003136.4(SRP54):c.821G>A (p.Gly274Asp)	SRP54 (G274D +1 more)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 8, autosomal dominant	GPathogenic
Select item 810689	NM_003136.4(SRP54):c.668C>A (p.Ala223Asp)	SRP54 (A223D +1 more)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 8, autosomal dominant	GPathogenic
Select item 810688	NM_003136.4(SRP54):c.337G>C (p.Gly113Arg)	SRP54 (G113R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 430852	NM_003136.4(SRP54):c.343ACA[2] (p.Thr117del)	SRP54 (T117del +1 more)	Microsatellite (inframe_deletion)	Neutropenia, severe congenital, 8, autosomal dominant +1 more	GPathogenic/Likely pathogenic
Select item 430851	NM_003136.4(SRP54):c.343A>G (p.Thr115Ala)	SRP54 (T115A +1 more)	Single nucleotide variant (missense variant)	Shwachman-Diamond syndrome 1 +1 more	GPathogenic
Select item 430850	NM_003136.4(SRP54):c.677G>A (p.Gly226Glu)	SRP54 (G226E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic