ClinVar for MedGen (Select 1850526) - ClinVar

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Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1097363	NM_003060.4(SLC22A5):c.1437C>T (p.Tyr479=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 1078238	NM_003060.4(SLC22A5):c.300G>A (p.Gly100=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
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 1062293	NM_003060.4(SLC22A5):c.893G>T (p.Arg298Leu)	SLC22A5 (R298L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1053874	NM_003060.4(SLC22A5):c.1046T>C (p.Met349Thr)	SLC22A5 (M349T +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1051278	NM_003060.4(SLC22A5):c.233C>T (p.Pro78Leu)	SLC22A5 (P78L)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1044000	NM_003060.4(SLC22A5):c.893G>A (p.Arg298His)	SLC22A5 (R298H +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1042938	NM_003060.4(SLC22A5):c.113C>A (p.Ser38Tyr)	SLC22A5 (S38Y)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GPathogenic
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 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 1036169	NM_003060.4(SLC22A5):c.518T>C (p.Leu173Pro)	SLC22A5 (L197P +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
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 1010620	NM_003060.4(SLC22A5):c.1451G>A (p.Gly484Asp)	SLC22A5 (G484D +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1006040	NM_003060.4(SLC22A5):c.785C>T (p.Ala262Val)	SLC22A5 (A262V +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
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 1004206	NM_003060.4(SLC22A5):c.951G>A (p.Glu317=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	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 976551	NM_003060.4(SLC22A5):c.1284T>A (p.Ala428=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GBenign
Select item 971368	NM_003060.4(SLC22A5):c.1373T>C (p.Val458Ala)	SLC22A5 (V458A +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect +2 more	GUncertain significance
Select item 969757	NM_003060.4(SLC22A5):c.298G>C (p.Gly100Arg)	SLC22A5 (G100R)	Single nucleotide variant (missense variant)	Renal carnitine transport defect +1 more	GUncertain significance
Select item 969623	NM_003060.4(SLC22A5):c.861G>C (p.Gln287His)	SLC22A5 (Q287H +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
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 966096	NM_003060.4(SLC22A5):c.911A>G (p.Asn304Ser)	SLC22A5 (N328S +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 965922	NM_003060.4(SLC22A5):c.1021C>T (p.Arg341Trp)	SLC22A5 (R365W +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 965162	NM_003060.4(SLC22A5):c.130G>A (p.Ala44Thr)	SLC22A5 (A44T)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 965109	NM_003060.4(SLC22A5):c.244C>A (p.Arg82Ser)	SLC22A5 (R82S)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 947886	NM_003060.4(SLC22A5):c.470C>T (p.Ser157Phe)	SLC22A5 (S157F +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect +1 more	GConflicting classifications of pathogenicity
Select item 942840	NM_003060.4(SLC22A5):c.964A>G (p.Ser322Gly)	SLC22A5 (S346G +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 934116	NM_003060.4(SLC22A5):c.215G>C (p.Arg72Pro)	SLC22A5 (R72P)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 864819	NM_003060.4(SLC22A5):c.1641A>C (p.Glu547Asp)	SLC22A5 (E571D +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	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 858027	NM_003060.4(SLC22A5):c.1060A>G (p.Ile354Val)	SLC22A5 (I378V +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
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 845725	NM_003060.4(SLC22A5):c.1271T>C (p.Leu424Ser)	SLC22A5 (L448S +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect +1 more	GUncertain significance
Select item 842614	NM_003060.4(SLC22A5):c.825-52G>A	SLC22A5	Single nucleotide variant (intron variant)	Renal carnitine transport defect	GPathogenic
Select item 842388	NM_003060.4(SLC22A5):c.878C>T (p.Ala293Val)	SLC22A5 (A317V +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 811296	NM_003060.4(SLC22A5):c.470C>A (p.Ser157Tyr)	SLC22A5 (S157Y +1 more)	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 779768	NM_003060.4(SLC22A5):c.318G>A (p.Gly106=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 756969	NM_003060.4(SLC22A5):c.1101C>T (p.Asn367=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 745401	NM_003060.4(SLC22A5):c.1353C>T (p.Ala451=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 739817	NM_003060.4(SLC22A5):c.1080G>C (p.Gly360=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 715896	NM_003060.4(SLC22A5):c.1539C>T (p.Phe513=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 703081	NM_003060.4(SLC22A5):c.1440C>T (p.Phe480=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GConflicting classifications of pathogenicity
Select item 665382	NM_003060.4(SLC22A5):c.976C>G (p.Gln326Glu)	SLC22A5 (Q326E +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
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 656943	NM_003060.4(SLC22A5):c.1360T>C (p.Tyr454His)	SLC22A5 (Y454H +1 more)	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 654758	NM_003060.4(SLC22A5):c.327G>C (p.Glu109Asp)	SLC22A5 (E109D)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 652778	NM_003060.4(SLC22A5):c.244C>T (p.Arg82Cys)	SLC22A5 (R82C)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 650541	NM_003060.4(SLC22A5):c.1022G>A (p.Arg341Gln)	SLC22A5 (R365Q +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
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 582487	NM_003060.4(SLC22A5):c.1660A>G (p.Ser554Gly)	SLC22A5 (S554G +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 581634	NM_003060.4(SLC22A5):c.692C>G (p.Ser231Cys)	SLC22A5 (S231C +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	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 580674	NM_003060.4(SLC22A5):c.1036A>G (p.Met346Val)	SLC22A5 (M346V +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 580421	NM_003060.4(SLC22A5):c.40T>A (p.Trp14Arg)	SLC22A5 (W14R)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GPathogenic
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 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 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 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 574461	NM_003060.4(SLC22A5):c.1255C>G (p.Leu419Val)	SLC22A5 (L419V +1 more)	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 568045	NM_003060.4(SLC22A5):c.1453G>A (p.Ala485Thr)	SLC22A5 (A485T +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 567955	NM_003060.4(SLC22A5):c.265A>G (p.Ile89Val)	SLC22A5 (I89V)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 529852	NM_003060.4(SLC22A5):c.1403C>A (p.Thr468Lys)	SLC22A5 (T468K +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GConflicting classifications of pathogenicity
Select item 529851	NM_003060.4(SLC22A5):c.133A>G (p.Thr45Ala)	SLC22A5 (T45A)	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 529849	NM_003060.4(SLC22A5):c.208C>T (p.Arg70Trp)	SLC22A5 (R70W)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 529848	NM_003060.4(SLC22A5):c.1225C>G (p.Leu409Val)	SLC22A5 (L409V +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 529847	NM_003060.4(SLC22A5):c.1586G>T (p.Gly529Val)	SLC22A5 (G529V +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 529846	NM_003060.4(SLC22A5):c.791C>T (p.Thr264Met)	SLC22A5 (T264M +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 460421	NM_003060.4(SLC22A5):c.944C>T (p.Pro315Leu)	SLC22A5 (P315L +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	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 460409	NM_003060.4(SLC22A5):c.592G>A (p.Val198Met)	SLC22A5 (V198M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 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 460398	NM_003060.4(SLC22A5):c.1411C>T (p.Arg471Cys)	SLC22A5 (R471C +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect +1 more	GPathogenic/Likely pathogenic
Select item 460394	NM_003060.4(SLC22A5):c.1238T>G (p.Val413Gly)	SLC22A5 (V413G +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 460391	NM_003060.4(SLC22A5):c.1142T>C (p.Met381Thr)	SLC22A5 (M381T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 451559	NM_003060.4(SLC22A5):c.221G>A (p.Gly74Asp)	SLC22A5 (G74D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 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 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 38790	NM_003060.4(SLC22A5):c.254_264dup (p.Ile89fs)	SLC22A5 (I89fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
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 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 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 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 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 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 6417	NM_003060.4(SLC22A5):c.1202dup (p.Tyr401Ter)	SLC22A5 (Y401* +1 more)	Duplication (nonsense)	Renal carnitine transport defect +1 more	GPathogenic/Likely pathogenic

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Items: 94