"Ambry Genetics"[submitter] AND "SLC22A18"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2289224	NM_002555.6(SLC22A18):c.31G>A (p.Gly11Ser)	SLC22A18AS, SLC22A18 (G96S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493468	NM_002555.6(SLC22A18):c.51G>A (p.Met17Ile)	SLC22A18, SLC22A18AS (M17I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516534	NM_002555.6(SLC22A18):c.155G>A (p.Arg52Gln)	SLC22A18 (R137Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492384	NM_002555.6(SLC22A18):c.161T>C (p.Leu54Pro)	SLC22A18 (L139P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320234	NM_002555.6(SLC22A18):c.266G>C (p.Arg89Pro)	SLC22A18 (R174P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2253861	NM_002555.6(SLC22A18):c.271G>T (p.Ala91Ser)	SLC22A18 (A176S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2616753	NM_002555.6(SLC22A18):c.295G>A (p.Ala99Thr)	SLC22A18 (A184T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2485796	NM_002555.6(SLC22A18):c.304C>G (p.Leu102Val)	SLC22A18 (L102V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2209635	NM_002555.6(SLC22A18):c.391C>T (p.His131Tyr)	SLC22A18 (H131Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2365696	NM_002555.6(SLC22A18):c.414G>A (p.Met138Ile)	SLC22A18 (M223I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2403440	NM_002555.6(SLC22A18):c.425A>G (p.Asp142Gly)	SLC22A18 (D142G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2224619	NM_002555.6(SLC22A18):c.464G>A (p.Arg155Gln)	SLC22A18 (R155Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2363143	NM_002555.6(SLC22A18):c.481G>C (p.Gly161Arg)	SLC22A18 (G246R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2213095	NM_002555.6(SLC22A18):c.560C>T (p.Ala187Val)	SLC22A18 (A89V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217767	NM_002555.6(SLC22A18):c.604A>G (p.Ile202Val)	SLC22A18 (I287V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325640	NM_002555.6(SLC22A18):c.637G>A (p.Ala213Thr)	SLC22A18 (A298T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2556324	NM_002555.6(SLC22A18):c.646C>G (p.Pro216Ala)	SLC22A18 (P118A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2539837	NM_002555.6(SLC22A18):c.674T>G (p.Val225Gly)	SLC22A18 (V225G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225742	NM_002555.6(SLC22A18):c.694G>A (p.Ala232Thr)	SLC22A18 (A134T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2480314	NM_002555.6(SLC22A18):c.704T>C (p.Leu235Pro)	SLC22A18 (L137P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403456	NM_002555.6(SLC22A18):c.718G>T (p.Val240Phe)	SLC22A18 (V325F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542309	NM_002555.6(SLC22A18):c.800A>T (p.Asp267Val)	SLC22A18 (D169V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295831	NM_002555.6(SLC22A18):c.812T>C (p.Leu271Pro)	SLC22A18 (L173P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470197	NM_002555.6(SLC22A18):c.932G>C (p.Ser311Thr)	SLC22A18 (S213T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623109	NM_002555.6(SLC22A18):c.952G>T (p.Val318Leu)	SLC22A18 (V318L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557427	NM_002555.6(SLC22A18):c.1147G>A (p.Val383Ile)	SLC22A18 (V285I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1206297	NM_002555.6(SLC22A18):c.1183G>A (p.Val395Ile)	SLC22A18 (V297I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2477432	NM_002555.6(SLC22A18):c.1250C>T (p.Pro417Leu)	SLC22A18 (P502L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604689	NM_002555.6(SLC22A18):c.1261G>A (p.Asp421Asn)	SLC22A18 (D323N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 29