ClinVar for Gene (Select 80208) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370247	NM_025137.4(SPG11):c.887T>G (p.Leu296Arg)	SPG11 (L296R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370177	NM_025137.4(SPG11):c.640T>C (p.Phe214Leu)	SPG11 (F214L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367021	NM_025137.4(SPG11):c.161T>G (p.Leu54Arg)	SPG11 (L54R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 3366305	NM_025137.4(SPG11):c.1082_1083del (p.Pro361fs)	SPG11 (P361fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 11	GPathogenic
Select item 3365366	NM_025137.4(SPG11):c.2195A>G (p.Asn732Ser)	SPG11 (N732S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364386	NM_025137.4(SPG11):c.4301G>A (p.Ser1434Asn)	LOC130056973, SPG11 (S1434N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363262	NM_025137.4(SPG11):c.2451G>C (p.Trp817Cys)	SPG11 (W817C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362698	NM_025137.4(SPG11):c.1049_1052del (p.Lys350fs)	SPG11 (K350fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 11	GPathogenic
Select item 3349394	NM_025137.4(SPG11):c.1603-10C>G	SPG11	Single nucleotide variant (intron variant)	SPG11-related disorder	GLikely benign
Select item 3345251	NM_025137.4(SPG11):c.6936G>C (p.Met2312Ile)	SPG11 (M2199I +2 more)	Single nucleotide variant (missense variant)	SPG11-related disorder	GUncertain significance
Select item 3343278	NM_025137.4(SPG11):c.275C>A (p.Ser92Tyr)	SPG11 (S92Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341826	NM_025137.4(SPG11):c.1457-6C>T	SPG11	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3339967	NM_025137.4(SPG11):c.3080T>G (p.Leu1027Ter)	SPG11 (L1027*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia	GPathogenic
Select item 3336669	NM_025137.4(SPG11):c.3783del (p.Gly1262fs)	SPG11 (G1262fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 11 +2 more	GLikely pathogenic
Select item 3322175	NM_025137.4(SPG11):c.1087T>C (p.Phe363Leu)	SPG11 (F363L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322174	NM_025137.4(SPG11):c.6788A>T (p.Gln2263Leu)	SPG11 (Q2215L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322173	NM_025137.4(SPG11):c.532T>G (p.Phe178Val)	SPG11 (F178V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322172	NM_025137.4(SPG11):c.1076G>A (p.Cys359Tyr)	SPG11 (C359Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322171	NM_025137.4(SPG11):c.3612T>A (p.His1204Gln)	SPG11 (H1204Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3250419	NM_025137.4(SPG11):c.4012G>T (p.Glu1338Ter)	SPG11 (E1338*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 11	GLikely pathogenic
Select item 3243799	NC_000015.9:g.(?_44918627)_(44928701_?)del	SPG11	Deletion	Hereditary spastic paraplegia 11	GLikely pathogenic
Select item 3243798	NC_000015.9:g.(?_44921451)_(44925371_?)del	SPG11	Deletion	Hereditary spastic paraplegia 11	GLikely pathogenic
Select item 3243797	NC_000015.9:g.(?_44945058)_(44949397_?)del	SPG11	Deletion	Hereditary spastic paraplegia 11	GLikely pathogenic
Select item 3243796	NC_000015.9:g.(?_44881430)_(44955845_?)dup	SPG11	Duplication	Hereditary spastic paraplegia 11	GUncertain significance
Select item 3243795	NC_000015.9:g.(?_44887437)_(44925855_?)del	SPG11	Deletion	Hereditary spastic paraplegia 11	GPathogenic
Select item 3243794	NC_000015.9:g.(?_44898203)_(44941229_?)del	SPG11	Deletion	Hereditary spastic paraplegia 11	GPathogenic
Select item 3243793	NC_000015.9:g.(?_44856725)_(44858523_?)del	SPG11	Deletion	Hereditary spastic paraplegia 11	GPathogenic
Select item 3243791	NC_000015.9:g.(?_44859602)_(44867259_?)del	SPG11	Deletion	Hereditary spastic paraplegia 11	GPathogenic
Select item 3243790	NC_000015.9:g.(?_44865725)_(44867259_?)del	SPG11	Deletion	Hereditary spastic paraplegia 11	GPathogenic
Select item 3243789	NC_000015.9:g.(?_44881430)_(44884656_?)del	SPG11	Deletion	Hereditary spastic paraplegia 11	GPathogenic
Select item 3243788	NC_000015.9:g.(?_44859602)_(44889161_?)del	SPG11	Deletion	Hereditary spastic paraplegia 11	GPathogenic
Select item 3243787	NC_000015.9:g.(?_44898203)_(44955845_?)del	SPG11	Deletion	Hereditary spastic paraplegia 11	GPathogenic
Select item 3243786	NC_000015.9:g.(?_44855319)_(44855519_?)del	SPG11	Deletion	Hereditary spastic paraplegia 11	GPathogenic
Select item 3243785	NC_000015.9:g.(?_44856725)_(44856916_?)del	SPG11	Deletion	Hereditary spastic paraplegia 11	GPathogenic
Select item 3243784	NC_000015.9:g.(?_44867080)_(44867259_?)del	SPG11	Deletion	Hereditary spastic paraplegia 11	GPathogenic
Select item 3239474	NM_025137.4(SPG11):c.5156_5162del (p.Glu1719fs)	SPG11 (E1719fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 3168998	NM_025137.4(SPG11):c.7156A>G (p.Lys2386Glu)	SPG11 (K2273E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168996	NM_025137.4(SPG11):c.6880C>T (p.Leu2294Phe)	SPG11 (L2181F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168995	NM_025137.4(SPG11):c.6206G>C (p.Gly2069Ala)	SPG11 (G2021A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168994	NM_025137.4(SPG11):c.6023A>G (p.Tyr2008Cys)	SPG11 (Y2008C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3168992	NM_025137.4(SPG11):c.531A>G (p.Ile177Met)	SPG11 (I177M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168991	NM_025137.4(SPG11):c.5122A>T (p.Ile1708Leu)	SPG11 (I1708L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3168989	NM_025137.4(SPG11):c.4557T>A (p.Asp1519Glu)	SPG11 (D1519E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168988	NM_025137.4(SPG11):c.4420G>A (p.Ala1474Thr)	SPG11 (A1474T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168984	NM_025137.4(SPG11):c.3497C>G (p.Ser1166Cys)	SPG11 (S1166C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168983	NM_025137.4(SPG11):c.3232G>A (p.Glu1078Lys)	SPG11 (E1078K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168982	NM_025137.4(SPG11):c.2804T>A (p.Met935Lys)	SPG11 (M935K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168980	NM_025137.4(SPG11):c.2629T>C (p.Ser877Pro)	SPG11 (S877P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168979	NM_025137.4(SPG11):c.2252A>T (p.Asp751Val)	SPG11 (D751V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168977	NM_025137.4(SPG11):c.1990G>A (p.Ala664Thr)	SPG11 (A664T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168975	NM_025137.4(SPG11):c.1523A>G (p.His508Arg)	SPG11 (H508R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168974	NM_025137.4(SPG11):c.1447G>A (p.Val483Ile)	SPG11 (V483I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3148837	NM_025137.4(SPG11):c.6530_6534del (p.Asp2177fs)	SPG11 (D2064fs +2 more)	Microsatellite (frameshift variant)	Hereditary spastic paraplegia 11	GPathogenic
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 3064014	NM_025137.4(SPG11):c.6756G>A (p.Glu2252=)	SPG11	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 3063904	NM_025137.4(SPG11):c.2339del (p.Asn780fs)	SPG11 (N780fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia	GPathogenic
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 3063371	GRCh37/hg19 15q15.3-21.1(chr15:44663847-44917029)x3	CTDSPL2, EIF3J +2 more	Copy number gain	not specified	GUncertain significance
Select item 3046341	NM_025137.4(SPG11):c.*3G>A	SPG11	Single nucleotide variant (3 prime UTR variant)	SPG11-related disorder	GLikely benign
Select item 3041162	NM_025137.4(SPG11):c.3723G>A (p.Gly1241=)	SPG11	Single nucleotide variant (synonymous variant)	SPG11-related disorder	GLikely benign
Select item 3029297	NM_025137.4(SPG11):c.4380T>G (p.Val1460=)	SPG11	Single nucleotide variant (synonymous variant)	SPG11-related disorder	GLikely benign
Select item 3026887	NM_025137.4(SPG11):c.759A>G (p.Pro253=)	SPG11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025294	NM_025137.4(SPG11):c.5245T>C (p.Ser1749Pro)	LOC130056971, SPG11 (S1749P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3022749	NM_025137.4(SPG11):c.6343+19T>G	SPG11	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3021678	NM_025137.4(SPG11):c.3292-7dup	SPG11	Duplication (intron variant)	Hereditary spastic paraplegia 11	GBenign
Select item 3021546	NM_025137.4(SPG11):c.6844-14C>T	SPG11	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3021054	NM_025137.4(SPG11):c.4906+17A>G	SPG11	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3020728	NM_025137.4(SPG11):c.1155C>T (p.Ala385=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3020503	NM_025137.4(SPG11):c.2523del (p.Glu841fs)	SPG11 (E841fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 11	GPathogenic
Select item 3020250	NM_025137.4(SPG11):c.6510C>T (p.Asn2170=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3020064	NM_025137.4(SPG11):c.201T>C (p.Ser67=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3020001	NM_025137.4(SPG11):c.3520+11A>G	SPG11	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3019107	NM_025137.4(SPG11):c.6200del (p.Gly2067fs)	SPG11 (G2067fs +1 more)	Deletion (frameshift variant +1 more)	Hereditary spastic paraplegia 11	GPathogenic
Select item 3018270	NM_025137.4(SPG11):c.3231G>A (p.Leu1077=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3017096	NM_025137.4(SPG11):c.6946T>C (p.Leu2316=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3016318	NM_025137.4(SPG11):c.2127G>A (p.Arg709=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3015697	NM_025137.4(SPG11):c.4392A>G (p.Lys1464=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3015282	NM_025137.4(SPG11):c.3759A>G (p.Ala1253=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3014840	NM_025137.4(SPG11):c.2625C>G (p.Tyr875Ter)	SPG11 (Y875*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 11	GPathogenic
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 3014645	NM_025137.4(SPG11):c.6438A>G (p.Thr2146=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3014276	NM_025137.4(SPG11):c.2478C>T (p.His826=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3013543	NM_025137.4(SPG11):c.4162-11A>G	SPG11	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3013477	NM_025137.4(SPG11):c.6705C>T (p.His2235=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3013465	NM_025137.4(SPG11):c.597A>G (p.Ala199=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3013084	NM_025137.4(SPG11):c.3903A>G (p.Leu1301=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3012744	NM_025137.4(SPG11):c.2349T>C (p.Ser783=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3010192	NM_025137.4(SPG11):c.4107_4109delinsAG (p.Asn1369fs)	SPG11 (N1369fs)	Indel (frameshift variant)	Hereditary spastic paraplegia 11	GPathogenic
Select item 3009447	NM_025137.4(SPG11):c.6750C>G (p.Pro2250=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3008903	NM_025137.4(SPG11):c.4162-13A>G	SPG11	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3008783	NM_025137.4(SPG11):c.4146C>T (p.Asn1382=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3007969	NM_025137.4(SPG11):c.2847T>C (p.Phe949=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3007288	NM_025137.4(SPG11):c.6523del (p.Ile2175fs)	SPG11 (I2062fs +2 more)	Deletion (frameshift variant)	Hereditary spastic paraplegia 11	GPathogenic
Select item 3006795	NM_025137.4(SPG11):c.2223C>T (p.Ala741=)	SPG11	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3006718	NM_025137.4(SPG11):c.6344-9C>T	SPG11	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3006005	NM_025137.4(SPG11):c.6477G>A (p.Val2159=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GUncertain significance
Select item 3005892	NM_025137.4(SPG11):c.5433T>C (p.Leu1811=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3005319	NM_025137.4(SPG11):c.5121+12del	SPG11	Deletion (intron variant)	Hereditary spastic paraplegia 11	GLikely benign
Select item 3004851	NM_025137.4(SPG11):c.6006+8C>T	SPG11	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 11	GLikely benign

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