ClinVar for Gene (Select 4942) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3075894	NM_000274.4(OAT):c.742G>T (p.Gly248Ter)	LOC121815974, OAT (G110* +3 more)	Single nucleotide variant (nonsense)	Ornithine aminotransferase deficiency	GLikely pathogenic
Select item 3064096	NM_000274.4(OAT):c.889G>T (p.Gly297Cys)	OAT (G159C +3 more)	Single nucleotide variant (missense variant)	Ornithine aminotransferase deficiency	GLikely pathogenic
Select item 3063175	GRCh37/hg19 10q26.13-26.3(chr10:125987494-135427143)x1	ABRAXAS2, ADAM12 +55 more	Copy number loss	not specified	GPathogenic
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3022637	NM_000274.4(OAT):c.520+17A>G	OAT	Single nucleotide variant (intron variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 3014822	NM_000274.4(OAT):c.772-20G>A	OAT	Single nucleotide variant (intron variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 3000514	NM_000274.4(OAT):c.897C>T (p.Tyr299=)	OAT	Single nucleotide variant (synonymous variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2999999	NM_000274.4(OAT):c.648+13C>T	OAT	Single nucleotide variant (intron variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2999431	NM_000274.4(OAT):c.1014+14C>G	OAT	Single nucleotide variant (intron variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2996283	NM_000274.4(OAT):c.199+20del	OAT	Deletion (intron variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2994581	NM_000274.4(OAT):c.1160-15A>G	OAT	Single nucleotide variant (intron variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2963002	NM_000274.4(OAT):c.33T>C (p.Phe11=)	OAT	Single nucleotide variant (synonymous variant +1 more)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2962508	NM_000274.4(OAT):c.1015-6del	OAT	Deletion (intron variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2956909	NM_000274.4(OAT):c.901-15T>C	OAT	Single nucleotide variant (intron variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2919998	NM_000274.4(OAT):c.1160-13T>C	OAT	Single nucleotide variant (intron variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2918236	NM_000274.4(OAT):c.649-13G>A	LOC121815974, OAT	Single nucleotide variant (intron variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2914896	NM_000274.4(OAT):c.717T>C (p.Val239=)	LOC121815974, OAT	Single nucleotide variant (synonymous variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2907109	NM_000274.4(OAT):c.360T>C (p.Leu120=)	OAT	Single nucleotide variant (synonymous variant +2 more)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2906452	NM_000274.4(OAT):c.649-14T>C	LOC121815974, OAT	Single nucleotide variant (intron variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2897836	NM_000274.4(OAT):c.1230C>T (p.Asp410=)	OAT	Single nucleotide variant (synonymous variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2897633	NM_000274.4(OAT):c.200-6T>C	OAT	Single nucleotide variant (intron variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2893004	NM_000274.4(OAT):c.771+8_771+10dup	LOC121815974, OAT	Duplication (intron variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2888546	NM_000274.4(OAT):c.425-11T>C	OAT	Single nucleotide variant (intron variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2888542	NM_000274.4(OAT):c.771+13G>A	LOC121815974, OAT	Single nucleotide variant (intron variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2877711	NM_000274.4(OAT):c.834T>C (p.Val278=)	OAT	Single nucleotide variant (synonymous variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2875049	NM_000274.4(OAT):c.425-4A>G	OAT	Single nucleotide variant (intron variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2870513	NM_000274.4(OAT):c.1285A>G (p.Ile429Val)	OAT (I291V +3 more)	Single nucleotide variant (missense variant)	Ornithine aminotransferase deficiency	GUncertain significance
Select item 2869421	NM_000274.4(OAT):c.258T>C (p.Ser86=)	OAT	Single nucleotide variant (synonymous variant +2 more)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2866899	NM_000274.4(OAT):c.864C>T (p.Val288=)	OAT	Single nucleotide variant (synonymous variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2865828	NM_000274.4(OAT):c.276T>C (p.His92=)	OAT	Single nucleotide variant (synonymous variant +2 more)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2860769	NM_000274.4(OAT):c.141A>G (p.Glu47=)	OAT	Single nucleotide variant (synonymous variant +1 more)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2860262	NM_000274.4(OAT):c.267C>T (p.Asn89=)	OAT	Single nucleotide variant (synonymous variant +2 more)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2858509	NM_000274.4(OAT):c.1del (p.Met1fs)	OAT (M1fs)	Deletion (frameshift variant +2 more)	Ornithine aminotransferase deficiency	GPathogenic
Select item 2858302	NM_000274.4(OAT):c.414T>C (p.Pro138=)	OAT	Single nucleotide variant (synonymous variant +2 more)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2856174	NM_000274.4(OAT):c.1014+19A>G	OAT	Single nucleotide variant (intron variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2849927	NM_000274.4(OAT):c.591dup (p.Gly198fs)	OAT (G198fs +2 more)	Duplication (frameshift variant +1 more)	Ornithine aminotransferase deficiency	GPathogenic
Select item 2849904	NM_000274.4(OAT):c.661_701del (p.Gln220_Asp221insTer)	LOC121815974, OAT	Deletion (nonsense)	Ornithine aminotransferase deficiency	GPathogenic
Select item 2849678	NM_000274.4(OAT):c.525del (p.Asn176fs)	OAT (N176fs +2 more)	Deletion (frameshift variant +1 more)	Ornithine aminotransferase deficiency	GPathogenic
Select item 2843028	NM_000274.4(OAT):c.424+1G>A	OAT	Single nucleotide variant (splice donor variant +1 more)	Ornithine aminotransferase deficiency	GLikely pathogenic
Select item 2841503	NM_000274.4(OAT):c.771+14C>G	LOC121815974, OAT	Single nucleotide variant (intron variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2835382	NM_000274.4(OAT):c.648+19A>C	OAT	Single nucleotide variant (intron variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2835203	NM_000274.4(OAT):c.901-20G>A	OAT	Single nucleotide variant (intron variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2834158	NM_000274.4(OAT):c.648+20G>A	OAT	Single nucleotide variant (intron variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2833524	NM_000274.4(OAT):c.219A>C (p.Val73=)	OAT	Single nucleotide variant (synonymous variant +2 more)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2830945	NM_000274.4(OAT):c.714T>A (p.Val238=)	LOC121815974, OAT	Single nucleotide variant (synonymous variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2830797	NM_000274.4(OAT):c.633T>C (p.Asp211=)	OAT	Single nucleotide variant (synonymous variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2829037	NM_000274.4(OAT):c.483G>A (p.Lys161=)	OAT	Single nucleotide variant (synonymous variant +2 more)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2828823	NM_000274.4(OAT):c.1155C>T (p.Thr385=)	OAT	Single nucleotide variant (synonymous variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2823506	NM_000274.4(OAT):c.1159+16A>C	OAT	Single nucleotide variant (intron variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2821621	NM_000274.4(OAT):c.425-20A>G	OAT	Single nucleotide variant (intron variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2816706	NM_000274.4(OAT):c.900+15C>A	OAT	Single nucleotide variant (intron variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2815404	NM_000274.4(OAT):c.843A>G (p.Glu281=)	OAT	Single nucleotide variant (synonymous variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2815175	NM_000274.4(OAT):c.1227C>A (p.Gly409=)	OAT	Single nucleotide variant (synonymous variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2810016	NM_000274.4(OAT):c.1015-4G>T	OAT	Single nucleotide variant (intron variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2803830	NM_000274.4(OAT):c.772-5A>G	OAT	Single nucleotide variant (intron variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2800361	NM_000274.4(OAT):c.649-5T>C	LOC121815974, OAT	Single nucleotide variant (intron variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2789519	NM_000274.4(OAT):c.1160-43_1160-15del	OAT	Deletion (intron variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2785477	NM_000274.4(OAT):c.771+2T>C	LOC121815974, OAT	Single nucleotide variant (splice donor variant)	Ornithine aminotransferase deficiency	GLikely pathogenic
Select item 2766962	NM_000274.4(OAT):c.1221C>G (p.Thr407=)	OAT	Single nucleotide variant (synonymous variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2766784	NM_000274.4(OAT):c.162C>T (p.Asn54=)	OAT	Single nucleotide variant (synonymous variant +1 more)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2763215	NM_000274.4(OAT):c.772-20del	OAT	Deletion (intron variant)	Ornithine aminotransferase deficiency	GBenign
Select item 2759069	NM_000274.4(OAT):c.1008C>T (p.Ala336=)	OAT	Single nucleotide variant (synonymous variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2758467	NM_000274.4(OAT):c.1015-9dup	OAT	Duplication (intron variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2756888	NM_000274.4(OAT):c.1015-18A>C	OAT	Single nucleotide variant (intron variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2755978	NM_000274.4(OAT):c.199+9C>A	OAT	Single nucleotide variant (intron variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2748632	NM_000274.4(OAT):c.199+8T>A	OAT	Single nucleotide variant (intron variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2735567	NM_000274.4(OAT):c.900+12G>C	OAT	Single nucleotide variant (intron variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2734794	NM_000274.4(OAT):c.648+20G>T	OAT	Single nucleotide variant (intron variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2731276	NM_000274.4(OAT):c.1284C>G (p.Ser428=)	OAT	Single nucleotide variant (synonymous variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2729257	NM_000274.4(OAT):c.777C>T (p.Leu259=)	OAT	Single nucleotide variant (synonymous variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2728577	NM_000274.4(OAT):c.1227C>G (p.Gly409=)	OAT	Single nucleotide variant (synonymous variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2716189	NM_000274.4(OAT):c.988_991dup (p.Arg331fs)	OAT (R131fs +3 more)	Duplication (frameshift variant)	Ornithine aminotransferase deficiency	GPathogenic
Select item 2710971	NM_000274.4(OAT):c.114A>G (p.Pro38=)	OAT	Single nucleotide variant (synonymous variant +1 more)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2709937	NM_000274.4(OAT):c.1215G>A (p.Lys405=)	OAT	Single nucleotide variant (synonymous variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2706304	NM_000274.4(OAT):c.1140del (p.Ile380fs)	OAT (I242fs +3 more)	Deletion (frameshift variant)	Ornithine aminotransferase deficiency	GPathogenic
Select item 2695807	NM_000274.4(OAT):c.1309T>C (p.Leu437=)	OAT	Single nucleotide variant (synonymous variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 2684621	GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3	ABLIM1, ABRAXAS2 +117 more	Copy number gain	not provided	GPathogenic
Select item 2677395	NM_000274.4(OAT):c.49G>T (p.Gly17Ter)	OAT (G17*)	Single nucleotide variant (nonsense +1 more)	Ornithine aminotransferase deficiency	GLikely pathogenic
Select item 2677394	NM_000274.4(OAT):c.582C>G (p.Tyr194Ter)	OAT (Y194* +2 more)	Single nucleotide variant (nonsense +1 more)	Ornithine aminotransferase deficiency	GLikely pathogenic
Select item 2677393	NM_000274.4(OAT):c.581dup (p.Tyr194Ter)	OAT (Y194* +2 more)	Duplication (nonsense +1 more)	Ornithine aminotransferase deficiency	GLikely pathogenic
Select item 2677392	NM_000274.4(OAT):c.899del (p.Pro300fs)	OAT (P100fs +3 more)	Deletion (frameshift variant)	Ornithine aminotransferase deficiency	GLikely pathogenic
Select item 2677391	NM_000274.4(OAT):c.969C>G (p.Tyr323Ter)	OAT (Y123* +3 more)	Single nucleotide variant (nonsense)	Ornithine aminotransferase deficiency	GLikely pathogenic
Select item 2677390	NM_000274.4(OAT):c.630_631insA (p.Asp211fs)	OAT (D104fs +3 more)	Insertion (frameshift variant)	Ornithine aminotransferase deficiency	GLikely pathogenic
Select item 2677389	NM_000274.4(OAT):c.592_601del (p.Gly198fs)	OAT (G198fs +3 more)	Deletion (frameshift variant +1 more)	Ornithine aminotransferase deficiency	GLikely pathogenic
Select item 2677388	NM_000274.4(OAT):c.900+1G>C	OAT	Single nucleotide variant (splice donor variant)	Ornithine aminotransferase deficiency	GLikely pathogenic
Select item 2677387	NM_000274.4(OAT):c.1160-1G>C	OAT	Single nucleotide variant (splice acceptor variant)	Ornithine aminotransferase deficiency	GLikely pathogenic
Select item 2677386	NM_000274.4(OAT):c.759C>A (p.Cys253Ter)	LOC121815974, OAT (C115* +3 more)	Single nucleotide variant (nonsense)	Ornithine aminotransferase deficiency	GLikely pathogenic
Select item 2671974	GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3	ABLIM1, ABRAXAS2 +145 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2580338	GRCh37/hg19 10q26.13-26.3(chr10:124895517-135440296)x1	ABRAXAS2, ADAM12 +62 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574693	GRCh37/hg19 10q26.13-26.3(chr10:123477898-135427143)	ABRAXAS2, ACADSB +77 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2498475	GRCh37/hg19 10q26.12-26.3(chr10:122610933-135439810)x1	HMX3, LHPP +80 more	Copy number loss	not provided	GPathogenic
Select item 2430383	NM_000274.4(OAT):c.1112dup (p.Arg372fs)	OAT (R172fs +3 more)	Duplication (frameshift variant)	Ornithine aminotransferase deficiency +1 more	GLikely pathogenic
Select item 2422770	NC_000010.10:g.(?_126089389)_(126090428_?)dup	OAT	Duplication	Ornithine aminotransferase deficiency	GLikely pathogenic
Select item 2422769	NC_000010.10:g.(?_126097101)_(126097544_?)del	OAT	Deletion	Ornithine aminotransferase deficiency	GPathogenic
Select item 2422768	NC_000010.10:g.(?_126089399)_(126089563_?)del	OAT	Deletion	Ornithine aminotransferase deficiency	GPathogenic
Select item 2417585	NM_000274.4(OAT):c.1076A>G (p.Glu359Gly)	OAT (E159G +3 more)	Single nucleotide variant (missense variant)	Ornithine aminotransferase deficiency	GUncertain significance
Select item 2417462	NM_000274.4(OAT):c.500A>C (p.Lys167Thr)	OAT (K167T +1 more)	Single nucleotide variant (missense variant +2 more)	Ornithine aminotransferase deficiency	GUncertain significance
Select item 2415461	NM_000274.4(OAT):c.915G>A (p.Leu305=)	OAT	Single nucleotide variant (synonymous variant)	Ornithine aminotransferase deficiency	GLikely benign

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