"GeneDx"[submitter] AND "OGT"[gene] - ClinVar

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Search results

Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145980	GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1	HDAC8, HDX +410 more	Copy number loss	See cases	GPathogenic
Select item 145167	GRCh38/hg38 Xq11.1-21.1(chrX:62712219-78605009)x3	ABCB7, AMER1 +263 more	Copy number gain	See cases	GPathogenic
Select item 58641	GRCh38/hg38 Xq12-13.3(chrX:68382004-75243150)x2	ABCB7, ARR3 +161 more	Copy number gain	See cases	GPathogenic
Select item 1301234	NM_181672.3(OGT):c.3G>A (p.Met1Ile)	LOC126863277, OGT (M1I)	Single nucleotide variant (missense variant +1 more)	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 2444810	NM_181672.3(OGT):c.51T>C (p.Arg17=)	OGT	Single nucleotide variant (synonymous variant +1 more)	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 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 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 638525	NM_181672.3(OGT):c.349C>T (p.Arg117Cys)	OGT (R107C +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 106 +1 more	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 3253494	NM_181672.3(OGT):c.412G>A (p.Asp138Asn)	OGT (D128N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 3368344	NM_181672.3(OGT):c.713C>G (p.Ala238Gly)	OGT (A228G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253193	NM_181672.3(OGT):c.755T>A (p.Leu252Gln)	OGT (L242Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1231366	NM_181672.3(OGT):c.925-114del	OGT	Deletion (intron variant)	not provided	GBenign
Select item 1242328	NM_181672.3(OGT):c.925-102A>G	OGT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1304081	NM_181672.3(OGT):c.974C>T (p.Thr325Ile)	OGT (T315I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3378349	NM_181672.3(OGT):c.1124G>A (p.Gly375Glu)	OGT (G365E +1 more)	Single nucleotide variant (missense variant)	not provided	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 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 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 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 1233568	NM_181672.3(OGT):c.1515G>A (p.Val505=)	OGT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1300465	NM_181672.3(OGT):c.1567A>G (p.Ile523Val)	OGT (I513V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1301100	NM_181672.3(OGT):c.1603A>G (p.Ile535Val)	OGT (I525V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3235222	NM_181672.3(OGT):c.1708A>G (p.Thr570Ala)	OGT (T560A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1186977	NM_181672.3(OGT):c.1769G>T (p.Cys590Phe)	OGT (C580F +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 3370751	NM_181672.3(OGT):c.1932G>C (p.Lys644Asn)	OGT (K634N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3378022	NM_181672.3(OGT):c.1981A>G (p.Met661Val)	OGT (M651V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373053	NM_181672.3(OGT):c.1991G>C (p.Gly664Ala)	OGT (G654A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252384	NM_181672.3(OGT):c.2039A>C (p.Asp680Ala)	OGT (D670A +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 3363380	NM_181672.3(OGT):c.2163C>T (p.Ile721=)	OGT	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 681374	NM_181672.3(OGT):c.2266-4del	OGT	Deletion (intron variant)	not provided	GBenign/Likely benign
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 3363688	NM_181672.3(OGT):c.2320A>G (p.Met774Val)	OGT (M764V +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 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 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 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 1304341	NM_181672.3(OGT):c.2541T>G (p.Phe847Leu)	OGT (F837L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1300620	NM_181672.3(OGT):c.2609A>G (p.Asn870Ser)	OGT (N860S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 689775	NM_181672.3(OGT):c.2795C>T (p.Thr932Ile)	OGT (T932I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
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 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 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 3343217	NM_181672.3(OGT):c.3013C>T (p.Pro1005Ser)	OGT (P1005S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303741	NM_181672.3(OGT):c.3040A>G (p.Met1014Val)	OGT (M1004V +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 3373759	NM_181672.3(OGT):c.3077A>G (p.His1026Arg)	OGT (H1016R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303919	NM_181672.3(OGT):c.3093C>G (p.Asn1031Lys)	OGT (N1021K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253616	GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253572	GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253436	GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3	ABCB7, AKAP4 +250 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARL13A, ARMCX1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	HDAC6, HTATSF1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 3359389	NM_181672.3(OGT):c.1940G>A (p.Arg647Gln)	OGT (R637Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359318	NM_181672.3(OGT):c.2921A>G (p.Gln974Arg)	OGT (Q964R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 73