ClinVar for Gene (Select 9583) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3275548	NM_004901.5(ENTPD4):c.1439A>G (p.His480Arg)	ENTPD4 (H472R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275547	NM_004901.5(ENTPD4):c.1453A>G (p.Arg485Gly)	ENTPD4 (R485G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275546	NM_004901.5(ENTPD4):c.1088C>A (p.Pro363Gln)	ENTPD4 (P355Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275545	NM_004901.5(ENTPD4):c.1655A>T (p.His552Leu)	ENTPD4 (H552L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275544	NM_004901.5(ENTPD4):c.401A>G (p.Lys134Arg)	ENTPD4 (K134R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275543	NM_004901.5(ENTPD4):c.58C>T (p.Pro20Ser)	ENTPD4 (P20S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275541	NM_004901.5(ENTPD4):c.1694A>G (p.Tyr565Cys)	ENTPD4 (Y557C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275540	NM_004901.5(ENTPD4):c.949G>C (p.Val317Leu)	ENTPD4 (V309L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275539	NM_004901.5(ENTPD4):c.500C>A (p.Ala167Glu)	ENTPD4 (A167E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275538	NM_004901.5(ENTPD4):c.775G>A (p.Glu259Lys)	ENTPD4 (E259K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089087	NM_004901.5(ENTPD4):c.65G>A (p.Gly22Glu)	ENTPD4 (G22E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089086	NM_004901.5(ENTPD4):c.523T>A (p.Tyr175Asn)	ENTPD4 (Y175N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089085	NM_004901.5(ENTPD4):c.374A>G (p.Asp125Gly)	ENTPD4 (D125G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089084	NM_004901.5(ENTPD4):c.304G>A (p.Val102Ile)	ENTPD4 (V102I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3089083	NM_004901.5(ENTPD4):c.212T>G (p.Leu71Arg)	ENTPD4 (L71R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089082	NM_004901.5(ENTPD4):c.1838C>T (p.Pro613Leu)	ENTPD4 (P613L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089081	NM_004901.5(ENTPD4):c.1760G>A (p.Arg587His)	ENTPD4 (R587H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089080	NM_004901.5(ENTPD4):c.1439A>T (p.His480Leu)	ENTPD4 (H472L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089079	NM_004901.5(ENTPD4):c.1421G>A (p.Arg474Gln)	ENTPD4 (R466Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089078	NM_004901.5(ENTPD4):c.1241A>G (p.Asn414Ser)	ENTPD4 (N414S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089077	NM_004901.5(ENTPD4):c.1046A>G (p.Asn349Ser)	ENTPD4 (N349S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063038	GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3	ADAM18, ADAM2 +150 more	Copy number gain	not specified	GPathogenic
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	ADAM18, ADAM2 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2685305	GRCh37/hg19 8p21.3-21.2(chr8:23149628-23304899)x1	ENTPD4, LOXL2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2685301	GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1	HR, MIR320A +95 more	Copy number loss	not provided	GPathogenic
Select item 2684529	GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	ADAM18, ADAM2 +176 more	Copy number gain	not provided	GPathogenic
Select item 2684528	GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3	ADAM28, ADAM7 +145 more	Copy number gain	not provided	GPathogenic
Select item 2684526	GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3	ADAM28, ADAM7 +140 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	SMIM18, SORBS3 +225 more	Copy number gain	not provided	GPathogenic
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 2658481	NM_004901.5(ENTPD4):c.801G>A (p.Ala267=)	ENTPD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2619917	NM_004901.5(ENTPD4):c.711T>G (p.Phe237Leu)	ENTPD4 (F237L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614966	NM_004901.5(ENTPD4):c.1152A>G (p.Ile384Met)	ENTPD4 (I376M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2607363	NM_004901.5(ENTPD4):c.986G>A (p.Gly329Asp)	ENTPD4 (G329D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601919	NM_004901.5(ENTPD4):c.1276A>T (p.Ser426Cys)	ENTPD4 (S418C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599699	NM_004901.5(ENTPD4):c.388C>A (p.Pro130Thr)	ENTPD4 (P130T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595430	NM_004901.5(ENTPD4):c.704G>A (p.Gly235Glu)	ENTPD4 (G235E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588520	NM_004901.5(ENTPD4):c.1237C>T (p.Leu413Phe)	ENTPD4 (L405F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	LOC126860300, LOC126860301 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 2560025	NM_004901.5(ENTPD4):c.1412G>T (p.Arg471Leu)	ENTPD4 (R463L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558257	NM_004901.5(ENTPD4):c.713A>G (p.Glu238Gly)	ENTPD4 (E238G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538969	NM_004901.5(ENTPD4):c.1300T>C (p.Phe434Leu)	ENTPD4 (F426L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519788	NM_004901.5(ENTPD4):c.1392G>C (p.Lys464Asn)	ENTPD4 (K456N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519230	NM_004901.5(ENTPD4):c.452A>G (p.Asp151Gly)	ENTPD4 (D151G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517552	NM_004901.5(ENTPD4):c.788G>A (p.Arg263His)	ENTPD4 (R263H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2499083	GRCh37/hg19 8p21.3-21.2(chr8:21925038-26372195)x1	ADAM28, ADAM7 +46 more	Copy number loss	not provided	GLikely pathogenic
Select item 2495232	NM_004901.5(ENTPD4):c.1551G>T (p.Leu517Phe)	ENTPD4 (L509F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484412	NM_004901.5(ENTPD4):c.1640C>T (p.Ala547Val)	ENTPD4 (A547V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477857	NM_004901.5(ENTPD4):c.1124A>G (p.Asp375Gly)	ENTPD4 (D367G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471733	NM_004901.5(ENTPD4):c.752A>T (p.Asn251Ile)	ENTPD4 (N251I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405844	NM_004901.5(ENTPD4):c.929A>G (p.Asp310Gly)	ENTPD4 (D302G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382699	NM_004901.5(ENTPD4):c.1405C>T (p.Arg469Trp)	ENTPD4 (R461W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382414	NM_004901.5(ENTPD4):c.410C>G (p.Pro137Arg)	ENTPD4 (P137R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355510	NM_004901.5(ENTPD4):c.1195A>C (p.Ile399Leu)	ENTPD4 (I399L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2347312	NM_004901.5(ENTPD4):c.61G>C (p.Val21Leu)	ENTPD4 (V21L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325277	NM_004901.5(ENTPD4):c.469T>G (p.Leu157Val)	ENTPD4 (L157V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304715	NM_004901.5(ENTPD4):c.839C>T (p.Ala280Val)	ENTPD4 (A280V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286869	NM_004901.5(ENTPD4):c.1456C>G (p.Leu486Val)	ENTPD4 (L478V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275720	NM_004901.5(ENTPD4):c.1825G>A (p.Ala609Thr)	ENTPD4 (A609T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2267564	NM_004901.5(ENTPD4):c.151G>C (p.Val51Leu)	ENTPD4 (V51L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259924	NM_004901.5(ENTPD4):c.1710C>G (p.Cys570Trp)	ENTPD4 (C570W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251297	NM_004901.5(ENTPD4):c.1332G>C (p.Met444Ile)	ENTPD4 (M436I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242713	NM_004901.5(ENTPD4):c.1717G>T (p.Val573Leu)	ENTPD4 (V565L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241260	NM_004901.5(ENTPD4):c.1678T>A (p.Phe560Ile)	ENTPD4 (F560I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222052	NM_004901.5(ENTPD4):c.11T>C (p.Ile4Thr)	ENTPD4 (I4T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217153	NM_004901.5(ENTPD4):c.737C>G (p.Ala246Gly)	ENTPD4 (A246G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211513	NM_004901.5(ENTPD4):c.1606C>T (p.Arg536Cys)	ENTPD4 (R536C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208623	NM_004901.5(ENTPD4):c.1286A>G (p.Tyr429Cys)	ENTPD4 (Y421C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711134	Single allele	CDCA2, CLDN23 +250 more	Complex	See cases	GPathogenic
Select item 1707427	GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1	ADAM28, ADAM7 +180 more	Copy number loss	See cases	GPathogenic
Select item 1703665	Single allele	ADAMDEC1, ADGRA2 +251 more	Complex	8p inverted duplication/deletion syndrome	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1410288	NC_000008.10:g.(?_21900440)_(23564111_?)dup	BIN3, BMP1 +32 more	Duplication	Conotruncal heart malformations	GUncertain significance
Select item 1341975	GRCh37/hg19 8p21.3-21.2(chr8:19779604-26531980)x4	PIWIL2, STC1 +55 more	Copy number gain	not provided	GPathogenic
Select item 997076	GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)	SPAG11A, STMN4 +252 more	Copy number gain	Abnormal fetal cardiovascular morphology	GPathogenic
Select item 980854	GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3	ADAM28, ADAM7 +104 more	Copy number gain	not provided	GLikely pathogenic
Select item 688470	GRCh37/hg19 8p21.3-21.2(chr8:21662847-24199218)x1	ADAM28, BIN3 +37 more	Copy number loss	not provided	GPathogenic
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 686366	GRCh37/hg19 8p21.3-21.2(chr8:22442548-27369334)x1	ADAM28, ADAM7 +37 more	Copy number loss	not provided	GPathogenic
Select item 626288	Single allele	ADAM28, ADAM7 +124 more	Duplication	not provided	GLikely pathogenic
Select item 624504	GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3	ADAM28, ADAM7 +123 more	Copy number gain	not provided	GLikely pathogenic
Select item 563554	GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3	ADAM28, ADAM7 +124 more	Copy number gain	not provided	GPathogenic
Select item 563553	GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3	ADAM28, ADAM7 +136 more	Copy number gain	not provided	GPathogenic
Select item 563552	GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3	DLC1, DMTN +111 more	Copy number gain	not provided	GPathogenic
Select item 563489	GRCh37/hg19 8p21.3-21.2(chr8:23099163-23515760)x1	ENTPD4, LOXL2 +3 more	Copy number loss	not provided	GUncertain significance
Select item 523288	GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329)	CSGALNACT1, SFTPC +77 more	Copy number gain	Autism +7 more	GPathogenic
Select item 443715	GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3	ASAH1-AS1, ATP6V1B2 +129 more	Copy number gain	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 443194	GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3	ADAM18, ADAM2 +186 more	Copy number gain	See cases	GPathogenic
Select item 442982	GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3	ADAM28, ADAM7 +123 more	Copy number gain	See cases	GPathogenic
Select item 442330	GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3	ADAM18, ADAM28 +151 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 441074	GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1	LEPROTL1, LGI3 +109 more	Copy number loss	not provided	Gnot provided
Select item 395720	GRCh37/hg19 8p22-21.2(chr8:13091530-24483615)	ADAM28, ADAM7 +68 more	Copy number loss	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 394647	GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3	ADAM18, ADAM2 +180 more	Copy number gain	See cases	GPathogenic
Select item 253392	GRCh37/hg19 8p23.1-21.2(chr8:12580132-26774307)x3	ADAM28, ADAM7 +82 more	Copy number gain	See cases	GPathogenic

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