SLC6A7[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	ADAM19, ADAMTS2 +1166 more	Copy number gain	See cases	GPathogenic
Select item 493420	NM_014228.5(SLC6A7):c.8A>G (p.Lys3Arg)	SLC6A7 (K3R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2233728	NM_014228.5(SLC6A7):c.82G>C (p.Asp28His)	SLC6A7 (D28H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165483	NM_014228.5(SLC6A7):c.152T>C (p.Ile51Thr)	SLC6A7 (I51T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165490	NM_014228.5(SLC6A7):c.200C>T (p.Ala67Val)	SLC6A7 (A67V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340093	NM_014228.5(SLC6A7):c.430C>T (p.Leu144Phe)	SLC6A7 (L144F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251218	NM_014228.5(SLC6A7):c.469T>G (p.Cys157Gly)	SLC6A7 (C157G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291831	NM_014228.5(SLC6A7):c.538C>G (p.Pro180Ala)	SLC6A7 (P180A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165491	NM_014228.5(SLC6A7):c.587G>A (p.Arg196His)	SLC6A7 (R196H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601485	NM_014228.5(SLC6A7):c.592G>A (p.Val198Ile)	SLC6A7 (V198I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386497	NM_014228.5(SLC6A7):c.614A>C (p.Gln205Pro)	SLC6A7 (Q205P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349683	NM_014228.5(SLC6A7):c.640C>T (p.Arg214Cys)	SLC6A7 (R214C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519202	NM_014228.5(SLC6A7):c.641G>A (p.Arg214His)	SLC6A7 (R214H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388187	NM_014228.5(SLC6A7):c.649C>T (p.Leu217Phe)	SLC6A7 (L217F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165492	NM_014228.5(SLC6A7):c.671C>T (p.Ala224Val)	SLC6A7 (A224V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774636	NM_014228.5(SLC6A7):c.690C>T (p.Leu230=)	SLC6A7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2345175	NM_014228.5(SLC6A7):c.703G>A (p.Gly235Ser)	SLC6A7 (G235S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165493	NM_014228.5(SLC6A7):c.819C>A (p.Phe273Leu)	SLC6A7 (F273L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372042	NM_014228.5(SLC6A7):c.905G>A (p.Gly302Asp)	SLC6A7 (G302D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165494	NM_014228.5(SLC6A7):c.980C>T (p.Thr327Ile)	SLC6A7 (T327I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343929	NM_014228.5(SLC6A7):c.1030G>A (p.Val344Met)	SLC6A7 (V344M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588482	NM_014228.5(SLC6A7):c.1060G>A (p.Val354Met)	SLC6A7 (V354M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524564	NM_014228.5(SLC6A7):c.1064C>T (p.Pro355Leu)	SLC6A7 (P355L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484697	NM_014228.5(SLC6A7):c.1171A>G (p.Met391Val)	SLC6A7 (M391V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280290	NM_014228.5(SLC6A7):c.1222G>T (p.Val408Leu)	SLC6A7 (V408L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165482	NM_014228.5(SLC6A7):c.1258C>T (p.Arg420Trp)	SLC6A7 (R420W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731520	NM_014228.5(SLC6A7):c.1317G>A (p.Leu439=)	SLC6A7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2469076	NM_014228.5(SLC6A7):c.1406C>T (p.Thr469Met)	SLC6A7 (T469M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316854	NM_014228.5(SLC6A7):c.1423C>T (p.Arg475Trp)	SLC6A7 (R475W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532756	NM_014228.5(SLC6A7):c.1460A>C (p.His487Pro)	SLC6A7 (H487P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383624	NM_014228.5(SLC6A7):c.1464G>A (p.Met488Ile)	SLC6A7 (M488I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525131	NM_014228.5(SLC6A7):c.1508T>C (p.Leu503Pro)	SLC6A7 (L503P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473712	NM_014228.5(SLC6A7):c.1573G>A (p.Glu525Lys)	SLC6A7 (E525K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562361	NM_014228.5(SLC6A7):c.1588C>T (p.Arg530Cys)	SLC6A7 (R530C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491238	NM_014228.5(SLC6A7):c.1627G>A (p.Gly543Ser)	SLC6A7 (G543S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165484	NM_014228.5(SLC6A7):c.1655C>T (p.Ala552Val)	SLC6A7 (A552V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599158	NM_014228.5(SLC6A7):c.1660A>T (p.Met554Leu)	SLC6A7 (M554L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484945	NM_014228.5(SLC6A7):c.1702C>T (p.Arg568Trp)	LOC126807551, SLC6A7 (R568W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298234	NM_014228.5(SLC6A7):c.1705C>T (p.Leu569Phe)	LOC126807551, SLC6A7 (L569F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165485	NM_014228.5(SLC6A7):c.1717A>G (p.Ser573Gly)	LOC126807551, SLC6A7 (S573G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408835	NM_014228.5(SLC6A7):c.1720C>T (p.Arg574Trp)	LOC126807551, SLC6A7 (R574W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 493421	NM_014228.5(SLC6A7):c.1759C>T (p.Arg587Trp)	LOC126807551, SLC6A7 (R587W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3165486	NM_014228.5(SLC6A7):c.1814T>C (p.Met605Thr)	LOC126807551, SLC6A7 (M605T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286555	NM_014228.5(SLC6A7):c.1820A>C (p.His607Pro)	LOC126807551, SLC6A7 (H607P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165487	NM_014228.5(SLC6A7):c.1834G>A (p.Gly612Arg)	LOC126807551, SLC6A7 (G612R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357714	NM_014228.5(SLC6A7):c.1852G>A (p.Glu618Lys)	LOC126807551, SLC6A7 (E618K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410265	NM_014228.5(SLC6A7):c.1867G>A (p.Glu623Lys)	LOC126807551, SLC6A7 (E623K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165488	NM_014228.5(SLC6A7):c.1876C>A (p.Arg626Ser)	LOC126807551, SLC6A7 (R626S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310513	NM_014228.5(SLC6A7):c.1877G>A (p.Arg626His)	LOC126807551, SLC6A7 (R626H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270596	NM_014228.5(SLC6A7):c.1880A>G (p.Glu627Gly)	LOC126807551, SLC6A7 (E627G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165489	NM_014228.5(SLC6A7):c.1891G>C (p.Glu631Gln)	LOC126807551, SLC6A7 (E631Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387353	NM_014228.5(SLC6A7):c.1901C>T (p.Ser634Leu)	LOC126807551, SLC6A7 (S634L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425319	NC_000005.9:g.(?_147774340)_(149681936_?)del	ABLIM3, ADRB2 +23 more	Deletion	not provided	GUncertain significance
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	ADRB2, AFAP1L1 +385 more	Deletion	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 63