C0342788[trait identifier] AND "Women's Health and Genetics/Laboratory - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 25340	NM_003060.4(SLC22A5):c.-149G>A	LOC129994569, MIR3936HG +1 more	Single nucleotide variant (5 prime UTR variant)	SLC22A5-related condition +2 more	GConflicting classifications of pathogenicity
Select item 25341	NM_003060.4(SLC22A5):c.-91_22del (p.Met1fs)	LOC129994569, MIR3936HG +1 more (M1fs)	Deletion (frameshift variant +1 more)	Renal carnitine transport defect	GLikely pathogenic
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 25347	NM_003060.4(SLC22A5):c.12C>G (p.Tyr4Ter)	SLC22A5 (Y4*)	Single nucleotide variant (nonsense)	SLC22A5-related condition +1 more	GPathogenic/Likely pathogenic
Select item 25349	NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser)	SLC22A5	Single nucleotide variant (missense variant)	not specified +1 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 25350	NM_003060.4(SLC22A5):c.51C>G (p.Phe17Leu)	SLC22A5	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 25352	NM_003060.4(SLC22A5):c.59T>A (p.Leu20His)	SLC22A5	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 25353	NM_003060.4(SLC22A5):c.64TTC[1] (p.Phe23del)	SLC22A5 (F23del)	Microsatellite (inframe_deletion)	not provided +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 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)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 25359	NM_003060.4(SLC22A5):c.235del (p.His79fs)	SLC22A5 (H79fs)	Deletion (frameshift variant)	Renal carnitine transport defect	GPathogenic
Select item 25360	NM_003060.4(SLC22A5):c.246C>T (p.Arg82=)	SLC22A5	Single nucleotide variant (synonymous variant)	SLC22A5-related condition +4 more	GLikely benign
Select item 25361	NM_003060.4(SLC22A5):c.248G>T (p.Arg83Leu)	SLC22A5	Single nucleotide variant (missense variant)	not provided +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 2501139	NM_003060.4(SLC22A5):c.278C>A (p.Ser93Ter)	SLC22A5 (S93*)	Single nucleotide variant (nonsense)	Renal carnitine transport defect	GLikely pathogenic
Select item 94099	NM_003060.4(SLC22A5):c.285T>C (p.Leu95=)	SLC22A5	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 25364	NM_003060.4(SLC22A5):c.287G>C (p.Gly96Ala)	SLC22A5	Single nucleotide variant (missense variant)	not specified +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 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 25366	NM_003060.4(SLC22A5):c.393+17G>A	SLC22A5	Single nucleotide variant (intron variant)	not specified +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)	Renal carnitine transport defect	GPathogenic/Likely pathogenic
Select item 25372	NM_003060.4(SLC22A5):c.424G>T (p.Ala142Ser)	SLC22A5 (A166S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 440273	NM_003060.4(SLC22A5):c.428C>T (p.Pro143Leu)	SLC22A5 (P143L +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect +1 more	GConflicting classifications of pathogenicity
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)	not provided +1 more	GPathogenic
Select item 379230	NM_003060.4(SLC22A5):c.529A>G (p.Met177Val)	SLC22A5 (M177V +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 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 38279	NM_003060.4(SLC22A5):c.641C>T (p.Ala214Val)	SLC22A5 (A214V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 25381	NM_003060.4(SLC22A5):c.652+1G>A	SLC22A5	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 25382	NM_003060.4(SLC22A5):c.652+6=	SLC22A5	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1486807	NM_003060.4(SLC22A5):c.694A>G (p.Thr232Ala)	SLC22A5 (T232A +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 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 6426	NM_003060.4(SLC22A5):c.760C>T (p.Arg254Ter)	SLC22A5 (R254* +1 more)	Single nucleotide variant (nonsense)	Renal carnitine transport defect +2 more	GPathogenic
Select item 25389	NM_003060.4(SLC22A5):c.761G>A (p.Arg254Gln)	SLC22A5 (R278Q)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 460416	NM_003060.4(SLC22A5):c.791C>G (p.Thr264Arg)	SLC22A5 (T264R +1 more)	Single nucleotide variant (missense variant)	SLC22A5-related condition +2 more	GPathogenic/Likely pathogenic
Select item 25392	NM_003060.4(SLC22A5):c.806del (p.Leu269fs)	SLC22A5 (L293fs +1 more)	Deletion (frameshift variant)	not provided +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 94102	NM_003060.4(SLC22A5):c.824+13T>C	SLC22A5	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 25397	NM_003060.4(SLC22A5):c.825G>A (p.Trp275Ter)	SLC22A5 (W275* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
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 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 1459138	NM_003060.4(SLC22A5):c.902C>A (p.Ala301Asp)	SLC22A5 (A325D)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GPathogenic
Select item 1343563	NM_003060.4(SLC22A5):c.932C>G (p.Thr311Ser)	SLC22A5 (T311S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 381879	NM_003060.4(SLC22A5):c.934A>G (p.Ile312Val)	SLC22A5 (I312V +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1698611	NM_003060.4(SLC22A5):c.949G>A (p.Glu317Lys)	SLC22A5 (E317K +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect +1 more	GUncertain significance
Select item 971074	NM_003060.4(SLC22A5):c.1006C>T (p.Arg336Ter)	SLC22A5 (R336* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 203929	NM_003060.4(SLC22A5):c.1053-2A>C	SLC22A5	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 651951	NM_003060.4(SLC22A5):c.1072T>A (p.Tyr358Asn)	SLC22A5 (Y358N +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GPathogenic/Likely pathogenic
Select item 460390	NM_003060.4(SLC22A5):c.1125C>T (p.Asn375=)	SLC22A5	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 553624	NM_003060.4(SLC22A5):c.1139C>T (p.Ala380Val)	SLC22A5 (A380V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 25410	NM_003060.4(SLC22A5):c.1175TGC[2] (p.Leu394del)	SLC22A5 (L394del +1 more)	Microsatellite (inframe_deletion)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 6427	NM_003060.4(SLC22A5):c.1195C>T (p.Arg399Trp)	SLC22A5 (R399W +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect +1 more	GPathogenic/Likely pathogenic
Select item 6424	NM_003060.4(SLC22A5):c.1196G>A (p.Arg399Gln)	SLC22A5 (R399Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 460395	NM_003060.4(SLC22A5):c.1249A>G (p.Met417Val)	SLC22A5 (M417V +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect +2 more	GBenign/Likely benign
Select item 25416	NM_003060.4(SLC22A5):c.1319C>T (p.Thr440Met)	SLC22A5 (T464M)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 25418	NM_003060.4(SLC22A5):c.1340A>G (p.Tyr447Cys)	SLC22A5 (Y471C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 25420	NM_003060.4(SLC22A5):c.1345T>G (p.Tyr449Asp)	SLC22A5 (Y473D)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 25421	NM_003060.4(SLC22A5):c.1354G>A (p.Glu452Lys)	SLC22A5 (E476K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 655449	NM_003060.4(SLC22A5):c.1364C>G (p.Pro455Arg)	SLC22A5 (P455R +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect +1 more	GConflicting classifications of pathogenicity
Select item 384573	NM_003060.4(SLC22A5):c.1368A>G (p.Thr456=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect +2 more	GBenign
Select item 25423	NM_003060.4(SLC22A5):c.1400C>G (p.Ser467Cys)	SLC22A5 (S491C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 25424	NM_003060.4(SLC22A5):c.1403C>G (p.Thr468Arg)	SLC22A5 (T492R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 460398	NM_003060.4(SLC22A5):c.1411C>T (p.Arg471Cys)	SLC22A5 (R471C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 25426	NM_003060.4(SLC22A5):c.1412G>A (p.Arg471His)	SLC22A5 (R495H)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GPathogenic/Likely pathogenic
Select item 384574	NM_003060.4(SLC22A5):c.1434C>T (p.Pro478=)	SLC22A5	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 384575	NM_003060.4(SLC22A5):c.1451-16G>A	SLC22A5	Single nucleotide variant (intron variant)	Renal carnitine transport defect +1 more	GBenign/Likely benign
Select item 203931	NM_003060.4(SLC22A5):c.1451G>T (p.Gly484Val)	SLC22A5 (G484V +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 38794	NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His)	SLC22A5 (R488H +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 25429	NM_003060.4(SLC22A5):c.1556_1559dup (p.Ile521fs)	SLC22A5 (I521fs +1 more)	Microsatellite (frameshift variant)	Renal carnitine transport defect	GPathogenic/Likely pathogenic
Select item 460403	NM_003060.4(SLC22A5):c.1590G>T (p.Met530Ile)	SLC22A5 (M530I +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 25432	NM_003060.4(SLC22A5):c.1645C>T (p.Pro549Ser)	SLC22A5 (P573S)	Single nucleotide variant (missense variant)	SLC22A5-related condition +2 more	GBenign/Likely benign

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Items: 79