"SNAP25-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 542730	NM_130811.4(SNAP25):c.6C>T (p.Ala2=)	SNAP25	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 775005	NM_130811.4(SNAP25):c.73-9A>G	SNAP25	Single nucleotide variant	Congenital myasthenic syndrome 18 +1 more	GLikely benign
Select item 1394489	NM_130811.4(SNAP25):c.296A>T (p.Asp99Val)	SNAP25 (D99V)	Single nucleotide variant (missense variant)	SNAP25-related condition +1 more	GConflicting classifications of pathogenicity
Select item 476113	NM_130811.4(SNAP25):c.366C>T (p.Asp122=)	SNAP25	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 18 +2 more	GLikely benign
Select item 542729	NM_130811.4(SNAP25):c.462C>T (p.Ser154=)	SNAP25	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign

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