SLC1A6[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 147284	GRCh38/hg38 19p13.13-13.12(chr19:13533925-15371089)x1	ADGRE2, ADGRE3 +180 more	Copy number loss	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 144765	GRCh38/hg38 19p13.12-13.11(chr19:14154962-16914313)x1	ADGRE2, ADGRE3 +237 more	Copy number loss	See cases	GPathogenic
Select item 147745	GRCh38/hg38 19p13.12(chr19:14406909-15410770)x1	LOC130063788, LOC130063789 +77 more	Copy number loss	See cases	GUncertain significance
Select item 144311	GRCh38/hg38 19p13.12(chr19:14477761-15133653)x3	ADGRE2, ADGRE3 +41 more	Copy number gain	See cases	GUncertain significance
Select item 3163280	NM_005071.3(SLC1A6):c.1681G>A (p.Glu561Lys)	SLC1A6 (E561K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235724	NM_005071.3(SLC1A6):c.1670G>A (p.Arg557Gln)	SLC1A6 (R557Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211616	NM_005071.3(SLC1A6):c.1540A>G (p.Ile514Val)	SLC1A6 (I514V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163278	NM_005071.3(SLC1A6):c.1525G>A (p.Val509Ile)	SLC1A6 (V509I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2496132	NM_005071.3(SLC1A6):c.1486G>A (p.Val496Met)	SLC1A6 (V496M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279719	NM_005071.3(SLC1A6):c.1412C>T (p.Ala471Val)	SLC1A6 (A471V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524707	NM_005071.3(SLC1A6):c.1157G>C (p.Gly386Ala)	SLC1A6 (G386A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264793	NM_005071.3(SLC1A6):c.1150G>A (p.Ala384Thr)	SLC1A6 (A384T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212027	NM_005071.3(SLC1A6):c.1063G>A (p.Gly355Ser)	SLC1A6 (G355S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540028	NM_005071.3(SLC1A6):c.1036G>A (p.Val346Ile)	SLC1A6 (V346I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263534	NM_005071.3(SLC1A6):c.967G>T (p.Ala323Ser)	SLC1A6 (A323S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528307	NM_005071.3(SLC1A6):c.851G>T (p.Gly284Val)	SLC1A6 (G284V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2462914	NM_005071.3(SLC1A6):c.649G>A (p.Gly217Arg)	SLC1A6 (G217R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3163283	NM_005071.3(SLC1A6):c.627G>C (p.Arg209Ser)	SLC1A6 (R209S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3163282	NM_005071.3(SLC1A6):c.435C>T (p.Ile145=)	SLC1A6	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3163281	NM_005071.3(SLC1A6):c.433A>G (p.Ile145Val)	SLC1A6 (I145V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239785	NM_005071.3(SLC1A6):c.346A>G (p.Met116Val)	SLC1A6 (M116V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590098	NM_005071.3(SLC1A6):c.230G>A (p.Arg77His)	SLC1A6 (R77H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163279	NM_005071.3(SLC1A6):c.152G>A (p.Arg51His)	SLC1A6 (R51H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330312	NM_005071.3(SLC1A6):c.141G>T (p.Glu47Asp)	SLC1A6 (E47D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391544	NM_005071.3(SLC1A6):c.107G>A (p.Arg36His)	SLC1A6 (R36H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271008	NM_005071.3(SLC1A6):c.86G>T (p.Ser29Ile)	SLC1A6 (S29I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062393	GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3	CYP4F8, DCAF15 +109 more	Copy number gain	not specified	GUncertain significance
Select item 2684887	GRCh37/hg19 19p13.12-13.11(chr19:14888106-17360864)x3	ADGRE2, AKAP8 +55 more	Copy number gain	not provided	GUncertain significance
Select item 2425869	NC_000019.9:g.(?_14847048)_(17394124_?)del	ADGRE2, AKAP8 +57 more	Deletion	not provided	GUncertain significance
Select item 1526656	GRCh37/hg19 19p13.12-13.11(chr19:14124666-16431349)	ADGRE2, ADGRE3 +55 more	Copy number loss	not specified	GPathogenic
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 816068	GRCh37/hg19 19p13.12(chr19:14368330-15712368)x1	ADGRE2, ADGRE3 +30 more	Copy number loss	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442476	GRCh37/hg19 19p13.12-13.11(chr19:14883158-16788770)x1	ADGRE2, AKAP8 +45 more	Copy number loss	See cases	GPathogenic

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Items: 37