OTC[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 488014	Single allele	ARMCX3, CT47A11 +2631 more	Duplication	Autism +1 more	GPathogenic
Select item 146764	GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1	HMGN5, HNRNPH2 +2633 more	Copy number loss	See cases	GPathogenic
Select item 160983	GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	LOC130068194, LOC130068195 +2632 more	Copy number loss	See cases	GPathogenic
Select item 160897	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	LOC126863191, LOC126863192 +2633 more	Copy number gain	See cases	GPathogenic
Select item 160890	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	LOC130068432, LOC130068433 +2633 more	Copy number loss	See cases	GPathogenic
Select item 148082	GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1	GPM6B, GPR143 +919 more	Copy number loss	See cases	GPathogenic
Select item 148051	GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3	IL1RAPL1, IL2RG +1398 more	Copy number gain	See cases	GPathogenic
Select item 148018	GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1	LOC130068090, LOC130068091 +1013 more	Copy number loss	See cases	GPathogenic
Select item 145623	GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3	MIR362, MIR3690 +1024 more	Copy number gain	See cases	GPathogenic
Select item 144263	GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1	LOC130067937, LOC130067936 +983 more	Copy number loss	See cases	GPathogenic
Select item 144172	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4	LOC130068031, LOC130068032 +2633 more	Copy number gain	See cases	GPathogenic
Select item 59181	GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1	ACE2, ACE2-DT +818 more	Copy number loss	See cases	GPathogenic
Select item 57339	GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1	LOC130068111, LOC130068112 +1022 more	Copy number loss	See cases	GPathogenic
Select item 57087	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	LOC110120594, LOC110120595 +2633 more	Copy number loss	See cases	GPathogenic
Select item 57086	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	LOC130067964, LOC130067965 +2633 more	Copy number gain	See cases	GPathogenic
Select item 155281	GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1	RPGR, RPS6KA3 +1041 more	Copy number loss	See cases	GPathogenic
Select item 154558	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3	CT45A7, CT45A8 +2632 more	Copy number gain	See cases	GPathogenic
Select item 152052	GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1	LOC130068171, LOC130068172 +1069 more	Copy number loss	See cases	GPathogenic
Select item 150510	GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1	ASMT, ASMTL +1475 more	Copy number loss	See cases	GPathogenic
Select item 150498	GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1	LOC130068270, LOC130068271 +1163 more	Copy number loss	See cases	GPathogenic
Select item 148821	GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1	LOC129391293, LOC129391294 +1628 more	Copy number loss	See cases	GPathogenic
Select item 148478	GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1	NBDY, NDP +1163 more	Copy number loss	See cases	GPathogenic
Select item 148356	GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1	ACE2, ACE2-DT +1008 more	Copy number loss	See cases	GPathogenic
Select item 148339	GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1	LOC130068093, LOC130068094 +909 more	Copy number loss	See cases	GPathogenic
Select item 146861	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1	ABCB7, ABCD1 +2632 more	Copy number loss	See cases	GPathogenic
Select item 146857	GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708)	FANCB, FGD1 +1932 more	Copy number loss	See cases	GPathogenic
Select item 145166	GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1	ACE2, ACE2-DT +1163 more	Copy number loss	See cases	GPathogenic
Select item 144544	GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1	PDHA1, PDK3 +1163 more	Copy number loss	See cases	GPathogenic
Select item 144465	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1	ABCB7, ABCD1 +2632 more	Copy number loss	See cases	GPathogenic
Select item 144429	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3	AP1S2, APEX2 +2632 more	Copy number gain	See cases	GPathogenic
Select item 144335	GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1	LOC116309152, LOC116309153 +1024 more	Copy number loss	See cases	GPathogenic
Select item 144310	GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1	TIMM8A, TIMP1 +2631 more	Copy number loss	See cases	GPathogenic
Select item 161089	GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	LOC119407398, LOC119407399 +2632 more	Copy number loss	See cases	GPathogenic
Select item 57161	GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1	FAM223B, FAM226A +2628 more	Copy number loss	See cases	GPathogenic
Select item 57160	GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3	LOC126863207, LOC126863208 +2628 more	Copy number gain	See cases	GPathogenic
Select item 152900	GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3	LOC130068458, LOC130068459 +2633 more	Copy number gain	See cases	GPathogenic
Select item 145995	GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1	LOC113875011, LOC113875012 +2633 more	Copy number loss	See cases	GPathogenic
Select item 145162	GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3	ABCB7, ABCD1 +2632 more	Copy number gain	See cases	GPathogenic
Select item 58553	GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3	LOC130068362, LOC130068363 +2632 more	Copy number gain	See cases	GPathogenic
Select item 161091	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	ABCB7, ABCD1 +2631 more	Copy number gain	See cases	GPathogenic
Select item 161088	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	LOC130068054, LOC130068055 +2631 more	Copy number loss	See cases	GPathogenic
Select item 59186	GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1	USP27X-DT, USP51 +1154 more	Copy number loss	See cases	GPathogenic
Select item 58555	GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3	LOC126863302, LOC126863303 +2631 more	Copy number gain	See cases	GPathogenic
Select item 147257	GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1	LOC119407406, LOC119407407 +2632 more	Copy number loss	See cases	GPathogenic
Select item 155374	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1	ACOT9, ABCB7 +2632 more	Copy number loss	See cases	GPathogenic
Select item 155366	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3	LOC126863301, LOC126863302 +2632 more	Copy number gain	See cases	GPathogenic
Select item 155063	GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1	PAGE2, PAGE2B +1130 more	Copy number loss	See cases	GPathogenic
Select item 153937	GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3	LOC130067921, LOC130067922 +1798 more	Copy number gain	See cases	GPathogenic
Select item 153302	GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1	LOC130068116, LOC130068117 +986 more	Copy number loss	See cases	GPathogenic
Select item 155152	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3	LOC126863205, LOC126863206 +2632 more	Copy number gain	See cases	GPathogenic
Select item 154249	GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1	ACE2, ACE2-DT +1216 more	Copy number loss	See cases	GPathogenic
Select item 153753	GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1	LOC125467747, LOC125467748 +999 more	Copy number loss	See cases	GPathogenic
Select item 152158	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1	LOC107985687, LOC107988021 +2632 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 152157	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4	LOC130067947, LOC130067948 +2632 more	Copy number gain	See cases	GPathogenic
Select item 151130	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3	CT45A3, CT45A5 +2632 more	Copy number gain	See cases	GPathogenic
Select item 59190	GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1	PRAF2, PRDX4 +1163 more	Copy number loss	See cases	GPathogenic
Select item 59200	GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1	LOC129391306, LOC129391307 +1493 more	Copy number loss	See cases	GPathogenic
Select item 58559	GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3	LOC130067912, LOC130067913 +708 more	Copy number gain	See cases	GPathogenic
Select item 150422	GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1	CDKL5, CDR1 +2611 more	Copy number loss	See cases	GPathogenic
Select item 152899	GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3	ABCB7, ABCD1 +2603 more	Copy number gain	See cases	GPathogenic
Select item 147627	GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3	LOC126863296, LOC126863297 +2593 more	Copy number gain	See cases	GPathogenic
Select item 59202	GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1	PDHA1, PDK3 +1130 more	Copy number loss	See cases	GPathogenic
Select item 147683	GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2	LOC130068368, LOC130068369 +2593 more	Copy number gain	See cases	GPathogenic
Select item 58586	GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3	LOC130067891, LOC130067892 +2595 more	Copy number gain	See cases	GPathogenic
Select item 57225	GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2	LOC130068100, LOC130068101 +2585 more	Copy number gain	See cases	GPathogenic
Select item 152748	GRCh38/hg38 Xp22.33-11.4(chrX:3909315-38682287)x3	ACE2, ACE2-DT +488 more	Copy number gain	See cases	GUncertain significance
Select item 145979	GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1	LOC130068028, LOC130068029 +960 more	Copy number loss	See cases	GPathogenic
Select item 149705	GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1	ABCB7, ACE2 +2046 more	Copy number loss	See cases	GPathogenic
Select item 146240	GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1	ABCB7, ABCD1 +2102 more	Copy number loss	See cases	GPathogenic
Select item 145974	GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1	ABCB7, ABCD1 +2098 more	Copy number loss	See cases	GPathogenic
Select item 680700	NM_001407092.1(OTC):c.-79-582C>T	OTC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680702	NM_001407092.1(OTC):c.-79-567G>A	OTC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283242	NC_000023.11:g.38352178TTCT[1]	OTC	Microsatellite	not provided	GBenign
Select item 516560	NM_000531.3(OTC):c.-441G=	OTC	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 3051591	NM_000531.3(OTC):c.-437T>C	OTC	Single nucleotide variant (intron variant)	OTC-related condition	GUncertain significance
Select item 516756	NM_000531.6(OTC):c.-366A>G	OTC	Single nucleotide variant	Ornithine carbamoyltransferase deficiency +3 more	GBenign/Likely benign
Select item 380178	NM_000531.6(OTC):c.-365G>A	OTC	Single nucleotide variant	not specified	GBenign
Select item 516401	NM_000531.6(OTC):c.-359G>A	OTC	Single nucleotide variant	not specified	GBenign
Select item 1190289	NC_000023.11:g.38352403G>A	OTC	Single nucleotide variant	not provided	GLikely benign
Select item 487480	NM_000531.5(OTC):c.-157T>G	OTC	Single nucleotide variant (genic upstream transcript variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 3071198	NM_000531.5(OTC):c.-143T>C	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 487342	NM_000531.5(OTC):c.-142G>A	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 487341	NM_000531.5(OTC):c.-139A>G	OTC	Single nucleotide variant (genic upstream transcript variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 487343	NM_000531.5(OTC):c.-116C>T	OTC	Single nucleotide variant (genic upstream transcript variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 487344	NM_000531.5(OTC):c.-115C>T	OTC	Single nucleotide variant (genic upstream transcript variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 487338	NM_000531.5(OTC):c.-106C>A	OTC	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 368256	NM_000531.6(OTC):c.-48G>T	OTC	Single nucleotide variant (5 prime UTR variant)	Ornithine carbamoyltransferase deficiency +1 more	GBenign/Likely benign
Select item 3074790	NM_000531.6(OTC):c.-5A>C	OTC	Single nucleotide variant (5 prime UTR variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 203868	NM_000531.6(OTC):c.-4G>A	OTC	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 97131	NM_000531.6(OTC):c.1A>T (p.Met1Leu)	OTC (M1L)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 97130	NM_000531.6(OTC):c.1A>G (p.Met1Val)	OTC (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 97164	NM_000531.6(OTC):c.2T>C (p.Met1Thr)	OTC (M1T)	Single nucleotide variant (missense variant +1 more)	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 97189	NM_000531.6(OTC):c.3G>A (p.Met1Ile)	OTC (M1I)	Single nucleotide variant (missense variant +1 more)	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 2134006	NM_000531.6(OTC):c.4C>T (p.Leu2=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2727469	NM_000531.6(OTC):c.6G>A (p.Leu2=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 751962	NM_000531.6(OTC):c.6G>C (p.Leu2=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2092888	NM_000531.6(OTC):c.10A>G (p.Asn4Asp)	OTC (N4D)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 1099845	NM_000531.6(OTC):c.25T>C (p.Leu9=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 97157	NM_000531.6(OTC):c.29_32del (p.Asn10fs)	OTC (N10fs)	Deletion (frameshift variant)	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 2756484	NM_000531.6(OTC):c.30C>T (p.Asn10=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign

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