NT5C2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	LOC126861081, LOC126861082 +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	ABLIM1, ABRAXAS2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 58780	GRCh38/hg38 10q24.32-24.33(chr10:102243341-103929730)x1	ACTR1A, ARL3 +121 more	Copy number loss	See cases	GPathogenic
Select item 3572	NC_000010.11:g.(102444036_?)_(?_104726221)del	ACTR1A, ARL3 +135 more	Deletion	Desmoplastic/nodular medulloblastoma	GPathogenic
Select item 149001	GRCh38/hg38 10q24.32-24.33(chr10:102710547-103110626)x1	ARL3, AS3MT +20 more	Copy number loss	See cases	GUncertain significance
Select item 155304	GRCh38/hg38 10q24.32-25.3(chr10:102732173-114085105)x1	ACSL5, ADD3 +318 more	Copy number loss	See cases	GPathogenic
Select item 1168446	NM_001351169.2(NT5C2):c.*313C>G	CNNM2, NT5C2	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia +2 more	GBenign
Select item 1178021	NM_001351169.2(NT5C2):c.*285T>G	CNNM2, NT5C2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 642627	NC_000010.11:g.(?_103089662)_(103174968_?)del	CNNM2, LOC130004629 +1 more	Deletion	Hereditary spastic paraplegia 45	GPathogenic
Select item 784766	NM_001351169.2(NT5C2):c.1685A>G (p.Ter562=)	CNNM2, NT5C2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 45	GLikely benign
Select item 1946779	NM_001351169.2(NT5C2):c.1678GAA[3] (p.Glu561_Ter562insGlu)	CNNM2, NT5C2	Microsatellite (inframe_insertion +1 more)	Hereditary spastic paraplegia 45	GUncertain significance
Select item 2062772	NM_001351169.2(NT5C2):c.1665GGA[7] (p.Glu561_Ter562insGluGlu)	CNNM2, NT5C2	Microsatellite (inframe_insertion +1 more)	Hereditary spastic paraplegia 45	GUncertain significance
Select item 1371578	NM_017649.5(CNNM2):c.*12501CTC[6]	CNNM2, NT5C2	Microsatellite (inframe_insertion +1 more)	Hereditary spastic paraplegia 45	GUncertain significance
Select item 1025816	NM_001351169.2(NT5C2):c.1665GGA[4] (p.Glu561del)	CNNM2, NT5C2 (E323del +5 more)	Microsatellite (inframe_deletion +1 more)	Hereditary spastic paraplegia 45 +1 more	GConflicting classifications of pathogenicity
Select item 474945	NM_001351169.2(NT5C2):c.1665GGA[3] (p.Glu560_Glu561del)	NT5C2, CNNM2	Microsatellite (inframe_deletion +1 more)	Hereditary spastic paraplegia 45 +1 more	GUncertain significance
Select item 1089459	NM_001351169.2(NT5C2):c.1674G>A (p.Glu558=)	CNNM2, NT5C2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 45	GLikely benign
Select item 474944	NM_001351169.2(NT5C2):c.1671G>A (p.Glu557=)	CNNM2, NT5C2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2975359	NM_001351169.2(NT5C2):c.1668G>A (p.Glu556=)	CNNM2, NT5C2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 45	GLikely benign
Select item 541768	NM_001351169.2(NT5C2):c.1662_1667del (p.Glu560_Glu561del)	CNNM2, NT5C2	Deletion (inframe_deletion +1 more)	Hereditary spastic paraplegia 45	GUncertain significance
Select item 541766	NM_001351169.2(NT5C2):c.1665G>T (p.Glu555Asp)	CNNM2, NT5C2 (E555D +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 45	GUncertain significance
Select item 959340	NM_001351169.2(NT5C2):c.1662_1664del (p.Glu561del)	CNNM2, NT5C2 (E370del +5 more)	Deletion (inframe_deletion +1 more)	Hereditary spastic paraplegia 45	GUncertain significance
Select item 474943	NM_001351169.2(NT5C2):c.1662A>G (p.Glu554=)	CNNM2, NT5C2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 45	GLikely benign
Select item 380852	NM_001351169.2(NT5C2):c.1647C>T (p.Asp549=)	CNNM2, NT5C2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 45 +1 more	GBenign
Select item 724043	NM_001351169.2(NT5C2):c.1644T>C (p.His548=)	CNNM2, NT5C2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 45	GLikely benign
Select item 2099173	NM_001351169.2(NT5C2):c.1626G>A (p.Gln542=)	CNNM2, NT5C2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 45	GLikely benign
Select item 1685993	NM_001351169.2(NT5C2):c.1624del (p.Gln542fs)	CNNM2, NT5C2 (Q304fs +5 more)	Deletion (frameshift variant +1 more)	Hereditary spastic paraplegia 45	GPathogenic
Select item 2201598	NM_001351169.2(NT5C2):c.1619C>T (p.Ala540Val)	CNNM2, NT5C2 (A302V +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 45	GUncertain significance
Select item 1957036	NM_001351169.2(NT5C2):c.1618G>A (p.Ala540Thr)	CNNM2, NT5C2 (A509T +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 45	GUncertain significance
Select item 1947791	NM_001351169.2(NT5C2):c.1582A>G (p.Ile528Val)	CNNM2, NT5C2 (I499V +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 45	GUncertain significance
Select item 2057285	NM_001351169.2(NT5C2):c.1572G>A (p.Leu524=)	CNNM2, NT5C2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 45	GLikely benign
Select item 1344442	NM_001351169.2(NT5C2):c.1564C>T (p.His522Tyr)	CNNM2, NT5C2 (H284Y +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia +1 more	GUncertain significance
Select item 1344441	NM_001351169.2(NT5C2):c.1562G>A (p.Arg521Gln)	CNNM2, NT5C2 (R283Q +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 2399338	NM_001351169.2(NT5C2):c.1559A>G (p.Lys520Arg)	CNNM2, NT5C2 (K329R +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3053974	NM_001351169.2(NT5C2):c.1536G>A (p.Val512=)	CNNM2, NT5C2	Single nucleotide variant (synonymous variant +1 more)	NT5C2-related condition	GLikely benign
Select item 2039244	NM_001351169.2(NT5C2):c.1529C>T (p.Thr510Ile)	CNNM2, NT5C2 (T272I +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 45	GUncertain significance
Select item 864795	NM_001351169.2(NT5C2):c.1528A>C (p.Thr510Pro)	CNNM2, NT5C2 (T479P +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1127498	NM_001351169.2(NT5C2):c.1482C>T (p.His494=)	CNNM2, NT5C2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 45	GLikely benign
Select item 2902214	NM_001351169.2(NT5C2):c.1473G>A (p.Glu491=)	CNNM2, NT5C2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 45	GLikely benign
Select item 658793	NM_001351169.2(NT5C2):c.1467G>A (p.Thr489=)	CNNM2, NT5C2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 45	GLikely benign
Select item 1083507	NM_001351169.2(NT5C2):c.1450-8C>G	CNNM2, NT5C2	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spastic paraplegia 45	GLikely benign
Select item 2130092	NM_001351169.2(NT5C2):c.1450-16G>C	NT5C2, CNNM2	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spastic paraplegia 45	GUncertain significance
Select item 2418756	NM_001351169.2(NT5C2):c.1449+18T>A	NT5C2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 45	GLikely benign
Select item 2154373	NM_001351169.2(NT5C2):c.1449+13T>A	NT5C2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 45	GLikely benign
Select item 1048080	NM_001351169.2(NT5C2):c.1449+2T>C	NT5C2	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder +1 more	GPathogenic/Likely pathogenic
Select item 474942	NM_001351169.2(NT5C2):c.1413C>T (p.Tyr471=)	NT5C2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 45	GLikely benign
Select item 772180	NM_001351169.2(NT5C2):c.1407G>A (p.Leu469=)	NT5C2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 45	GLikely benign
Select item 1685994	NM_001351169.2(NT5C2):c.1403T>C (p.Leu468Pro)	NT5C2 (L230P +5 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 45	GPathogenic
Select item 733077	NM_001351169.2(NT5C2):c.1389A>G (p.Ala463=)	NT5C2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1474648	NM_001351169.2(NT5C2):c.1385C>T (p.Ala462Val)	NT5C2 (A271V +5 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 45	GUncertain significance
Select item 1309720	NM_001351169.2(NT5C2):c.1377C>A (p.Asp459Glu)	NT5C2 (D221E +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 952332	NM_001351169.2(NT5C2):c.1371T>A (p.Tyr457Ter)	NT5C2 (Y266* +5 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 45	GPathogenic
Select item 2417885	NM_001351169.2(NT5C2):c.1367G>A (p.Arg456His)	NT5C2 (R218H +5 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 45	GUncertain significance
Select item 1485214	NM_001351169.2(NT5C2):c.1359A>C (p.Gln453His)	NT5C2 (Q215H +5 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 45	GUncertain significance
Select item 778472	NM_001351169.2(NT5C2):c.1353C>T (p.Ala451=)	NT5C2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 45	GLikely benign
Select item 1918682	NM_001351169.2(NT5C2):c.1323T>C (p.Phe441=)	NT5C2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 45	GLikely benign
Select item 845619	NM_001351169.2(NT5C2):c.1289T>C (p.Met430Thr)	NT5C2 (M399T +5 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 45 +1 more	GUncertain significance
Select item 1541707	NM_001351169.2(NT5C2):c.1273-7_1273-4dup	NT5C2	Duplication (intron variant)	Hereditary spastic paraplegia 45	GLikely benign
Select item 2723413	NM_001351169.2(NT5C2):c.1273-4T>C	NT5C2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 45	GLikely benign
Select item 568880	NM_001351169.2(NT5C2):c.1273-7_1273-4del	NT5C2	Deletion (intron variant)	Hereditary spastic paraplegia 45	GUncertain significance
Select item 2198265	NM_001351169.2(NT5C2):c.1273-9_1273-8del	NT5C2	Deletion (intron variant)	Hereditary spastic paraplegia 45	GLikely benign
Select item 1227615	NM_001351169.2(NT5C2):c.1273-24A>C	NT5C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293623	NM_001351169.2(NT5C2):c.1273-25G>A	NT5C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237292	NM_001351169.2(NT5C2):c.1272+73T>G	NT5C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295929	NM_001351169.2(NT5C2):c.1272+68_1272+71del	NT5C2	Deletion (intron variant)	not provided	GBenign
Select item 1295358	NM_001351169.2(NT5C2):c.1272+61C>T	NT5C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 579655	NM_001351169.2(NT5C2):c.1272+1G>C	NT5C2	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 45	GLikely pathogenic
Select item 2513407	NM_001351169.2(NT5C2):c.1264C>T (p.Arg422Cys)	NT5C2 (R391C +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 856351	NM_001351169.2(NT5C2):c.1259A>G (p.Gln420Arg)	NT5C2 (Q182R +5 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 45	GUncertain significance
Select item 2082231	NM_001351169.2(NT5C2):c.1236G>A (p.Glu412=)	NT5C2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 45	GLikely benign
Select item 100905	NM_001351169.2(NT5C2):c.1225del (p.Ser409fs)	NT5C2 (S378fs +5 more)	Deletion (frameshift variant)	Hereditary spastic paraplegia 45	GPathogenic
Select item 2194970	NM_001351169.2(NT5C2):c.1212-8_1212-6dup	NT5C2	Duplication (intron variant)	Hereditary spastic paraplegia 45	GLikely benign
Select item 2049694	NM_001351169.2(NT5C2):c.1212-13_1212-9del	NT5C2	Deletion (intron variant)	Hereditary spastic paraplegia 45 +1 more	GLikely benign
Select item 2029313	NM_001351169.2(NT5C2):c.1212-13_1212-12del	NT5C2	Deletion (intron variant)	Hereditary spastic paraplegia 45	GLikely benign
Select item 1910722	NM_001351169.2(NT5C2):c.1212-21_1212-19dup	NT5C2	Duplication (intron variant)	Hereditary spastic paraplegia 45	GLikely benign
Select item 1295697	NM_001351169.2(NT5C2):c.1212-82T>C	NT5C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217475	NM_001351169.2(NT5C2):c.1212-142C>T	NT5C2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295356	NM_001351169.2(NT5C2):c.1211+202dup	NT5C2	Duplication (intron variant)	not provided	GBenign
Select item 1214241	NM_001351169.2(NT5C2):c.1211+197G>A	NT5C2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 667762	NM_001351169.2(NT5C2):c.1211+36C>T	NT5C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 380885	NM_001351169.2(NT5C2):c.1211+20C>A	NT5C2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 45 +1 more	GBenign
Select item 2025393	NM_001351169.2(NT5C2):c.1211+8T>A	NT5C2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 45	GLikely benign
Select item 474941	NM_001351169.2(NT5C2):c.1172A>G (p.Glu391Gly)	NT5C2 (E391G +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2722104	NM_001351169.2(NT5C2):c.1160-4C>T	NT5C2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 45	GLikely benign
Select item 2048975	NM_001351169.2(NT5C2):c.1160-18C>T	NT5C2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 45	GLikely benign
Select item 2753224	NM_001351169.2(NT5C2):c.1160-20T>C	NT5C2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 45	GLikely benign
Select item 667744	NM_001351169.2(NT5C2):c.1160-24C>A	NT5C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232564	NM_001351169.2(NT5C2):c.1160-28C>T	NT5C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 667742	NM_001351169.2(NT5C2):c.1159+248C>T	NT5C2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 667740	NM_001351169.2(NT5C2):c.1159+232_1159+236dup	NT5C2	Duplication (intron variant)	not provided	GBenign
Select item 1189739	NM_001351169.2(NT5C2):c.1159+137del	NT5C2	Deletion (intron variant)	not provided	GLikely benign
Select item 2178394	NM_001351169.2(NT5C2):c.1159+16A>G	NT5C2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 45	GLikely benign
Select item 3024463	NM_001351169.2(NT5C2):c.1159+2T>G	NT5C2	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 45	GPathogenic
Select item 2413847	NM_001351169.2(NT5C2):c.1153_1154del (p.Lys385fs)	NT5C2 (K147fs +5 more)	Deletion (frameshift variant)	Hereditary spastic paraplegia 45	GPathogenic
Select item 2015339	NM_001351169.2(NT5C2):c.1149T>G (p.Thr383=)	NT5C2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 45	GLikely benign
Select item 643613	NM_001351169.2(NT5C2):c.1139A>G (p.His380Arg)	NT5C2 (H380R +5 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 45	GUncertain significance
Select item 2699637	NM_001351169.2(NT5C2):c.1125C>T (p.Leu375=)	NT5C2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 45	GLikely benign
Select item 1981323	NM_001351169.2(NT5C2):c.1109del (p.Leu370fs)	NT5C2 (L179fs +5 more)	Deletion (frameshift variant)	Hereditary spastic paraplegia 45	GPathogenic
Select item 3024462	NM_001351169.2(NT5C2):c.1106T>C (p.Phe369Ser)	NT5C2 (F131S +5 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 45	GLikely pathogenic
Select item 834345	NM_001351169.2(NT5C2):c.1099C>T (p.Arg367Ter)	NT5C2 (R176* +5 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 45	GPathogenic/Likely pathogenic

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