SLC22A5[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 59673	GRCh38/hg38 5q23.1-31.1(chr5:116677122-132686163)x1	LOC129994580, LOC129994581 +336 more	Copy number loss	See cases	GPathogenic
Select item 58356	GRCh38/hg38 5q23.2-31.1(chr5:126438406-132873967)x1	LOC129994513, LOC129994514 +200 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 146119	GRCh38/hg38 5q31.1(chr5:131626503-135815054)x1	ACSL6, ACSL6-AS1 +263 more	Copy number loss	See cases	GPathogenic
Select item 1168305	NC_000005.10:g.132369028T>G	MIR3936HG, SLC22A5	Single nucleotide variant	Renal carnitine transport defect	GBenign
Select item 1236418	NC_000005.10:g.132369527C>T	MIR3936HG, SLC22A5	Single nucleotide variant	not provided	GBenign
Select item 1221263	NC_000005.10:g.132369574G>C	MIR3936HG, SLC22A5	Single nucleotide variant	not provided	GBenign
Select item 1266598	NC_000005.10:g.132369605T>G	LOC129994569, MIR3936HG +1 more	Single nucleotide variant	not provided	GBenign
Select item 1140554	NC_000005.10:g.132369654C>A	LOC129994569, MIR3936HG +1 more	Single nucleotide variant	Renal carnitine transport defect +1 more	GLikely benign
Select item 904881	NM_003060.4(SLC22A5):c.-234C>G	LOC129994569, MIR3936HG +1 more	Single nucleotide variant (5 prime UTR variant)	Renal carnitine transport defect	GBenign
Select item 906482	NM_003060.4(SLC22A5):c.-231G>C	LOC129994569, MIR3936HG +1 more	Single nucleotide variant (5 prime UTR variant)	Renal carnitine transport defect	GUncertain significance
Select item 350806	NM_003060.4(SLC22A5):c.-207C>G	LOC129994569, MIR3936HG +1 more	Single nucleotide variant (5 prime UTR variant)	Renal carnitine transport defect +1 more	GBenign
Select item 25338	NM_003060.4(SLC22A5):c.-207=	LOC129994569, MIR3936HG +1 more	Single nucleotide variant (no sequence alteration)	Inflammatory bowel disease 5	GUncertain significance
Select item 906483	NM_003060.4(SLC22A5):c.-206A>C	LOC129994569, MIR3936HG +1 more	Single nucleotide variant (5 prime UTR variant)	Renal carnitine transport defect	GUncertain significance
Select item 25340	NM_003060.4(SLC22A5):c.-149G>A	LOC129994569, MIR3936HG +1 more	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 350807	NM_003060.4(SLC22A5):c.-139G>T	LOC129994569, MIR3936HG +1 more	Single nucleotide variant (5 prime UTR variant)	Renal carnitine transport defect	GBenign
Select item 556202	NM_003060.4(SLC22A5):c.-131A>C	LOC129994569, MIR3936HG +1 more	Single nucleotide variant (5 prime UTR variant)	Renal carnitine transport defect	GUncertain significance
Select item 556691	NM_003060.4(SLC22A5):c.-129_-102del	LOC129994569, MIR3936HG +1 more	Deletion (5 prime UTR variant)	Renal carnitine transport defect	GUncertain significance
Select item 350808	NM_003060.4(SLC22A5):c.-118G>A	LOC129994569, MIR3936HG +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Renal carnitine transport defect +1 more	GLikely benign
Select item 350809	NM_003060.4(SLC22A5):c.-107G>T	LOC129994569, MIR3936HG +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Renal carnitine transport defect	GBenign
Select item 1218205	NM_003060.4(SLC22A5):c.-100G>C	LOC129994569, MIR3936HG +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign/Likely benign
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 496192	NM_003060.4(SLC22A5):c.-78_-77delinsTA	LOC129994569, MIR3936HG +1 more	Indel (non-coding transcript variant +1 more)	not provided	GBenign
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 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 +1 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

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