ClinVar for Gene (Select 955) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3275554	NM_001247.5(ENTPD6):c.230C>G (p.Ala77Gly)	ENTPD6 (A60G +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3275552	NM_001247.5(ENTPD6):c.1375A>G (p.Asn459Asp)	ENTPD6 (N207D +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275551	NM_001247.5(ENTPD6):c.1102G>A (p.Val368Met)	ENTPD6 (V303M +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248344	NC_000020.10:g.(?_25056897)_(25426627_?)dup	ABHD12, ENTPD6 +3 more	Duplication	not provided	GUncertain significance
Select item 3089108	NM_001247.5(ENTPD6):c.892G>A (p.Gly298Arg)	ENTPD6 (G295R +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089107	NM_001247.5(ENTPD6):c.790C>T (p.Arg264Cys)	ENTPD6 (R246C +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089106	NM_001247.5(ENTPD6):c.783C>G (p.Phe261Leu)	ENTPD6 (F196L +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089105	NM_001247.5(ENTPD6):c.778G>A (p.Ala260Thr)	ENTPD6 (A212T +7 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3089103	NM_001247.5(ENTPD6):c.716T>G (p.Leu239Trp)	ENTPD6 (L174W +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089102	NM_001247.5(ENTPD6):c.66C>A (p.His22Gln)	ENTPD6 (H5Q +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3089101	NM_001247.5(ENTPD6):c.47T>C (p.Ile16Thr)	ENTPD6 (I16T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3089100	NM_001247.5(ENTPD6):c.241G>C (p.Ala81Pro)	ENTPD6 (A78P +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3089099	NM_001247.5(ENTPD6):c.1406T>C (p.Ile469Thr)	ENTPD6 (I435T +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089098	NM_001247.5(ENTPD6):c.1112C>T (p.Thr371Met)	ENTPD6 (T153M +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089097	NM_001247.5(ENTPD6):c.1060G>A (p.Glu354Lys)	ENTPD6 (E102K +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590788	NM_001247.5(ENTPD6):c.307G>A (p.Gly103Arg)	ENTPD6 (G100R +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2559954	NM_001247.5(ENTPD6):c.1169C>T (p.Ala390Val)	ENTPD6 (A353V +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549936	NM_001247.5(ENTPD6):c.347A>C (p.His116Pro)	ENTPD6 (H115P +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2527138	NM_001247.5(ENTPD6):c.644G>A (p.Cys215Tyr)	ENTPD6 (C167Y +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513484	NM_001247.5(ENTPD6):c.158T>C (p.Val53Ala)	ENTPD6 (V36A +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2499655	GRCh38/hg38 20p11.21(chr20:25121080-25485829)	ABHD12, ENTPD6 +31 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 2423578	NC_000020.10:g.(?_25056897)_(25320007_?)dup	ABHD12, ENTPD6 +2 more	Duplication	not provided	GUncertain significance
Select item 2403813	NM_001247.5(ENTPD6):c.386C>T (p.Thr129Met)	ENTPD6 (T111M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402858	NM_001247.5(ENTPD6):c.1159G>A (p.Asp387Asn)	ENTPD6 (D169N +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401475	NM_001247.5(ENTPD6):c.557G>A (p.Arg186His)	ENTPD6 (R183H +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2396065	NM_001247.5(ENTPD6):c.947A>T (p.Lys316Met)	ENTPD6 (K268M +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365010	NM_001247.5(ENTPD6):c.1268C>T (p.Pro423Leu)	ENTPD6 (P386L +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356629	NM_001247.5(ENTPD6):c.791G>A (p.Arg264His)	ENTPD6 (R199H +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282825	NM_001247.5(ENTPD6):c.842G>A (p.Arg281Gln)	ENTPD6 (R264Q +7 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2235830	NM_001247.5(ENTPD6):c.199G>A (p.Ala67Thr)	ENTPD6 (A50T +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2220492	NM_001247.5(ENTPD6):c.163A>G (p.Ile55Val)	ENTPD6 (I38V +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1526689	GRCh37/hg19 20p11.21(chr20:25061392-25482415)	ABHD12, ENTPD6 +4 more	Copy number gain	not specified	GUncertain significance
Select item 1526688	GRCh37/hg19 20p11.21-q11.21(chr20:24162775-31820857)	ABHD12, ACSS1 +50 more	Copy number gain	not specified	GLikely pathogenic
Select item 1341087	GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3	ABHD12, ACSS1 +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 979562	GRCh37/hg19 20p11.23-q11.21(chr20:19750804-30479077)x3	CST9, ACSS1 +57 more	Copy number gain	not provided	GLikely pathogenic
Select item 816102	GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3	ABHD12, ACSS1 +177 more	Copy number gain	not provided	GPathogenic
Select item 790770	NM_001247.5(ENTPD6):c.1284C>T (p.Phe428=)	ENTPD6 (L440F +6 more)	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 713732	NM_001247.5(ENTPD6):c.1306G>A (p.Val436Ile)	ENTPD6 (R232H +18 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 686745	GRCh37/hg19 20p11.21(chr20:24232978-25520939)x3	ABHD12, ACSS1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 564627	GRCh37/hg19 20p11.21(chr20:25061392-25482415)x3	ABHD12, PYGB +4 more	Copy number gain	not provided	GUncertain significance
Select item 560101	Single allele	HCK, HM13 +89 more	Duplication	not provided	GPathogenic
Select item 443671	GRCh37/hg19 20p11.21-q11.21(chr20:24876569-30494851)x3	ABHD12, ACSS1 +27 more	Copy number gain	See cases	GUncertain significance
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 442830	GRCh37/hg19 20p11.23-11.1(chr20:18500917-25847320)x1	ABHD12, ACSS1 +44 more	Copy number loss	See cases	GPathogenic
Select item 424642	GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3	ESF1, FAM110A +178 more	Copy number gain	not provided	GPathogenic
Select item 394073	GRCh37/hg19 20p11.21(chr20:24930152-25195470)x3	ACSS1, APMAP +3 more	Copy number gain	See cases	GUncertain significance
Select item 253759	GRCh37/hg19 20p11.21-11.1(chr20:25039251-26067042)x3	NINL, VSX1 +6 more	Copy number gain	See cases	GUncertain significance
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 253408	GRCh37/hg19 20p12.1-q11.21(chr20:17705775-31600738)x3	CCM2L, CD93 +89 more	Copy number gain	See cases	GPathogenic
Select item 155473	GRCh38/hg38 20p11.21(chr20:25031679-25625520)x3	LOC130065583, LOC130065584 +45 more	Copy number gain	See cases	GUncertain significance
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 59196	GRCh38/hg38 20p11.22-q11.1(chr20:22061586-30285812)x3	ABHD12, ACSS1 +174 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 58971	GRCh38/hg38 20p11.21(chr20:25099947-25468308)x3	ABHD12, ENTPD6 +30 more	Copy number gain	See cases	GUncertain significance
Select item 58970	GRCh38/hg38 20p11.21(chr20:25089431-25492048)x3	ABHD12, ENTPD6 +31 more	Copy number gain	See cases	GUncertain significance
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 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: 59