ClinVar for Gene (Select 57210) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3319890	NM_001286646.2(SLC45A4):c.865T>C (p.Ser289Pro)	SLC45A4 (S238P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319889	NM_001286646.2(SLC45A4):c.1234A>G (p.Met412Val)	SLC45A4 (M412V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3319888	NM_001286646.2(SLC45A4):c.1180G>A (p.Ala394Thr)	SLC45A4 (A394T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319887	NM_001286646.2(SLC45A4):c.281G>A (p.Ser94Asn)	SLC45A4 (S43N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319886	NM_001286646.2(SLC45A4):c.2261G>A (p.Arg754Gln)	SLC45A4 (R754Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319885	NM_001286646.2(SLC45A4):c.2186G>C (p.Gly729Ala)	SLC45A4 (G678A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319884	NM_001286646.2(SLC45A4):c.242-6476G>T	SLC45A4 (G9V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319883	NM_001286646.2(SLC45A4):c.2078G>A (p.Arg693His)	SLC45A4 (R642H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319882	NM_001286646.2(SLC45A4):c.*45G>A	SLC45A4 (C771Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319879	NM_001286646.2(SLC45A4):c.1664A>G (p.Asn555Ser)	SLC45A4 (N555S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319878	NM_001286646.2(SLC45A4):c.950C>T (p.Ala317Val)	SLC45A4 (A317V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319877	NM_001286646.2(SLC45A4):c.736G>A (p.Val246Met)	SLC45A4 (V195M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319876	NM_001286646.2(SLC45A4):c.917A>G (p.Lys306Arg)	SLC45A4 (K255R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319875	NM_001286646.2(SLC45A4):c.2351C>T (p.Pro784Leu)	SLC45A4 (R731C +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3319874	NM_001286646.2(SLC45A4):c.1529G>A (p.Arg510Gln)	SLC45A4 (R459Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319873	NM_001286646.2(SLC45A4):c.1208C>T (p.Thr403Met)	SLC45A4 (T352M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3164923	NM_001286646.2(SLC45A4):c.1081A>G (p.Thr361Ala)	SLC45A4 (T310A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164922	NM_001286646.2(SLC45A4):c.970C>A (p.Leu324Met)	SLC45A4 (L273M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164921	NM_001286646.2(SLC45A4):c.929C>T (p.Ala310Val)	SLC45A4 (A310V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3164920	NM_001286646.2(SLC45A4):c.866C>T (p.Ser289Leu)	SLC45A4 (S238L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164919	NM_001286646.2(SLC45A4):c.838G>A (p.Val280Ile)	SLC45A4 (V280I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3164918	NM_001286646.2(SLC45A4):c.809G>A (p.Gly270Asp)	SLC45A4 (G219D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164917	NM_001286646.2(SLC45A4):c.796G>C (p.Ala266Pro)	SLC45A4 (A266P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164916	NM_001286646.2(SLC45A4):c.683G>A (p.Arg228Gln)	SLC45A4 (R177Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164915	NM_001286646.2(SLC45A4):c.668T>A (p.Leu223Gln)	SLC45A4 (L172Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164914	NM_001286646.2(SLC45A4):c.482C>T (p.Thr161Met)	SLC45A4 (T110M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164913	NM_001286646.2(SLC45A4):c.445G>A (p.Asp149Asn)	SLC45A4 (D98N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164912	NM_001286646.2(SLC45A4):c.400G>A (p.Val134Ile)	SLC45A4 (V134I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164911	NM_001286646.2(SLC45A4):c.2352G>A (p.Pro784=)	SLC45A4 (R731H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164910	NM_001286646.2(SLC45A4):c.370C>T (p.Leu124Phe)	SLC45A4 (L124F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164909	NM_001286646.2(SLC45A4):c.2293G>C (p.Glu765Gln)	SLC45A4 (E765Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164908	NM_001286646.2(SLC45A4):c.2282C>T (p.Pro761Leu)	SLC45A4 (P710L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3164907	NM_001286646.2(SLC45A4):c.356G>A (p.Arg119Gln)	SLC45A4 (R119Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164906	NM_001286646.2(SLC45A4):c.2089A>G (p.Met697Val)	SLC45A4 (M697V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164905	NM_001286646.2(SLC45A4):c.2074G>T (p.Val692Phe)	SLC45A4 (V641F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164903	NM_001286646.2(SLC45A4):c.1933A>G (p.Ile645Val)	SLC45A4 (I594V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164902	NM_001286646.2(SLC45A4):c.1844A>G (p.Tyr615Cys)	SLC45A4 (Y615C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164901	NM_001286646.2(SLC45A4):c.1591G>A (p.Asp531Asn)	SLC45A4 (D480N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164899	NM_001286646.2(SLC45A4):c.1463G>A (p.Gly488Glu)	SLC45A4 (G488E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164898	NM_001286646.2(SLC45A4):c.1391G>A (p.Arg464Gln)	SLC45A4 (R413Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164897	NM_001286646.2(SLC45A4):c.1358G>A (p.Arg453His)	SLC45A4 (R402H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164896	NM_001286646.2(SLC45A4):c.1240C>T (p.Arg414Trp)	SLC45A4 (R414W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164895	NM_001286646.2(SLC45A4):c.1223C>T (p.Thr408Met)	SLC45A4 (T357M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164894	NM_001286646.2(SLC45A4):c.254A>C (p.Gln85Pro)	SLC45A4 (Q85P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3024645	GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3	NRBP2, NSMCE2 +173 more	Copy number gain	not provided	GPathogenic
Select item 2685045	GRCh37/hg19 8q24.3(chr8:141825923-142558013)x4	DENND3, GPR20 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684556	GRCh37/hg19 8q24.3(chr8:141419599-146295771)x3	ADCK5, ADGRB1 +95 more	Copy number gain	not provided	GPathogenic
Select item 2658873	NM_001286646.2(SLC45A4):c.340C>T (p.Leu114=)	SLC45A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658872	NM_001286646.2(SLC45A4):c.1464G>A (p.Gly488=)	SLC45A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2623212	NM_001286646.2(SLC45A4):c.851C>T (p.Pro284Leu)	SLC45A4 (P284L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621089	NM_001286646.2(SLC45A4):c.1828A>G (p.Met610Val)	SLC45A4 (M610V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618309	NM_001286646.2(SLC45A4):c.242-6467G>T	SLC45A4 (R12L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614699	NM_001286646.2(SLC45A4):c.345C>G (p.Ser115Arg)	SLC45A4 (S115R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594998	NM_001286646.2(SLC45A4):c.1947C>G (p.Ile649Met)	SLC45A4 (I598M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588054	NM_001286646.2(SLC45A4):c.2065G>A (p.Val689Met)	SLC45A4 (V638M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2578018	GRCh37/hg19 8q24.21-24.3(chr8:131138343-143473913)	SLA, TRAPPC9 +29 more	Copy number gain	Distal trisomy 8q	GPathogenic
Select item 2554115	NM_001286646.2(SLC45A4):c.1315C>T (p.Arg439Cys)	SLC45A4 (R439C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553618	NM_001286646.2(SLC45A4):c.1252G>A (p.Ala418Thr)	SLC45A4 (A418T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552256	NM_001286646.2(SLC45A4):c.242-6467G>C	SLC45A4 (R12P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549576	NM_001286646.2(SLC45A4):c.1406G>A (p.Arg469Gln)	SLC45A4 (R469Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546448	NM_001286646.2(SLC45A4):c.1750G>C (p.Asp584His)	SLC45A4 (D533H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540889	NM_001286646.2(SLC45A4):c.*43G>T	SLC45A4 (L770F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536182	NM_001286646.2(SLC45A4):c.1057A>C (p.Lys353Gln)	SLC45A4 (K302Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517910	NM_001286646.2(SLC45A4):c.811G>A (p.Ala271Thr)	SLC45A4 (A220T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512019	NM_001286646.2(SLC45A4):c.1259G>A (p.Arg420His)	SLC45A4 (R369H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490818	NM_001286646.2(SLC45A4):c.2077C>G (p.Arg693Gly)	SLC45A4 (R693G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488215	NM_001286646.2(SLC45A4):c.898G>A (p.Val300Met)	SLC45A4 (V249M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477792	NM_001286646.2(SLC45A4):c.443G>T (p.Gly148Val)	SLC45A4 (G148V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477791	NM_001286646.2(SLC45A4):c.1199G>T (p.Arg400Met)	SLC45A4 (R349M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476732	NM_001286646.2(SLC45A4):c.1609A>G (p.Ile537Val)	SLC45A4 (I537V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461776	NM_001286646.2(SLC45A4):c.1033C>G (p.Arg345Gly)	SLC45A4 (R345G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461717	NM_001286646.2(SLC45A4):c.796G>A (p.Ala266Thr)	SLC45A4 (A215T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2460712	NM_001286646.2(SLC45A4):c.1966T>G (p.Ser656Ala)	SLC45A4 (S605A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458240	NM_001286646.2(SLC45A4):c.2414T>C (p.Met805Thr)	SLC45A4 (C752R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2456259	NM_001286646.2(SLC45A4):c.1054G>C (p.Ala352Pro)	SLC45A4 (A301P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406662	NM_001286646.2(SLC45A4):c.2334G>A (p.Ser778=)	SLC45A4 (R725H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406530	NM_001286646.2(SLC45A4):c.2266G>A (p.Glu756Lys)	SLC45A4 (E705K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404002	NM_001286646.2(SLC45A4):c.358C>G (p.Arg120Gly)	SLC45A4 (R69G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402997	NM_001286646.2(SLC45A4):c.1310G>A (p.Cys437Tyr)	SLC45A4 (C437Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401970	NM_001286646.2(SLC45A4):c.1840G>A (p.Val614Ile)	SLC45A4 (V563I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400989	NM_001286646.2(SLC45A4):c.466A>G (p.Ile156Val)	SLC45A4 (I105V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375292	NM_001286646.2(SLC45A4):c.858G>T (p.Glu286Asp)	SLC45A4 (E235D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375010	NM_001286646.2(SLC45A4):c.242-6467G>A	SLC45A4 (R12H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367599	NM_001286646.2(SLC45A4):c.1274G>A (p.Ser425Asn)	SLC45A4 (S374N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363890	NM_001286646.2(SLC45A4):c.1189G>A (p.Gly397Ser)	SLC45A4 (G346S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356692	NM_001286646.2(SLC45A4):c.791G>A (p.Arg264His)	SLC45A4 (R213H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349972	NM_001286646.2(SLC45A4):c.1849G>A (p.Ala617Thr)	SLC45A4 (A566T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344879	NM_001286646.2(SLC45A4):c.634G>A (p.Val212Met)	SLC45A4 (V212M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344496	NM_001286646.2(SLC45A4):c.1984A>T (p.Ile662Leu)	SLC45A4 (I611L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342099	NM_001286646.2(SLC45A4):c.323C>T (p.Ala108Val)	SLC45A4 (A108V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339513	NM_001286646.2(SLC45A4):c.1033C>T (p.Arg345Cys)	SLC45A4 (R294C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306047	NM_001286646.2(SLC45A4):c.2417G>T (p.Trp806Leu)	SLC45A4 (G753C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292113	NM_001286646.2(SLC45A4):c.1011C>G (p.Asp337Glu)	SLC45A4 (D286E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289544	NM_001286646.2(SLC45A4):c.1073G>A (p.Arg358His)	SLC45A4 (R307H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278694	NM_001286646.2(SLC45A4):c.1943A>G (p.Tyr648Cys)	SLC45A4 (Y597C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277493	NM_001286646.2(SLC45A4):c.2291C>G (p.Thr764Arg)	SLC45A4 (T713R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276006	NM_001286646.2(SLC45A4):c.943G>A (p.Asp315Asn)	SLC45A4 (D315N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253050	NM_001286646.2(SLC45A4):c.1468G>A (p.Gly490Ser)	SLC45A4 (G439S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248326	NM_001286646.2(SLC45A4):c.656C>T (p.Thr219Ile)	SLC45A4 (T219I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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