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)	ENTPD7, COX15 (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_020354.5(ENTPD7):c.*5520C>T	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 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 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 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 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 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 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_020354.5(ENTPD7):c.*4550G>T	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GUncertain significance
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 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_020354.5(ENTPD7):c.*6030G>A	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)	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 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_020354.5(ENTPD7):c.*6091A>C	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GLikely benign
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 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 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 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 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 298377	NM_020354.5(ENTPD7):c.*5463T>G	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GBenign
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 298375	NM_020354.5(ENTPD7):c.*5165G>A	COX15, ENTPD7	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GBenign
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 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 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 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 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 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 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 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 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 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 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 298363	NM_020354.5(ENTPD7):c.*4290C>G	ENTPD7, COX15	Single nucleotide variant (3 prime UTR variant +1 more)	Leigh syndrome	GUncertain significance
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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 91