ClinVar for MedGen (Select 934621) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065921	NM_003055.3(SLC18A3):c.539C>G (p.Ala180Gly)	CHAT, SLC18A3 (A180G)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 21	GUncertain significance
Select item 1382334	NM_003055.3(SLC18A3):c.781G>C (p.Ala261Pro)	CHAT, SLC18A3 (A261P)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 21 +1 more	GUncertain significance
Select item 1032111	NM_003055.3(SLC18A3):c.88C>T (p.Arg30Trp)	CHAT, SLC18A3 (R30W)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 21 +1 more	GUncertain significance
Select item 1032110	NM_003055.3(SLC18A3):c.151A>G (p.Met51Val)	CHAT, SLC18A3 (M51V)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 21	GUncertain significance
Select item 1029501	NM_003055.3(SLC18A3):c.1093G>C (p.Ala365Pro)	CHAT, SLC18A3 (A365P)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 21	GUncertain significance
Select item 802572	NM_003055.3(SLC18A3):c.1559C>A (p.Ala520Glu)	CHAT, SLC18A3 (A520E)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 732977	NM_003055.3(SLC18A3):c.85C>T (p.Arg29Trp)	CHAT, SLC18A3 (R29W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 372160	NM_003055.3(SLC18A3):c.1192G>C (p.Asp398His)	CHAT, SLC18A3 (D398H)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 21	GLikely pathogenic
Select item 372159	NM_003055.3(SLC18A3):c.557G>C (p.Gly186Ala)	CHAT, SLC18A3 (G186A)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 21	GUncertain significance