"GeneDx"[submitter] AND "COX6A1"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	AACS, ABCB9 +892 more	Copy number gain	See cases	GPathogenic
Select item 676664	NM_004373.3(COX6A1):c.-155T>C	COX6A1	Single nucleotide variant	not provided	GLikely benign
Select item 1226083	NC_000012.12:g.120437987C>T	COX6A1	Single nucleotide variant	not provided	GBenign
Select item 676665	NM_004373.3(COX6A1):c.-48G>A	COX6A1	Single nucleotide variant	not provided	GLikely benign
Select item 382038	NM_004373.3(COX6A1):c.-45A>G	COX6A1	Single nucleotide variant	not specified	GLikely benign
Select item 386514	NM_004373.4(COX6A1):c.36G>C (p.Leu12=)	COX6A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 682112	NM_004373.4(COX6A1):c.103+12G>A	COX6A1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1318114	NM_004373.4(COX6A1):c.103+22G>A	COX6A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676114	NM_004373.4(COX6A1):c.103+33A>C	COX6A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669703	NM_004373.4(COX6A1):c.246+152T>A	COX6A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1320570	NM_004373.4(COX6A1):c.246+245C>A	COX6A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181152	NM_004373.4(COX6A1):c.247-25T>C	COX6A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 385439	NM_004373.4(COX6A1):c.249G>A (p.Pro83=)	COX6A1	Single nucleotide variant (synonymous variant)	COX6A1-related condition +1 more	GBenign/Likely benign
Select item 1235763	NM_004373.4(COX6A1):c.*190T>C	COX6A1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign