SLC45A4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001173, LOC130001174 +1068 more	Copy number gain	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC130001070, LOC130001071 +962 more	Copy number gain	See cases	GPathogenic
Select item 148271	GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3	ADCK5, ADCY8 +746 more	Copy number gain	See cases	GPathogenic
Select item 33826	GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3	LOC130001144, LOC130001145 +745 more	Copy number gain	See cases	GPathogenic
Select item 57179	GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3	ADCK5, ADCY8 +567 more	Copy number gain	See cases	GPathogenic
Select item 144139	GRCh38/hg38 8q24.21-24.3(chr8:130115518-141228210)x3	CCN4, CHRAC1 +206 more	Copy number gain	See cases	GPathogenic
Select item 148571	GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3	EPPK1, ERICD +499 more	Copy number gain	See cases	GPathogenic
Select item 148265	GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3	TOP1MT, TRAPPC9 +373 more	Copy number gain	See cases	GLikely pathogenic
Select item 148392	GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3	ADCK5, ADGRB1 +375 more	Copy number gain	See cases	GLikely pathogenic
Select item 58432	GRCh38/hg38 8q24.3(chr8:141131265-142117372)x3	ASTILCS, C8orf90 +30 more	Copy number gain	See cases	GUncertain significance
Select item 2240177	NM_001286646.2(SLC45A4):c.*77G>A	SLC45A4 (A782T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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 2540889	NM_001286646.2(SLC45A4):c.*43G>T	SLC45A4 (L770F)	Single nucleotide variant (missense variant +1 more)	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 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 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 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 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 776388	NM_001286646.2(SLC45A4):c.2302-3T>C	SLC45A4	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 790614	NM_001286646.2(SLC45A4):c.2268G>C (p.Glu756Asp)	SLC45A4 (E705D +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 787875	NM_001286646.2(SLC45A4):c.2259G>A (p.Thr753=)	SLC45A4	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2220914	NM_001286646.2(SLC45A4):c.2155G>A (p.Val719Met)	SLC45A4 (V668M +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 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 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 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 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 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 2236838	NM_001286646.2(SLC45A4):c.1967C>G (p.Ser656Cys)	SLC45A4 (S605C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 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 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 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 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 773507	NM_001286646.2(SLC45A4):c.1838A>G (p.Asn613Ser)	SLC45A4 (N613S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 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 2218519	NM_001286646.2(SLC45A4):c.1648G>T (p.Ala550Ser)	SLC45A4 (A499S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787876	NM_001286646.2(SLC45A4):c.1647C>T (p.Thr549=)	SLC45A4	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 716980	NM_001286646.2(SLC45A4):c.1578C>A (p.Ala526=)	SLC45A4	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 2658872	NM_001286646.2(SLC45A4):c.1464G>A (p.Gly488=)	SLC45A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 786129	NM_001286646.2(SLC45A4):c.1353G>A (p.Pro451=)	SLC45A4	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 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 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 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 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 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 787877	NM_001286646.2(SLC45A4):c.1226C>T (p.Ser409Leu)	SLC45A4 (S358L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2219353	NM_001286646.2(SLC45A4):c.1222A>T (p.Thr408Ser)	SLC45A4 (T357S +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 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 787334	NM_001286646.2(SLC45A4):c.1194C>T (p.Tyr398=)	SLC45A4	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 1341739	NM_001286646.2(SLC45A4):c.1108G>A (p.Asp370Asn)	SLC45A4 (D319N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 776389	NM_001286646.2(SLC45A4):c.1104G>A (p.Lys368=)	SLC45A4	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 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 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 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 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 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 2241657	NM_001286646.2(SLC45A4):c.985G>A (p.Asp329Asn)	SLC45A4 (D278N +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 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 2276006	NM_001286646.2(SLC45A4):c.943G>A (p.Asp315Asn)	SLC45A4 (D315N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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