C0342788[trait identifier] AND "Giacomini Lab, University of Californi - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 990991	NM_003060.4(SLC22A5):c.4C>G (p.Arg2Gly)	SLC22A5 (R2G)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707675	NM_003060.4(SLC22A5):c.5G>C (p.Arg2Pro)	SLC22A5 (R2P)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 655992	NM_003060.4(SLC22A5):c.26C>T (p.Ala9Val)	SLC22A5 (A9V)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1516651	NM_003060.4(SLC22A5):c.28T>C (p.Phe10Leu)	SLC22A5 (F10L)	Single nucleotide variant (missense variant)	Renal carnitine transport defect +1 more	GUncertain significance
Select item 25349	NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser)	SLC22A5	Single nucleotide variant (missense variant)	Renal carnitine transport defect +3 more	GConflicting classifications of pathogenicity
Select item 6429	NM_003060.4(SLC22A5):c.43G>T (p.Gly15Trp)	SLC22A5 (G15W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1065994	NM_003060.4(SLC22A5):c.44G>A (p.Gly15Glu)	SLC22A5 (G15E)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GConflicting classifications of pathogenicity
Select item 25350	NM_003060.4(SLC22A5):c.51C>G (p.Phe17Leu)	SLC22A5	Single nucleotide variant (missense variant)	Renal carnitine transport defect +1 more	GPathogenic
Select item 25352	NM_003060.4(SLC22A5):c.59T>A (p.Leu20His)	SLC22A5	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 379259	NM_003060.4(SLC22A5):c.77G>A (p.Ser26Asn)	SLC22A5 (S26N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1707672	NM_003060.4(SLC22A5):c.84C>G (p.Ser28Arg)	SLC22A5 (S28R)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707691	NM_003060.4(SLC22A5):c.103A>G (p.Thr35Ala)	SLC22A5 (T35A)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GLikely benign
Select item 1354484	NM_003060.4(SLC22A5):c.115T>G (p.Ser39Ala)	SLC22A5 (S39A)	Single nucleotide variant (missense variant)	Renal carnitine transport defect +1 more	GConflicting classifications of pathogenicity
Select item 575694	NM_003060.4(SLC22A5):c.122T>G (p.Phe41Cys)	SLC22A5 (F41C)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 193250	NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser)	SLC22A5 (P46S)	Single nucleotide variant (missense variant)	Renal carnitine transport defect +2 more	GPathogenic/Likely pathogenic
Select item 1707673	NM_003060.4(SLC22A5):c.158C>G (p.Pro53Arg)	SLC22A5 (P53R)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707654	NM_003060.4(SLC22A5):c.164C>T (p.Ala55Val)	SLC22A5 (A55V)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GLikely benign
Select item 1491545	NM_003060.4(SLC22A5):c.171C>G (p.Asn57Lys)	SLC22A5 (N57K)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707684	NM_003060.4(SLC22A5):c.172C>G (p.Leu58Val)	SLC22A5 (L58V)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707665	NM_003060.4(SLC22A5):c.177C>G (p.Ser59Arg)	SLC22A5 (S59R)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707686	NM_003060.4(SLC22A5):c.182C>T (p.Ala61Val)	SLC22A5 (A61V)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707680	NM_003060.4(SLC22A5):c.191A>T (p.Asn64Ile)	SLC22A5 (N64I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1707688	NM_003060.4(SLC22A5):c.194A>T (p.His65Leu)	SLC22A5 (H65L)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1366081	NM_003060.4(SLC22A5):c.197C>T (p.Thr66Ile)	SLC22A5 (T66I)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GConflicting classifications of pathogenicity
Select item 1707645	NM_003060.4(SLC22A5):c.217G>A (p.Asp73Asn)	SLC22A5 (D73N)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707677	NM_003060.4(SLC22A5):c.220G>C (p.Gly74Arg)	SLC22A5 (G74R)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707685	NM_003060.4(SLC22A5):c.223C>A (p.Arg75Ser)	SLC22A5 (R75S)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707695	NM_003060.4(SLC22A5):c.235C>A (p.His79Asn)	SLC22A5 (H79N)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707702	NM_003060.4(SLC22A5):c.245G>T (p.Arg82Leu)	SLC22A5 (R82L)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 25361	NM_003060.4(SLC22A5):c.248G>T (p.Arg83Leu)	SLC22A5	Single nucleotide variant (missense variant)	Renal carnitine transport defect +1 more	GConflicting classifications of pathogenicity
Select item 1026131	NM_003060.4(SLC22A5):c.254G>A (p.Arg85Gln)	SLC22A5 (R85Q)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707659	NM_003060.4(SLC22A5):c.269C>T (p.Ala90Val)	SLC22A5 (A90V)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GLikely benign
Select item 460405	NM_003060.4(SLC22A5):c.272A>G (p.Asn91Ser)	SLC22A5 (N91S)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1707670	NM_003060.4(SLC22A5):c.274T>G (p.Phe92Val)	SLC22A5 (F92V)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707692	NM_003060.4(SLC22A5):c.281C>T (p.Ala94Val)	SLC22A5 (A94V)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 25364	NM_003060.4(SLC22A5):c.287G>C (p.Gly96Ala)	SLC22A5	Single nucleotide variant (missense variant)	Renal carnitine transport defect +2 more	GConflicting classifications of pathogenicity
Select item 1707687	NM_003060.4(SLC22A5):c.289C>G (p.Leu97Val)	SLC22A5 (L97V)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707653	NM_003060.4(SLC22A5):c.289C>A (p.Leu97Met)	SLC22A5 (L97M)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707679	NM_003060.4(SLC22A5):c.304G>A (p.Asp102Asn)	SLC22A5 (D102N)	Single nucleotide variant (missense variant)	Renal carnitine transport defect +1 more	GUncertain significance
Select item 1039890	NM_003060.4(SLC22A5):c.325G>C (p.Glu109Gln)	SLC22A5 (E109Q)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 167696	NM_003060.4(SLC22A5):c.338G>A (p.Cys113Tyr)	SLC22A5 (C113Y)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1707667	NM_003060.4(SLC22A5):c.341T>C (p.Leu114Pro)	SLC22A5 (L114P)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 649879	NM_003060.4(SLC22A5):c.363G>T (p.Gln121His)	SLC22A5 (Q121H)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 25371	NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr)	SLC22A5	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 968989	NM_003060.4(SLC22A5):c.368T>G (p.Val123Gly)	SLC22A5 (V123G)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 809800	NM_003060.4(SLC22A5):c.371A>G (p.Tyr124Cys)	SLC22A5 (Y124C)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1429538	NM_003060.4(SLC22A5):c.391G>A (p.Glu131Lys)	SLC22A5 (E131K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1002557	NM_003060.4(SLC22A5):c.397A>C (p.Asn133His)	SLC22A5 (N133H +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1021133	NM_003060.4(SLC22A5):c.412G>T (p.Asp138Tyr)	SLC22A5 (D138Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 581208	NM_003060.4(SLC22A5):c.415G>A (p.Asp139Asn)	SLC22A5 (D139N +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GConflicting classifications of pathogenicity
Select item 440273	NM_003060.4(SLC22A5):c.428C>T (p.Pro143Leu)	SLC22A5 (P143L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 25373	NM_003060.4(SLC22A5):c.430C>T (p.Leu144Phe)	SLC22A5 (L168F)	Single nucleotide variant (missense variant)	Renal carnitine transport defect +2 more	GBenign/Likely benign
Select item 460408	NM_003060.4(SLC22A5):c.455G>A (p.Gly152Asp)	SLC22A5 (G152D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 1707701	NM_003060.4(SLC22A5):c.475A>C (p.Ile159Leu)	SLC22A5 (I159L +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707694	NM_003060.4(SLC22A5):c.476T>C (p.Ile159Thr)	SLC22A5 (I159T +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707690	NM_003060.4(SLC22A5):c.496A>G (p.Arg166Gly)	SLC22A5 (R166G +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 379230	NM_003060.4(SLC22A5):c.529A>G (p.Met177Val)	SLC22A5 (M177V +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect +2 more	GConflicting classifications of pathogenicity
Select item 576364	NM_003060.4(SLC22A5):c.538C>G (p.Gln180Glu)	SLC22A5 (Q180E +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GConflicting classifications of pathogenicity
Select item 1707651	NM_003060.4(SLC22A5):c.544G>T (p.Gly182Cys)	SLC22A5 (G182C +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707700	NM_003060.4(SLC22A5):c.545G>T (p.Gly182Val)	SLC22A5 (G182V +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GLikely benign
Select item 38287	NM_003060.4(SLC22A5):c.557T>C (p.Leu186Pro)	SLC22A5 (L186P +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GConflicting classifications of pathogenicity
Select item 1707650	NM_003060.4(SLC22A5):c.562A>G (p.Ile188Val)	SLC22A5 (I188V +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GLikely benign
Select item 288732	NM_003060.4(SLC22A5):c.572A>G (p.Lys191Arg)	SLC22A5 (K191R +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect +1 more	GConflicting classifications of pathogenicity
Select item 514792	NM_003060.4(SLC22A5):c.573G>T (p.Lys191Asn)	SLC22A5 (K191N +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect +1 more	GLikely benign
Select item 1707646	NM_003060.4(SLC22A5):c.575A>G (p.Asn192Ser)	SLC22A5 (N192S +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GConflicting classifications of pathogenicity
Select item 633467	NM_003060.4(SLC22A5):c.592G>T (p.Val198Leu)	SLC22A5 (V198L +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GConflicting classifications of pathogenicity
Select item 460410	NM_003060.4(SLC22A5):c.605T>C (p.Leu202Pro)	SLC22A5 (L202P +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1005556	NM_003060.4(SLC22A5):c.613A>C (p.Met205Leu)	SLC22A5 (M205L +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 38276	NM_003060.4(SLC22A5):c.629A>G (p.Asn210Ser)	SLC22A5 (N234S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1686196	NM_003060.4(SLC22A5):c.631T>C (p.Tyr211His)	SLC22A5 (Y211H +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GPathogenic/Likely pathogenic
Select item 38279	NM_003060.4(SLC22A5):c.641C>T (p.Ala214Val)	SLC22A5 (A214V +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect +1 more	GConflicting classifications of pathogenicity
Select item 1707669	NM_003060.4(SLC22A5):c.646G>C (p.Val216Leu)	SLC22A5 (V216L +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707671	NM_003060.4(SLC22A5):c.679C>A (p.Arg227Ser)	SLC22A5 (R227S +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GLikely pathogenic
Select item 1707652	NM_003060.4(SLC22A5):c.685A>C (p.Ile229Leu)	SLC22A5 (I229L +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GConflicting classifications of pathogenicity
Select item 1707648	NM_003060.4(SLC22A5):c.686T>C (p.Ile229Thr)	SLC22A5 (I229T +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707678	NM_003060.4(SLC22A5):c.700G>C (p.Gly234Arg)	SLC22A5 (G234R +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GConflicting classifications of pathogenicity
Select item 1707668	NM_003060.4(SLC22A5):c.704T>G (p.Val235Gly)	SLC22A5 (V235G +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 575922	NM_003060.4(SLC22A5):c.706T>C (p.Cys236Arg)	SLC22A5 (C236R +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 835927	NM_003060.4(SLC22A5):c.728A>C (p.Tyr243Ser)	SLC22A5 (Y243S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 25391	NM_003060.4(SLC22A5):c.769C>T (p.Arg257Trp)	SLC22A5 (R281W)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GConflicting classifications of pathogenicity
Select item 645726	NM_003060.4(SLC22A5):c.770G>A (p.Arg257Gln)	SLC22A5 (R257Q +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 460416	NM_003060.4(SLC22A5):c.791C>G (p.Thr264Arg)	SLC22A5 (T264R +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect +1 more	GPathogenic/Likely pathogenic
Select item 846688	NM_003060.4(SLC22A5):c.797C>T (p.Pro266Leu)	SLC22A5 (P290L +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GConflicting classifications of pathogenicity
Select item 1707682	NM_003060.4(SLC22A5):c.800G>C (p.Gly267Ala)	SLC22A5 (G267A +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect +1 more	GUncertain significance
Select item 555629	NM_003060.4(SLC22A5):c.800G>A (p.Gly267Glu)	SLC22A5 (G267E +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707662	NM_003060.4(SLC22A5):c.814G>C (p.Ala272Pro)	SLC22A5 (A272P +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GLikely benign
Select item 1384136	NM_003060.4(SLC22A5):c.825G>T (p.Trp275Cys)	SLC22A5 (W275C +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1063923	NM_003060.4(SLC22A5):c.850C>T (p.Leu284Phe)	SLC22A5 (L284F +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1042602	NM_003060.4(SLC22A5):c.853A>T (p.Ile285Phe)	SLC22A5 (I285F +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707683	NM_003060.4(SLC22A5):c.866G>A (p.Arg289Gln)	SLC22A5 (R289Q +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707697	NM_003060.4(SLC22A5):c.892C>G (p.Arg298Gly)	SLC22A5 (R298G +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707649	NM_003060.4(SLC22A5):c.902C>G (p.Ala301Gly)	SLC22A5 (A301G +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GConflicting classifications of pathogenicity
Select item 460419	NM_003060.4(SLC22A5):c.904A>G (p.Lys302Glu)	SLC22A5 (K302E +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GConflicting classifications of pathogenicity
Select item 1707657	NM_003060.4(SLC22A5):c.934A>C (p.Ile312Leu)	SLC22A5 (I312L +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GLikely benign
Select item 381879	NM_003060.4(SLC22A5):c.934A>G (p.Ile312Val)	SLC22A5 (I312V +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect +2 more	GConflicting classifications of pathogenicity
Select item 859217	NM_003060.4(SLC22A5):c.961C>G (p.Leu321Val)	SLC22A5 (L321V +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707699	NM_003060.4(SLC22A5):c.1000C>G (p.Leu334Val)	SLC22A5 (L334V +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 529850	NM_003060.4(SLC22A5):c.1010C>T (p.Thr337Ile)	SLC22A5 (T337I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1707689	NM_003060.4(SLC22A5):c.1016A>G (p.Asn339Ser)	SLC22A5 (N339S +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707696	NM_003060.4(SLC22A5):c.1018A>T (p.Ile340Phe)	SLC22A5 (I340F +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance

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