6583[geneid] - 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 1249318	NC_000005.10:g.132294369C>G	LOC129994566, SLC22A4	Single nucleotide variant	not provided	GBenign
Select item 3039399	NM_003059.3(SLC22A4):c.-10A>T	SLC22A4	Single nucleotide variant (5 prime UTR variant)	SLC22A4-related disorder	GLikely benign
Select item 2096397	NM_003059.3(SLC22A4):c.31C>T (p.Leu11=)	SLC22A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2887893	NM_003059.3(SLC22A4):c.43G>A (p.Gly15Arg)	SLC22A4 (G15R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1568448	NM_003059.3(SLC22A4):c.78C>T (p.Ser26=)	SLC22A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2088075	NM_003059.3(SLC22A4):c.95A>G (p.Asn32Ser)	SLC22A4 (N32S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2181387	NM_003059.3(SLC22A4):c.134C>T (p.Thr45Ile)	SLC22A4 (T45I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 805280	NM_003059.3(SLC22A4):c.138G>A (p.Pro46=)	SLC22A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3163475	NM_003059.3(SLC22A4):c.158C>G (p.Pro53Arg)	SLC22A4 (P53R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2134127	NM_003059.3(SLC22A4):c.159G>C (p.Pro53=)	SLC22A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 751433	NM_003059.3(SLC22A4):c.162C>T (p.Asp54=)	SLC22A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2377366	NM_003059.3(SLC22A4):c.181G>A (p.Ala61Thr)	SLC22A4 (A61T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2975758	NM_003059.3(SLC22A4):c.200_215del (p.Val67fs)	SLC22A4 (V67fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2993735	NM_003059.3(SLC22A4):c.209G>T (p.Arg70Leu)	SLC22A4 (R70L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1483903	NM_003059.3(SLC22A4):c.209G>C (p.Arg70Pro)	SLC22A4 (R70P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2975759	NM_003059.3(SLC22A4):c.216G>C (p.Arg72=)	SLC22A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2610425	NM_003059.3(SLC22A4):c.218A>G (p.Asp73Gly)	SLC22A4 (D73G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1370323	NM_003059.3(SLC22A4):c.225C>T (p.Arg75=)	SLC22A4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2044715	NM_003059.3(SLC22A4):c.264C>T (p.Thr88=)	SLC22A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1619497	NM_003059.3(SLC22A4):c.267C>T (p.Ile89=)	SLC22A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2694733	NM_003059.3(SLC22A4):c.285C>T (p.Leu95=)	SLC22A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2174633	NM_003059.3(SLC22A4):c.286G>C (p.Gly96Arg)	SLC22A4 (G96R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1478475	NM_003059.3(SLC22A4):c.294del (p.Glu98fs)	SLC22A4 (E98fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2310079	NM_003059.3(SLC22A4):c.313C>G (p.Leu105Val)	SLC22A4 (L105V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 988885	NM_003059.3(SLC22A4):c.338G>A (p.Cys113Tyr)	SLC22A4 (C113Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1669687	NM_003059.3(SLC22A4):c.339C>T (p.Cys113=)	SLC22A4	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1878310	NM_003059.3(SLC22A4):c.393+1G>A	SLC22A4	Single nucleotide variant (splice donor variant)	not specified +1 more	GUncertain significance
Select item 1239763	NM_003059.3(SLC22A4):c.393+150A>C	SLC22A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 5749	NM_003059.3(SLC22A4):c.393+6607C>T	SLC22A4	Single nucleotide variant (intron variant)	Rheumatoid arthritis	Grisk factor
Select item 1601499	NM_003059.3(SLC22A4):c.394-7318A>G	SLC22A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3017282	NM_003059.3(SLC22A4):c.417C>T (p.Asn139=)	MIR3936HG, SLC22A4	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2831959	NM_003059.3(SLC22A4):c.431T>C (p.Leu144Pro)	MIR3936HG, SLC22A4 (L144P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1581821	NM_003059.3(SLC22A4):c.441C>A (p.Ser147=)	MIR3936HG, SLC22A4	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2873046	NM_003059.3(SLC22A4):c.445T>C (p.Phe149Leu)	MIR3936HG, SLC22A4 (F149L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2172061	NM_003059.3(SLC22A4):c.451G>A (p.Val151Ile)	MIR3936HG, SLC22A4 (V151I)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1426958	NM_003059.3(SLC22A4):c.456C>T (p.Gly152=)	MIR3936HG, SLC22A4	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 785802	NM_003059.3(SLC22A4):c.465C>T (p.Leu155=)	MIR3936HG, SLC22A4	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GBenign
Select item 1910763	NM_003059.3(SLC22A4):c.466G>A (p.Gly156Ser)	MIR3936HG, SLC22A4 (G156S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1392315	NM_003059.3(SLC22A4):c.475G>A (p.Val159Met)	MIR3936HG, SLC22A4 (V159M)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2214345	NM_003059.3(SLC22A4):c.496A>G (p.Arg166Gly)	MIR3936HG, SLC22A4 (R166G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2020477	NM_003059.3(SLC22A4):c.497G>C (p.Arg166Thr)	MIR3936HG, SLC22A4 (R166T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1220625	NM_003059.3(SLC22A4):c.498-121A>G	MIR3936HG, SLC22A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280356	NM_003059.3(SLC22A4):c.498-85G>A	MIR3936HG, SLC22A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1533590	NM_003059.3(SLC22A4):c.498-20T>C	MIR3936HG, SLC22A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1906350	NM_003059.3(SLC22A4):c.498-15T>C	MIR3936HG, SLC22A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1615351	NM_003059.3(SLC22A4):c.498-7T>C	MIR3936HG, SLC22A4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2682905	NM_003059.3(SLC22A4):c.514G>A (p.Val172Ile)	MIR3936HG, SLC22A4 (V172I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2405291	NM_003059.3(SLC22A4):c.523G>A (p.Ala175Thr)	MIR3936HG, SLC22A4 (A175T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3008750	NM_003059.3(SLC22A4):c.545G>A (p.Gly182Asp)	MIR3936HG, SLC22A4 (G182D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2020714	NM_003059.3(SLC22A4):c.558G>C (p.Leu186=)	MIR3936HG, SLC22A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2350975	NM_003059.3(SLC22A4):c.584T>C (p.Met195Thr)	MIR3936HG, SLC22A4 (M195T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2026472	NM_003059.3(SLC22A4):c.591T>A (p.Thr197=)	MIR3936HG, SLC22A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1669925	NM_003059.3(SLC22A4):c.606C>T (p.Ile202=)	MIR3936HG, SLC22A4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2810081	NM_003059.3(SLC22A4):c.613A>G (p.Met205Val)	MIR3936HG, SLC22A4 (M205V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2323111	NM_003059.3(SLC22A4):c.629A>G (p.Asn210Ser)	MIR3936HG, SLC22A4 (N210S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2722859	NM_003059.3(SLC22A4):c.630C>G (p.Asn210Lys)	MIR3936HG, SLC22A4 (N210K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2996879	NM_003059.3(SLC22A4):c.634G>A (p.Val212Met)	MIR3936HG, SLC22A4 (V212M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2994734	NM_003059.3(SLC22A4):c.639A>G (p.Val213=)	MIR3936HG, SLC22A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2844618	NM_003059.3(SLC22A4):c.652+18G>A	MIR3936HG, SLC22A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1280672	NM_003059.3(SLC22A4):c.653-93G>C	MIR3936HG, SLC22A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1404289	NM_003059.3(SLC22A4):c.680G>A (p.Arg227His)	MIR3936HG, SLC22A4 (R227H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2065067	NM_003059.3(SLC22A4):c.699A>T (p.Leu233Phe)	MIR3936HG, SLC22A4 (L233F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1447933	NM_003059.3(SLC22A4):c.710C>A (p.Thr237Lys)	MIR3936HG, SLC22A4 (T237K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2052424	NM_003059.3(SLC22A4):c.744G>C (p.Leu248=)	MIR3936HG, SLC22A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1672527	NM_003059.3(SLC22A4):c.747T>C (p.Phe249=)	MIR3936HG, SLC22A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2085076	NM_003059.3(SLC22A4):c.765C>T (p.Asp255=)	MIR3936HG, SLC22A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3048998	NM_003059.3(SLC22A4):c.769C>A (p.Arg257=)	MIR3936HG, SLC22A4	Single nucleotide variant (synonymous variant)	SLC22A4-related disorder	GLikely benign
Select item 3011335	NM_003059.3(SLC22A4):c.786G>A (p.Ala262=)	MIR3936HG, SLC22A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3033025	NM_003059.3(SLC22A4):c.792G>A (p.Thr264=)	MIR3936HG, SLC22A4	Single nucleotide variant (synonymous variant)	SLC22A4-related disorder	GLikely benign
Select item 2160123	NM_003059.3(SLC22A4):c.797C>T (p.Pro266Leu)	MIR3936HG, SLC22A4 (P266L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975886	NM_003059.3(SLC22A4):c.824+19C>T	MIR3936HG, SLC22A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1248387	NM_003059.3(SLC22A4):c.824+37=	MIR3936HG, SLC22A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3002719	NM_003059.3(SLC22A4):c.825-16T>A	MIR3936HG, SLC22A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2555410	NM_003059.3(SLC22A4):c.857C>G (p.Ser286Cys)	MIR3936HG, SLC22A4 (S286C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2049513	NM_003059.3(SLC22A4):c.872G>C (p.Arg291Thr)	MIR3936HG, SLC22A4 (R291T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2415789	NM_003059.3(SLC22A4):c.874G>A (p.Glu292Lys)	MIR3936HG, SLC22A4 (E292K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2534093	NM_003059.3(SLC22A4):c.886A>G (p.Ile296Val)	MIR3936HG, SLC22A4 (I296V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398465	NM_003059.3(SLC22A4):c.892C>A (p.Gln298Lys)	MIR3936HG, SLC22A4 (Q298K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2785753	NM_003059.3(SLC22A4):c.912C>T (p.Asn304=)	MIR3936HG, SLC22A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1270019	NM_003059.3(SLC22A4):c.917T>C (p.Ile306Thr)	MIR3936HG, SLC22A4 (I306T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2047095	NM_003059.3(SLC22A4):c.937T>C (p.Phe313Leu)	MIR3936HG, SLC22A4 (F313L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1248012	NM_003059.3(SLC22A4):c.952-96A>G	MIR3936HG, SLC22A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1938327	NM_003059.3(SLC22A4):c.952-16A>G	MIR3936HG, SLC22A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3163476	NM_003059.3(SLC22A4):c.985A>G (p.Ile329Val)	MIR3936HG, SLC22A4 (I329V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3012882	NM_003059.3(SLC22A4):c.990G>A (p.Leu330=)	MIR3936HG, SLC22A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987495	NM_003059.3(SLC22A4):c.1002G>A (p.Arg334=)	MIR3936HG, SLC22A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2026473	NM_003059.3(SLC22A4):c.1004C>T (p.Thr335Ile)	MIR3936HG, SLC22A4 (T335I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1431847	NM_003059.3(SLC22A4):c.1007G>A (p.Arg336Gln)	MIR3936HG, SLC22A4 (R336Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1932880	NM_003059.3(SLC22A4):c.1044A>G (p.Leu348=)	MIR3936HG, SLC22A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1297325	NM_003059.3(SLC22A4):c.1046+5G>A	SLC22A4, MIR3936HG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1544709	NM_003059.3(SLC22A4):c.1046+11A>C	MIR3936HG, SLC22A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1272280	NM_003059.3(SLC22A4):c.1047-196G>A	MIR3936HG, SLC22A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2629323	NM_003059.3(SLC22A4):c.1071T>A (p.Phe357Leu)	MIR3936HG, SLC22A4 (F357L)	Single nucleotide variant (missense variant)	SLC22A4-related disorder	GUncertain significance
Select item 3163471	NM_003059.3(SLC22A4):c.1103G>A (p.Gly368Glu)	MIR3936HG, SLC22A4 (G368E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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