Related gene-specific medical variations for Gene (Select 80208) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065716	NM_025137.4(SPG11):c.2659C>T (p.Leu887Phe)	SPG11 (L887F)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 3064396	NM_025137.4(SPG11):c.6423_6433dup (p.Leu2145fs)	SPG11 (L2032fs +2 more)	Duplication (frameshift variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 3025294	NM_025137.4(SPG11):c.5245T>C (p.Ser1749Pro)	SPG11, LOC130056971 (S1749P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3014741	NM_025137.4(SPG11):c.5262C>T (p.Thr1754=)	LOC130056971, SPG11	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 11	GLikely benign
Select item 2975077	NM_025137.4(SPG11):c.4207T>C (p.Leu1403=)	LOC130056973, SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 2910373	NM_025137.4(SPG11):c.4252del (p.Met1418fs)	LOC130056973, SPG11 (M1418fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 11	GPathogenic
Select item 2901197	NM_025137.4(SPG11):c.4239G>A (p.Val1413=)	LOC130056973, SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 2846071	NM_025137.4(SPG11):c.5280T>C (p.Cys1760=)	LOC130056971, SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 2830147	NM_025137.4(SPG11):c.5277A>T (p.Ala1759=)	LOC130056971, SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 2825425	NM_025137.4(SPG11):c.4245C>G (p.Thr1415=)	LOC130056973, SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 2819145	NM_025137.4(SPG11):c.4311G>A (p.Glu1437=)	LOC130056973, SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 2794676	NM_025137.4(SPG11):c.4173T>C (p.Leu1391=)	LOC130056973, SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 2788589	NM_025137.4(SPG11):c.5277A>G (p.Ala1759=)	LOC130056971, SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 2784219	NM_025137.4(SPG11):c.4272C>T (p.Cys1424=)	LOC130056973, SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 2756952	NM_025137.4(SPG11):c.5258C>A (p.Ser1753Ter)	LOC130056971, SPG11 (S1753*)	Single nucleotide variant (nonsense +1 more)	Hereditary spastic paraplegia 11	GPathogenic
Select item 2723836	NM_025137.4(SPG11):c.5263C>T (p.Gln1755Ter)	LOC130056971, SPG11 (Q1755*)	Single nucleotide variant (nonsense +1 more)	Hereditary spastic paraplegia 11	GPathogenic
Select item 2713045	NM_025137.4(SPG11):c.4188C>T (p.Ser1396=)	LOC130056973, SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 2704070	NM_025137.4(SPG11):c.5249_5252del (p.Ser1750fs)	LOC130056971, SPG11 (S1750fs)	Deletion (frameshift variant +1 more)	Hereditary spastic paraplegia 11	GPathogenic
Select item 2694613	NM_025137.4(SPG11):c.4269C>G (p.Val1423=)	LOC130056973, SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 2690069	NM_025137.4(SPG11):c.4442G>C (p.Ser1481Thr)	SPG11 (S1481T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684003	NM_025137.4(SPG11):c.4740_4743dup (p.Leu1582fs)	SPG11 (L1582fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2627046	NM_025137.4(SPG11):c.6187_6188del (p.Thr2063fs)	SPG11 (T2015fs +1 more)	Deletion (frameshift variant +1 more)	Hereditary spastic paraplegia 11	GLikely pathogenic
Select item 2585087	NM_025137.4(SPG11):c.4281C>G (p.Cys1427Trp)	LOC130056973, SPG11 (C1427W)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 2436306	NM_025137.4(SPG11):c.6923G>C (p.Gly2308Ala)	SPG11 (G2195A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436305	NM_025137.4(SPG11):c.1736-756C>T	SPG11	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2436304	NM_025137.4(SPG11):c.6872G>A (p.Cys2291Tyr)	SPG11 (C2178Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436303	NM_025137.4(SPG11):c.1886C>A (p.Thr629Asn)	SPG11 (T629N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2125904	NM_025137.4(SPG11):c.4198C>T (p.Gln1400Ter)	LOC130056973, SPG11 (Q1400*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 11	GPathogenic
Select item 2105141	NM_025137.4(SPG11):c.4198C>A (p.Gln1400Lys)	LOC130056973, SPG11 (Q1400K)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 2083896	NM_025137.4(SPG11):c.4230G>A (p.Leu1410=)	LOC130056973, SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 2045774	NM_025137.4(SPG11):c.4200A>G (p.Gln1400=)	LOC130056973, SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 2044007	NM_025137.4(SPG11):c.5266G>A (p.Ala1756Thr)	LOC130056971, SPG11 (A1756T +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 1974944	NM_025137.4(SPG11):c.4206C>T (p.His1402=)	LOC130056973, SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 1965487	NM_025137.4(SPG11):c.4185C>T (p.Phe1395=)	LOC130056973, SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 1901269	NM_025137.4(SPG11):c.4281C>T (p.Cys1427=)	LOC130056973, SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 1807117	NM_025137.4(SPG11):c.1590del (p.His531fs)	SPG11 (H531fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1739555	NM_025137.4(SPG11):c.4300A>G (p.Ser1434Gly)	LOC130056973, SPG11 (S1434G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1739445	NM_025137.4(SPG11):c.4291del (p.Leu1431fs)	LOC130056973, SPG11 (L1431fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 1636328	NM_025137.4(SPG11):c.4215G>A (p.Leu1405=)	LOC130056973, SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 1520828	NM_025137.4(SPG11):c.5275G>T (p.Ala1759Ser)	LOC130056971, SPG11 (A1759S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1520098	NM_025137.4(SPG11):c.5267C>G (p.Ala1756Gly)	LOC130056971, SPG11 (A1756G)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 5 +3 more	GUncertain significance
Select item 1473252	NM_025137.4(SPG11):c.4185C>G (p.Phe1395Leu)	LOC130056973, SPG11 (F1395L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 1467189	NM_025137.4(SPG11):c.4187G>T (p.Ser1396Ile)	LOC130056973, SPG11 (S1396I)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 1447642	NM_025137.4(SPG11):c.4227C>G (p.Asn1409Lys)	LOC130056973, SPG11 (N1409K)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 1412469	NM_025137.4(SPG11):c.4201G>C (p.Asp1401His)	LOC130056973, SPG11 (D1401H)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 1410364	NM_025137.4(SPG11):c.4232C>T (p.Pro1411Leu)	LOC130056973, SPG11 (P1411L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 1387758	NM_025137.4(SPG11):c.4204C>A (p.His1402Asn)	LOC130056973, SPG11 (H1402N)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11 +1 more	GUncertain significance
Select item 1387377	NM_025137.4(SPG11):c.5248del (p.Ser1750fs)	LOC130056971, SPG11 (S1750fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 11	GPathogenic
Select item 1356397	NM_025137.4(SPG11):c.5243C>G (p.Ala1748Gly)	LOC130056971, SPG11 (A1748G)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 1347615	NM_025137.4(SPG11):c.4304A>G (p.Lys1435Arg)	SPG11, LOC130056973 (K1435R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11 +1 more	GUncertain significance
Select item 1325833	NM_025137.4:c.(5866+1_5867-1)_(6477+1_6478-1)del	SPG11	Deletion	Hereditary spastic paraplegia 11	GPathogenic
Select item 1256320	NM_025137.4(SPG11):c.2471del (p.Phe824fs)	SPG11 (F824fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1184565	NM_025137.4(SPG11):c.3729del (p.Ser1244fs)	SPG11 (S1244fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 11	GLikely pathogenic
Select item 1129838	NM_025137.4(SPG11):c.4212G>A (p.Arg1404=)	LOC130056973, SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 1126476	NM_025137.4(SPG11):c.5271T>C (p.His1757=)	LOC130056971, SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 1126196	NM_025137.4(SPG11):c.4233C>T (p.Pro1411=)	LOC130056973, SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 1120052	NM_025137.4(SPG11):c.6404del (p.Ile2135fs)	SPG11 (I2022fs +1 more)	Deletion (frameshift variant)	Spastic paraplegia	GLikely pathogenic
Select item 1116854	NM_025137.4(SPG11):c.4245C>T (p.Thr1415=)	LOC130056973, SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 1055028	NM_025137.4(SPG11):c.5256C>G (p.Phe1752Leu)	LOC130056971, SPG11 (F1752L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 1042684	NC_000015.9:g.(?_44855299)_44955865dup	SPG11	Duplication	Hereditary spastic paraplegia 11	GUncertain significance
Select item 996763	NM_025137.4(SPG11):c.6215_6219dup (p.Phe2074fs)	SPG11 (F1961fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 994509	NM_025137.4(SPG11):c.3884A>G (p.Glu1295Gly)	SPG11 (E1295G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 989217	NM_025137.4(SPG11):c.6343+5G>T	SPG11	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 11 +1 more	GConflicting classifications of pathogenicity
Select item 989216	NM_025137.4(SPG11):c.6123dup (p.Gln2042fs)	SPG11 (Q2042fs)	Duplication (frameshift variant +1 more)	Hereditary spastic paraplegia 11	GPathogenic
Select item 989160	NM_025137.4(SPG11):c.5032G>T (p.Glu1678Ter)	SPG11 (E1678*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 11	GPathogenic
Select item 989159	NM_025137.4(SPG11):c.4406_4407insTA (p.Leu1470fs)	SPG11 (L1470fs)	Insertion (frameshift variant)	Hereditary spastic paraplegia 11	GPathogenic
Select item 989158	NM_025137.4(SPG11):c.4290dup (p.Leu1431fs)	LOC130056973, SPG11 (L1431fs)	Duplication (frameshift variant)	Hereditary spastic paraplegia 11	GPathogenic
Select item 989157	NM_025137.4(SPG11):c.4002-2A>G	SPG11	Single nucleotide variant (splice acceptor variant)	Hereditary spastic paraplegia 11	GPathogenic
Select item 989156	NM_025137.4(SPG11):c.3686+4A>G	SPG11	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 11	GPathogenic
Select item 989155	NM_025137.4(SPG11):c.3447del (p.Ile1150fs)	SPG11 (I1150fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 11	GPathogenic
Select item 989153	NM_025137.4(SPG11):c.2740C>T (p.Gln914Ter)	SPG11 (Q914*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 11	GPathogenic
Select item 989152	NM_025137.4(SPG11):c.2362dup (p.Arg788fs)	SPG11 (R788fs)	Duplication (frameshift variant)	Hereditary spastic paraplegia 11	GPathogenic
Select item 989151	NM_025137.4(SPG11):c.2339dup (p.Asn780fs)	SPG11 (N780fs)	Duplication (frameshift variant)	Hereditary spastic paraplegia 11	GPathogenic
Select item 989150	NM_025137.4(SPG11):c.1819del (p.Ser607fs)	SPG11 (S607fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 11	GPathogenic
Select item 989149	NM_025137.4(SPG11):c.1293_1294insTT (p.Val432fs)	SPG11 (V432fs)	Insertion (frameshift variant)	Hereditary spastic paraplegia 11	GPathogenic
Select item 989148	NM_025137.4(SPG11):c.1130del (p.His377fs)	SPG11 (H377fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 11	GPathogenic
Select item 987454	NM_025137.4(SPG11):c.4396C>T (p.Gln1466Ter)	SPG11 (Q1466*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 987378	NM_025137.4(SPG11):c.4217del (p.Ala1406fs)	LOC130056973, SPG11 (A1406fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 987333	NM_025137.4(SPG11):c.777_781del (p.Ser261fs)	SPG11 (S261fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 987320	NM_025137.4(SPG11):c.4083C>A (p.Tyr1361Ter)	SPG11 (Y1361*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 974826	NM_025137.4(SPG11):c.4852G>T (p.Glu1618Ter)	SPG11 (E1618*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 11	GLikely pathogenic
Select item 974825	NM_025137.4(SPG11):c.1877del (p.Phe626fs)	SPG11 (F626fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 11	GLikely pathogenic
Select item 972946	NM_025137.4(SPG11):c.4253T>A (p.Met1418Lys)	LOC130056973, SPG11 (M1418K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 967879	NM_025137.4(SPG11):c.4237delinsTA (p.Val1413fs)	LOC130056973, SPG11 (V1413fs)	Indel (frameshift variant)	Hereditary spastic paraplegia 11	GPathogenic
Select item 960697	NM_025137.4(SPG11):c.5249C>T (p.Ser1750Phe)	LOC130056971, SPG11 (S1750F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 931264	NM_025137.4(SPG11):c.4877_4878del (p.Phe1626fs)	SPG11 (F1626fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 11	GLikely pathogenic
Select item 931261	NM_025137.4(SPG11):c.668-28G>A	SPG11	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 885492	NM_003758.4(EIF3J):c.*1584T>G	EIF3J, SPG11	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 872178	NM_025137.4(SPG11):c.869+1G>T	SPG11	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 839082	NM_025137.4(SPG11):c.4231C>T (p.Pro1411Ser)	LOC130056973, SPG11 (P1411S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 807231	NM_025137.4(SPG11):c.4309G>C (p.Glu1437Gln)	LOC130056973, SPG11 (E1437Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 761737	NM_025137.4(SPG11):c.5268C>T (p.Ala1756=)	LOC130056971, SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 757837	NM_025137.4(SPG11):c.4317C>T (p.Thr1439=)	LOC130056973, SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 702006	NM_025137.4(SPG11):c.4308A>G (p.Gln1436=)	LOC130056973, SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 701397	NM_025137.4(SPG11):c.4284C>G (p.Pro1428=)	LOC130056973, SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 701224	NM_025137.4(SPG11):c.4284C>A (p.Pro1428=)	LOC130056973, SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 700656	NM_025137.4(SPG11):c.4287G>A (p.Gln1429=)	LOC130056973, SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 695713	NM_025137.4(SPG11):c.4260C>T (p.Ser1420=)	LOC130056973, SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 652808	NM_025137.4(SPG11):c.4233C>G (p.Pro1411=)	LOC130056973, SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 642216	NM_025137.4(SPG11):c.4318G>A (p.Asp1440Asn)	SPG11, LOC130056973 (D1440N)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	GUncertain significance

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