"Ambry Genetics"[submitter] AND "SLC22A13"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2513788	NM_004256.4(SLC22A13):c.38A>T (p.Asp13Val)	SLC22A13 (D13V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385177	NM_004256.4(SLC22A13):c.148T>G (p.Cys50Gly)	SLC22A13 (C50G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163350	NM_004256.4(SLC22A13):c.158C>A (p.Ala53Asp)	SLC22A13 (A53D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545645	NM_004256.4(SLC22A13):c.185T>C (p.Leu62Pro)	SLC22A13 (L62P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246030	NM_004256.4(SLC22A13):c.328G>C (p.Asp110His)	SLC22A13 (D110H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609773	NM_004256.4(SLC22A13):c.398G>A (p.Arg133Gln)	SLC22A13 (R133Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163351	NM_004256.4(SLC22A13):c.478G>A (p.Asp160Asn)	SLC22A13 (D160N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163352	NM_004256.4(SLC22A13):c.481C>T (p.Arg161Trp)	SLC22A13 (R161W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3163353	NM_004256.4(SLC22A13):c.604G>A (p.Val202Ile)	SLC22A13 (V202I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3163354	NM_004256.4(SLC22A13):c.730G>A (p.Ala244Thr)	SLC22A13 (A244T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371543	NM_004256.4(SLC22A13):c.742C>T (p.Arg248Cys)	SLC22A13 (R248C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209811	NM_004256.4(SLC22A13):c.743G>A (p.Arg248His)	SLC22A13 (R248H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518422	NM_004256.4(SLC22A13):c.800A>G (p.Tyr267Cys)	SLC22A13 (Y267C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240461	NM_004256.4(SLC22A13):c.823G>A (p.Ala275Thr)	LOC112935930, SLC22A13 (A275T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403156	NM_004256.4(SLC22A13):c.841C>T (p.Arg281Cys)	LOC112935930, SLC22A13 (R281C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163355	NM_004256.4(SLC22A13):c.881C>T (p.Ala294Val)	LOC112935930, SLC22A13 (A294V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557649	NM_004256.4(SLC22A13):c.893A>G (p.Asn298Ser)	LOC112935930, SLC22A13 (N298S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533738	NM_004256.4(SLC22A13):c.916C>A (p.Leu306Ile)	LOC112935930, SLC22A13 (L306I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348151	NM_004256.4(SLC22A13):c.925C>G (p.Gln309Glu)	LOC112935930, SLC22A13 (Q309E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206308	NM_004256.4(SLC22A13):c.982C>T (p.Pro328Ser)	SLC22A13 (P328S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163344	NM_004256.4(SLC22A13):c.1027G>T (p.Val343Leu)	SLC22A13 (V343L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163345	NM_004256.4(SLC22A13):c.1074C>T (p.Phe358=)	SLC22A13	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2486515	NM_004256.4(SLC22A13):c.1088A>G (p.Tyr363Cys)	SLC22A13 (Y363C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163346	NM_004256.4(SLC22A13):c.1121T>G (p.Val374Gly)	SLC22A13 (V374G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235036	NM_004256.4(SLC22A13):c.1174A>G (p.Ser392Gly)	SLC22A13 (S392G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163347	NM_004256.4(SLC22A13):c.1216A>G (p.Ile406Val)	SLC22A13 (I406V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516342	NM_004256.4(SLC22A13):c.1226T>C (p.Phe409Ser)	SLC22A13 (F409S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163348	NM_004256.4(SLC22A13):c.1387G>A (p.Gly463Arg)	SLC22A13 (G463R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516508	NM_004256.4(SLC22A13):c.1396C>T (p.Leu466Phe)	SLC22A13 (L466F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258634	NM_004256.4(SLC22A13):c.1508A>G (p.His503Arg)	SLC22A13 (H503R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3163349	NM_004256.4(SLC22A13):c.1543G>A (p.Glu515Lys)	SLC22A13 (E515K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265833	NM_004256.4(SLC22A13):c.1570A>G (p.Lys524Glu)	SLC22A13 (K524E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475587	NM_004256.4(SLC22A13):c.1640G>C (p.Ser547Thr)	SLC22A13 (S547T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 33