"Baylor Genetics"[submitter] AND "SLC22A5"[gene] - ClinVar - NCBI

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	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)	Renal carnitine transport defect +1 more	GConflicting classifications of pathogenicity
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 203933	NM_003060.4(SLC22A5):c.42G>A (p.Trp14Ter)	SLC22A5 (W14*)	Single nucleotide variant (nonsense)	Renal carnitine transport defect +1 more	GPathogenic/Likely pathogenic
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 558416	NM_003060.4(SLC22A5):c.52del (p.Gln18fs)	SLC22A5 (Q18fs)	Deletion (frameshift variant)	Renal carnitine transport defect	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 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 25353	NM_003060.4(SLC22A5):c.64TTC[1] (p.Phe23del)	SLC22A5 (F23del)	Microsatellite (inframe_deletion)	Renal carnitine transport defect +1 more	GPathogenic
Select item 423731	NM_003060.4(SLC22A5):c.71del (p.Leu24fs)	SLC22A5 (L24fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 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 2678800	NM_003060.4(SLC22A5):c.136_137dup (p.Glu47fs)	SLC22A5 (E47fs)	Duplication (frameshift variant)	Renal carnitine transport defect	GLikely pathogenic
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 370825	NM_003060.4(SLC22A5):c.160_166dup (p.Ala56fs)	SLC22A5 (A56fs)	Duplication (frameshift variant)	Renal carnitine transport defect	GPathogenic/Likely pathogenic
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 2678787	NM_003060.4(SLC22A5):c.280_283dup (p.Leu95fs)	SLC22A5 (L95fs)	Microsatellite (frameshift variant)	Renal carnitine transport defect	GLikely pathogenic
Select item 3240474	NM_003060.4(SLC22A5):c.292G>T (p.Glu98Ter)	SLC22A5 (E98*)	Single nucleotide variant (nonsense)	Renal carnitine transport defect	GLikely pathogenic
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 2678805	NM_003060.4(SLC22A5):c.384dup (p.Val129fs)	SLC22A5 (V129fs)	Duplication (frameshift variant)	Renal carnitine transport defect	GLikely pathogenic
Select item 2671907	NM_003060.4(SLC22A5):c.394-151C>G	SLC22A5 (P153A)	Single nucleotide variant (missense variant +1 more)	Renal carnitine transport defect	GUncertain significance
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 2678796	NM_003060.4(SLC22A5):c.394-2A>G	SLC22A5	Single nucleotide variant (splice acceptor variant)	Renal carnitine transport defect	GLikely pathogenic
Select item 371227	NM_003060.4(SLC22A5):c.394-1G>T	SLC22A5	Single nucleotide variant (splice acceptor variant)	Renal carnitine transport defect	GPathogenic/Likely pathogenic
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 2678803	NM_003060.4(SLC22A5):c.408_409dup (p.Glu137fs)	SLC22A5 (E137fs +1 more)	Microsatellite (frameshift variant)	Renal carnitine transport defect	GLikely pathogenic
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 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 2678801	NM_003060.4(SLC22A5):c.497+1G>A	SLC22A5	Single nucleotide variant (splice donor variant)	Renal carnitine transport defect	GPathogenic/Likely pathogenic
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 2678790	NM_003060.4(SLC22A5):c.517del (p.Leu173fs)	SLC22A5 (L173fs +1 more)	Deletion (frameshift variant)	Renal carnitine transport defect	GPathogenic
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 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 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 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 2678798	NM_003060.4(SLC22A5):c.678del (p.Arg227fs)	SLC22A5 (R227fs +1 more)	Deletion (frameshift variant)	Renal carnitine transport defect	GLikely 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 460412	NM_003060.4(SLC22A5):c.688T>C (p.Phe230Leu)	SLC22A5 (F230L +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GPathogenic/Likely pathogenic
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 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 1458254	NM_003060.4(SLC22A5):c.740C>G (p.Pro247Arg)	SLC22A5 (P247R +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GPathogenic/Likely pathogenic
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 3240475	NM_003060.4(SLC22A5):c.768G>A (p.Trp256Ter)	SLC22A5 (W256* +1 more)	Single nucleotide variant (nonsense)	Renal carnitine transport defect	GPathogenic
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 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 1451891	NM_003060.4(SLC22A5):c.802del (p.Val268fs)	SLC22A5 (V268fs +1 more)	Deletion (frameshift variant)	Renal carnitine transport defect	GPathogenic
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 2678794	NM_003060.4(SLC22A5):c.824G>A (p.Trp275Ter)	SLC22A5 (W275* +1 more)	Single nucleotide variant (nonsense)	Renal carnitine transport defect	GLikely pathogenic
Select item 2678799	NM_003060.4(SLC22A5):c.824+1G>T	SLC22A5	Single nucleotide variant (splice donor variant)	Renal carnitine transport defect	GLikely pathogenic
Select item 842614	NM_003060.4(SLC22A5):c.825-52G>A	SLC22A5	Single nucleotide variant (intron variant)	Renal carnitine transport defect	GPathogenic
Select item 370837	NM_003060.4(SLC22A5):c.825-1G>C	SLC22A5	Single nucleotide variant (splice acceptor variant)	Renal carnitine transport defect	GLikely pathogenic
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 1070906	NM_003060.4(SLC22A5):c.844dup (p.Arg282fs)	SLC22A5 (R282fs +1 more)	Duplication (frameshift variant)	Renal carnitine transport defect	GPathogenic/Likely pathogenic
Select item 1451545	NM_003060.4(SLC22A5):c.839C>T (p.Ser280Phe)	SLC22A5 (S304F)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GPathogenic/Likely pathogenic
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 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 2678797	NM_003060.4(SLC22A5):c.951+1G>A	SLC22A5	Single nucleotide variant (splice donor variant)	Renal carnitine transport defect	GLikely pathogenic
Select item 551129	NM_003060.4(SLC22A5):c.952-2A>G	SLC22A5	Single nucleotide variant (splice acceptor variant)	Renal carnitine transport defect	GLikely pathogenic
Select item 971074	NM_003060.4(SLC22A5):c.1006C>T (p.Arg336Ter)	SLC22A5 (R336* +1 more)	Single nucleotide variant (nonsense)	Renal carnitine transport defect +1 more	GPathogenic/Likely pathogenic
Select item 2678791	NM_003060.4(SLC22A5):c.1014G>A (p.Trp338Ter)	SLC22A5 (W338* +1 more)	Single nucleotide variant (nonsense)	Renal carnitine transport defect	GLikely pathogenic
Select item 2678792	NM_003060.4(SLC22A5):c.1032dup (p.Ile345fs)	SLC22A5 (I345fs +1 more)	Duplication (frameshift variant)	Renal carnitine transport defect	GLikely pathogenic
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 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 2678806	NM_003060.4(SLC22A5):c.1074T>G (p.Tyr358Ter)	SLC22A5 (Y358* +1 more)	Single nucleotide variant (nonsense)	Renal carnitine transport defect	GLikely pathogenic
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
Select item 553624	NM_003060.4(SLC22A5):c.1139C>T (p.Ala380Val)	SLC22A5 (A380V +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect +1 more	GConflicting classifications of pathogenicity
Select item 645158	NM_003060.4(SLC22A5):c.1158del (p.Tyr387fs)	SLC22A5 (Y387fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2678784	NM_003060.4(SLC22A5):c.1161T>G (p.Tyr387Ter)	SLC22A5 (Y387* +1 more)	Single nucleotide variant (nonsense)	Renal carnitine transport defect	GPathogenic
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 25411	NM_003060.4(SLC22A5):c.1193C>T (p.Pro398Leu)	SLC22A5 (P422L)	Single nucleotide variant (missense variant)	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)	not provided +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)	Renal carnitine transport defect +1 more	GPathogenic
Select item 1069784	NM_003060.4(SLC22A5):c.1240del (p.Leu414fs)	SLC22A5 (L414fs +1 more)	Deletion (frameshift variant)	Renal carnitine transport defect	GPathogenic/Likely pathogenic
Select item 503649	NM_003060.4(SLC22A5):c.1250dup (p.Met417fs)	SLC22A5 (M417fs +1 more)	Duplication (frameshift variant)	Renal carnitine transport defect +1 more	GPathogenic/Likely pathogenic
Select item 2678802	NM_003060.4(SLC22A5):c.1268-2A>G	SLC22A5	Single nucleotide variant (splice acceptor variant)	Renal carnitine transport defect	GLikely pathogenic
Select item 426720	NM_003060.4(SLC22A5):c.1298T>C (p.Met433Thr)	SLC22A5 (M433T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 6418	NM_003060.4(SLC22A5):c.1304del (p.Gly435fs)	SLC22A5 (G459fs +1 more)	Deletion (frameshift variant)	Renal carnitine transport defect	GPathogenic
Select item 25416	NM_003060.4(SLC22A5):c.1319C>T (p.Thr440Met)	SLC22A5 (T464M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 6428	NM_003060.4(SLC22A5):c.1324_1325delinsAT (p.Ala442Ile)	SLC22A5 (A442I +1 more)	Indel (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1424767	NM_003060.4(SLC22A5):c.1336G>T (p.Val446Phe)	SLC22A5 (V470F)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GPathogenic/Likely pathogenic
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)	Renal carnitine transport defect +2 more	GConflicting classifications of pathogenicity
Select item 2678783	NM_003060.4(SLC22A5):c.1347del (p.Val448_Tyr449insTer)	SLC22A5	Deletion (nonsense)	Renal carnitine transport defect	GPathogenic/Likely pathogenic
Select item 1367433	NM_003060.4(SLC22A5):c.1350del (p.Ala451fs)	SLC22A5 (A475fs +1 more)	Deletion (frameshift variant)	Renal carnitine transport defect	GPathogenic/Likely pathogenic

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