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

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59728	GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3	ABRAXAS2, ACADSB +514 more	Copy number gain	See cases	GPathogenic
Select item 58821	GRCh38/hg38 10q26.13-26.2(chr10:122973296-128210291)x1	ABRAXAS2, ACADSB +182 more	Copy number loss	See cases	GPathogenic
Select item 299166	NM_000274.4(OAT):c.*185C>T	OAT	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 149	NM_000274.4(OAT):c.1186C>T (p.Arg396Ter)	OAT (R396* +3 more)	Single nucleotide variant (nonsense)	Ornithine aminotransferase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 683257	NM_000274.4(OAT):c.1160-59C>T	OAT	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1278539	NM_000274.4(OAT):c.1160-108G>A	OAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275165	NM_000274.4(OAT):c.1159+258T>C	OAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236578	NM_000274.4(OAT):c.1159+215G>A	OAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261209	NM_000274.4(OAT):c.1159+134G>A	OAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279117	NM_000274.4(OAT):c.1159+115T>C	OAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 161	NM_000274.4(OAT):c.1134C>T (p.Asn378=)	OAT	Single nucleotide variant (synonymous variant)	Ornithine aminotransferase deficiency +1 more	GBenign
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 683256	NM_000274.4(OAT):c.1015-103A>C	OAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683255	NM_000274.4(OAT):c.1015-150C>T	OAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 56141	NM_000274.4(OAT):c.991C>T (p.Arg331Ter)	OAT (R193* +3 more)	Single nucleotide variant (nonsense)	Ornithine aminotransferase deficiency +1 more	GPathogenic
Select item 198705	NM_000274.4(OAT):c.969C>T (p.Tyr323=)	OAT	Single nucleotide variant (synonymous variant)	Ornithine aminotransferase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 672118	NM_000274.4(OAT):c.901-22T>C	OAT	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 672117	NM_000274.4(OAT):c.901-57A>T	OAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672113	NM_000274.4(OAT):c.901-154A>G	OAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283991	NM_000274.4(OAT):c.901-229ATAA[10]	OAT	Microsatellite (intron variant)	not provided	GBenign
Select item 1263257	NM_000274.4(OAT):c.772-141C>T	OAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288196	NM_000274.4(OAT):c.772-178C>G	OAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277541	NM_000274.4(OAT):c.772-190T>G	OAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 684343	NM_000274.4(OAT):c.772-314G>C	OAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268144	NM_000274.4(OAT):c.771+288C>T	LOC121815974, OAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285775	NM_000274.4(OAT):c.771+227G>A	LOC121815974, OAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1707191	NM_000274.4(OAT):c.649-240T>C	OAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1248300	NM_000274.4(OAT):c.648+193C>G	OAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271486	NM_000274.4(OAT):c.648+146G>A	OAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207383	NM_000274.4(OAT):c.648+66A>G	OAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196910	NM_000274.4(OAT):c.648+44A>G	OAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 167396	NM_000274.4(OAT):c.648+14A>G	OAT	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1202852	NM_000274.4(OAT):c.521-196T>G	OAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1241148	NM_000274.4(OAT):c.520+231C>T	OAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247841	NM_000274.4(OAT):c.520+229C>T	OAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264069	NM_000274.4(OAT):c.520+227C>T	OAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271901	NM_000274.4(OAT):c.520+223T>C	OAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226525	NM_000274.4(OAT):c.520+221T>C	OAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177714	NM_000274.4(OAT):c.520+219T>C	OAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250391	NM_000274.4(OAT):c.520+217T>C	OAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270823	NM_000274.4(OAT):c.520+215T>C	OAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232996	NM_000274.4(OAT):c.520+195_520+206del	OAT	Deletion (intron variant)	not provided	GBenign
Select item 1210827	NM_000274.4(OAT):c.520+195_520+202del	OAT	Deletion (intron variant)	not provided	GLikely benign
Select item 1265359	NM_000274.4(OAT):c.520+199T>A	OAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279098	NM_000274.4(OAT):c.520+195_520+198del	OAT	Deletion (intron variant)	not provided	GBenign
Select item 1195430	NM_000274.4(OAT):c.520+198del	OAT	Deletion (intron variant)	not provided	GLikely benign
Select item 1263429	NM_000274.4(OAT):c.520+197A>T	OAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219725	NM_000274.4(OAT):c.520+195A>T	OAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1244395	NM_000274.4(OAT):c.520+142C>A	OAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282781	NM_000274.4(OAT):c.520+27A>G	OAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1027070	NM_000274.4(OAT):c.416T>G (p.Met139Arg)	OAT (M139R +1 more)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1277944	NM_000274.4(OAT):c.200-52_200-51insA	OAT	Insertion (intron variant)	not provided	GBenign
Select item 1264570	NM_000274.4(OAT):c.200-182C>T	OAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277551	NM_000274.4(OAT):c.199+155_199+157del	OAT	Deletion (intron variant)	not provided	GBenign
Select item 1264083	NM_000274.4(OAT):c.199+157del	OAT	Deletion (intron variant)	not provided	GBenign
Select item 1253777	NM_000274.4(OAT):c.199+156_199+157del	OAT	Deletion (intron variant)	not provided	GBenign
Select item 1169204	NM_000274.4(OAT):c.199+19C>T	OAT	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 556600	NM_000274.4(OAT):c.199+11_199+16dup	OAT	Duplication (intron variant)	Ornithine aminotransferase deficiency +1 more	GBenign/Likely benign
Select item 703521	NM_000274.4(OAT):c.107G>C (p.Gly36Ala)	OAT (G36A)	Single nucleotide variant (missense variant +1 more)	Ornithine aminotransferase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 683242	NM_000274.4(OAT):c.-29-81A>G	OAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 more	Copy number gain	See cases	GPathogenic
Select item 253439	GRCh37/hg19 10q26.12-26.2(chr10:122239239-128203032)x1	C10orf90, CHST15 +40 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 62