"GeneDx"[submitter] AND "SLC18A3"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58548	GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x1	AGAP9, ANTXRL +112 more	Copy number loss	See cases	GUncertain significance
Select item 57577	GRCh38/hg38 10q11.22-11.23(chr10:48173631-49920071)x3	ARHGAP22, ARHGAP22-IT1 +65 more	Copy number gain	See cases	GUncertain significance
Select item 1308564	NM_003055.3(SLC18A3):c.334C>T (p.Arg112Trp)	CHAT, SLC18A3 (R112W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 451558	NM_003055.3(SLC18A3):c.347del (p.Pro116fs)	CHAT, SLC18A3 (P116fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 1279739	NM_003055.3(SLC18A3):c.396T>C (p.Ala132=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 451787	NM_003055.3(SLC18A3):c.599T>A (p.Ile200Asn)	CHAT, SLC18A3 (I200N)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1305707	NM_020984.4(CHAT):c.-69+2202A>G	CHAT, SLC18A3 (I221V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1303172	NM_020984.4(CHAT):c.-69+2320T>A	CHAT, SLC18A3 (L260Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 451786	NM_003055.3(SLC18A3):c.945G>A (p.Trp315Ter)	CHAT, SLC18A3 (W315*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 1303981	NM_003055.3(SLC18A3):c.1445G>A (p.Arg482His)	CHAT, SLC18A3 (R482H)	Single nucleotide variant (missense variant +1 more)	not provided	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 1175691	NM_003055.3(SLC18A3):c.*39G>T	CHAT, SLC18A3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 253661	GRCh37/hg19 10q11.22-11.23(chr10:46491169-51081560)x1	AGAP10, AGAP9 +29 more	Copy number loss	See cases	GPathogenic
Select item 253563	GRCh37/hg19 10q11.22-11.23(chr10:46242057-51595050)x3	AGAP10, AGAP4 +35 more	Copy number gain	See cases	GPathogenic