ClinVar for MedGen (Select 854816) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064786	NM_001351169.2(NT5C2):c.176-2A>G	NT5C2	Single nucleotide variant (splice acceptor variant)	Hereditary spastic paraplegia 45	GLikely pathogenic
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 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 3023134	NM_001351169.2(NT5C2):c.102-4A>G	NT5C2	Single nucleotide variant (intron 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 3009034	NM_001351169.2(NT5C2):c.772-9T>A	NT5C2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 45	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 2916352	NM_001351169.2(NT5C2):c.634-13dup	NT5C2	Duplication (intron variant)	Hereditary spastic paraplegia 45	GBenign
Select item 2915271	NM_001351169.2(NT5C2):c.369T>C (p.His123=)	NT5C2	Single nucleotide variant (synonymous variant +1 more)	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 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 2882205	NM_001351169.2(NT5C2):c.813+14C>T	NT5C2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 45	GLikely benign
Select item 2850215	NM_001351169.2(NT5C2):c.390-15A>C	NT5C2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 45	GLikely benign
Select item 2848460	NM_001351169.2(NT5C2):c.537C>G (p.Thr179=)	NT5C2	Single nucleotide variant (synonymous variant +1 more)	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 2804716	NM_001351169.2(NT5C2):c.618C>T (p.Asp206=)	NT5C2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 45	GLikely benign
Select item 2802102	NM_001351169.2(NT5C2):c.438T>C (p.Asp146=)	NT5C2	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia 45	GLikely benign
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 2753224	NM_001351169.2(NT5C2):c.1160-20T>C	NT5C2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 45	GLikely benign
Select item 2753003	NM_001351169.2(NT5C2):c.772-5del	NT5C2	Deletion (intron variant)	Hereditary spastic paraplegia 45	GBenign
Select item 2752922	NM_001351169.2(NT5C2):c.634-6C>T	NT5C2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 45	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 2731406	NM_001351169.2(NT5C2):c.765T>C (p.Tyr255=)	NT5C2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 45	GLikely benign
Select item 2729444	NM_001351169.2(NT5C2):c.226del (p.Arg76fs)	NT5C2 (R76fs +2 more)	Deletion (frameshift variant +1 more)	Hereditary spastic paraplegia 45	GPathogenic
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 2722104	NM_001351169.2(NT5C2):c.1160-4C>T	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 2699637	NM_001351169.2(NT5C2):c.1125C>T (p.Leu375=)	NT5C2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 45	GLikely benign
Select item 2420110	NM_001351169.2(NT5C2):c.219T>C (p.Thr73=)	NT5C2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 45	GLikely benign
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 2418566	NM_001351169.2(NT5C2):c.328T>C (p.Leu110=)	NT5C2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 45	GLikely benign
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 2417094	NM_001351169.2(NT5C2):c.634-19T>C	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 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 2198265	NM_001351169.2(NT5C2):c.1273-9_1273-8del	NT5C2	Deletion (intron 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 2186004	NM_001351169.2(NT5C2):c.616G>C (p.Asp206His)	NT5C2 (D15H +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 45	GUncertain significance
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 2171863	NM_001351169.2(NT5C2):c.205G>A (p.Gly69Ser)	NT5C2 (G38S +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 45	GUncertain significance
Select item 2168208	NM_001351169.2(NT5C2):c.176-15C>T	NT5C2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 45	GLikely benign
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 2159148	NM_001351169.2(NT5C2):c.227G>C (p.Arg76Thr)	NT5C2 (R45T +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 45	GUncertain significance
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 2157224	NM_001351169.2(NT5C2):c.223G>C (p.Glu75Gln)	NT5C2 (E44Q +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 45	GUncertain significance
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 2147372	NM_001351169.2(NT5C2):c.595C>T (p.Gln199Ter)	NT5C2 (Q168* +4 more)	Single nucleotide variant (nonsense +1 more)	Hereditary spastic paraplegia 45	GPathogenic
Select item 2144935	NM_001351169.2(NT5C2):c.176-19A>G	NT5C2	Single nucleotide variant (intron variant)	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 2123555	NM_001351169.2(NT5C2):c.481+11T>C	NT5C2	Single nucleotide variant (intron variant)	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 2096604	NM_001351169.2(NT5C2):c.83G>A (p.Arg28His)	NT5C2 (R28H)	Single nucleotide variant (missense variant +1 more)	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 2079764	NM_001351169.2(NT5C2):c.813+6G>A	NT5C2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 45	GUncertain significance
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 2065823	NM_001351169.2(NT5C2):c.277T>C (p.Ser93Pro)	NT5C2 (S62P +2 more)	Single nucleotide variant (missense variant +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 2057290	NM_001351169.2(NT5C2):c.175+19T>C	NT5C2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 45	GLikely benign
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 2049694	NM_001351169.2(NT5C2):c.1212-13_1212-9del	NT5C2	Deletion (intron variant)	Hereditary spastic paraplegia 45	GLikely benign
Select item 2048976	NM_001351169.2(NT5C2):c.498C>T (p.Ala166=)	NT5C2	Single nucleotide variant (synonymous variant +1 more)	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 2047334	NM_001351169.2(NT5C2):c.988+5G>C	NT5C2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 45	GUncertain significance
Select item 2042638	NM_001351169.2(NT5C2):c.339T>C (p.Asp113=)	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 2029313	NM_001351169.2(NT5C2):c.1212-13_1212-12del	NT5C2	Deletion (intron variant)	Hereditary spastic paraplegia 45	GLikely benign
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 2020856	NM_001351169.2(NT5C2):c.961C>T (p.Leu321=)	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 2015339	NM_001351169.2(NT5C2):c.1149T>G (p.Thr383=)	NT5C2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 45	GLikely benign
Select item 2009302	NM_001351169.2(NT5C2):c.675T>G (p.Tyr225Ter)	NT5C2 (Y225* +4 more)	Single nucleotide variant (nonsense +1 more)	Hereditary spastic paraplegia 45	GPathogenic
Select item 1989135	NM_001351169.2(NT5C2):c.634-25_634-19dup	NT5C2	Duplication (intron 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 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 1971682	NM_001351169.2(NT5C2):c.325C>G (p.Leu109Val)	NT5C2 (L78V +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 45	GUncertain significance
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 1957748	NM_001351169.2(NT5C2):c.634-16T>C	NT5C2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 45	GLikely benign
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 1952197	NM_001351169.2(NT5C2):c.481+6T>G	NT5C2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 45	GUncertain significance
Select item 1952196	NM_001351169.2(NT5C2):c.677T>C (p.Val226Ala)	NT5C2 (V197A +4 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 1947227	NM_001351169.2(NT5C2):c.251A>G (p.Gln84Arg)	NT5C2 (Q55R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1947224	NM_001351169.2(NT5C2):c.264C>T (p.Ser88=)	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 1940048	NM_001351169.2(NT5C2):c.293+13G>T	NT5C2	Single nucleotide variant (intron 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 1927613	NM_001351169.2(NT5C2):c.289A>G (p.Thr97Ala)	NT5C2 (T97A +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 45	GUncertain significance
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 1910722	NM_001351169.2(NT5C2):c.1212-21_1212-19dup	NT5C2	Duplication (intron variant)	Hereditary spastic paraplegia 45	GLikely benign
Select item 1895593	NM_001351169.2(NT5C2):c.486C>G (p.Thr162=)	NT5C2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 45	GLikely benign
Select item 1709433	NM_001351169.2(NT5C2):c.771+1G>A	NT5C2	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 45	GLikely pathogenic
Select item 1705923	NM_001351169.2(NT5C2):c.629del (p.Tyr210fs)	NT5C2 (Y179fs +4 more)	Deletion (frameshift variant +1 more)	Hereditary spastic paraplegia 45	GPathogenic
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 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 1654436	NM_001351169.2(NT5C2):c.101+16A>G	NT5C2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 45	GLikely benign
Select item 1603201	NM_001351169.2(NT5C2):c.481+8C>T	NT5C2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 45	GLikely benign
Select item 1595102	NM_001351169.2(NT5C2):c.201C>T (p.Ser67=)	NT5C2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 45	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 1541707	NM_001351169.2(NT5C2):c.1273-7_1273-4dup	NT5C2	Duplication (intron variant)	Hereditary spastic paraplegia 45	GLikely benign
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

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