"Revvity Omics, Revvity"[submitter] AND "SLC22A5"[gene] - ClinVar

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Items: 31

	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 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 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 25353	NM_003060.4(SLC22A5):c.64TTC[1] (p.Phe23del)	SLC22A5 (F23del)	Microsatellite (inframe_deletion)	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 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 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 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 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 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 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 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 2690001	NM_003060.4(SLC22A5):c.706T>A (p.Cys236Ser)	SLC22A5 (C236S +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
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 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 370837	NM_003060.4(SLC22A5):c.825-1G>C	SLC22A5	Single nucleotide variant (splice acceptor variant)	Renal carnitine transport defect	GLikely pathogenic
Select item 1521895	NM_003060.4(SLC22A5):c.952-5_955del	SLC22A5	Deletion (splice acceptor variant)	Renal carnitine transport defect	GPathogenic/Likely 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 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 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 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 373229	NM_003060.4(SLC22A5):c.1252C>T (p.Gln418Ter)	SLC22A5 (Q418* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	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 1325078	NM_003060.4(SLC22A5):c.1385G>A (p.Gly462Asp)	SLC22A5 (G462D +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GLikely pathogenic
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 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

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Items: 31