"GeneDx"[submitter] AND "OXCT1"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58092	GRCh38/hg38 5p13.2-12(chr5:35700480-45260029)x3	LOC126807367, LOC126807368 +254 more	Copy number gain	See cases	GPathogenic
Select item 58093	GRCh38/hg38 5p13.2-q11.1(chr5:36374107-51103841)x3	ANXA2R, ANXA2R-AS1 +245 more	Copy number gain	See cases	GPathogenic
Select item 1244816	NM_000436.4(OXCT1):c.1521+263G>C	OXCT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224157	NM_000436.4(OXCT1):c.1420-33T>C	OXCT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277182	NM_000436.4(OXCT1):c.1420-91C>T	OXCT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275040	NM_000436.4(OXCT1):c.1420-230dup	OXCT1	Duplication (intron variant)	not provided	GBenign
Select item 1404673	NM_000436.4(OXCT1):c.1370C>G (p.Thr457Arg)	OXCT1 (T455R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1282554	NM_000436.4(OXCT1):c.1338+211A>T	OXCT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260405	NM_000436.4(OXCT1):c.1248+273G>A	OXCT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254979	NM_000436.4(OXCT1):c.1050+212G>C	OXCT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237110	NM_000436.4(OXCT1):c.956-150G>A	OXCT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266781	NM_000436.4(OXCT1):c.955+128dup	OXCT1	Duplication (intron variant)	not provided	GBenign
Select item 1275315	NM_000436.4(OXCT1):c.955+143del	OXCT1	Deletion (intron variant)	not provided	GBenign
Select item 1251217	NM_000436.4(OXCT1):c.955+94C>G	OXCT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273230	NM_000436.4(OXCT1):c.841-278G>T	OXCT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252799	NM_000436.4(OXCT1):c.733-330A>G	OXCT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254335	NM_000436.4(OXCT1):c.732+135del	OXCT1	Deletion (intron variant)	not provided	GBenign
Select item 1247311	NM_000436.4(OXCT1):c.671+31A>G	OXCT1	Single nucleotide variant (intron variant)	Succinyl-CoA acetoacetate transferase deficiency +1 more	GBenign
Select item 1281122	NM_000436.4(OXCT1):c.414+192A>G	OXCT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 93004	NM_000436.4(OXCT1):c.414+7A>C	OXCT1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1304662	NM_000436.4(OXCT1):c.199T>C (p.Cys67Arg)	OXCT1 (C67R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 167412	NM_000436.4(OXCT1):c.112C>T (p.Arg38Cys)	OXCT1 (R38C +1 more)	Single nucleotide variant (missense variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency +2 more	GBenign/Likely benign
Select item 93008	NM_000436.4(OXCT1):c.78+10dup	OXCT1, OXCT1-AS1	Duplication (5 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 353673	NM_000436.3(OXCT1):c.-192G>A	OXCT1, OXCT1-AS1	Single nucleotide variant	not provided +1 more	GBenign
Select item 353674	NM_000436.3(OXCT1):c.-215A>G	OXCT1, OXCT1-AS1	Single nucleotide variant	not provided +1 more	GBenign
Select item 253597	GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3	RXFP3, GDNF +89 more	Copy number gain	See cases	GPathogenic

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Items: 26