ClinVar for Gene (Select 953) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244833	NC_000010.10:g.(?_97366519)_(97626140_?)del	ALDH18A1, ENTPD1 +1 more	Deletion	Cutis laxa, autosomal dominant 3 +2 more	GPathogenic
Select item 3237367	NM_001776.6(ENTPD1):c.1174C>T (p.Gln392Ter)	ENTPD1, ENTPD1-AS1 (Q254* +5 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 64	GPathogenic
Select item 3234756	NM_001776.6(ENTPD1):c.1220A>G (p.Lys407Arg)	ENTPD1, ENTPD1-AS1 (K269R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3089055	NM_001776.6(ENTPD1):c.882T>G (p.Ser294Arg)	ENTPD1, ENTPD1-AS1 (S156R +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3089054	NM_001776.6(ENTPD1):c.205G>A (p.Ala69Thr)	ENTPD1, ENTPD1-AS1 (A76T +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3089053	NM_001776.6(ENTPD1):c.1319T>C (p.Ile440Thr)	ENTPD1, ENTPD1-AS1 (I447T +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3063132	GRCh37/hg19 10q23.31-24.2(chr10:90796994-100067505)x1	ACSM6, ALDH18A1 +83 more	Copy number loss	not specified	GPathogenic
Select item 3026582	NM_001776.6(ENTPD1):c.896C>T (p.Thr299Ile)	ENTPD1, ENTPD1-AS1 (T161I +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3023775	NM_001776.6(ENTPD1):c.1327-13C>T	ENTPD1, ENTPD1-AS1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 64	GLikely benign
Select item 3003066	NM_001776.6(ENTPD1):c.1075-16C>T	ENTPD1-AS1, ENTPD1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 64	GLikely benign
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 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 2972078	NM_001776.6(ENTPD1):c.1185G>A (p.Glu395=)	ENTPD1, ENTPD1-AS1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 64	GLikely benign
Select item 2919078	NM_001776.6(ENTPD1):c.1326+16G>T	ENTPD1, ENTPD1-AS1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 64	GLikely benign
Select item 2909891	NM_001776.6(ENTPD1):c.1203C>T (p.Tyr401=)	ENTPD1, ENTPD1-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2864648	NM_001776.6(ENTPD1):c.1449A>G (p.Leu483=)	ENTPD1, ENTPD1-AS1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 64	GLikely benign
Select item 2854376	NM_001776.6(ENTPD1):c.1326+9G>A	ENTPD1, ENTPD1-AS1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 64	GLikely benign
Select item 2851889	NM_001776.6(ENTPD1):c.876C>T (p.Asn292=)	ENTPD1, ENTPD1-AS1	Single nucleotide variant (synonymous variant +1 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 2784423	NM_001776.6(ENTPD1):c.861T>A (p.Tyr287Ter)	ENTPD1, ENTPD1-AS1 (Y287* +4 more)	Single nucleotide variant (nonsense +1 more)	Hereditary spastic paraplegia 64	GPathogenic
Select item 2752045	NM_001776.6(ENTPD1):c.1227G>A (p.Leu409=)	ENTPD1, ENTPD1-AS1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 64	GLikely benign
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 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 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 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	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 2661919	NM_001776.6(ENTPD1):c.1396C>T (p.Gln466Ter)	ENTPD1, ENTPD1-AS1 (Q328* +5 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2640720	NM_001776.6(ENTPD1):c.1422C>T (p.His474=)	ENTPD1, ENTPD1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2600303	NM_001776.6(ENTPD1):c.1013G>T (p.Cys338Phe)	ENTPD1, ENTPD1-AS1 (C297F +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2576127	NM_001098175.2(ENTPD1):c.37+15668T>G	ENTPD1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	PIK3AP1, SVIL +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	RRP12, USP54 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
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 2498467	NM_001098175.2(ENTPD1):c.33G>A (p.Gln11=)	ENTPD1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
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 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 2446762	GRCh37/hg19 10q23.32-24.1(chr10:93281410-97596360)x1	ACSM6, ALDH18A1 +33 more	Copy number loss	See cases	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 2443792	NM_001776.6(ENTPD1):c.1109T>A (p.Leu370Ter)	ENTPD1, ENTPD1-AS1 (L370* +5 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 64	GPathogenic
Select item 2426202	NC_000010.10:g.(?_97442388)_(97516032_?)dup	ENTPD1, TCTN3	Duplication	Joubert syndrome 18 +1 more	GUncertain significance
Select item 2409839	NM_001776.6(ENTPD1):c.146A>G (p.Tyr49Cys)	ENTPD1, ENTPD1-AS1 (Y49C +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2365362	NM_001776.6(ENTPD1):c.950A>G (p.Gln317Arg)	ENTPD1, ENTPD1-AS1 (Q276R +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315420	NM_001776.6(ENTPD1):c.706G>T (p.Ala236Ser)	ENTPD1, ENTPD1-AS1 (A243S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305548	NM_001776.6(ENTPD1):c.29A>C (p.Lys10Thr)	ENTPD1, ENTPD1-AS1 (K10T +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2271031	NM_001776.6(ENTPD1):c.64G>T (p.Gly22Cys)	ENTPD1, ENTPD1-AS1 (G22C +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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 2257944	NM_001776.6(ENTPD1):c.742G>A (p.Val248Ile)	ENTPD1, ENTPD1-AS1 (V110I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2194650	NM_001776.6(ENTPD1):c.808A>G (p.Ile270Val)	ENTPD1, ENTPD1-AS1 (I162V +4 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 64	GUncertain significance
Select item 2183633	NM_001776.6(ENTPD1):c.1362C>T (p.Tyr454=)	ENTPD1, ENTPD1-AS1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 64	GLikely benign
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 2162468	NM_001776.6(ENTPD1):c.1327-8G>C	ENTPD1, ENTPD1-AS1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 64	GUncertain significance
Select item 2162460	NM_001776.6(ENTPD1):c.1344C>T (p.Ala448=)	ENTPD1-AS1, ENTPD1	Single nucleotide variant (synonymous variant +1 more)	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 2155352	NM_001776.6(ENTPD1):c.1074+15T>C	ENTPD1, ENTPD1-AS1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 64	GLikely benign
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 2150484	NM_001776.6(ENTPD1):c.740A>G (p.Asn247Ser)	ENTPD1, ENTPD1-AS1 (N139S +4 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 64	GUncertain significance
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 2143184	NM_001776.6(ENTPD1):c.1503G>A (p.Lys501=)	ENTPD1, ENTPD1-AS1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 64	GLikely benign
Select item 2129367	NM_001776.6(ENTPD1):c.1020C>G (p.Tyr340Ter)	ENTPD1, ENTPD1-AS1 (Y202* +5 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 64	GPathogenic
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 2086341	NM_001776.6(ENTPD1):c.718C>T (p.Arg240Cys)	ENTPD1, ENTPD1-AS1 (R240C +4 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 64	GUncertain significance
Select item 2085110	NM_001776.6(ENTPD1):c.871G>A (p.Val291Met)	ENTPD1, ENTPD1-AS1 (V291M +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 64	GUncertain significance
Select item 2080448	NM_001776.6(ENTPD1):c.1430A>G (p.Tyr477Cys)	ENTPD1, ENTPD1-AS1 (Y477C +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 64	GUncertain significance
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 2063849	NM_001776.6(ENTPD1):c.1352C>A (p.Thr451Asn)	ENTPD1-AS1, ENTPD1 (T313N +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 64	GUncertain significance
Select item 2054425	NM_001776.6(ENTPD1):c.978T>C (p.His326=)	ENTPD1, ENTPD1-AS1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 64	GLikely benign
Select item 2048993	NM_001776.6(ENTPD1):c.979C>G (p.Gln327Glu)	ENTPD1, ENTPD1-AS1 (Q189E +5 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 64	GUncertain significance
Select item 2048286	NM_001776.6(ENTPD1):c.915T>C (p.Phe305=)	ENTPD1, ENTPD1-AS1	Single nucleotide variant (synonymous variant +1 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 2044133	NM_001776.6(ENTPD1):c.926T>C (p.Leu309Pro)	ENTPD1, ENTPD1-AS1 (L201P +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 64	GUncertain significance
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 +1 more	GUncertain significance
Select item 2042078	NM_001776.6(ENTPD1):c.1139A>G (p.Glu380Gly)	ENTPD1, ENTPD1-AS1 (E272G +5 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 64 +1 more	GUncertain significance
Select item 2042077	NM_001776.6(ENTPD1):c.1086T>C (p.Ala362=)	ENTPD1, ENTPD1-AS1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 64	GLikely benign
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 2041672	NM_001776.6(ENTPD1):c.1455C>T (p.Ser485=)	ENTPD1, ENTPD1-AS1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 64	GLikely benign
Select item 2038565	NM_001776.6(ENTPD1):c.1197A>G (p.Thr399=)	ENTPD1, ENTPD1-AS1	Single nucleotide variant (synonymous 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 1989569	NM_001776.6(ENTPD1):c.690C>T (p.Ile230=)	ENTPD1, ENTPD1-AS1	Single nucleotide variant (synonymous 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 1959667	NM_001776.6(ENTPD1):c.1296_1301del (p.Asp432_Trp434delinsGlu)	ENTPD1, ENTPD1-AS1	Deletion (inframe_indel)	Hereditary spastic paraplegia 64	GUncertain significance
Select item 1956673	NM_001776.6(ENTPD1):c.1037A>G (p.Asn346Ser)	ENTPD1, ENTPD1-AS1 (N208S +5 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 64	GUncertain significance
Select item 1945066	NM_001776.6(ENTPD1):c.1326+14C>A	ENTPD1, ENTPD1-AS1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 64	GLikely benign
Select item 1943954	NM_001776.6(ENTPD1):c.1326+12del	ENTPD1, ENTPD1-AS1	Deletion (intron variant)	Hereditary spastic paraplegia 64	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 1926281	NM_001776.6(ENTPD1):c.858A>G (p.Gly286=)	ENTPD1, ENTPD1-AS1	Single nucleotide variant (synonymous variant +1 more)	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)	Hereditary spastic paraplegia 64 +1 more	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 1800605	NM_001776.6(ENTPD1):c.413+210dup	ENTPD1, ENTPD1-AS1	Duplication (intron variant)	not provided	GLikely benign
Select item 1714543	NM_001776.6(ENTPD1):c.1351A>C (p.Thr451Pro)	ENTPD1, ENTPD1-AS1 (T313P +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 64	GUncertain significance
Select item 1668009	NM_001776.6(ENTPD1):c.1251C>T (p.Thr417=)	ENTPD1, ENTPD1-AS1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 64	GLikely benign
Select item 1667194	NM_001776.6(ENTPD1):c.1189-17C>T	ENTPD1, ENTPD1-AS1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 64	GLikely benign
Select item 1654089	NM_001776.6(ENTPD1):c.24C>T (p.Asn8=)	ENTPD1, ENTPD1-AS1	Single nucleotide variant (synonymous variant +2 more)	ENTPD1-related disorder +1 more	GLikely benign
Select item 1638180	NM_001776.6(ENTPD1):c.1146G>T (p.Val382=)	ENTPD1, ENTPD1-AS1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 64	GLikely benign
Select item 1621638	NM_001776.6(ENTPD1):c.814-6A>G	ENTPD1, ENTPD1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 64	GLikely benign
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 1601921	NM_001776.6(ENTPD1):c.262+17G>A	ENTPD1, ENTPD1-AS1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 64	GLikely benign

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