"PreventionGenetics, part of Exact Sciences"[submitter] AND "SLC6A8"[g - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 130355	NM_005629.4(SLC6A8):c.-5A>G	SLC6A8	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases +4 more	GBenign
Select item 1092321	NM_005629.4(SLC6A8):c.144C>T (p.Ala48=)	SLC6A8	Single nucleotide variant (synonymous variant)	Creatine transporter deficiency +2 more	GLikely benign
Select item 389999	NM_005629.4(SLC6A8):c.282C>T (p.Tyr94=)	SLC6A8	Single nucleotide variant (synonymous variant +1 more)	SLC6A8-related condition +2 more	GBenign/Likely benign
Select item 588958	NM_005629.4(SLC6A8):c.318C>T (p.Phe106=)	SLC6A8	Single nucleotide variant (synonymous variant +1 more)	SLC6A8-related condition +1 more	GLikely benign
Select item 386740	NM_005629.4(SLC6A8):c.644+8C>T	SLC6A8	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 380584	NM_005629.4(SLC6A8):c.777+4C>T	SLC6A8	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 1989245	NM_005629.4(SLC6A8):c.778-10G>A	SLC6A8	Single nucleotide variant (intron variant)	SLC6A8-related condition +1 more	GUncertain significance
Select item 511341	NM_005629.4(SLC6A8):c.778-8C>G	SLC6A8	Single nucleotide variant (intron variant)	SLC6A8-related condition +2 more	GConflicting classifications of pathogenicity
Select item 379427	NM_005629.4(SLC6A8):c.813C>T (p.Val271=)	SLC6A8	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 386883	NM_005629.4(SLC6A8):c.819C>T (p.Val273=)	SLC6A8	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 416002	NM_005629.4(SLC6A8):c.820G>A (p.Val274Met)	SLC6A8 (V274M +1 more)	Single nucleotide variant (missense variant)	Creatine transporter deficiency	GUncertain significance FDA Recognized database
Select item 3030958	NM_005629.4(SLC6A8):c.961C>T (p.Leu321=)	SLC6A8	Single nucleotide variant (synonymous variant)	SLC6A8-related condition	GLikely benign
Select item 379398	NM_005629.4(SLC6A8):c.1016+9C>T	SLC6A8	Single nucleotide variant (intron variant)	Creatine transporter deficiency	GBenign FDA Recognized database
Select item 3044199	NM_005629.4(SLC6A8):c.1017-38C>G	SLC6A8	Single nucleotide variant (intron variant)	SLC6A8-related condition	GBenign
Select item 2683736	NM_005629.4(SLC6A8):c.1076TCT[1] (p.Phe360del)	SLC6A8 (F245del +2 more)	Microsatellite (inframe deletion)	Creatine transporter deficiency	GLikely pathogenic FDA Recognized database
Select item 698288	NM_005629.4(SLC6A8):c.1254+6C>T	SLC6A8	Single nucleotide variant (intron variant)	SLC6A8-related condition +1 more	GBenign/Likely benign
Select item 384631	NM_005629.4(SLC6A8):c.1281C>T (p.Thr427=)	SLC6A8	Single nucleotide variant (synonymous variant)	Creatine transporter deficiency +2 more	GLikely benign
Select item 1580267	NM_005629.4(SLC6A8):c.1392+17G>A	SLC6A8	Single nucleotide variant (intron variant)	SLC6A8-related condition +1 more	GBenign/Likely benign
Select item 416007	NM_005629.4(SLC6A8):c.1473C>T (p.Cys491=)	SLC6A8	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 942968	NM_005629.4(SLC6A8):c.1483G>A (p.Ala495Thr)	SLC6A8 (A485T +2 more)	Single nucleotide variant (missense variant)	Creatine transporter deficiency +1 more	GConflicting classifications of pathogenicity
Select item 240195	NM_005629.4(SLC6A8):c.1494C>T (p.Tyr498=)	SLC6A8	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 704818	NM_005629.4(SLC6A8):c.1496-7G>A	SLC6A8	Single nucleotide variant (intron variant)	SLC6A8-related condition +1 more	GBenign/Likely benign
Select item 416000	NM_005629.4(SLC6A8):c.1597-5C>T	SLC6A8	Single nucleotide variant (intron variant)	SLC6A8-related condition +2 more	GBenign/Likely benign
Select item 218675	NM_005629.4(SLC6A8):c.1649C>G (p.Thr550Ser)	SLC6A8 (T550S +2 more)	Single nucleotide variant (missense variant)	SLC6A8-related condition +4 more	GBenign/Likely benign
Select item 507936	NM_005629.4(SLC6A8):c.1692C>G (p.Phe564Leu)	SLC6A8 (F564L +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 3034634	NM_005629.4(SLC6A8):c.1767+8_1767+9insTCC	SLC6A8	Insertion (intron variant)	SLC6A8-related condition	GLikely benign
Select item 1084403	NM_005629.4(SLC6A8):c.1767+9C>A	SLC6A8	Single nucleotide variant (intron variant)	Creatine transporter deficiency +1 more	GLikely benign
Select item 533707	NM_005629.4(SLC6A8):c.1768-9C>G	SLC6A8	Single nucleotide variant (intron variant)	SLC6A8-related condition +1 more	GLikely benign
Select item 212213	NM_005629.4(SLC6A8):c.1768-3C>T	SLC6A8	Single nucleotide variant (intron variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 3050969	NM_005629.4(SLC6A8):c.1853C>A (p.Thr618Asn)	SLC6A8 (T503N +2 more)	Single nucleotide variant (missense variant)	SLC6A8-related condition	GUncertain significance
Select item 212214	NM_005629.4(SLC6A8):c.1890G>C (p.Val630=)	SLC6A8	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign

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Items: 31