ENTPD1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58776	GRCh38/hg38 10q23.33-24.2(chr10:92626680-97755102)x1	LOC105378448, LOC107195252 +245 more	Copy number loss	See cases	GPathogenic
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 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	ABCC2, ABLIM1 +821 more	Copy number gain	See cases	GPathogenic
Select item 59401	GRCh38/hg38 10q24.1(chr10:95606298-95966000)x1	C10orf131, CC2D2B +24 more	Copy number loss	See cases	GUncertain significance
Select item 673866	NM_015631.5(TCTN3):c.-296C>T	ENTPD1, TCTN3	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 1204246	NC_000010.11:g.95694421del	ENTPD1, TCTN3	Deletion	not provided	GLikely benign
Select item 1231867	NC_000010.11:g.95694421T>A	ENTPD1, TCTN3	Single nucleotide variant	not provided	GBenign
Select item 1280603	NC_000010.11:g.95694433_95694435del	ENTPD1, TCTN3	Deletion	not provided	GBenign
Select item 1273184	NC_000010.11:g.95694422A>T	TCTN3, ENTPD1	Single nucleotide variant	not provided	GBenign
Select item 1228517	NC_000010.11:g.95694435del	ENTPD1, TCTN3	Deletion	not provided	GBenign
Select item 1227410	NC_000010.11:g.95694423A>T	ENTPD1, TCTN3	Single nucleotide variant	not provided	GBenign
Select item 1276508	NC_000010.11:g.95694424_95694425insTT	ENTPD1, TCTN3	Insertion	not provided	GBenign
Select item 1300977	NM_001098175.2(ENTPD1):c.-131T>C	ENTPD1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 2498467	NM_001098175.2(ENTPD1):c.33G>A (p.Gln11=)	ENTPD1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1292728	NM_001098175.2(ENTPD1):c.37+175T>C	ENTPD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2576127	NM_001098175.2(ENTPD1):c.37+15668T>G	ENTPD1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1249702	NM_001098175.2(ENTPD1):c.37+43387G>A	ENTPD1, ENTPD1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 64 +1 more	GBenign
Select item 547899	NM_001320916.1(ENTPD1):c.52G>A (p.Glu18Lys)	ENTPD1, ENTPD1-AS1 +1 more (E18K)	Single nucleotide variant (non-coding transcript variant +3 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1234750	NM_001776.4(ENTPD1):c.-409T>C	ENTPD1, LOC130004411 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1344321	NM_001776.5(ENTPD1):c.-86A>C	ENTPD1, ENTPD1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 1620047	NM_001776.6(ENTPD1):c.16+13T>C	ENTPD1, ENTPD1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 64	GLikely benign
Select item 1274919	NM_001776.6(ENTPD1):c.16+273del	ENTPD1, ENTPD1-AS1	Deletion (non-coding transcript variant +1 more)	not provided	GBenign
Select item 154235	GRCh38/hg38 10q24.1(chr10:95790119-96029414)x1	C10orf131, CC2D2B +13 more	Copy number loss	See cases	GLikely benign
Select item 1342044	NM_001776.6(ENTPD1):c.17-26T>C	ENTPD1, ENTPD1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980704	NM_001776.6(ENTPD1):c.17-16C>T	ENTPD1, ENTPD1-AS1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 64	GLikely benign
Select item 2980534	NM_001776.6(ENTPD1):c.17-13C>T	ENTPD1, ENTPD1-AS1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 64	GLikely benign
Select item 1899010	NM_001776.6(ENTPD1):c.19T>G (p.Ser7Ala)	ENTPD1, ENTPD1-AS1 (S19A +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1654089	NM_001776.6(ENTPD1):c.24C>T (p.Asn8=)	ENTPD1, ENTPD1-AS1	Single nucleotide variant (synonymous variant +2 more)	ENTPD1-related condition +1 more	GLikely benign
Select item 374088	NM_001776.6(ENTPD1):c.25G>A (p.Val9Met)	ENTPD1, ENTPD1-AS1 (V16M +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 64 +4 more	GUncertain significance
Select item 2305548	NM_001776.6(ENTPD1):c.29A>C (p.Lys10Thr)	ENTPD1-AS1, ENTPD1 (K10T +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1351116	NM_001776.6(ENTPD1):c.39C>T (p.Cys13=)	ENTPD1, ENTPD1-AS1	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia 64	GLikely benign
Select item 2849350	NM_001776.6(ENTPD1):c.43A>G (p.Lys15Glu)	ENTPD1, ENTPD1-AS1 (K15E +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 64	GUncertain significance
Select item 2271031	NM_001776.6(ENTPD1):c.64G>T (p.Gly22Cys)	ENTPD1-AS1, ENTPD1 (G22C +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1365381	NM_001776.6(ENTPD1):c.78C>G (p.Ile26Met)	ENTPD1, ENTPD1-AS1 (I33M +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 64	GUncertain significance
Select item 2526907	NM_001776.6(ENTPD1):c.134A>C (p.Glu45Ala)	ENTPD1, ENTPD1-AS1 (E52A +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2990811	NM_001776.6(ENTPD1):c.138C>T (p.Asn46=)	ENTPD1, ENTPD1-AS1	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia 64	GLikely benign
Select item 1344315	NM_001776.6(ENTPD1):c.139G>A (p.Val47Ile)	ENTPD1, ENTPD1-AS1 (V47I +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 1040596	NM_001776.6(ENTPD1):c.144+10A>G	ENTPD1, ENTPD1-AS1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 64	GUncertain significance
Select item 2714795	NM_001776.6(ENTPD1):c.145-13G>A	ENTPD1, ENTPD1-AS1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 64	GLikely benign
Select item 2107649	NM_001776.6(ENTPD1):c.145-11G>A	ENTPD1, ENTPD1-AS1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 64	GLikely benign
Select item 2409839	NM_001776.6(ENTPD1):c.146A>G (p.Tyr49Cys)	ENTPD1-AS1, ENTPD1 (Y49C +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1567964	NM_001776.6(ENTPD1):c.165G>C (p.Ala55=)	ENTPD1, ENTPD1-AS1	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia 64	GLikely benign
Select item 474860	NM_001776.6(ENTPD1):c.177C>G (p.His59Gln)	ENTPD1, ENTPD1-AS1 (H66Q +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 64	GUncertain significance
Select item 2180493	NM_001776.6(ENTPD1):c.189C>T (p.Tyr63=)	ENTPD1, ENTPD1-AS1	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia 64	GLikely benign
Select item 2048205	NM_001776.6(ENTPD1):c.228C>T (p.Gly76=)	ENTPD1, ENTPD1-AS1	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia 64	GLikely benign
Select item 1003440	NM_001776.6(ENTPD1):c.229G>A (p.Val77Met)	ENTPD1, ENTPD1-AS1 (V77M +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 64 +1 more	GUncertain significance
Select item 1167097	NM_001776.6(ENTPD1):c.234G>C (p.Val78=)	ENTPD1, ENTPD1-AS1	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign
Select item 2043259	NM_001776.6(ENTPD1):c.259A>G (p.Lys87Glu)	ENTPD1, ENTPD1-AS1 (K87E +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 64	GUncertain significance
Select item 765121	NM_001776.6(ENTPD1):c.262+9A>G	ENTPD1, ENTPD1-AS1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 64	GLikely benign
Select item 1601921	NM_001776.6(ENTPD1):c.262+17G>A	ENTPD1, ENTPD1-AS1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 64	GLikely benign
Select item 1293398	NM_001776.6(ENTPD1):c.263-207A>G	ENTPD1, ENTPD1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260913	NM_001776.6(ENTPD1):c.263-127A>G	ENTPD1, ENTPD1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1165130	NM_001776.6(ENTPD1):c.263-10T>C	ENTPD1, ENTPD1-AS1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 64 +1 more	GBenign
Select item 1052295	NM_001776.6(ENTPD1):c.284T>C (p.Val95Ala)	ENTPD1, ENTPD1-AS1 (V102A +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 64	GUncertain significance
Select item 2262917	NM_001776.6(ENTPD1):c.304G>C (p.Gly102Arg)	ENTPD1, ENTPD1-AS1 (G102R +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 859183	NM_001776.6(ENTPD1):c.325A>C (p.Met109Leu)	ENTPD1, ENTPD1-AS1 (M1L +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 64 +1 more	GUncertain significance
Select item 474861	NM_001776.6(ENTPD1):c.329A>T (p.Glu110Val)	ENTPD1, ENTPD1-AS1 (E110V +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 64	GUncertain significance
Select item 1344318	NM_001776.6(ENTPD1):c.376G>A (p.Val126Ile)	ENTPD1, ENTPD1-AS1 (V126I +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 2717506	NM_001776.6(ENTPD1):c.393G>A (p.Thr131=)	ENTPD1, ENTPD1-AS1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 64	GLikely benign
Select item 2478573	NM_001776.6(ENTPD1):c.395C>A (p.Ala132Glu)	ENTPD1, ENTPD1-AS1 (A144E +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2153312	NM_001776.6(ENTPD1):c.399C>T (p.Gly133=)	ENTPD1, ENTPD1-AS1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 64	GUncertain significance
Select item 561218	NM_001776.6(ENTPD1):c.401T>G (p.Met134Arg)	ENTPD1, ENTPD1-AS1 (M134R +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 64	GUncertain significance
Select item 1537497	NM_001776.6(ENTPD1):c.405G>T (p.Arg135=)	ENTPD1, ENTPD1-AS1	Single nucleotide variant (intron variant +1 more)	Hereditary spastic paraplegia 64	GLikely benign
Select item 1800605	NM_001776.6(ENTPD1):c.413+210dup	ENTPD1, ENTPD1-AS1	Duplication (intron variant)	not provided	GLikely benign
Select item 1265195	NM_001776.6(ENTPD1):c.413+210del	ENTPD1, ENTPD1-AS1	Deletion (intron variant)	not provided	GBenign
Select item 2723348	NM_001776.6(ENTPD1):c.414-17G>T	ENTPD1, ENTPD1-AS1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 64	GLikely benign
Select item 1976205	NM_001776.6(ENTPD1):c.414-11_414-8del	ENTPD1, ENTPD1-AS1	Deletion (intron variant)	Hereditary spastic paraplegia 64	GLikely benign
Select item 2038172	NM_001776.6(ENTPD1):c.414-13T>C	ENTPD1, ENTPD1-AS1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 64	GLikely benign
Select item 2149170	NM_001776.6(ENTPD1):c.414-6G>T	ENTPD1, ENTPD1-AS1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 64	GLikely benign
Select item 1093357	NM_001776.6(ENTPD1):c.414-6G>A	ENTPD1, ENTPD1-AS1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 64	GLikely benign
Select item 2157361	NM_001776.6(ENTPD1):c.419A>C (p.Glu140Ala)	ENTPD1, ENTPD1-AS1 (E32A +4 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 64	GUncertain significance
Select item 1344319	NM_001776.6(ENTPD1):c.424G>C (p.Glu142Gln)	ENTPD1, ENTPD1-AS1 (E142Q +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 958666	NM_001776.6(ENTPD1):c.441G>C (p.Arg147Ser)	ENTPD1, ENTPD1-AS1 (R147S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1040141	NM_001776.6(ENTPD1):c.454G>T (p.Val152Leu)	ENTPD1, ENTPD1-AS1 (V14L +4 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 64 +1 more	GUncertain significance
Select item 792147	NM_001776.6(ENTPD1):c.459G>A (p.Glu153=)	ENTPD1, ENTPD1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2079956	NM_001776.6(ENTPD1):c.479C>T (p.Pro160Leu)	ENTPD1, ENTPD1-AS1 (P52L +4 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 64	GUncertain significance
Select item 855823	NM_001776.6(ENTPD1):c.491A>G (p.Gln164Arg)	ENTPD1, ENTPD1-AS1 (Q176R +4 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 64	GUncertain significance
Select item 1810737	NM_001776.6(ENTPD1):c.509C>T (p.Thr170Ile)	ENTPD1, ENTPD1-AS1 (T170I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 101077	NM_001776.6(ENTPD1):c.520G>T (p.Glu174Ter)	ENTPD1, ENTPD1-AS1 (E181* +4 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 64	GPathogenic
Select item 2663477	NM_001776.6(ENTPD1):c.536G>A (p.Trp179Ter)	ENTPD1, ENTPD1-AS1 (W179* +4 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1380587	NM_001776.6(ENTPD1):c.537G>T (p.Trp179Cys)	ENTPD1, ENTPD1-AS1 (W179C +4 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 64	GUncertain significance
Select item 1359883	NM_001776.6(ENTPD1):c.551A>C (p.Tyr184Ser)	ENTPD1, ENTPD1-AS1 (Y196S +4 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 64	GUncertain significance
Select item 1167053	NM_001776.6(ENTPD1):c.573+14A>G	ENTPD1, ENTPD1-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1927165	NM_001776.6(ENTPD1):c.573+16C>T	ENTPD1, ENTPD1-AS1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 64	GLikely benign
Select item 1229795	NM_001776.6(ENTPD1):c.573+111T>C	ENTPD1, ENTPD1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300976	NM_001776.6(ENTPD1):c.573+136G>T	ENTPD1, ENTPD1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1288652	NM_001776.6(ENTPD1):c.573+259A>T	ENTPD1, ENTPD1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234347	NM_001776.6(ENTPD1):c.574-173T>C	ENTPD1, ENTPD1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293401	NM_001776.6(ENTPD1):c.574-57C>G	ENTPD1, ENTPD1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2041695	NM_001776.6(ENTPD1):c.574-20G>A	ENTPD1, ENTPD1-AS1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 64	GLikely benign
Select item 802624	NM_001776.6(ENTPD1):c.574-6_574-3del	ENTPD1, ENTPD1-AS1	Deletion (intron variant)	Hereditary spastic paraplegia 64	GLikely pathogenic
Select item 1516784	NM_001776.6(ENTPD1):c.595G>A (p.Val199Ile)	ENTPD1, ENTPD1-AS1 (V199I +4 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 64	GUncertain significance
Select item 1474607	NM_001776.6(ENTPD1):c.599C>T (p.Pro200Leu)	ENTPD1, ENTPD1-AS1 (P62L +4 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 64	GUncertain significance
Select item 2472915	NM_001776.6(ENTPD1):c.604G>A (p.Glu202Lys)	ENTPD1, ENTPD1-AS1 (E202K +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 638354	NM_001776.6(ENTPD1):c.623C>A (p.Thr208Asn)	ENTPD1, ENTPD1-AS1 (T208N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 101076	NM_001776.6(ENTPD1):c.628G>A (p.Gly210Arg)	ENTPD1, ENTPD1-AS1 (G217R +4 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 64	GPathogenic
Select item 2443794	NM_001776.6(ENTPD1):c.640del (p.Gly216fs)	ENTPD1, ENTPD1-AS1 (G108fs +4 more)	Deletion (frameshift variant)	Hereditary spastic paraplegia 64	GPathogenic
Select item 2195584	NM_001776.6(ENTPD1):c.656C>T (p.Thr219Ile)	ENTPD1, ENTPD1-AS1 (T111I +4 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 64	GUncertain significance
Select item 848263	NM_001776.6(ENTPD1):c.670G>A (p.Val224Ile)	ENTPD1, ENTPD1-AS1 (V231I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1593511	NM_001776.6(ENTPD1):c.684G>A (p.Gln228=)	ENTPD1, ENTPD1-AS1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 64	GLikely benign

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