ClinVar for Gene (Select 6583) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3319126	NM_003059.3(SLC22A4):c.721G>A (p.Val241Ile)	MIR3936HG, SLC22A4 (V241I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319125	NM_003059.3(SLC22A4):c.1027A>G (p.Ile343Val)	MIR3936HG, SLC22A4 (I343V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319124	NM_003059.3(SLC22A4):c.768G>C (p.Trp256Cys)	MIR3936HG, SLC22A4 (W256C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242297	GRCh37/hg19 5q23.2-31.1(chr5:124864529-134720575)x1	FSTL4, GDF9 +63 more	Copy number loss	not provided	GPathogenic
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 3163475	NM_003059.3(SLC22A4):c.158C>G (p.Pro53Arg)	SLC22A4 (P53R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163473	NM_003059.3(SLC22A4):c.1301A>C (p.Lys434Thr)	MIR3936HG, SLC22A4 (K434T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163472	NM_003059.3(SLC22A4):c.1181C>T (p.Thr394Ile)	MIR3936HG, SLC22A4 (T394I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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
Select item 3062825	GRCh37/hg19 5q31.1(chr5:131502885-131673154)x1	P4HA2, PDLIM4 +1 more	Copy number loss	not specified	GUncertain significance
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 3039399	NM_003059.3(SLC22A4):c.-10A>T	SLC22A4	Single nucleotide variant (5 prime UTR variant)	SLC22A4-related disorder	GLikely benign
Select item 3035927	NM_003059.3(SLC22A4):c.*5A>G	MIR3936HG, SLC22A4	Single nucleotide variant (3 prime UTR variant)	SLC22A4-related disorder	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 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 3012882	NM_003059.3(SLC22A4):c.990G>A (p.Leu330=)	MIR3936HG, SLC22A4	Single nucleotide variant (synonymous variant)	not provided	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 3008750	NM_003059.3(SLC22A4):c.545G>A (p.Gly182Asp)	MIR3936HG, SLC22A4 (G182D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3002719	NM_003059.3(SLC22A4):c.825-16T>A	MIR3936HG, SLC22A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996879	NM_003059.3(SLC22A4):c.634G>A (p.Val212Met)	MIR3936HG, SLC22A4 (V212M)	Single nucleotide variant (missense variant)	not specified +1 more	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 2993735	NM_003059.3(SLC22A4):c.209G>T (p.Arg70Leu)	SLC22A4 (R70L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2982687	NM_003059.3(SLC22A4):c.1231G>A (p.Val411Met)	MIR3936HG, SLC22A4 (V411M)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2979354	NM_003059.3(SLC22A4):c.1445-12C>T	MIR3936HG, SLC22A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975886	NM_003059.3(SLC22A4):c.824+19C>T	MIR3936HG, SLC22A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975759	NM_003059.3(SLC22A4):c.216G>C (p.Arg72=)	SLC22A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975758	NM_003059.3(SLC22A4):c.200_215del (p.Val67fs)	SLC22A4 (V67fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2974314	NM_003059.3(SLC22A4):c.1569G>A (p.Gln523=)	MIR3936HG, SLC22A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2901761	NM_003059.3(SLC22A4):c.1444G>A (p.Gly482Ser)	MIR3936HG, SLC22A4 (G482S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2890765	NM_003059.3(SLC22A4):c.1174T>C (p.Leu392=)	MIR3936HG, SLC22A4	Single nucleotide variant (non-coding transcript variant +1 more)	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 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 2844618	NM_003059.3(SLC22A4):c.652+18G>A	MIR3936HG, SLC22A4	Single nucleotide variant (intron variant)	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 2810081	NM_003059.3(SLC22A4):c.613A>G (p.Met205Val)	MIR3936HG, SLC22A4 (M205V)	Single nucleotide variant (missense variant)	not provided	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 2780735	NM_003059.3(SLC22A4):c.1513C>A (p.Leu505Ile)	SLC22A4, MIR3936HG (L505I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2779463	NM_003059.3(SLC22A4):c.1336G>A (p.Val446Ile)	MIR3936HG, SLC22A4 (V446I)	Single nucleotide variant (missense variant)	not provided	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 2719218	NM_003059.3(SLC22A4):c.1473C>T (p.Ile491=)	MIR3936HG, 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 2682905	NM_003059.3(SLC22A4):c.514G>A (p.Val172Ile)	MIR3936HG, SLC22A4 (V172I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2636579	NM_003059.3(SLC22A4):c.1205C>T (p.Ala402Val)	MIR3936HG, SLC22A4 (A402V)	Single nucleotide variant (non-coding transcript variant +1 more)	SLC22A4-related disorder	GUncertain significance
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 2629254	NM_003059.3(SLC22A4):c.1471A>G (p.Ile491Val)	MIR3936HG, SLC22A4 (I491V)	Single nucleotide variant (missense variant)	SLC22A4-related disorder	GUncertain significance
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 2555410	NM_003059.3(SLC22A4):c.857C>G (p.Ser286Cys)	MIR3936HG, SLC22A4 (S286C)	Single nucleotide variant (missense variant)	not specified	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 2506534	GRCh37/hg19 5q23.3-31.1(chr5:127800418-134002686)	ACSL6, ADAMTS19 +44 more	Copy number loss	Houge-Janssens syndrome 3	GPathogenic
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 2405291	NM_003059.3(SLC22A4):c.523G>A (p.Ala175Thr)	MIR3936HG, SLC22A4 (A175T)	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 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 2350975	NM_003059.3(SLC22A4):c.584T>C (p.Met195Thr)	MIR3936HG, SLC22A4 (M195T)	Single nucleotide variant (missense variant)	not specified	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 2310079	NM_003059.3(SLC22A4):c.313C>G (p.Leu105Val)	SLC22A4 (L105V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239418	NM_003059.3(SLC22A4):c.1391C>T (p.Thr464Ile)	MIR3936HG, SLC22A4 (T464I)	Single nucleotide variant (missense variant)	not specified	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 2181387	NM_003059.3(SLC22A4):c.134C>T (p.Thr45Ile)	SLC22A4 (T45I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 2166930	NM_003059.3(SLC22A4):c.1363C>G (p.Leu455Val)	MIR3936HG, SLC22A4 (L455V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
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 2143590	NM_003059.3(SLC22A4):c.1262-10T>C	MIR3936HG, SLC22A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2134127	NM_003059.3(SLC22A4):c.159G>C (p.Pro53=)	SLC22A4	Single nucleotide variant (synonymous variant)	not provided	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 2088075	NM_003059.3(SLC22A4):c.95A>G (p.Asn32Ser)	SLC22A4 (N32S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2080855	NM_003059.3(SLC22A4):c.1460T>C (p.Met487Thr)	SLC22A4, MIR3936HG (M487T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2065067	NM_003059.3(SLC22A4):c.699A>T (p.Leu233Phe)	MIR3936HG, SLC22A4 (L233F)	Single nucleotide variant (missense variant)	SLC22A4-related disorder +1 more	GUncertain significance
Select item 2058870	NM_003059.3(SLC22A4):c.1380G>A (p.Ala460=)	MIR3936HG, SLC22A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2049513	NM_003059.3(SLC22A4):c.872G>C (p.Arg291Thr)	MIR3936HG, SLC22A4 (R291T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2044715	NM_003059.3(SLC22A4):c.264C>T (p.Thr88=)	SLC22A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2037451	NM_003059.3(SLC22A4):c.1647T>C (p.Thr549=)	MIR3936HG, SLC22A4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2033226	NM_003059.3(SLC22A4):c.1551A>G (p.Glu517=)	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 2026472	NM_003059.3(SLC22A4):c.591T>A (p.Thr197=)	MIR3936HG, SLC22A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2020477	NM_003059.3(SLC22A4):c.497G>C (p.Arg166Thr)	MIR3936HG, SLC22A4 (R166T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1958800	NM_003059.3(SLC22A4):c.1511C>T (p.Thr504Ile)	MIR3936HG, SLC22A4 (T504I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1938327	NM_003059.3(SLC22A4):c.952-16A>G	MIR3936HG, SLC22A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1924064	NM_003059.3(SLC22A4):c.1445-9G>A	MIR3936HG, SLC22A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1906350	NM_003059.3(SLC22A4):c.498-15T>C	MIR3936HG, SLC22A4	Single nucleotide variant (intron variant)	not provided	GLikely 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 1672527	NM_003059.3(SLC22A4):c.747T>C (p.Phe249=)	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 1669687	NM_003059.3(SLC22A4):c.339C>T (p.Cys113=)	SLC22A4	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1628142	NM_003059.3(SLC22A4):c.1445-8C>T	MIR3936HG, SLC22A4	Single nucleotide variant (intron variant)	not provided +1 more	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 1618477	NM_003059.3(SLC22A4):c.1236T>C (p.Leu412=)	MIR3936HG, SLC22A4	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1615351	NM_003059.3(SLC22A4):c.498-7T>C	MIR3936HG, SLC22A4	Single nucleotide variant (intron variant)	SLC22A4-related disorder +1 more	GBenign
Select item 1601499	NM_003059.3(SLC22A4):c.394-7318A>G	SLC22A4	Single nucleotide variant (intron variant)	not provided	GBenign
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 1568448	NM_003059.3(SLC22A4):c.78C>T (p.Ser26=)	SLC22A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1557207	NM_003059.3(SLC22A4):c.1261+19T>C	MIR3936HG, SLC22A4	Single nucleotide variant (intron variant)	not provided	GBenign

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