Related gene-specific medical variations for Gene (Select 6683) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3256608	NM_014946.4(SPAST):c.985dup (p.Met329fs)	SPAST (M296fs +3 more)	Duplication (frameshift variant)	Hereditary spastic paraplegia 4	Gnot provided
Select item 3247329	NC_000002.11:g.(?_32352275)_(32353547_?)del	SPAST	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 3247328	NC_000002.11:g.(?_32272227)_(32289220_?)del	SPAST	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 3247327	NC_000002.11:g.(?_32351997)_(32379565_?)dup	SPAST	Duplication	Hereditary spastic paraplegia 4	GUncertain significance
Select item 3247325	NC_000002.11:g.(?_32339687)_(32379565_?)dup	SPAST	Duplication	Hereditary spastic paraplegia 4	GUncertain significance
Select item 3247324	NC_000002.11:g.(?_32366953)_(32370096_?)dup	SPAST	Duplication	Hereditary spastic paraplegia 4	GPathogenic
Select item 3247323	NC_000002.11:g.(?_32366953)_(32368504_?)dup	SPAST	Duplication	Hereditary spastic paraplegia 4	GUncertain significance
Select item 3247322	NC_000002.11:g.(?_32361612)_(32367035_?)dup	SPAST	Duplication	Hereditary spastic paraplegia 4	GUncertain significance
Select item 3247321	NC_000002.11:g.(?_32323845)_(32352111_?)del	SPAST	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 3247320	NC_000002.11:g.(?_32366953)_(32372347_?)del	SPAST	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 3247319	NC_000002.11:g.(?_32353457)_(32353568_?)del	SPAST	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 3247318	NC_000002.11:g.(?_32288901)_(32289335_?)del	SPAST	Deletion	Hereditary spastic paraplegia 4	GPathogenic
Select item 2684159	Single allele	SPAST	Deletion	not provided	GPathogenic
Select item 2684156	Single allele	SPAST	Deletion	not provided	GPathogenic
Select item 2684015	NM_014946.4(SPAST):c.517del (p.Arg173fs)	SPAST (R172fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2684014	NM_014946.4(SPAST):c.165C>G (p.Tyr55Ter)	SPAST (Y55*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2684013	NM_014946.4(SPAST):c.1610T>G (p.Leu537Arg)	SPAST (L504R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684012	NM_014946.4(SPAST):c.1579del (p.Ser527fs)	SPAST (S494fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2684010	NM_014946.4(SPAST):c.1304_1310dup (p.Ile438fs)	SPAST (I405fs +3 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2584735	NM_014946.4(SPAST):c.113dup (p.Ala39fs)	SPAST (A39fs)	Duplication (frameshift variant)	Hereditary spastic paraplegia 4	GPathogenic
Select item 2442026	NM_014946.4(SPAST):c.1729-5T>A	SPAST	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 2436275	NM_014946.4(SPAST):c.1448T>G (p.Met483Arg)	SPAST (M450R +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 2436274	NM_014946.4(SPAST):c.226G>T (p.Val76Leu)	SPAST (V76L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 2436273	NM_014946.4(SPAST):c.397A>G (p.Ile133Val)	SPAST (I133V)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GUncertain significance
Select item 2433699	NM_014946.4(SPAST):c.1196C>A (p.Ser399Ter)	SPAST (S366* +3 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 4	GLikely pathogenic
Select item 1992311	NM_014946.4(SPAST):c.1508G>A (p.Arg503Gln)	SPAST (R470Q +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GLikely pathogenic
Select item 1807273	Single allele	SPAST	Deletion	not provided	GPathogenic
Select item 1807272	Single allele	SPAST	Deletion	not provided	GPathogenic
Select item 1807271	Single allele	SPAST	Deletion	not provided	GLikely pathogenic
Select item 1807270	Single allele	SPAST	Deletion	not provided	GPathogenic
Select item 1807269	Single allele	SPAST	Deletion	not provided	GPathogenic
Select item 1807013	NM_014946.4(SPAST):c.1468del (p.Gln490fs)	SPAST (Q457fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1807012	NM_014946.4(SPAST):c.1140_1141dup (p.Phe381fs)	SPAST (F348fs +3 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1807011	NM_014946.4(SPAST):c.73C>T (p.Pro25Ser)	SPAST (P25S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807009	NM_014946.4(SPAST):c.1701del (p.Glu567fs)	SPAST (E534fs +4 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1807007	NM_014946.4(SPAST):c.1655T>C (p.Leu552Ser)	SPAST (L519S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1807006	NM_014946.4(SPAST):c.807del (p.Ser268_Tyr269insTer)	SPAST	Deletion (nonsense +1 more)	not provided	GPathogenic
Select item 1807005	NM_014946.4(SPAST):c.1640G>A (p.Ser547Asn)	SPAST (S514N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1807004	NM_014946.4(SPAST):c.301TCGGCC[1] (p.101SA[1])	SPAST	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1693295	NM_014946.4(SPAST):c.1268T>G (p.Val423Gly)	SPAST (V390G +3 more)	Single nucleotide variant (missense variant)	SPAST-related spastic paraplegia	GLikely pathogenic
Select item 1344810	NM_014946.4(SPAST):c.1483G>C (p.Ala495Pro)	SPAST (A462P +3 more)	Single nucleotide variant (missense variant)	Motor tics	GUncertain significance
Select item 1256424	Single allele	SPAST	Deletion	not provided	GPathogenic
Select item 1256422	Single allele	SPAST	Deletion	not provided	GPathogenic
Select item 1256421	Single allele	SPAST	Deletion	not provided	GPathogenic
Select item 1256246	NM_014946.4(SPAST):c.385A>G (p.Ile129Val)	SPAST (I129V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1256245	NM_014946.4(SPAST):c.1574A>G (p.Gln525Arg)	SPAST (Q492R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1256244	NM_014946.4(SPAST):c.1536+1G>T	SPAST	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1256242	NM_014946.4(SPAST):c.1344T>A (p.Cys448Ter)	SPAST (C415* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1256240	NM_014946.4(SPAST):c.1054C>T (p.Gln352Ter)	SPAST (Q319* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1256239	NM_014946.4(SPAST):c.1053del (p.Lys351fs)	SPAST (K318fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1184967	NM_014946.4(SPAST):c.936del (p.Asp313fs)	SPAST (D280fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1184888	NM_014946.4(SPAST):c.1411G>A (p.Gly471Ser)	SPAST (G438S +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1065559	NM_014946.4(SPAST):c.1606C>T (p.Gln536Ter)	SPAST (Q503* +3 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia	GPathogenic
Select item 996818	NM_014946.4(SPAST):c.790_791del (p.His263_His264insTer)	SPAST	Deletion (nonsense)	not provided	GPathogenic
Select item 996817	NM_014946.4(SPAST):c.784_787del (p.Gly262fs)	SPAST (G229fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 996816	NM_014946.4(SPAST):c.782del (p.Leu260_Ser261insTer)	SPAST	Deletion (nonsense)	not provided	GPathogenic
Select item 996815	NM_014946.4(SPAST):c.780T>G (p.Leu260=)	SPAST	Single nucleotide variant (synonymous variant)	not provided	GPathogenic
Select item 996814	NM_014946.4(SPAST):c.776_778del (p.Gly259_Leu260delinsVal)	SPAST	Deletion (inframe_indel)	not provided	GPathogenic
Select item 994985	NM_014946.4(SPAST):c.447_451del (p.Tyr149_Lys151delinsTer)	SPAST	Deletion (nonsense)	not provided	GPathogenic
Select item 994984	NM_014946.4(SPAST):c.405_409dup (p.Glu137fs)	SPAST (E137fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 994980	NM_014946.4(SPAST):c.1409A>C (p.Asp470Ala)	SPAST (D437A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 994979	NM_014946.4(SPAST):c.139A>T (p.Lys47Ter)	SPAST (K47*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 994784	NM_014946.4(SPAST):c.1250G>C (p.Gly417Ala)	SPAST (G384A +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 989186	NM_014946.4(SPAST):c.1496del (p.Arg499fs)	SPAST (R466fs +3 more)	Deletion (frameshift variant)	Hereditary spastic paraplegia 4	GPathogenic
Select item 989185	NM_014946.4(SPAST):c.1494-1G>A	SPAST	Single nucleotide variant (splice acceptor variant)	Hereditary spastic paraplegia 4	GPathogenic
Select item 989183	NM_014946.4(SPAST):c.1493+2T>C	SPAST	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 4	GPathogenic
Select item 989182	NM_014946.4(SPAST):c.1472A>G (p.Glu491Gly)	SPAST (E458G +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GPathogenic
Select item 989181	NM_014946.4(SPAST):c.1466C>T (p.Pro489Leu)	SPAST (P456L +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GPathogenic
Select item 989180	NM_014946.4(SPAST):c.1463_1464insATTA (p.Pro489fs)	SPAST (P456fs +3 more)	Insertion (frameshift variant)	Hereditary spastic paraplegia 4	GPathogenic
Select item 989179	NM_014946.4(SPAST):c.1462A>G (p.Arg488Gly)	SPAST (R455G +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GPathogenic
Select item 989177	NM_014946.4(SPAST):c.1405T>G (p.Phe469Val)	SPAST (F436V +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GPathogenic
Select item 989176	NM_014946.4(SPAST):c.1396C>G (p.Leu466Val)	SPAST (L433V +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GPathogenic
Select item 989175	NM_014946.4(SPAST):c.1384A>C (p.Lys462Gln)	SPAST (K429Q +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GPathogenic
Select item 989173	NM_014946.4(SPAST):c.1322-2A>C	SPAST	Single nucleotide variant (splice acceptor variant)	Hereditary spastic paraplegia 4	GPathogenic
Select item 989166	NM_014946.4(SPAST):c.352G>C (p.Val118Leu)	SPAST (V118L)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 989165	NM_014946.4(SPAST):c.1699G>A (p.Glu567Lys)	SPAST (E534K +4 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 989164	NM_014946.4(SPAST):c.109G>T (p.Gly37Trp)	SPAST (G37W)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 989163	NM_014946.4(SPAST):c.950T>C (p.Phe317Ser)	SPAST (F284S +3 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 989161	NM_014946.4(SPAST):c.1691_1702del	SPAST	Deletion (splice acceptor variant)	Spastic paraplegia	GUncertain significance
Select item 989120	NM_014946.4(SPAST):c.1321+1G>A	SPAST	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 4	GPathogenic
Select item 989119	NM_014946.4(SPAST):c.1321+2T>G	SPAST	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 4	GPathogenic
Select item 989118	NM_014946.4(SPAST):c.1307C>A (p.Ser436Tyr)	SPAST (S403Y +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GPathogenic
Select item 989117	NM_014946.4(SPAST):c.1306T>C (p.Ser436Pro)	SPAST (S403P +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GPathogenic
Select item 989116	NM_014946.4(SPAST):c.1271G>C (p.Arg424Thr)	SPAST (R391T +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GPathogenic
Select item 989115	NM_014946.4(SPAST):c.1266G>C (p.Leu422Phe)	SPAST (L389F +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GPathogenic
Select item 989114	NM_014946.4(SPAST):c.1263del (p.Lys421fs)	SPAST (K388fs +3 more)	Deletion (frameshift variant)	Hereditary spastic paraplegia 4	GPathogenic
Select item 989113	NM_014946.4(SPAST):c.1253A>G (p.Glu418Gly)	SPAST (E385G +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GPathogenic
Select item 989112	NM_014946.4(SPAST):c.1245+3G>C	SPAST	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 4	GPathogenic
Select item 989111	NM_014946.4(SPAST):c.1242A>G (p.Lys414=)	SPAST	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 4	GPathogenic
Select item 989110	NM_014946.4(SPAST):c.1226C>T (p.Ala409Val)	SPAST (A376V +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GPathogenic
Select item 989109	NM_014946.4(SPAST):c.1219A>C (p.Ser407Arg)	SPAST (S374R +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GPathogenic
Select item 989108	NM_014946.4(SPAST):c.1181C>A (p.Ala394Glu)	SPAST (A361E +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GPathogenic
Select item 989107	NM_014946.4(SPAST):c.1148C>G (p.Pro383Arg)	SPAST (P350R +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GPathogenic
Select item 989106	NM_014946.4(SPAST):c.1105A>C (p.Thr369Pro)	SPAST (T336P +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 989104	NM_014946.4(SPAST):c.1098+2T>A	SPAST	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 4	GPathogenic
Select item 989103	NM_014946.4(SPAST):c.1085C>T (p.Ser362Phe)	SPAST (S329F +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GPathogenic
Select item 989102	NM_014946.4(SPAST):c.1047G>C (p.Leu349Phe)	SPAST (L316F +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GPathogenic
Select item 989101	NM_014946.4(SPAST):c.1004+5G>T	SPAST	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 4	GPathogenic
Select item 989100	NM_014946.4(SPAST):c.1004+1G>T	SPAST	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 4	GPathogenic
Select item 989098	NM_014946.4(SPAST):c.983T>C (p.Ile328Thr)	SPAST (I295T +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4	GPathogenic

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