SLC22A5[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 350810	NM_003060.4(SLC22A5):c.-30G>C	SLC22A5	Single nucleotide variant (5 prime UTR variant)	Renal carnitine transport defect	GUncertain significance
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 554767	NM_003060.4(SLC22A5):c.1A>T (p.Met1Leu)	SLC22A5 (M1L)	Single nucleotide variant (missense variant +1 more)	Renal carnitine transport defect	GLikely pathogenic
Select item 553595	NM_003060.4(SLC22A5):c.1A>G (p.Met1Val)	SLC22A5 (M1V)	Single nucleotide variant (missense variant +1 more)	Renal carnitine transport defect	GLikely pathogenic
Select item 1071451	NM_003060.4(SLC22A5):c.2T>C (p.Met1Thr)	SLC22A5 (M1T)	Single nucleotide variant (missense variant +1 more)	Renal carnitine transport defect	GPathogenic
Select item 556750	NM_003060.4(SLC22A5):c.2T>G (p.Met1Arg)	SLC22A5 (M1R)	Single nucleotide variant (missense variant +1 more)	Renal carnitine transport defect	GLikely pathogenic
Select item 6425	NM_003060.4(SLC22A5):c.3G>T (p.Met1Ile)	SLC22A5 (M1I)	Single nucleotide variant (missense variant +1 more)	Renal carnitine transport defect	GLikely pathogenic
Select item 6410	NM_003060.4(SLC22A5):c.4dup (p.Arg2fs)	SLC22A5 (R2fs)	Duplication (frameshift variant)	Renal carnitine transport defect	GPathogenic
Select item 2117377	NM_003060.4(SLC22A5):c.4C>A (p.Arg2=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 990991	NM_003060.4(SLC22A5):c.4C>G (p.Arg2Gly)	SLC22A5 (R2G)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707675	NM_003060.4(SLC22A5):c.5G>C (p.Arg2Pro)	SLC22A5 (R2P)	Single nucleotide variant (missense 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 550591	NM_003060.4(SLC22A5):c.13del (p.Asp5fs)	SLC22A5 (D5fs)	Deletion (frameshift variant)	Renal carnitine transport defect	GLikely pathogenic
Select item 2810987	NM_003060.4(SLC22A5):c.20_21insCCGGT (p.Thr8fs)	SLC22A5 (T8fs)	Insertion (frameshift variant)	Renal carnitine transport defect	GPathogenic
Select item 1983591	NM_003060.4(SLC22A5):c.21G>T (p.Val7=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 2157553	NM_003060.4(SLC22A5):c.23C>T (p.Thr8Ile)	SLC22A5 (T8I)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1141932	NM_003060.4(SLC22A5):c.24C>A (p.Thr8=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 2752411	NM_003060.4(SLC22A5):c.26C>G (p.Ala9Gly)	SLC22A5 (A9G)	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 3003152	NM_003060.4(SLC22A5):c.27C>T (p.Ala9=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 1516651	NM_003060.4(SLC22A5):c.28T>C (p.Phe10Leu)	SLC22A5 (F10L)	Single nucleotide variant (missense variant)	Renal carnitine transport defect +1 more	GUncertain significance
Select item 1026905	NM_003060.4(SLC22A5):c.29T>A (p.Phe10Tyr)	SLC22A5 (F10Y)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 711240	NM_003060.4(SLC22A5):c.30C>T (p.Phe10=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 2834870	NM_003060.4(SLC22A5):c.31C>T (p.Leu11=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 835054	NM_003060.4(SLC22A5):c.32T>C (p.Leu11Pro)	SLC22A5 (L11P)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 2766648	NM_003060.4(SLC22A5):c.34G>C (p.Gly12Arg)	SLC22A5 (G12R)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GLikely pathogenic
Select item 25349	NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser)	SLC22A5	Single nucleotide variant (missense variant)	Renal carnitine transport defect +2 more	GConflicting classifications of pathogenicity
Select item 2955851	NM_003060.4(SLC22A5):c.35_36delinsAT (p.Gly12Asp)	SLC22A5 (G12D)	Indel (missense variant)	Renal carnitine transport defect	GUncertain significance
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 2889601	NM_003060.4(SLC22A5):c.36C>T (p.Gly12=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 1509417	NM_003060.4(SLC22A5):c.37G>A (p.Glu13Lys)	SLC22A5 (E13K)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1068932	NM_003060.4(SLC22A5):c.37G>T (p.Glu13Ter)	SLC22A5 (E13*)	Single nucleotide variant (nonsense)	Renal carnitine transport defect	GPathogenic
Select item 2707460	NM_003060.4(SLC22A5):c.39G>A (p.Glu13=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 579814	NM_003060.4(SLC22A5):c.39G>C (p.Glu13Asp)	SLC22A5 (E13D)	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 551258	NM_003060.4(SLC22A5):c.43_45dup (p.Gly15dup)	SLC22A5	Duplication (inframe_insertion)	Renal carnitine transport defect	GUncertain significance
Select item 1439444	NM_003060.4(SLC22A5):c.42G>C (p.Trp14Cys)	SLC22A5 (W14C)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
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 2825804	NM_003060.4(SLC22A5):c.43G>A (p.Gly15Arg)	SLC22A5 (G15R)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GLikely 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 1065994	NM_003060.4(SLC22A5):c.44G>A (p.Gly15Glu)	SLC22A5 (G15E)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GConflicting classifications of pathogenicity
Select item 3003153	NM_003060.4(SLC22A5):c.45G>C (p.Gly15=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 2581708	NM_003060.4(SLC22A5):c.47C>T (p.Pro16Leu)	SLC22A5 (P16L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1432730	NM_003060.4(SLC22A5):c.52C>G (p.Gln18Glu)	SLC22A5 (Q18E)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1415806	NM_003060.4(SLC22A5):c.53A>G (p.Gln18Arg)	SLC22A5 (Q18R)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 3233548	NM_003060.4(SLC22A5):c.55C>G (p.Arg19Gly)	SLC22A5 (R19G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1055631	NM_003060.4(SLC22A5):c.55C>T (p.Arg19Cys)	SLC22A5 (R19C)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GLikely pathogenic
Select item 651905	NM_003060.4(SLC22A5):c.55C>A (p.Arg19Ser)	SLC22A5 (R19S)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GConflicting classifications of pathogenicity
Select item 595954	NM_003060.4(SLC22A5):c.56_57delinsCT (p.Arg19Pro)	SLC22A5 (R19P)	Indel (missense variant)	not provided +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 595219	NM_003060.4(SLC22A5):c.57C>T (p.Arg19=)	SLC22A5	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
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 1142970	NM_003060.4(SLC22A5):c.63C>T (p.Ile21=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 1951762	NM_003060.4(SLC22A5):c.66C>T (p.Phe22=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 1430105	NM_003060.4(SLC22A5):c.69_71del (p.Phe23del)	SLC22A5 (F23del)	Deletion (inframe_deletion)	Renal carnitine transport defect	GPathogenic
Select item 2897476	NM_003060.4(SLC22A5):c.70C>T (p.Leu24=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
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 1534536	NM_003060.4(SLC22A5):c.72G>C (p.Leu24=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 460414	NM_003060.4(SLC22A5):c.75C>T (p.Leu25=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 944576	NM_003060.4(SLC22A5):c.76A>G (p.Ser26Gly)	SLC22A5 (S26G)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
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 2873845	NM_003060.4(SLC22A5):c.78C>G (p.Ser26Arg)	SLC22A5 (S26R)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GLikely pathogenic
Select item 2167624	NM_003060.4(SLC22A5):c.79G>A (p.Ala27Thr)	SLC22A5 (A27T)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 2701136	NM_003060.4(SLC22A5):c.81C>T (p.Ala27=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 1726148	NM_003060.4(SLC22A5):c.82_83del (p.Ser28fs)	SLC22A5 (S28fs)	Deletion (frameshift variant)	Renal carnitine transport defect	GLikely pathogenic
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 1707672	NM_003060.4(SLC22A5):c.84C>G (p.Ser28Arg)	SLC22A5 (S28R)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1472873	NM_003060.4(SLC22A5):c.84C>A (p.Ser28Arg)	SLC22A5 (S28R)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GLikely pathogenic
Select item 2850377	NM_003060.4(SLC22A5):c.87C>A (p.Ile29=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 2816401	NM_003060.4(SLC22A5):c.90C>T (p.Ile30=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 1458534	NM_003060.4(SLC22A5):c.92C>T (p.Pro31Leu)	SLC22A5 (P31L)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GPathogenic
Select item 460420	NM_003060.4(SLC22A5):c.93C>T (p.Pro31=)	SLC22A5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2822526	NM_003060.4(SLC22A5):c.95del (p.Asn32fs)	SLC22A5 (N32fs)	Deletion (frameshift variant)	Renal carnitine transport defect	GPathogenic
Select item 1516511	NM_003060.4(SLC22A5):c.94A>G (p.Asn32Asp)	SLC22A5 (N32D)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GLikely pathogenic
Select item 167695	NM_003060.4(SLC22A5):c.94A>C (p.Asn32His)	SLC22A5 (N32H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1707691	NM_003060.4(SLC22A5):c.103A>G (p.Thr35Ala)	SLC22A5 (T35A)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GLikely benign
Select item 1999715	NM_003060.4(SLC22A5):c.104C>G (p.Thr35Ser)	SLC22A5 (T35S)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1984056	NM_003060.4(SLC22A5):c.104_153delinsATGGTATGTCAGTCGTGTTCCTGGCGGGGACCCCGGAGCACCGCTGTCGA (p.Thr35_Ala44delinsAsnGlyMetSerValValPheLeuAlaGly)	SLC22A5	Indel (missense variant)	Renal carnitine transport defect	GPathogenic
Select item 661420	NM_003060.4(SLC22A5):c.104C>T (p.Thr35Ile)	SLC22A5 (T35I)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 772715	NM_003060.4(SLC22A5):c.105C>T (p.Thr35=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 2724971	NM_003060.4(SLC22A5):c.108C>T (p.Gly36=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 203934	NM_003060.4(SLC22A5):c.109C>G (p.Leu37Val)	SLC22A5 (L37V)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 2861563	NM_003060.4(SLC22A5):c.111G>A (p.Leu37=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 1596439	NM_003060.4(SLC22A5):c.111G>C (p.Leu37=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 2756564	NM_003060.4(SLC22A5):c.112T>A (p.Ser38Thr)	SLC22A5 (S38T)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1911614	NM_003060.4(SLC22A5):c.113C>G (p.Ser38Cys)	SLC22A5 (S38C)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GLikely pathogenic
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 1131452	NM_003060.4(SLC22A5):c.114C>T (p.Ser38=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
Select item 1088323	NM_003060.4(SLC22A5):c.114C>G (p.Ser38=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
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 1616456	NM_003060.4(SLC22A5):c.117C>T (p.Ser39=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
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 575689	NM_003060.4(SLC22A5):c.119T>A (p.Val40Glu)	SLC22A5 (V40E)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 2808496	NM_003060.4(SLC22A5):c.120G>A (p.Val40=)	SLC22A5	Single nucleotide variant (synonymous variant)	Renal carnitine transport defect	GLikely benign
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

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