"Revvity Omics, Revvity"[submitter] AND "SYN1"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1641038	NM_006950.3(SYN1):c.1731C>T (p.Ala577=)	SYN1	Single nucleotide variant (synonymous variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders +1 more	GConflicting classifications of pathogenicity
Select item 2436527	NM_006950.3(SYN1):c.1174A>C (p.Met392Leu)	SYN1 (M392L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434031	NM_006950.3(SYN1):c.1110C>A (p.Cys370Ter)	SYN1 (C370*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2436526	NM_006950.3(SYN1):c.808A>G (p.Met270Val)	LOC121627969, SYN1 (M270V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1068662	NM_006950.3(SYN1):c.700C>T (p.Arg234Ter)	SYN1 (R234*)	Single nucleotide variant (nonsense)	Intellectual disability, X-linked 50 +2 more	GPathogenic
Select item 465099	NM_006950.3(SYN1):c.528-2A>T	SYN1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2690175	NM_006950.3(SYN1):c.337T>G (p.Ser113Ala)	SYN1 (S113A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 207465	NM_006950.3(SYN1):c.189G>T (p.Pro63=)	SYN1	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 1974021	NM_006950.3(SYN1):c.185C>T (p.Ser62Phe)	SYN1 (S62F)	Single nucleotide variant (missense variant)	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders +1 more	GUncertain significance