SLC22A3[gene] and "single gene"[properties] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1241019	NM_021977.4(SLC22A3):c.-29G>A	SLC22A3	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 2534579	NM_021977.4(SLC22A3):c.32T>C (p.Val11Ala)	SLC22A3 (V11A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3163457	NM_021977.4(SLC22A3):c.116T>C (p.Val39Ala)	SLC22A3 (V39A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534575	NM_021977.4(SLC22A3):c.169G>A (p.Ala57Thr)	SLC22A3 (A57T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529950	NM_021977.4(SLC22A3):c.181G>C (p.Glu61Gln)	SLC22A3 (E61Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248482	NM_021977.4(SLC22A3):c.204G>C (p.Glu68Asp)	SLC22A3 (E68D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534576	NM_021977.4(SLC22A3):c.232T>C (p.Ser78Pro)	SLC22A3 (S78P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534577	NM_021977.4(SLC22A3):c.233C>G (p.Ser78Cys)	SLC22A3 (S78C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534578	NM_021977.4(SLC22A3):c.236G>T (p.Arg79Leu)	SLC22A3 (R79L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598774	NM_021977.4(SLC22A3):c.247C>T (p.Pro83Ser)	SLC22A3 (P83S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 739756	NM_021977.4(SLC22A3):c.258C>G (p.Arg86=)	SLC22A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2300852	NM_021977.4(SLC22A3):c.286G>C (p.Glu96Gln)	SLC22A3 (E96Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319114	NM_021977.4(SLC22A3):c.314C>G (p.Thr105Ser)	SLC22A3 (T105S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1285845	NM_021977.4(SLC22A3):c.430-10863C>T	SLC22A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2530312	NM_021977.4(SLC22A3):c.439G>C (p.Val147Leu)	SLC22A3 (V147L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163462	NM_021977.4(SLC22A3):c.457A>C (p.Met153Leu)	SLC22A3 (M153L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368798	NM_021977.4(SLC22A3):c.634C>T (p.Arg212Cys)	SLC22A3 (R212C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313345	NM_021977.4(SLC22A3):c.650T>A (p.Val217Glu)	SLC22A3 (V217E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272690	NM_021977.4(SLC22A3):c.652T>A (p.Phe218Ile)	SLC22A3 (F218I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163463	NM_021977.4(SLC22A3):c.707C>T (p.Ser236Leu)	SLC22A3 (S236L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163464	NM_021977.4(SLC22A3):c.733G>A (p.Val245Met)	SLC22A3 (V245M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621142	NM_021977.4(SLC22A3):c.775G>A (p.Gly259Arg)	SLC22A3 (G259R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525696	NM_021977.4(SLC22A3):c.787T>C (p.Phe263Leu)	SLC22A3 (F263L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361073	NM_021977.4(SLC22A3):c.797A>G (p.Asn266Ser)	SLC22A3 (N266S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319116	NM_021977.4(SLC22A3):c.801G>T (p.Trp267Cys)	SLC22A3 (W267C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262877	NM_021977.4(SLC22A3):c.824C>T (p.Thr275Met)	SLC22A3 (T275M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353434	NM_021977.4(SLC22A3):c.892C>T (p.Arg298Trp)	SLC22A3 (R298W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458894	NM_021977.4(SLC22A3):c.1042A>T (p.Arg348Trp)	SLC22A3 (R348W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509759	NM_021977.4(SLC22A3):c.1111C>A (p.Arg371Ser)	SLC22A3 (R371S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319115	NM_021977.4(SLC22A3):c.1112G>A (p.Arg371His)	SLC22A3 (R371H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358262	NM_021977.4(SLC22A3):c.1124T>G (p.Ile375Arg)	SLC22A3 (I375R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403662	NM_021977.4(SLC22A3):c.1132A>G (p.Asn378Asp)	SLC22A3 (N378D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163459	NM_021977.4(SLC22A3):c.1202T>C (p.Ile401Thr)	SLC22A3 (I401T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215973	NM_021977.4(SLC22A3):c.1220G>T (p.Arg407Leu)	SLC22A3 (R407L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1264425	NM_021977.4(SLC22A3):c.1233G>A (p.Ala411=)	SLC22A3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2493429	NM_021977.4(SLC22A3):c.1495C>T (p.Pro499Ser)	SLC22A3 (P499S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163460	NM_021977.4(SLC22A3):c.1496C>T (p.Pro499Leu)	SLC22A3 (P499L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224339	NM_021977.4(SLC22A3):c.1514T>C (p.Ile505Thr)	SLC22A3 (I505T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527628	NM_021977.4(SLC22A3):c.1599A>T (p.Glu533Asp)	SLC22A3 (E533D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163461	NM_021977.4(SLC22A3):c.1634G>C (p.Arg545Thr)	SLC22A3 (R545T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 687342	GRCh37/hg19 6q25.3(chr6:160789886-160897318)x1	SLC22A3	Copy number loss	not provided	GUncertain significance

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Items: 41