"Genome-Nilou Lab"[submitter] AND "SLC22A5"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 350806	NM_003060.4(SLC22A5):c.-207C>G	LOC129994569, MIR3936HG +1 more	Single nucleotide variant (5 prime UTR variant)	Renal carnitine transport defect +1 more	GBenign
Select item 25340	NM_003060.4(SLC22A5):c.-149G>A	LOC129994569, MIR3936HG +1 more	Single nucleotide variant (5 prime UTR variant)	Renal carnitine transport defect +1 more	GConflicting classifications of pathogenicity
Select item 25342	NM_003060.4(SLC22A5):c.-78C>T	LOC129994569, MIR3936HG +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GBenign
Select item 25343	NM_003060.4(SLC22A5):c.-77G>A	LOC129994569, MIR3936HG +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GBenign
Select item 506453	NM_003060.4(SLC22A5):c.-26G>A	SLC22A5	Single nucleotide variant (5 prime UTR variant)	Renal carnitine transport defect +1 more	GConflicting classifications of pathogenicity
Select item 350811	NM_003060.4(SLC22A5):c.-25C>T	SLC22A5	Single nucleotide variant (5 prime UTR variant)	Renal carnitine transport defect	GUncertain significance
Select item 25347	NM_003060.4(SLC22A5):c.12C>G (p.Tyr4Ter)	SLC22A5 (Y4*)	Single nucleotide variant (nonsense)	Renal carnitine transport defect +1 more	GPathogenic/Likely pathogenic
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 285771	NM_003060.4(SLC22A5):c.35G>A (p.Gly12Asp)	SLC22A5 (G12D)	Single nucleotide variant (missense variant)	Renal carnitine transport defect +1 more	GUncertain significance
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 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 595954	NM_003060.4(SLC22A5):c.56_57delinsCT (p.Arg19Pro)	SLC22A5 (R19P)	Indel (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 25351	NM_003060.4(SLC22A5):c.56G>C (p.Arg19Pro)	SLC22A5	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 25353	NM_003060.4(SLC22A5):c.64TTC[1] (p.Phe23del)	SLC22A5 (F23del)	Microsatellite (inframe_deletion)	Renal carnitine transport defect +1 more	GPathogenic
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 25354	NM_003060.4(SLC22A5):c.83G>T (p.Ser28Ile)	SLC22A5	Single nucleotide variant (missense variant)	Renal carnitine transport defect +1 more	GPathogenic
Select item 25355	NM_003060.4(SLC22A5):c.95A>G (p.Asn32Ser)	SLC22A5	Single nucleotide variant (missense variant)	not specified +2 more	GPathogenic
Select item 907482	NM_003060.4(SLC22A5):c.118G>A (p.Val40Met)	SLC22A5 (V40M)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 573546	NM_003060.4(SLC22A5):c.131C>T (p.Ala44Val)	SLC22A5 (A44V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 25357	NM_003060.4(SLC22A5):c.137C>T (p.Pro46Leu)	SLC22A5	Single nucleotide variant (missense variant)	Renal carnitine transport defect +1 more	GConflicting classifications of pathogenicity
Select item 38795	NM_003060.4(SLC22A5):c.148del (p.Cys50fs)	SLC22A5 (C50fs)	Deletion (frameshift variant)	Renal carnitine transport defect	GPathogenic/Likely pathogenic
Select item 370825	NM_003060.4(SLC22A5):c.160_166dup (p.Ala56fs)	SLC22A5 (A56fs)	Duplication (frameshift variant)	Renal carnitine transport defect	GPathogenic/Likely pathogenic
Select item 418492	NM_003060.4(SLC22A5):c.202C>T (p.Pro68Ser)	SLC22A5 (P68S)	Single nucleotide variant (missense variant)	Renal carnitine transport defect +1 more	GConflicting classifications of pathogenicity
Select item 809799	NM_003060.4(SLC22A5):c.217G>C (p.Asp73His)	SLC22A5 (D73H)	Single nucleotide variant (missense variant)	Renal carnitine transport defect +1 more	GUncertain significance
Select item 860218	NM_003060.4(SLC22A5):c.232C>T (p.Pro78Ser)	SLC22A5 (P78S)	Single nucleotide variant (missense variant)	Renal carnitine transport defect +1 more	GUncertain significance
Select item 25359	NM_003060.4(SLC22A5):c.235del (p.His79fs)	SLC22A5 (H79fs)	Deletion (frameshift variant)	Renal carnitine transport defect	GPathogenic
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 38790	NM_003060.4(SLC22A5):c.254_264dup (p.Ile89fs)	SLC22A5 (I89fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
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 460406	NM_003060.4(SLC22A5):c.279G>C (p.Ser93=)	SLC22A5	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 94099	NM_003060.4(SLC22A5):c.285T>C (p.Leu95=)	SLC22A5	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
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 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 25370	NM_003060.4(SLC22A5):c.344A>G (p.Asp115Gly)	SLC22A5	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 94100	NM_003060.4(SLC22A5):c.349T>C (p.Trp117Arg)	SLC22A5 (W117R)	Single nucleotide variant (missense variant)	Renal carnitine transport defect +1 more	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 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 664649	NM_003060.4(SLC22A5):c.377C>A (p.Ser126Tyr)	SLC22A5 (S126Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 371182	NM_003060.4(SLC22A5):c.393+1G>A	SLC22A5	Single nucleotide variant (splice donor variant)	Renal carnitine transport defect	GPathogenic/Likely pathogenic
Select item 25366	NM_003060.4(SLC22A5):c.393+17G>A	SLC22A5	Single nucleotide variant (intron variant)	Renal carnitine transport defect +1 more	GBenign
Select item 671627	NM_003060.4(SLC22A5):c.394-296C>T	SLC22A5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 460407	NM_003060.4(SLC22A5):c.394-16T>A	SLC22A5	Single nucleotide variant (intron variant)	Renal carnitine transport defect +1 more	GConflicting classifications of pathogenicity
Select item 6411	NM_003060.4(SLC22A5):c.396G>A (p.Trp132Ter)	SLC22A5 (W132* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 25377	NM_003060.4(SLC22A5):c.414C>T (p.Asp138=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect +1 more	GConflicting classifications of pathogenicity
Select item 25372	NM_003060.4(SLC22A5):c.424G>T (p.Ala142Ser)	SLC22A5 (A166S)	Single nucleotide variant (missense variant)	Renal carnitine transport defect +1 more	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 25374	NM_003060.4(SLC22A5):c.451G>A (p.Val151Met)	SLC22A5 (V175M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 25375	NM_003060.4(SLC22A5):c.453G>A (p.Val151=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GConflicting classifications of pathogenicity
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 25376	NM_003060.4(SLC22A5):c.458_459del (p.Val153fs)	SLC22A5 (V153fs +1 more)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 6422	NM_003060.4(SLC22A5):c.505C>T (p.Arg169Trp)	SLC22A5 (R169W +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GPathogenic/Likely pathogenic
Select item 6421	NM_003060.4(SLC22A5):c.506G>A (p.Arg169Gln)	SLC22A5 (R169Q +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect +1 more	GPathogenic
Select item 350812	NM_003060.4(SLC22A5):c.522C>T (p.Phe174=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GConflicting classifications of pathogenicity
Select item 285602	NM_003060.4(SLC22A5):c.523G>A (p.Val175Met)	SLC22A5 (V175M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 840026	NM_003060.4(SLC22A5):c.530T>C (p.Met177Thr)	SLC22A5 (M201T +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
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 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 6420	NM_003060.4(SLC22A5):c.632A>G (p.Tyr211Cys)	SLC22A5 (Y211C +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect +1 more	GPathogenic/Likely pathogenic
Select item 1217323	NM_003060.4(SLC22A5):c.637G>A (p.Ala213Thr)	SLC22A5 (A213T +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect +1 more	GUncertain significance
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 25381	NM_003060.4(SLC22A5):c.652+1G>A	SLC22A5	Single nucleotide variant (splice donor variant)	Renal carnitine transport defect +1 more	GPathogenic
Select item 25382	NM_003060.4(SLC22A5):c.652+6=	SLC22A5	Single nucleotide variant (intron variant)	Renal carnitine transport defect +2 more	GBenign
Select item 25383	NM_003060.4(SLC22A5):c.652+77A>G	SLC22A5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 25384	NM_003060.4(SLC22A5):c.653-2A>C	SLC22A5	Single nucleotide variant (splice acceptor variant)	Renal carnitine transport defect	GPathogenic/Likely pathogenic
Select item 378583	NM_003060.4(SLC22A5):c.680G>A (p.Arg227His)	SLC22A5 (R227H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1209793	NM_003060.4(SLC22A5):c.693T>C (p.Ser231=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GUncertain significance
Select item 25386	NM_003060.4(SLC22A5):c.695C>T (p.Thr232Met)	SLC22A5 (T256M)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 25387	NM_003060.4(SLC22A5):c.725G>T (p.Gly242Val)	SLC22A5 (G266V)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GConflicting classifications of pathogenicity
Select item 460415	NM_003060.4(SLC22A5):c.760C>A (p.Arg254=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GConflicting classifications of pathogenicity
Select item 6426	NM_003060.4(SLC22A5):c.760C>T (p.Arg254Ter)	SLC22A5 (R254* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 25389	NM_003060.4(SLC22A5):c.761G>A (p.Arg254Gln)	SLC22A5 (R278Q)	Single nucleotide variant (missense variant)	Renal carnitine transport defect +2 more	GConflicting classifications of pathogenicity
Select item 350813	NM_003060.4(SLC22A5):c.763G>A (p.Asp255Asn)	SLC22A5 (D255N +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 25392	NM_003060.4(SLC22A5):c.806del (p.Leu269fs)	SLC22A5 (L293fs +1 more)	Deletion (frameshift variant)	Renal carnitine transport defect +1 more	GPathogenic/Likely pathogenic
Select item 94101	NM_003060.4(SLC22A5):c.807A>G (p.Leu269=)	SLC22A5	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 579761	NM_003060.4(SLC22A5):c.811G>A (p.Val271Met)	SLC22A5 (V271M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 94102	NM_003060.4(SLC22A5):c.824+13T>C	SLC22A5	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 25399	NM_003060.4(SLC22A5):c.844del (p.Arg282fs)	SLC22A5 (R282fs +1 more)	Deletion (frameshift variant)	Renal carnitine transport defect	GPathogenic
Select item 6416	NM_003060.4(SLC22A5):c.844C>T (p.Arg282Ter)	SLC22A5 (R282* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 25401	NM_003060.4(SLC22A5):c.845G>A (p.Arg282Gln)	SLC22A5 (R306Q)	Single nucleotide variant (missense variant)	Renal carnitine transport defect +2 more	GPathogenic
Select item 390633	NM_003060.4(SLC22A5):c.852C>T (p.Leu284=)	SLC22A5	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 25404	NM_003060.4(SLC22A5):c.865C>T (p.Arg289Ter)	SLC22A5 (R289* +1 more)	Single nucleotide variant (nonsense)	Renal carnitine transport defect	GPathogenic
Select item 575908	NM_003060.4(SLC22A5):c.875A>T (p.Glu292Val)	SLC22A5 (E292V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 581353	NM_003060.4(SLC22A5):c.892C>T (p.Arg298Cys)	SLC22A5 (R298C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 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 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 25407	NM_003060.4(SLC22A5):c.1043T>C (p.Ile348Thr)	SLC22A5 (I372T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 429518	NM_003060.4(SLC22A5):c.1052+5G>A	SLC22A5	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1174067	NM_003060.4(SLC22A5):c.1052+101A>G	SLC22A5	Single nucleotide variant (intron variant)	Renal carnitine transport defect +1 more	GBenign/Likely benign
Select item 381975	NM_003060.4(SLC22A5):c.1053-3C>T	SLC22A5	Single nucleotide variant (intron variant)	Renal carnitine transport defect +1 more	GConflicting classifications of pathogenicity
Select item 203929	NM_003060.4(SLC22A5):c.1053-2A>C	SLC22A5	Single nucleotide variant (splice acceptor variant)	Renal carnitine transport defect +2 more	GPathogenic/Likely pathogenic
Select item 372506	NM_003060.4(SLC22A5):c.1078_1083dup (p.Gly360_Leu361dup)	SLC22A5	Duplication (inframe_insertion)	Renal carnitine transport defect +2 more	GConflicting classifications of pathogenicity
Select item 813361	NM_003060.4(SLC22A5):c.1084del (p.Ser362fs)	SLC22A5 (S362fs +1 more)	Deletion (frameshift variant)	Renal carnitine transport defect	GPathogenic/Likely pathogenic
Select item 281066	NM_003060.4(SLC22A5):c.1085C>T (p.Ser362Leu)	SLC22A5 (S362L +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect +1 more	GConflicting classifications of pathogenicity

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