ClinVar for Gene (Select 8473) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062482	GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79122848)	ABCB7, AMER1 +92 more	Copy number gain	not specified	GPathogenic
Select item 3062468	GRCh37/hg19 Xq13.1-22.1(chrX:68040342-100863081)	ABCB7, APOOL +121 more	Copy number gain	not specified	GPathogenic
Select item 3061687	NM_181672.3(OGT):c.522A>C (p.Glu174Asp)	OGT (E164D +1 more)	Single nucleotide variant (missense variant)	OGT-related condition	GUncertain significance
Select item 3040554	NM_181672.3(OGT):c.1536A>G (p.Leu512=)	OGT	Single nucleotide variant (synonymous variant)	OGT-related condition	GLikely benign
Select item 3027080	NM_181672.3(OGT):c.427G>A (p.Val143Ile)	OGT (V133I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	ALG13, AMMECR1 +488 more	Copy number gain	not provided	GPathogenic
Select item 3023016	NM_181672.3(OGT):c.2266-4dup	OGT	Duplication (intron variant)	not provided	GBenign
Select item 3020780	NM_181672.3(OGT):c.2265+16G>A	OGT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2981214	NM_181672.3(OGT):c.2079C>T (p.Ser693=)	OGT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2980892	NM_181672.3(OGT):c.3057C>T (p.Leu1019=)	OGT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962329	NM_181672.3(OGT):c.1125A>T (p.Gly375=)	OGT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960927	NM_181672.3(OGT):c.1977+12A>G	OGT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2909471	NM_181672.3(OGT):c.313T>C (p.Leu105=)	OGT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906955	NM_181672.3(OGT):c.684T>C (p.Tyr228=)	OGT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2883356	NM_181672.3(OGT):c.1953T>C (p.Phe651=)	OGT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2845947	NM_181672.3(OGT):c.1020G>A (p.Gln340=)	OGT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2831192	NM_181672.3(OGT):c.3089G>T (p.Gly1030Val)	OGT (G1020V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2788903	NM_181672.3(OGT):c.1856C>T (p.Pro619Leu)	OGT (P609L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2759272	NM_181672.3(OGT):c.19A>C (p.Asn7His)	LOC126863277, OGT (N7H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2718903	NM_181672.3(OGT):c.2856T>C (p.Ala952=)	OGT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2696287	NM_181672.3(OGT):c.2745C>G (p.Gly915=)	OGT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2663780	NC_000023.11:g.(?_66445907)_(78172208_?)dup	KIF4A, LOC130068402 +206 more	Duplication	Xq13q21 duplication	GPathogenic
Select item 2660885	NM_181672.3(OGT):c.2102A>G (p.His701Arg)	OGT (H691R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660884	NM_181672.3(OGT):c.161A>G (p.Asn54Ser)	OGT (N44S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2637957	NM_181672.3(OGT):c.1709C>T (p.Thr570Ile)	OGT (T560I +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 106	GUncertain significance
Select item 2632277	NM_181672.3(OGT):c.1663C>T (p.Arg555Trp)	OGT (R545W +1 more)	Single nucleotide variant (missense variant)	OGT-related condition	GUncertain significance
Select item 2615074	NM_181672.3(OGT):c.2113A>G (p.Ile705Val)	OGT (I695V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582590	NM_181672.3(OGT):c.1529G>A (p.Ser510Asn)	OGT (S500N +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 106	GLikely pathogenic
Select item 2582560	NM_181672.3(OGT):c.2429C>G (p.Thr810Ser)	OGT (T800S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 106 +1 more	GUncertain significance
Select item 2582047	NM_181672.3(OGT):c.85C>T (p.His29Tyr)	OGT (H19Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579099	NM_181672.3(OGT):c.1522C>T (p.His508Tyr)	OGT (H498Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2577949	NM_181672.3(OGT):c.1412A>T (p.His471Leu)	OGT (H461L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2576645	NM_181672.3(OGT):c.1295A>G (p.His432Arg)	OGT (H422R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574228	NM_181672.3(OGT):c.1454G>A (p.Arg485Gln)	OGT (R475Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573831	NM_181672.3(OGT):c.2456C>G (p.Thr819Ser)	OGT (T809S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2538306	NM_181672.3(OGT):c.210G>T (p.Arg70Ser)	OGT (R70S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506734	NM_181672.3(OGT):c.352C>T (p.Leu118Phe)	OGT (L108F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2502553	NM_181672.3(OGT):c.241G>A (p.Ala81Thr)	OGT (A71T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500562	NM_181672.3(OGT):c.2132T>C (p.Met711Thr)	OGT (M701T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499752	NM_181672.3(OGT):c.2937A>G (p.Ile979Met)	OGT (I969M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446118	NM_181672.3(OGT):c.3059A>G (p.Tyr1020Cys)	OGT (Y1010C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2444819	NM_181672.3(OGT):c.66A>G (p.Gln22=)	OGT	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2444810	NM_181672.3(OGT):c.51T>C (p.Arg17=)	OGT	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2442184	NM_181672.3(OGT):c.140T>G (p.Leu47Arg)	OGT (L37R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 106	GUncertain significance
Select item 2441772	NM_181672.3(OGT):c.1357C>G (p.Arg453Gly)	OGT (R443G +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 106	GUncertain significance
Select item 2434501	NM_181672.3(OGT):c.2218G>A (p.Asp740Asn)	OGT (D730N +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 106	GUncertain significance
Select item 2434500	NM_181672.3(OGT):c.2855C>T (p.Ala952Val)	OGT (A942V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 106	GUncertain significance
Select item 2278360	NM_181672.3(OGT):c.2284G>A (p.Gly762Arg)	OGT (G762R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220963	NM_181672.3(OGT):c.2695C>T (p.Arg899Cys)	OGT (R889C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2076130	NM_181672.3(OGT):c.552T>C (p.Ile184=)	OGT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2062308	NM_181672.3(OGT):c.2696G>A (p.Arg899His)	OGT (R889H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2059816	NM_181672.3(OGT):c.2841A>G (p.Pro947=)	OGT	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2054498	NM_181672.3(OGT):c.218+16del	OGT	Deletion (intron variant)	not provided	GBenign
Select item 2047562	NM_181672.3(OGT):c.1166+7G>T	OGT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2033194	NM_181672.3(OGT):c.1065+14G>A	OGT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2005900	NM_181672.3(OGT):c.2395A>G (p.Ile799Val)	OGT (I789V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1992388	NM_181672.3(OGT):c.1664G>A (p.Arg555Gln)	OGT (R555Q +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 106	GUncertain significance
Select item 1988719	NM_181672.3(OGT):c.1254T>C (p.Tyr418=)	OGT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1957471	NM_181672.3(OGT):c.1603-18A>G	OGT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1878742	NM_181672.3(OGT):c.2491A>G (p.Thr831Ala)	OGT (T821A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1805807	NM_181672.3(OGT):c.2723A>G (p.Lys908Arg)	OGT (K898R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 106	GUncertain significance
Select item 1804018	NM_181672.3(OGT):c.3139T>C (p.Ter1047Gln)	OGT	Single nucleotide variant (stop lost)	Intellectual disability, X-linked 106	GLikely pathogenic
Select item 1801103	NM_181672.3(OGT):c.458A>G (p.Asn153Ser)	OGT (N143S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712281	NM_181672.3(OGT):c.3029A>G (p.Lys1010Arg)	OGT (K1000R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 106 +2 more	GUncertain significance
Select item 1712178	NM_181672.3(OGT):c.2980C>T (p.Arg994Cys)	OGT (R984C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1709135	NM_181672.3(OGT):c.596G>A (p.Cys199Tyr)	OGT (C189Y +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 106	GUncertain significance
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	MIR224, MIR424 +793 more	Copy number loss	See cases	GPathogenic
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	CT55, CT83 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703584	GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731)	H2AB3, H2BW1 +502 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +822 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	SCML2, SEPTIN6 +822 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1695308	NM_181672.3(OGT):c.1185T>G (p.Ala395=)	OGT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1684974	NM_181672.3(OGT):c.531+6T>C	OGT	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1656734	NM_181672.3(OGT):c.345A>C (p.Ala115=)	OGT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1655649	NM_181672.3(OGT):c.2436+17A>G	OGT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1631716	NM_181672.3(OGT):c.1500T>C (p.Asn500=)	OGT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1616515	NM_181672.3(OGT):c.1884C>T (p.Ile628=)	OGT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1615686	NM_181672.3(OGT):c.2589+19del	OGT	Deletion (intron variant)	not provided	GBenign
Select item 1601086	NM_181672.3(OGT):c.2652T>G (p.Pro884=)	OGT	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1546685	NM_181672.3(OGT):c.1141C>T (p.Leu381=)	OGT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1533688	NM_181672.3(OGT):c.729-16G>A	OGT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1526804	GRCh37/hg19 Xq11.1-21.1(chrX:61974855-79123671)	ABCB7, AMER1 +92 more	Copy number gain	not specified	GPathogenic
Select item 1526803	GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79123671)	ABCB7, AMER1 +92 more	Copy number gain	not specified	GPathogenic
Select item 1524482	NM_181672.3(OGT):c.1362G>A (p.Thr454=)	OGT	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1341642	NM_181672.3(OGT):c.2302A>G (p.Ser768Gly)	OGT (S758G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	CXorf51B, GAGE12H +821 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	ABCB7, ABCD1 +821 more	Copy number gain	not provided	GPathogenic
Select item 1334435	NM_181672.3(OGT):c.929C>T (p.Ala310Val)	OGT (A300V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 106	GUncertain significance
Select item 1334083	NM_181672.3(OGT):c.2693A>G (p.Asn898Ser)	OGT (N888S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 106	GUncertain significance
Select item 1331182	NM_181672.3(OGT):c.1292C>T (p.Ala431Val)	OGT (A421V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1328731	NM_181672.3(OGT):c.2836A>G (p.Met946Val)	OGT (M936V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319673	NM_181672.3(OGT):c.563C>T (p.Pro188Leu)	OGT (P178L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1314305	NM_181672.3(OGT):c.1974T>G (p.Ile658Met)	OGT (I648M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313143	NM_181672.3(OGT):c.1361C>T (p.Thr454Met)	OGT (T444M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1312795	NM_181672.3(OGT):c.464A>T (p.Asp155Val)	OGT (D145V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306910	NM_181672.3(OGT):c.1864G>A (p.Gly622Arg)	OGT (G612R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306410	NM_181672.3(OGT):c.2388A>T (p.Gln796His)	OGT (Q786H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304686	NM_181672.3(OGT):c.28G>A (p.Asp10Asn)	LOC126863277, OGT (D10N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304341	NM_181672.3(OGT):c.2541T>G (p.Phe847Leu)	OGT (F837L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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