ENTPD6[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	ABHD12, ACSS1 +833 more	Copy number gain	See cases	GPathogenic
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	LOC126863004, LOC126863005 +814 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC130065574, LOC130065575 +950 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 155473	GRCh38/hg38 20p11.21(chr20:25031679-25625520)x3	LOC130065583, LOC130065584 +45 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 58971	GRCh38/hg38 20p11.21(chr20:25099947-25468308)x3	ABHD12, ENTPD6 +30 more	Copy number gain	See cases	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2423578	NC_000020.10:g.(?_25056897)_(25320007_?)dup	ABHD12, ENTPD6 +2 more	Duplication	not provided	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 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	CST11, CST2 +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)	DZANK1, E2F1 +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	CST1, NAPB +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	CD93, PDRG1 +89 more	Copy number gain	See cases	GPathogenic

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Items: 55