ClinVar for Gene (Select 57089) - ClinVar

Links from Gene

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3275557	NM_020354.5(ENTPD7):c.1222A>G (p.Ile408Val)	COX15, ENTPD7 (I408V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275556	NM_020354.5(ENTPD7):c.1422A>G (p.Lys474=)	COX15, ENTPD7	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3275555	NM_020354.5(ENTPD7):c.1210T>C (p.Tyr404His)	COX15, ENTPD7 (Y404H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089117	NM_020354.5(ENTPD7):c.962G>A (p.Arg321Gln)	COX15, ENTPD7 (R321Q +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3089116	NM_020354.5(ENTPD7):c.77G>A (p.Arg26His)	ENTPD7 (R26H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089115	NM_020354.5(ENTPD7):c.76C>T (p.Arg26Cys)	ENTPD7 (R28C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089114	NM_020354.5(ENTPD7):c.65G>A (p.Ser22Asn)	ENTPD7 (S22N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089112	NM_020354.5(ENTPD7):c.599T>C (p.Phe200Ser)	ENTPD7 (F202S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089111	NM_020354.5(ENTPD7):c.475G>T (p.Val159Leu)	ENTPD7 (V159L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089110	NM_020354.5(ENTPD7):c.1449G>A (p.Met483Ile)	COX15, ENTPD7 (M483I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089109	NM_020354.5(ENTPD7):c.130A>G (p.Met44Val)	ENTPD7 (M44V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063183	GRCh37/hg19 10q23.33-24.2(chr10:94283369-101820913)x1	ABCC2, ACSM6 +74 more	Copy number loss	not specified	GPathogenic
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 2624328	NM_020354.5(ENTPD7):c.1700T>C (p.Leu567Pro)	COX15, ENTPD7 (L567P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611358	NM_020354.5(ENTPD7):c.1211A>T (p.Tyr404Phe)	COX15, ENTPD7 (Y404F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598809	NM_020354.5(ENTPD7):c.1631G>A (p.Arg544His)	COX15, ENTPD7 (R544H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591722	NM_020354.5(ENTPD7):c.1184C>T (p.Thr395Ile)	COX15, ENTPD7 (T397I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2569689	NM_020354.5(ENTPD7):c.1541C>T (p.Thr514Met)	COX15, ENTPD7 (T516M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555250	NM_020354.5(ENTPD7):c.1009A>G (p.Arg337Gly)	COX15, ENTPD7 (R337G +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2548977	NM_020354.5(ENTPD7):c.1516G>A (p.Val506Met)	COX15, ENTPD7 (V508M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544953	NM_020354.5(ENTPD7):c.372A>C (p.Gln124His)	ENTPD7 (Q124H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527836	NM_020354.5(ENTPD7):c.194A>C (p.Tyr65Ser)	ENTPD7 (Y67S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513313	NM_020354.5(ENTPD7):c.181C>A (p.Gln61Lys)	ENTPD7 (Q61K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509625	NM_020354.5(ENTPD7):c.535C>T (p.Leu179Phe)	ENTPD7 (L181F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495315	NM_020354.5(ENTPD7):c.1502G>A (p.Arg501Gln)	COX15, ENTPD7 (R503Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2490226	NM_020354.5(ENTPD7):c.1508C>A (p.Ala503Asp)	COX15, ENTPD7 (A503D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472411	NM_020354.5(ENTPD7):c.910G>A (p.Val304Met)	COX15, ENTPD7 (V304M +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2424090	NC_000010.10:g.(?_99344461)_(105992004_?)dup	CPN1, CRTAC1 +95 more	Duplication	not provided	GUncertain significance
Select item 2387336	NM_020354.5(ENTPD7):c.1615C>T (p.His539Tyr)	COX15, ENTPD7 (H539Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385660	NM_020354.5(ENTPD7):c.343A>G (p.Ile115Val)	ENTPD7 (I117V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381098	NM_020354.5(ENTPD7):c.1630C>T (p.Arg544Cys)	COX15, ENTPD7 (R544C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272958	NM_020354.5(ENTPD7):c.389T>C (p.Ile130Thr)	ENTPD7 (I132T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247057	NM_020354.5(ENTPD7):c.968G>A (p.Arg323His)	COX15, ENTPD7 (R323H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2242417	NM_020354.5(ENTPD7):c.749G>A (p.Arg250Gln)	ENTPD7 (R252Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208163	NM_020354.5(ENTPD7):c.1568G>A (p.Arg523Gln)	COX15, ENTPD7 (R525Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207728	NM_020354.5(ENTPD7):c.1209A>G (p.Ile403Met)	COX15, ENTPD7 (I403M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1460184	NC_000010.10:g.(?_100177321)_(101611388_?)del	ABCC2, CNNM1 +8 more	Deletion	not provided	GPathogenic
Select item 880394	NM_004376.5(COX15):c.*3211G>A	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GUncertain significance
Select item 880393	NM_004376.5(COX15):c.*3411G>C	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GUncertain significance
Select item 880392	NM_004376.5(COX15):c.*3470G>C	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GUncertain significance
Select item 880391	NM_004376.5(COX15):c.*3564C>T	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GUncertain significance
Select item 879192	NM_004376.5(COX15):c.*3618A>G	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GUncertain significance
Select item 879191	NM_004376.5(COX15):c.*3652A>G	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GUncertain significance
Select item 879190	NM_004376.5(COX15):c.*3800C>A	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GUncertain significance
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 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 878592	NM_004376.5(COX15):c.*4181C>A	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GUncertain significance
Select item 878591	NM_004376.5(COX15):c.*4212G>A	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GUncertain significance
Select item 877634	NM_078470.6(COX15):c.*3638C>T	ENTPD7, COX15	Single nucleotide variant (3 prime UTR variant +2 more)	Leigh syndrome	GUncertain significance
Select item 877633	NM_004376.5(COX15):c.*2701C>T	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GUncertain significance
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441822	GRCh37/hg19 10q23.32-24.2(chr10:93908171-101809723)x1	ABCC2, ACSM6 +76 more	Copy number loss	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 377387	GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1	CYP17A1, KLLN +206 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
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 298386	NM_020354.5(ENTPD7):c.6425_6426dup	COX15, ENTPD7	Duplication (3 prime UTR variant +2 more)	not provided +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 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 298383	NM_004376.5(COX15):c.*2640T>G	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GLikely benign
Select item 298382	NM_004376.5(COX15):c.*2742A>G	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GUncertain significance
Select item 298381	NM_004376.5(COX15):c.*2841G>A	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GUncertain significance
Select item 298380	NM_004376.5(COX15):c.*2842T>C	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GUncertain significance
Select item 298379	NM_004376.5(COX15):c.*3086G>T	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GUncertain significance
Select item 298378	NM_004376.5(COX15):c.*3210C>T	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GUncertain significance
Select item 298377	NM_004376.5(COX15):c.*3268A>C	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GBenign
Select item 298376	NM_004376.5(COX15):c.*3330A>G	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GUncertain significance
Select item 298375	NM_004376.5(COX15):c.*3566C>T	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GBenign
Select item 298374	NM_004376.5(COX15):c.*3647A>T	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 298373	NM_004376.5(COX15):c.*3661T>C	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GLikely benign
Select item 298372	NM_004376.5(COX15):c.*3729C>G	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GUncertain significance
Select item 298371	NM_004376.5(COX15):c.*3755G>A	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GUncertain significance
Select item 298370	NM_004376.5(COX15):c.*3817A>G	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GUncertain significance
Select item 298369	NM_004376.5(COX15):c.*4110T>G	ENTPD7, COX15	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GUncertain significance
Select item 298368	NM_004376.5(COX15):c.*4152C>T	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GUncertain significance
Select item 298367	NM_004376.5(COX15):c.*4218C>T	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GLikely benign
Select item 298366	NM_004376.5(COX15):c.*4392G>A	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GUncertain significance
Select item 298365	NM_004376.5(COX15):c.*4435A>G	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GUncertain significance
Select item 298364	NM_004376.5(COX15):c.*4439G>A	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 298363	NM_004376.5(COX15):c.*4441G>C	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GUncertain significance
Select item 298362	NM_004376.5(COX15):c.*4473T>C	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GLikely benign
Select item 252727	NM_020354.5(ENTPD7):c.1311del (p.Pro438fs)	COX15, ENTPD7 (P438fs +1 more)	Deletion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 146346	GRCh38/hg38 10q24.2-24.31(chr10:99386632-100648221)x3	ABCC2, BLOC1S2 +72 more	Copy number gain	See cases	GUncertain significance
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 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 91