SLC22A18[gene] and "single gene"[properties] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2516534	NM_002555.6(SLC22A18):c.155G>A (p.Arg52Gln)	SLC22A18 (R137Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492384	NM_002555.6(SLC22A18):c.161T>C (p.Leu54Pro)	SLC22A18 (L139P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 6977	NM_002555.6(SLC22A18):c.257G>A (p.Arg86His)	SLC22A18 (R86H +1 more)	Single nucleotide variant (missense variant +1 more)	Rhabdomyosarcoma, somatic +1 more	GConflicting classifications of pathogenicity
Select item 2320234	NM_002555.6(SLC22A18):c.266G>C (p.Arg89Pro)	SLC22A18 (R174P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3163410	NM_002555.6(SLC22A18):c.367T>G (p.Ser123Ala)	SLC22A18 (S123A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 768418	NM_002555.6(SLC22A18):c.403+14del	SLC22A18	Deletion (intron variant)	not provided	GBenign
Select item 3163411	NM_002555.6(SLC22A18):c.404C>A (p.Ala135Asp)	SLC22A18 (A135D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163413	NM_002555.6(SLC22A18):c.412A>G (p.Met138Val)	SLC22A18 (M138V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3319091	NM_002555.6(SLC22A18):c.437C>T (p.Pro146Leu)	SLC22A18 (P231L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2641509	NM_002555.6(SLC22A18):c.453G>C (p.Ala151=)	SLC22A18	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2224619	NM_002555.6(SLC22A18):c.464G>A (p.Arg155Gln)	SLC22A18 (R155Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3163414	NM_002555.6(SLC22A18):c.511G>A (p.Gly171Ser)	SLC22A18 (G256S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3050688	NM_002555.6(SLC22A18):c.531del (p.Tyr178fs)	SLC22A18 (Y178fs +1 more)	Deletion (frameshift variant +1 more)	SLC22A18-related disorder	GBenign
Select item 2213095	NM_002555.6(SLC22A18):c.560C>T (p.Ala187Val)	SLC22A18 (A89V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217767	NM_002555.6(SLC22A18):c.604A>G (p.Ile202Val)	SLC22A18 (I287V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049607	NM_002555.6(SLC22A18):c.610G>A (p.Ala204Thr)	SLC22A18 (A106T +2 more)	Single nucleotide variant (missense variant)	SLC22A18-related disorder	GLikely benign
Select item 2325640	NM_002555.6(SLC22A18):c.637G>A (p.Ala213Thr)	SLC22A18 (A298T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2556324	NM_002555.6(SLC22A18):c.646C>G (p.Pro216Ala)	SLC22A18 (P118A +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2539837	NM_002555.6(SLC22A18):c.674T>G (p.Val225Gly)	SLC22A18 (V225G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163415	NM_002555.6(SLC22A18):c.679G>A (p.Asp227Asn)	SLC22A18 (D129N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225742	NM_002555.6(SLC22A18):c.694G>A (p.Ala232Thr)	SLC22A18 (A134T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 6978	NM_002555.6(SLC22A18):c.698C>T (p.Ser233Phe)	SLC22A18 (S233F +2 more)	Single nucleotide variant (missense variant)	Lung carcinoma	GPathogenic
Select item 2480314	NM_002555.6(SLC22A18):c.704T>C (p.Leu235Pro)	SLC22A18 (L137P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163416	NM_002555.6(SLC22A18):c.706C>T (p.Arg236Trp)	SLC22A18 (R236W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403456	NM_002555.6(SLC22A18):c.718G>T (p.Val240Phe)	SLC22A18 (V325F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319090	NM_002555.6(SLC22A18):c.752A>C (p.Asn251Thr)	SLC22A18 (N251T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542309	NM_002555.6(SLC22A18):c.800A>T (p.Asp267Val)	SLC22A18 (D169V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295831	NM_002555.6(SLC22A18):c.812T>C (p.Leu271Pro)	SLC22A18 (L173P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2431143	NM_002555.6(SLC22A18):c.865-1046C>T	SLC22A18	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 3163417	NM_002555.6(SLC22A18):c.908C>T (p.Ser303Leu)	SLC22A18 (S205L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470197	NM_002555.6(SLC22A18):c.932G>C (p.Ser311Thr)	SLC22A18 (S213T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623109	NM_002555.6(SLC22A18):c.952G>T (p.Val318Leu)	SLC22A18 (V318L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 723530	NM_002555.6(SLC22A18):c.982G>A (p.Val328Ile)	SLC22A18 (V230I +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3163406	NM_002555.6(SLC22A18):c.1048G>A (p.Asp350Asn)	SLC22A18 (D252N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711043	NM_002555.6(SLC22A18):c.1072T>C (p.Ser358Pro)	SLC22A18 (S260P +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3163407	NM_002555.6(SLC22A18):c.1091C>T (p.Thr364Ile)	SLC22A18 (T449I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557427	NM_002555.6(SLC22A18):c.1147G>A (p.Val383Ile)	SLC22A18 (V285I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1206297	NM_002555.6(SLC22A18):c.1183G>A (p.Val395Ile)	SLC22A18 (V297I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 711044	NM_002555.6(SLC22A18):c.1194C>T (p.His398=)	SLC22A18	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 711045	NM_002555.6(SLC22A18):c.1195G>T (p.Val399Leu)	SLC22A18 (V484L +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3163408	NM_002555.6(SLC22A18):c.1211A>C (p.Asn404Thr)	SLC22A18 (N489T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163409	NM_002555.6(SLC22A18):c.1247T>C (p.Met416Thr)	SLC22A18 (M318T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477432	NM_002555.6(SLC22A18):c.1250C>T (p.Pro417Leu)	SLC22A18 (P502L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785335	NM_002555.6(SLC22A18):c.1254G>A (p.Gln418=)	SLC22A18	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2604689	NM_002555.6(SLC22A18):c.1261G>A (p.Asp421Asn)	SLC22A18 (D323N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319089	NM_002555.6(SLC22A18):c.1270C>T (p.Arg424Trp)	SLC22A18 (R424W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 6976	NM_002555.6(SLC22A18):c.864_865ins[NC_000011.10:g.2919738_2919848]	SLC22A18	Insertion	Breast adenocarcinoma	GPathogenic

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Items: 54