"PreventionGenetics, part of Exact Sciences"[submitter] AND "SRP54"[ge - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1165954	NM_003136.4(SRP54):c.636A>C (p.Ile212=)	SRP54	Single nucleotide variant (synonymous variant)	Shwachman-Diamond syndrome 1 +4 more	GBenign/Likely benign
Select item 3059805	NM_003136.4(SRP54):c.786-5dup	SRP54	Duplication (intron variant)	SRP54-related disorder	GLikely benign
Select item 1671650	NM_003136.4(SRP54):c.1048-4G>T	SRP54	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1537938	NM_003136.4(SRP54):c.1191T>C (p.Ser397=)	SRP54	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1535386	NM_003136.4(SRP54):c.1296A>G (p.Lys432=)	SRP54	Single nucleotide variant (synonymous variant)	SRP54-related disorder +1 more	GBenign/Likely benign
Select item 1542004	NM_003136.4(SRP54):c.1328-9dup	SRP54	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1643159	NM_003136.4(SRP54):c.1328-9del	SRP54	Deletion (intron variant)	SRP54-related disorder +1 more	GBenign/Likely benign
Select item 1654892	NM_003136.4(SRP54):c.1423+9C>G	SRP54	Single nucleotide variant (intron variant)	SRP54-related disorder +1 more	GLikely benign

ClinVar