"Illumina Laboratory Services, Illumina"[submitter] AND "COX15"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 298362	NM_020354.5(ENTPD7):c.*4258A>G	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GLikely benign
Select item 298363	NM_020354.5(ENTPD7):c.*4290C>G	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GUncertain significance
Select item 298364	NM_020354.5(ENTPD7):c.*4292C>T	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 298365	NM_020354.5(ENTPD7):c.*4296T>C	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GUncertain significance
Select item 298366	NM_020354.5(ENTPD7):c.*4339C>T	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GUncertain significance
Select item 298367	NM_020354.5(ENTPD7):c.*4513G>A	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GLikely benign
Select item 878591	NM_020354.5(ENTPD7):c.*4519C>T	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GUncertain significance
Select item 878592	NM_020354.5(ENTPD7):c.*4550G>T	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GUncertain significance
Select item 298368	NM_020354.5(ENTPD7):c.*4579G>A	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GUncertain significance
Select item 298369	NM_020354.5(ENTPD7):c.*4621A>C	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GUncertain significance
Select item 878593	NM_020354.5(ENTPD7):c.*4789T>C	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 298370	NM_020354.5(ENTPD7):c.*4914T>C	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GUncertain significance
Select item 879190	NM_020354.5(ENTPD7):c.*4931G>T	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GUncertain significance
Select item 298371	NM_020354.5(ENTPD7):c.*4976C>T	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GUncertain significance
Select item 298372	NM_020354.5(ENTPD7):c.*5002G>C	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GUncertain significance
Select item 298373	NM_020354.5(ENTPD7):c.*5070A>G	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GLikely benign
Select item 879191	NM_020354.5(ENTPD7):c.*5079T>C	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GUncertain significance
Select item 298374	NM_020354.5(ENTPD7):c.*5084T>A	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 879192	NM_020354.5(ENTPD7):c.*5113T>C	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GUncertain significance
Select item 298375	NM_020354.5(ENTPD7):c.*5165G>A	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GBenign
Select item 880391	NM_020354.5(ENTPD7):c.*5167G>A	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GUncertain significance
Select item 880392	NM_020354.5(ENTPD7):c.*5261C>G	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GUncertain significance
Select item 880393	NM_020354.5(ENTPD7):c.*5320C>G	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GUncertain significance
Select item 298376	NM_020354.5(ENTPD7):c.*5401T>C	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GUncertain significance
Select item 298377	NM_020354.5(ENTPD7):c.*5463T>G	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GBenign
Select item 880394	NM_020354.5(ENTPD7):c.*5520C>T	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GUncertain significance
Select item 298378	NM_020354.5(ENTPD7):c.*5521G>A	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GUncertain significance
Select item 298379	NM_020354.5(ENTPD7):c.*5645C>A	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GUncertain significance
Select item 298380	NM_020354.5(ENTPD7):c.*5889A>G	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GUncertain significance
Select item 298381	NM_020354.5(ENTPD7):c.*5890C>T	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GUncertain significance
Select item 298382	NM_020354.5(ENTPD7):c.*5989T>C	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GUncertain significance
Select item 877633	NM_020354.5(ENTPD7):c.*6030G>A	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GUncertain significance
Select item 298383	NM_020354.5(ENTPD7):c.*6091A>C	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GLikely benign
Select item 298384	NM_078470.6(COX15):c.*3670G>A	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +2 more)	Leigh syndrome	GUncertain significance
Select item 877634	NM_078470.6(COX15):c.*3638C>T	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +2 more)	Leigh syndrome	GUncertain significance
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 298385	NM_078470.6(COX15):c.*3485dup	COX15, ENTPD7	Duplication (3 prime UTR variant +2 more)	Mitochondrial complex IV deficiency, nuclear type 1	GBenign
Select item 298387	NM_078470.6(COX15):c.*3417T>C	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +2 more)	Leigh syndrome	GBenign
Select item 878643	NM_078470.6(COX15):c.*3362T>C	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +2 more)	Leigh syndrome	GUncertain significance
Select item 298388	NM_078470.6(COX15):c.*3247T>C	COX15	Single nucleotide variant (3 prime UTR variant +2 more)	Leigh syndrome	GUncertain significance
Select item 878644	NM_078470.6(COX15):c.*2959G>C	COX15	Single nucleotide variant (3 prime UTR variant +2 more)	Leigh syndrome	GUncertain significance
Select item 298389	NM_078470.6(COX15):c.*2898A>G	COX15	Single nucleotide variant (3 prime UTR variant +2 more)	Leigh syndrome	GUncertain significance
Select item 298390	NM_078470.6(COX15):c.*2857A>G	COX15	Single nucleotide variant (3 prime UTR variant +2 more)	Leigh syndrome	GUncertain significance
Select item 878645	NM_078470.6(COX15):c.*2850A>G	COX15	Single nucleotide variant (3 prime UTR variant +2 more)	Leigh syndrome	GUncertain significance
Select item 878646	NM_078470.6(COX15):c.*2839G>T	COX15	Single nucleotide variant (3 prime UTR variant +2 more)	Leigh syndrome	GUncertain significance
Select item 298391	NM_078470.6(COX15):c.*2755del	COX15	Deletion (3 prime UTR variant +2 more)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 879242	NM_078470.6(COX15):c.*2745T>G	COX15	Single nucleotide variant (3 prime UTR variant +2 more)	Leigh syndrome	GUncertain significance
Select item 298392	NM_078470.6(COX15):c.*2701A>G	COX15	Single nucleotide variant (3 prime UTR variant +2 more)	Leigh syndrome	GUncertain significance
Select item 298393	NM_078470.6(COX15):c.*2668C>G	COX15	Single nucleotide variant (3 prime UTR variant +2 more)	Leigh syndrome	GUncertain significance
Select item 298394	NM_078470.6(COX15):c.*2649G>A	COX15	Single nucleotide variant (3 prime UTR variant +2 more)	Leigh syndrome	GBenign
Select item 879243	NM_078470.6(COX15):c.*2620C>T	COX15	Single nucleotide variant (3 prime UTR variant +2 more)	Leigh syndrome	GUncertain significance
Select item 879244	NM_078470.6(COX15):c.*2595C>T	COX15	Single nucleotide variant (3 prime UTR variant +2 more)	Leigh syndrome	GUncertain significance
Select item 879245	NM_078470.6(COX15):c.*2594T>G	COX15	Single nucleotide variant (3 prime UTR variant +2 more)	Leigh syndrome	GUncertain significance
Select item 298395	NM_078470.6(COX15):c.*2490T>C	COX15	Single nucleotide variant (3 prime UTR variant +2 more)	Leigh syndrome	GUncertain significance
Select item 298396	NM_078470.6(COX15):c.*2459G>T	COX15	Single nucleotide variant (3 prime UTR variant +2 more)	Leigh syndrome	GUncertain significance
Select item 880431	NM_078470.6(COX15):c.*2301G>A	COX15	Single nucleotide variant (3 prime UTR variant +2 more)	Leigh syndrome	GUncertain significance
Select item 880430	NM_078470.6(COX15):c.*2301G>C	COX15	Single nucleotide variant (3 prime UTR variant +2 more)	Leigh syndrome	GUncertain significance
Select item 298397	NM_078470.6(COX15):c.*2282G>A	COX15	Single nucleotide variant (3 prime UTR variant +2 more)	Leigh syndrome	GUncertain significance
Select item 298398	NM_078470.6(COX15):c.*2193A>T	COX15	Single nucleotide variant (3 prime UTR variant +2 more)	Leigh syndrome	GUncertain significance
Select item 880432	NM_078470.6(COX15):c.*2167A>G	COX15	Single nucleotide variant (3 prime UTR variant +2 more)	Leigh syndrome	GUncertain significance
Select item 298399	NM_078470.6(COX15):c.*2060C>T	COX15	Single nucleotide variant (3 prime UTR variant +2 more)	Leigh syndrome	GUncertain significance
Select item 880433	NM_078470.6(COX15):c.*1957A>C	COX15	Single nucleotide variant (3 prime UTR variant +2 more)	Leigh syndrome	GUncertain significance
Select item 877675	NM_078470.6(COX15):c.*1876A>G	COX15	Single nucleotide variant (3 prime UTR variant +2 more)	Leigh syndrome	GLikely benign
Select item 298400	NM_078470.6(COX15):c.*1851G>T	COX15	Single nucleotide variant (3 prime UTR variant +2 more)	Leigh syndrome	GUncertain significance
Select item 298401	NM_078470.6(COX15):c.*1850G>T	COX15	Single nucleotide variant (3 prime UTR variant +2 more)	Leigh syndrome	GUncertain significance
Select item 298402	NM_078470.6(COX15):c.*1793G>A	COX15	Single nucleotide variant (3 prime UTR variant +2 more)	Leigh syndrome	GUncertain significance
Select item 298403	NM_078470.6(COX15):c.*1776T>A	COX15	Single nucleotide variant (3 prime UTR variant +2 more)	Leigh syndrome	GUncertain significance
Select item 298404	NM_078470.6(COX15):c.*1716G>A	COX15	Single nucleotide variant (3 prime UTR variant +2 more)	Leigh syndrome	GUncertain significance
Select item 298405	NM_078470.6(COX15):c.*1693G>A	COX15	Single nucleotide variant (3 prime UTR variant +2 more)	Leigh syndrome	GLikely benign
Select item 298406	NM_078470.6(COX15):c.*1594C>G	COX15	Single nucleotide variant (3 prime UTR variant +2 more)	Leigh syndrome	GUncertain significance
Select item 878693	NM_078470.6(COX15):c.*1591C>T	COX15	Single nucleotide variant (3 prime UTR variant +2 more)	Leigh syndrome	GUncertain significance
Select item 878694	NM_078470.6(COX15):c.*1590A>C	COX15	Single nucleotide variant (3 prime UTR variant +2 more)	Leigh syndrome	GUncertain significance
Select item 298407	NM_078470.6(COX15):c.*1474C>T	COX15	Single nucleotide variant (3 prime UTR variant +2 more)	Leigh syndrome	GUncertain significance
Select item 298408	NM_078470.6(COX15):c.1429_1430del	COX15	Deletion (3 prime UTR variant +2 more)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 878695	NM_078470.6(COX15):c.*1362G>A	COX15	Single nucleotide variant (3 prime UTR variant +2 more)	Leigh syndrome	GUncertain significance
Select item 298409	NM_078470.6(COX15):c.*1361C>T	COX15	Single nucleotide variant (3 prime UTR variant +2 more)	Leigh syndrome	GUncertain significance
Select item 878696	NM_078470.6(COX15):c.*1349A>C	COX15	Single nucleotide variant (3 prime UTR variant +2 more)	Leigh syndrome	GUncertain significance
Select item 298410	NM_078470.6(COX15):c.*1309T>C	COX15	Single nucleotide variant (3 prime UTR variant +2 more)	Leigh syndrome	GUncertain significance
Select item 878697	NM_078470.6(COX15):c.*1242A>G	COX15	Single nucleotide variant (3 prime UTR variant +2 more)	Leigh syndrome	GUncertain significance
Select item 298411	NM_078470.6(COX15):c.*1197T>C	COX15	Single nucleotide variant (3 prime UTR variant +2 more)	Leigh syndrome +1 more	GLikely benign
Select item 128836	NM_078470.6(COX15):c.*1126T>C	COX15 (F374L)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified +2 more	GBenign
Select item 298412	NM_078470.6(COX15):c.*1122C>G	COX15 (F372L)	Single nucleotide variant (3 prime UTR variant +3 more)	Leigh syndrome +1 more	GUncertain significance
Select item 298413	NM_078470.6(COX15):c.1029C>A (p.Leu343=)	COX15 (L292I)	Single nucleotide variant (synonymous variant +2 more)	Leigh syndrome +1 more	GConflicting classifications of pathogenicity
Select item 298414	NM_078470.6(COX15):c.988-3C>T	COX15 (Q335*)	Single nucleotide variant (nonsense +1 more)	Leigh syndrome	GUncertain significance
Select item 137013	NM_078470.6(COX15):c.988-8C>A	COX15 (S333Y)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 214263	NM_078470.6(COX15):c.929C>G (p.Pro310Arg)	COX15 (P310R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 880476	NM_078470.6(COX15):c.841G>A (p.Val281Met)	COX15 (V272M +2 more)	Single nucleotide variant (missense variant +1 more)	Leigh syndrome	GUncertain significance
Select item 880477	NM_078470.6(COX15):c.832+9C>T	COX15	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 631620	NM_078470.6(COX15):c.784C>T (p.Arg262Ter)	COX15 (R262* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 298415	NM_078470.6(COX15):c.717G>T (p.Trp239Cys)	COX15 (W239C +1 more)	Single nucleotide variant (missense variant +1 more)	Leigh syndrome	GUncertain significance
Select item 880478	NM_078470.6(COX15):c.665G>A (p.Arg222His)	COX15 (R222H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 724901	NM_078470.6(COX15):c.664C>T (p.Arg222Cys)	COX15 (R43C +1 more)	Single nucleotide variant (missense variant +1 more)	Leigh syndrome +2 more	GConflicting classifications of pathogenicity
Select item 298416	NM_078470.6(COX15):c.582+14A>G	COX15	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 137016	NM_078470.6(COX15):c.548G>A (p.Arg183His)	COX15 (R183H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 880479	NM_078470.6(COX15):c.495G>T (p.Leu165=)	COX15	Single nucleotide variant (synonymous variant +2 more)	Leigh syndrome	GUncertain significance
Select item 298417	NM_078470.6(COX15):c.406G>C (p.Asp136His)	COX15 (D136H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 877711	NM_078470.6(COX15):c.293C>T (p.Ser98Leu)	COX15 (S98L)	Single nucleotide variant (missense variant +2 more)	Leigh syndrome	GUncertain significance
Select item 298418	NM_078470.6(COX15):c.255T>C (p.Ile85=)	COX15	Single nucleotide variant (synonymous variant +2 more)	Leigh syndrome +1 more	GConflicting classifications of pathogenicity
Select item 214255	NM_078470.6(COX15):c.164G>A (p.Arg55Lys)	COX15 (R55K)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 298419	NM_078470.6(COX15):c.161G>A (p.Gly54Glu)	COX15 (G54E)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance

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