"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "COX15"[gen - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 878593	NM_020354.5(ENTPD7):c.*4789T>C	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome +1 more	GConflicting classifications of pathogenicity
Select item 298386	NM_020354.5(ENTPD7):c.6425_6426dup	COX15, ENTPD7	Duplication (3 prime UTR variant +2 more)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 214251	NM_078470.6(COX15):c.1000G>T (p.Val334Phe)	COX15 (V334F +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 546652	NM_078470.6(COX15):c.821C>T (p.Thr274Met)	COX15 (T274M +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2640749	NM_078470.6(COX15):c.366A>G (p.Gln122=)	COX15	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 916222	NM_078470.6(COX15):c.362T>C (p.Phe121Ser)	COX15 (F121S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 632778	NM_078470.6(COX15):c.135C>T (p.Thr45=)	COX15	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GLikely benign
Select item 214253	NM_078470.6(COX15):c.106C>T (p.Arg36Cys)	COX15 (R36C)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GConflicting classifications of pathogenicity