"GeneDx"[submitter] AND "COX15"[gene] - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 more	Copy number loss	See cases	GPathogenic
Select item 57907	GRCh38/hg38 10q24.2-24.31(chr10:99333940-100475567)x3	LOC126861015, LOC129390222 +63 more	Copy number gain	See cases	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 2174587	NM_078470.6(COX15):c.*1166A>G	COX15 (N387S)	Single nucleotide variant (3 prime UTR variant +3 more)	not provided	GUncertain significance
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 683434	NM_078470.6(COX15):c.*809G>A	COX15	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 1201693	NM_078470.6(COX15):c.*316A>G	COX15	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 137014	NM_078470.6(COX15):c.1209T>C (p.Asn403=)	COX15	Single nucleotide variant (3 prime UTR variant +3 more)	not specified +1 more	GBenign
Select item 383000	NM_078470.6(COX15):c.1122G>A (p.Thr374=)	COX15 (R371H)	Single nucleotide variant (3 prime UTR variant +4 more)	not provided	GLikely benign
Select item 1268681	NM_078470.6(COX15):c.1102-24A>G	COX15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 57908	GRCh38/hg38 10q24.2(chr10:99716324-99999957)x3	ABCC2, COX15 +14 more	Copy number gain	See cases	GUncertain significance
Select item 40258	NM_078470.6(COX15):c.1030T>C (p.Ser344Pro)	COX15 (S344P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 198794	NM_078470.6(COX15):c.1026C>T (p.Phe342=)	COX15 (P291S)	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 214252	NM_078470.6(COX15):c.1015G>A (p.Val339Met)	COX15 (V339M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +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 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 1207036	NM_078470.6(COX15):c.988-136G>A	COX15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212610	NM_078470.6(COX15):c.988-323_988-318del	COX15	Deletion (intron variant)	not provided	GLikely benign
Select item 1194743	NM_078470.6(COX15):c.987+247C>G	COX15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1294353	NM_078470.6(COX15):c.987+101dup	COX15	Duplication (intron variant)	not provided	GBenign
Select item 682333	NM_078470.6(COX15):c.987+3A>G	COX15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1803545	NM_078470.6(COX15):c.969G>T (p.Gln323His)	COX15 (Q144H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 377748	NM_078470.6(COX15):c.933C>G (p.Ile311Met)	COX15 (I311M +2 more)	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 381036	NM_078470.6(COX15):c.918T>C (p.Phe306=)	COX15	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 214258	NM_078470.6(COX15):c.913C>T (p.Leu305Phe)	COX15 (L305F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 736880	NM_078470.6(COX15):c.906G>A (p.Pro302=)	COX15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1274802	NM_078470.6(COX15):c.832+194_832+195insC	COX15	Insertion (intron variant)	not provided	GBenign
Select item 1254111	NM_078470.6(COX15):c.832+193_832+194insC	COX15	Insertion (intron variant)	not provided	GBenign
Select item 674635	NM_078470.6(COX15):c.832+194A>C	COX15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267161	NM_078470.6(COX15):c.832+138_832+139dup	COX15	Duplication (intron variant)	not provided	GBenign
Select item 1971815	NM_078470.6(COX15):c.817C>T (p.Leu273Phe)	COX15 (L273F +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 514913	NM_078470.6(COX15):c.795T>C (p.His265=)	COX15	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 214257	NM_078470.6(COX15):c.794A>G (p.His265Arg)	COX15 (H265R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 514807	NM_078470.6(COX15):c.751-17dup	COX15	Duplication (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1207897	NM_078470.6(COX15):c.751-103G>A	COX15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207339	NM_078470.6(COX15):c.750+96G>C	COX15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 511626	NM_078470.6(COX15):c.750+8T>C	COX15	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 377747	NM_078470.6(COX15):c.696T>G (p.Val232=)	COX15	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
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 6175	NM_078470.6(COX15):c.649C>T (p.Arg217Trp)	COX15 (R217W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GPathogenic
Select item 1227034	NM_078470.6(COX15):c.618A>G (p.Leu206=)	COX15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 513947	NM_078470.6(COX15):c.612T>C (p.Ser204=)	COX15	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 1201279	NM_078470.6(COX15):c.583-78dup	COX15	Duplication (intron variant)	not provided	GLikely benign
Select item 1294352	NM_078470.6(COX15):c.582+62dup	COX15	Duplication (intron variant)	not provided	GBenign
Select item 1186420	NM_078470.6(COX15):c.582+62_582+63dup	COX15	Duplication (intron variant)	not provided	GLikely benign
Select item 381824	NM_078470.6(COX15):c.582+15A>G	COX15	Single nucleotide variant (intron variant)	not specified	GLikely benign
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 214266	NM_078470.6(COX15):c.520G>A (p.Gly174Ser)	COX15 (G174S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 509505	NM_078470.6(COX15):c.474T>C (p.Leu158=)	COX15	Single nucleotide variant (synonymous variant +1 more)	COX15-related condition +1 more	GLikely benign
Select item 496238	NM_078470.6(COX15):c.452C>G (p.Ser151Ter)	COX15 (S151*)	Single nucleotide variant (nonsense +1 more)	See cases +2 more	GPathogenic
Select item 280009	NM_078470.6(COX15):c.396-3C>G	COX15	Single nucleotide variant (intron variant)	Leigh syndrome +1 more	GConflicting classifications of pathogenicity
Select item 676302	NM_078470.6(COX15):c.395+97G>A	COX15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 214256	NM_078470.6(COX15):c.395+20_395+26del	COX15	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1192067	NM_078470.6(COX15):c.329C>T (p.Pro110Leu)	COX15 (P110L)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 429754	NM_078470.6(COX15):c.281_282del (p.Glu94fs)	COX15 (E94fs)	Microsatellite (frameshift variant +2 more)	not provided	GPathogenic
Select item 214264	NM_078470.6(COX15):c.281A>C (p.Glu94Ala)	COX15 (E94A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1216320	NM_078470.6(COX15):c.272+74dup	COX15	Duplication (intron variant)	not provided	GLikely benign
Select item 1294354	NM_078470.6(COX15):c.272+90_272+93del	COX15	Deletion (intron variant)	not provided	GBenign
Select item 1263742	NM_078470.6(COX15):c.272+93del	COX15	Deletion (intron variant)	not provided	GBenign
Select item 1222073	NM_078470.6(COX15):c.272+91_272+93del	COX15	Deletion (intron variant)	not provided	GBenign
Select item 2428863	NM_078470.6(COX15):c.272+2T>G	COX15	Single nucleotide variant (splice donor variant)	not provided	GPathogenic/Likely pathogenic
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 214254	NM_078470.6(COX15):c.155A>G (p.Gln52Arg)	COX15 (Q52R)	Single nucleotide variant (missense variant +2 more)	not specified	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
Select item 1228321	NM_078470.6(COX15):c.91-249A>T	COX15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200060	NM_078470.6(COX15):c.90+159C>T	COX15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 674567	NM_078470.6(COX15):c.90+27C>A	COX15, LOC130004506	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 137012	NM_078470.6(COX15):c.90+16G>A	COX15, LOC130004506	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 509456	NM_078470.6(COX15):c.90+8A>T	COX15, LOC130004506	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 214262	NM_078470.6(COX15):c.83G>C (p.Arg28Thr)	COX15, LOC130004506 (R28T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 137011	NM_078470.6(COX15):c.-23G>T	COX15	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 298432	NM_015960.3(CUTC):c.61+75G>A	COX15, CUTC	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 298434	NM_015960.3(CUTC):c.61+237T>G	COX15, CUTC	Single nucleotide variant (intron variant)	Leigh syndrome +1 more	GBenign
Select item 1202683	NM_015960.3(CUTC):c.61+511G>A	COX15, CUTC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202122	NM_015960.3(CUTC):c.61+596dup	COX15, CUTC	Duplication (intron variant)	not provided	GLikely benign

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Items: 79