ClinVar for Gene (Select 126807551) - ClinVar - NCBI

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Links from Gene

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3165488	NM_014228.5(SLC6A7):c.1876C>A (p.Arg626Ser)	LOC126807551, SLC6A7 (R626S)	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 3165486	NM_014228.5(SLC6A7):c.1814T>C (p.Met605Thr)	LOC126807551, SLC6A7 (M605T)	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 2484945	NM_014228.5(SLC6A7):c.1702C>T (p.Arg568Trp)	LOC126807551, SLC6A7 (R568W)	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 2408835	NM_014228.5(SLC6A7):c.1720C>T (p.Arg574Trp)	LOC126807551, SLC6A7 (R574W)	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 2357714	NM_014228.5(SLC6A7):c.1852G>A (p.Glu618Lys)	LOC126807551, SLC6A7 (E618K)	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 2298234	NM_014228.5(SLC6A7):c.1705C>T (p.Leu569Phe)	LOC126807551, SLC6A7 (L569F)	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 2270596	NM_014228.5(SLC6A7):c.1880A>G (p.Glu627Gly)	LOC126807551, SLC6A7 (E627G)	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 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129995052, LOC129995053 +1157 more	Copy number gain	See cases	GPathogenic
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 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	ADAM19, ADAMTS2 +1166 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