"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "NT5C2"[ - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1168446	NM_001351169.2(NT5C2):c.*313C>G	CNNM2, NT5C2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
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_001351169.2(NT5C2):c.1665GGA[6] (p.Glu561_Ter562insGlu)	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_indel +2 more)	Hereditary spastic paraplegia 45 +1 more	GConflicting classifications of pathogenicity
Select item 474945	NM_001351169.2(NT5C2):c.1665GGA[3] (p.Glu560_Glu561del)	CNNM2, NT5C2	Microsatellite (inframe_indel +2 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=)	NT5C2, CNNM2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 45 +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_indel +2 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 +2 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)	not provided +2 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 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 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)	Hereditary spastic paraplegia 45 +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	CNNM2, NT5C2	Single nucleotide variant (intron 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 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 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 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 579655	NM_001351169.2(NT5C2):c.1272+1G>C	NT5C2	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 45	GLikely pathogenic
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 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	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 380885	NM_001351169.2(NT5C2):c.1211+20C>A	NT5C2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 45 +2 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)	Hereditary spastic paraplegia 45 +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 2178394	NM_001351169.2(NT5C2):c.1159+16A>G	NT5C2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 45	GLikely benign
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 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
Select item 657035	NM_001351169.2(NT5C2):c.1090C>G (p.Gln364Glu)	NT5C2 (Q173E +5 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 45	GUncertain significance
Select item 706887	NM_001351169.2(NT5C2):c.1089G>A (p.Arg363=)	NT5C2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 45 +1 more	GLikely benign
Select item 706098	NM_001351169.2(NT5C2):c.1077A>G (p.Lys359=)	NT5C2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 45 +1 more	GBenign
Select item 788075	NM_001351169.2(NT5C2):c.1056C>T (p.His352=)	NT5C2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 45 +1 more	GLikely benign
Select item 1555050	NM_001351169.2(NT5C2):c.1044T>C (p.Tyr348=)	NT5C2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 45	GLikely benign
Select item 2074074	NM_001351169.2(NT5C2):c.1041G>A (p.Leu347=)	NT5C2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 45	GLikely benign
Select item 1109605	NM_001351169.2(NT5C2):c.1039T>C (p.Leu347=)	NT5C2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 45	GLikely benign
Select item 2831533	NM_001351169.2(NT5C2):c.1002G>T (p.Thr334=)	NT5C2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 45	GLikely benign
Select item 1932434	NM_001351169.2(NT5C2):c.989-13T>G	NT5C2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 45	GUncertain significance
Select item 2047334	NM_001351169.2(NT5C2):c.988+5G>C	NT5C2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 45	GUncertain significance
Select item 576834	NM_001351169.2(NT5C2):c.982T>C (p.Ser328Pro)	NT5C2 (S328P +5 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 45	GUncertain significance
Select item 1445293	NM_001351169.2(NT5C2):c.976G>A (p.Val326Ile)	NT5C2 (V297I +5 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 45	GUncertain significance
Select item 763503	NM_001351169.2(NT5C2):c.975C>T (p.Ile325=)	NT5C2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2157599	NM_001351169.2(NT5C2):c.963A>G (p.Leu321=)	NT5C2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 45	GLikely benign
Select item 2020856	NM_001351169.2(NT5C2):c.961C>T (p.Leu321=)	NT5C2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 45	GLikely benign
Select item 703914	NM_001351169.2(NT5C2):c.942T>C (p.Ile314=)	NT5C2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 45	GLikely benign
Select item 1223236	NM_001351169.2(NT5C2):c.921+18T>G	NT5C2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1961732	NM_001351169.2(NT5C2):c.871C>T (p.Arg291Trp)	NT5C2 (R291W +5 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 45	GUncertain significance
Select item 2763136	NM_001351169.2(NT5C2):c.861G>A (p.Leu287=)	NT5C2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 45	GLikely benign
Select item 764637	NM_001351169.2(NT5C2):c.849T>C (p.Phe283=)	NT5C2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2732899	NM_001351169.2(NT5C2):c.819G>C (p.Gly273=)	NT5C2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 45	GLikely benign
Select item 2910514	NM_001351169.2(NT5C2):c.814-10C>T	NT5C2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 45	GLikely benign
Select item 1477054	NM_001351169.2(NT5C2):c.813+19T>C	NT5C2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 45	GLikely benign
Select item 2882205	NM_001351169.2(NT5C2):c.813+14C>T	NT5C2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 45	GLikely benign
Select item 2079764	NM_001351169.2(NT5C2):c.813+6G>A	NT5C2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 45	GUncertain significance
Select item 722497	NM_001351169.2(NT5C2):c.810C>A (p.Pro270=)	NT5C2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 45	GLikely benign
Select item 3021995	NM_001351169.2(NT5C2):c.781A>T (p.Thr261Ser)	NT5C2 (T232S +5 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 45	GUncertain significance
Select item 2753003	NM_001351169.2(NT5C2):c.772-5del	NT5C2	Deletion (intron variant)	Hereditary spastic paraplegia 45	GBenign
Select item 3009034	NM_001351169.2(NT5C2):c.772-9T>A	NT5C2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 45	GLikely benign
Select item 2720756	NM_001351169.2(NT5C2):c.772-20T>C	NT5C2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 45	GLikely benign
Select item 2731406	NM_001351169.2(NT5C2):c.765T>C (p.Tyr255=)	NT5C2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 45	GLikely benign
Select item 2016022	NM_001351169.2(NT5C2):c.761A>G (p.Lys254Arg)	NT5C2 (K225R +5 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 45	GUncertain significance
Select item 1979646	NM_001351169.2(NT5C2):c.724G>T (p.Val242Leu)	NT5C2 (V211L +5 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 45	GUncertain significance
Select item 2159182	NM_001351169.2(NT5C2):c.721G>C (p.Glu241Gln)	NT5C2 (E3Q +5 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 45	GUncertain significance
Select item 806562	NM_001351169.2(NT5C2):c.685G>C (p.Asp229His)	NT5C2 (D38H +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 45 +1 more	GUncertain significance

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