"Ambry Genetics"[submitter] AND "SLC16A11"[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2508960	NM_001370549.1(SLC16A11):c.1228G>C (p.Gly410Arg)	SLC16A11 (G410R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2553620	NM_001370549.1(SLC16A11):c.1151C>T (p.Ser384Phe)	SLC16A11 (S384F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2460331	NM_001370549.1(SLC16A11):c.1088G>A (p.Gly363Glu)	LOC130060101, SLC16A11 (G363E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513690	NM_001370549.1(SLC16A11):c.1066G>C (p.Val356Leu)	SLC16A11 (V356L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241454	NM_001370549.1(SLC16A11):c.1024G>C (p.Gly342Arg)	SLC16A11 (G342R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217754	NM_001370549.1(SLC16A11):c.965C>T (p.Ala322Val)	SLC16A11 (A322V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270902	NM_001370549.1(SLC16A11):c.904G>A (p.Val302Met)	LOC130060102, SLC16A11 (V302M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311561	NM_001370549.1(SLC16A11):c.760G>A (p.Gly254Arg)	LOC130060102, SLC16A11 (G254R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223938	NM_001370549.1(SLC16A11):c.752G>C (p.Gly251Ala)	LOC130060102, SLC16A11 (G251A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471813	NM_001370549.1(SLC16A11):c.716T>C (p.Val239Ala)	LOC130060102, SLC16A11 (V239A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226065	NM_001370549.1(SLC16A11):c.709C>T (p.Pro237Ser)	LOC130060102, SLC16A11 (P237S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257972	NM_001370549.1(SLC16A11):c.697G>A (p.Gly233Arg)	LOC130060102, SLC16A11 (G233R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266898	NM_001370549.1(SLC16A11):c.683C>G (p.Ala228Gly)	LOC130060102, SLC16A11 (A228G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543804	NM_001370549.1(SLC16A11):c.680C>G (p.Thr227Arg)	LOC130060102, SLC16A11 (T227R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349439	NM_001370549.1(SLC16A11):c.641T>C (p.Leu214Pro)	LOC130060102, SLC16A11 (L214P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348149	NM_001370549.1(SLC16A11):c.610C>T (p.Arg204Cys)	LOC130060102, SLC16A11 (R204C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341191	NM_001370549.1(SLC16A11):c.529G>T (p.Gly177Cys)	SLC16A11 (G177C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251399	NM_001370549.1(SLC16A11):c.515C>A (p.Ala172Asp)	SLC16A11 (A172D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306349	NM_001370549.1(SLC16A11):c.497C>T (p.Thr166Ile)	SLC16A11 (T166I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2560786	NM_001370549.1(SLC16A11):c.493G>C (p.Asp165His)	SLC16A11 (D165H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219416	NM_001370549.1(SLC16A11):c.458C>T (p.Ser153Leu)	SLC16A11 (S153L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2496239	NM_001370549.1(SLC16A11):c.329G>T (p.Gly110Val)	SLC16A11 (G110V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310900	NM_001370549.1(SLC16A11):c.317A>G (p.His106Arg)	SLC16A11 (H106R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457690	NM_001370549.1(SLC16A11):c.307G>T (p.Asp103Tyr)	SLC16A11 (D103Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403788	NM_001370549.1(SLC16A11):c.281G>A (p.Gly94Asp)	SLC16A11 (G94D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508961	NM_001370549.1(SLC16A11):c.247G>T (p.Val83Leu)	SLC16A11 (V83L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2618123	NM_001370549.1(SLC16A11):c.209T>C (p.Val70Ala)	SLC16A11 (V70A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408386	NM_001370549.1(SLC16A11):c.205C>T (p.Pro69Ser)	SLC16A11 (P69S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478752	NM_001370549.1(SLC16A11):c.130G>A (p.Glu44Lys)	SLC16A11 (E44K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339781	NM_001370549.1(SLC16A11):c.79C>G (p.Leu27Val)	SLC16A11 (L27V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509691	NM_001370549.1(SLC16A11):c.5C>T (p.Thr2Ile)	SLC16A11 (T2I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 31