ClinVar for Gene (Select 728558) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3139952	NM_001134375.2(CCNJ):c.94G>A (p.Gly32Ser)	CCNJ, ENTPD1-AS1 (G32S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139951	NM_001134375.2(CCNJ):c.917C>T (p.Ser306Leu)	CCNJ, ENTPD1-AS1 (S295L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139950	NM_001134375.2(CCNJ):c.752A>T (p.Asn251Ile)	CCNJ, ENTPD1-AS1 (N239I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138176	NM_001349008.3(CC2D2B):c.3902T>C (p.Ile1301Thr)	CC2D2B, ENTPD1-AS1 (I265T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138175	NM_001349008.3(CC2D2B):c.3697C>A (p.Gln1233Lys)	CC2D2B, ENTPD1-AS1 (Q197K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138174	NM_001349008.3(CC2D2B):c.3647T>C (p.Val1216Ala)	CC2D2B, ENTPD1-AS1 (V1216A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138173	NM_001349008.3(CC2D2B):c.2972G>T (p.Gly991Val)	CC2D2B, ENTPD1-AS1 (G16V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138172	NM_001349008.3(CC2D2B):c.3536T>C (p.Ile1179Thr)	CC2D2B, ENTPD1-AS1 (I1179T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138171	NM_001349008.3(CC2D2B):c.3523A>G (p.Ile1175Val)	CC2D2B, ENTPD1-AS1 (I139V +1 more)	Single nucleotide variant (missense variant)	not specified	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 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 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 2640723	NM_001349008.3(CC2D2B):c.1992C>T (p.Leu664=)	CC2D2B, ENTPD1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640722	NM_001349008.3(CC2D2B):c.1140G>A (p.Arg380=)	CC2D2B, ENTPD1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640721	NM_001349008.3(CC2D2B):c.265T>C (p.Leu89=)	C10orf131, CC2D2B +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2616348	NM_001349008.3(CC2D2B):c.3925A>T (p.Met1309Leu)	CC2D2B, ENTPD1-AS1 (M273L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606403	NM_001349008.3(CC2D2B):c.3646G>A (p.Val1216Ile)	CC2D2B, ENTPD1-AS1 (V1216I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601402	NM_001349008.3(CC2D2B):c.3779T>G (p.Ile1260Ser)	CC2D2B, ENTPD1-AS1 (I224S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2536002	NM_001349008.3(CC2D2B):c.3686C>G (p.Pro1229Arg)	CC2D2B, ENTPD1-AS1 (P1229R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534895	NM_001349008.3(CC2D2B):c.3602T>C (p.Leu1201Pro)	CC2D2B, ENTPD1-AS1 (L165P +1 more)	Single nucleotide variant (missense variant)	not specified	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 2519420	NM_001134375.2(CCNJ):c.473C>G (p.Ala158Gly)	CCNJ, ENTPD1-AS1 (A158G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517868	NM_001134375.2(CCNJ):c.841C>T (p.Arg281Trp)	CCNJ, ENTPD1-AS1 (R270W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514986	NM_001349008.3(CC2D2B):c.3302G>A (p.Arg1101Gln)	CC2D2B, ENTPD1-AS1 (R1101Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511992	NM_001349008.3(CC2D2B):c.4286A>G (p.Tyr1429Cys)	CC2D2B, ENTPD1-AS1 (Y1429C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511773	NM_001349008.3(CC2D2B):c.4265A>G (p.Asn1422Ser)	CC2D2B, ENTPD1-AS1 (N1422S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491309	NM_001134375.2(CCNJ):c.1016T>C (p.Leu339Pro)	CCNJ, ENTPD1-AS1 (L328P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2466759	NM_001134375.2(CCNJ):c.685C>T (p.Arg229Cys)	CCNJ, ENTPD1-AS1 (R229C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463092	NM_001134375.2(CCNJ):c.996C>G (p.Phe332Leu)	CCNJ, ENTPD1-AS1 (F320L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 2387662	NM_001134375.2(CCNJ):c.653G>A (p.Arg218His)	CCNJ, ENTPD1-AS1 (R206H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381004	NM_001349008.3(CC2D2B):c.411G>C (p.Glu137Asp)	C10orf131, CC2D2B +1 more (E137D +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2371023	NM_001134375.2(CCNJ):c.806A>C (p.Gln269Pro)	CCNJ, ENTPD1-AS1 (Q257P +2 more)	Single nucleotide variant (missense variant)	not specified	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 2333435	NM_001349008.3(CC2D2B):c.3491G>C (p.Gly1164Ala)	CC2D2B, ENTPD1-AS1 (G128A +1 more)	Single nucleotide variant (missense variant)	not specified	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 2300578	NM_001349008.3(CC2D2B):c.3040T>C (p.Ser1014Pro)	CC2D2B, ENTPD1-AS1 (S39P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287807	NM_001349008.3(CC2D2B):c.3433A>T (p.Ile1145Phe)	CC2D2B, ENTPD1-AS1 (I109F +1 more)	Single nucleotide variant (missense variant)	not specified	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 2242475	NM_001134375.2(CCNJ):c.695C>T (p.Ala232Val)	CCNJ, ENTPD1-AS1 (A232V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239221	NM_001134375.2(CCNJ):c.386A>G (p.His129Arg)	CCNJ, ENTPD1-AS1 (H129R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235105	NM_001349008.3(CC2D2B):c.3617C>T (p.Thr1206Met)	CC2D2B, ENTPD1-AS1 (T170M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231875	NM_001134375.2(CCNJ):c.1004G>A (p.Ser335Asn)	CCNJ, ENTPD1-AS1 (S335N +2 more)	Single nucleotide variant (missense variant)	not specified	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

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