ClinVar for MedGen (Select 356388) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1710024	NM_025137.4(SPG11):c.7268T>G (p.Ile2423Ser)	SPG11 (I2310S +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11 +2 more	GUncertain significance
Select item 1623152	NM_025137.4(SPG11):c.3663C>A (p.Ile1221=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11 +2 more	GLikely benign
Select item 1520098	NM_025137.4(SPG11):c.5267C>G (p.Ala1756Gly)	LOC130056971, SPG11 (A1756G)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1495977	NM_025137.4(SPG11):c.361A>C (p.Lys121Gln)	SPG11 (K121Q)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 5 +3 more	GUncertain significance
Select item 1413521	NM_025137.4(SPG11):c.5497T>G (p.Ser1833Ala)	SPG11 (S1833A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2X +3 more	GUncertain significance
Select item 1403334	NM_025137.4(SPG11):c.695A>G (p.Tyr232Cys)	SPG11 (Y232C)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 5 +3 more	GUncertain significance
Select item 1346009	NM_025137.4(SPG11):c.1007G>A (p.Arg336Lys)	SPG11 (R336K)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11 +3 more	GUncertain significance
Select item 1344094	NM_025137.4(SPG11):c.6013G>A (p.Gly2005Ser)	SPG11 (G2005S)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 5 +3 more	GUncertain significance
Select item 1344090	NM_025137.4(SPG11):c.3648G>A (p.Leu1216=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11 +3 more	GConflicting classifications of pathogenicity
Select item 1344089	NM_025137.4(SPG11):c.3362C>G (p.Thr1121Ser)	SPG11 (T1121S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11 +3 more	GUncertain significance
Select item 1344082	NM_025137.4(SPG11):c.2321A>C (p.Glu774Ala)	SPG11 (E774A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2X +4 more	GUncertain significance
Select item 1344076	NM_025137.4(SPG11):c.1632A>G (p.Thr544=)	SPG11	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 5 +3 more	GUncertain significance
Select item 1331133	NM_025137.4(SPG11):c.3901C>A (p.Leu1301Ile)	SPG11 (L1301I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2X +3 more	GUncertain significance
Select item 1311760	NM_025137.4(SPG11):c.6017G>A (p.Cys2006Tyr)	SPG11 (C2006Y)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 11 +4 more	GUncertain significance
Select item 1305131	NM_025137.4(SPG11):c.2717A>G (p.Gln906Arg)	SPG11 (Q906R)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 5 +3 more	GUncertain significance
Select item 1301785	NM_025137.4(SPG11):c.1735+4A>G	SPG11	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 5 +2 more	GUncertain significance
Select item 1256321	NM_025137.4(SPG11):c.4107T>A (p.Asn1369Lys)	SPG11 (N1369K)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 5 +3 more	GUncertain significance
Select item 1209966	NM_025137.4(SPG11):c.2445-32dup	SPG11	Duplication (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1205227	NM_025137.4(SPG11):c.4907-13C>G	SPG11	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 11 +3 more	GLikely benign
Select item 1180842	NM_025137.4(SPG11):c.3687_3688insC (p.Ile1230fs)	SPG11 (I1230fs)	Insertion (frameshift variant)	Amyotrophic lateral sclerosis type 5 +3 more	GPathogenic/Likely pathogenic
Select item 1046316	NM_025137.4(SPG11):c.634A>G (p.Ile212Val)	SPG11 (I212V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2X +5 more	GUncertain significance
Select item 1042082	NM_025137.4(SPG11):c.130C>T (p.Arg44Trp)	SPG11 (R44W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2X +3 more	GUncertain significance
Select item 1034089	NM_025137.4(SPG11):c.6468T>C (p.Tyr2156=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11 +1 more	GConflicting classifications of pathogenicity
Select item 1029952	NM_025137.4(SPG11):c.3989A>G (p.Gln1330Arg)	SPG11 (Q1330R)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 5	GUncertain significance
Select item 1029951	NM_025137.4(SPG11):c.250T>C (p.Phe84Leu)	SPG11 (F84L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1014205	NM_025137.4(SPG11):c.5688A>C (p.Arg1896Ser)	SPG11 (R1896S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11 +3 more	GUncertain significance
Select item 1012843	NM_025137.4(SPG11):c.1207C>T (p.His403Tyr)	SPG11 (H403Y)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1012842	NM_025137.4(SPG11):c.3778T>C (p.Leu1260=)	SPG11	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1012841	NM_025137.4(SPG11):c.4122C>T (p.Phe1374=)	SPG11	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1005736	NM_025137.4(SPG11):c.6278G>A (p.Arg2093His)	SPG11 (R1980H +1 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 5 +4 more	GConflicting classifications of pathogenicity
Select item 1004863	NM_025137.4(SPG11):c.6697G>A (p.Glu2233Lys)	SPG11 (E2120K +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11 +3 more	GUncertain significance
Select item 994510	NM_025137.4(SPG11):c.7152-14_7152-10dup	SPG11	Duplication (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 969429	NM_025137.4(SPG11):c.789A>G (p.Lys263=)	SPG11	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2X +3 more	GConflicting classifications of pathogenicity
Select item 954941	NM_025137.4(SPG11):c.6526T>C (p.Phe2176Leu)	SPG11 (F2176L +1 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 5 +3 more	GUncertain significance
Select item 954367	NM_025137.4(SPG11):c.6175C>T (p.Arg2059Trp)	SPG11 (R2059W)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 5 +3 more	GUncertain significance
Select item 951235	NM_025137.4(SPG11):c.3914C>G (p.Ala1305Gly)	SPG11 (A1305G)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +3 more	GUncertain significance
Select item 948415	NM_025137.4(SPG11):c.6621C>G (p.Ile2207Met)	SPG11 (I2094M +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 947714	NM_025137.4(SPG11):c.4702G>A (p.Ala1568Thr)	SPG11 (A1568T)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11 +2 more	GUncertain significance
Select item 947632	NM_025137.4(SPG11):c.31G>C (p.Ala11Pro)	SPG11 (A11P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2X +3 more	GConflicting classifications of pathogenicity
Select item 941857	NM_025137.4(SPG11):c.6092G>A (p.Arg2031Gln)	SPG11 (R2031Q)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 935548	NM_025137.4(SPG11):c.6458G>T (p.Ser2153Ile)	SPG11 (S2153I +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11 +2 more	GConflicting classifications of pathogenicity
Select item 887760	NM_025137.4(SPG11):c.6726A>G (p.Gln2242=)	SPG11	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2X +2 more	GConflicting classifications of pathogenicity
Select item 887759	NM_025137.4(SPG11):c.6908A>T (p.His2303Leu)	SPG11 (H2190L +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2X +2 more	GUncertain significance
Select item 887758	NM_025137.4(SPG11):c.6953G>A (p.Arg2318His)	SPG11 (R2205H +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2X +3 more	GUncertain significance
Select item 886748	NM_025137.4(SPG11):c.19G>T (p.Val7Phe)	SPG11 (V7F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2X +2 more	GUncertain significance
Select item 886699	NM_025137.4(SPG11):c.1529G>A (p.Ser510Asn)	SPG11 (S510N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2X +3 more	GUncertain significance
Select item 886646	NM_025137.4(SPG11):c.3412A>G (p.Ser1138Gly)	SPG11 (S1138G)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11 +2 more	GUncertain significance
Select item 886578	NM_025137.4(SPG11):c.5598C>T (p.Cys1866=)	SPG11	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 11 +2 more	GConflicting classifications of pathogenicity
Select item 886577	NM_025137.4(SPG11):c.5741G>T (p.Cys1914Phe)	SPG11 (C1914F)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11 +2 more	GUncertain significance
Select item 885689	NM_025137.4(SPG11):c.1618C>T (p.Arg540Cys)	SPG11 (R540C)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 885627	NM_025137.4(SPG11):c.3508C>A (p.Leu1170Ile)	SPG11 (L1170I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2X +2 more	GUncertain significance
Select item 885558	NM_025137.4(SPG11):c.5975G>A (p.Arg1992Gln)	SPG11 (R1992Q)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2X +2 more	GUncertain significance
Select item 885493	NM_025137.4(SPG11):c.7258T>A (p.Phe2420Ile)	SPG11 (F2307I +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2X +2 more	GConflicting classifications of pathogenicity
Select item 884749	NM_025137.4(SPG11):c.2620+6T>C	SPG11	Single nucleotide variant (intron variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 873263	NM_025137.4(SPG11):c.2250del (p.Phe750fs)	SPG11 (F750fs)	Deletion (frameshift variant)	Amyotrophic lateral sclerosis type 5	GPathogenic
Select item 873262	NM_025137.4(SPG11):c.1966_1967del (p.Lys656fs)	SPG11 (K656fs)	Deletion (frameshift variant)	Amyotrophic lateral sclerosis type 5 +2 more	GPathogenic/Likely pathogenic
Select item 873227	NM_025137.4(SPG11):c.1432C>T (p.Gln478Ter)	SPG11 (Q478*)	Single nucleotide variant (nonsense)	Amyotrophic lateral sclerosis type 5	GPathogenic
Select item 872176	NM_025137.4(SPG11):c.2966A>G (p.His989Arg)	SPG11 (H989R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 862214	NM_025137.4(SPG11):c.4804G>A (p.Val1602Met)	SPG11 (V1602M)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 5 +2 more	GUncertain significance
Select item 862077	NM_025137.4(SPG11):c.150G>C (p.Gln50His)	SPG11 (Q50H)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 860264	NM_025137.4(SPG11):c.256C>G (p.His86Asp)	SPG11 (H86D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2X +3 more	GUncertain significance
Select item 859107	NM_025137.4(SPG11):c.3558C>G (p.Asp1186Glu)	SPG11 (D1186E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2X +4 more	GConflicting classifications of pathogenicity
Select item 858520	NM_025137.4(SPG11):c.5866_5866+4del	SPG11	Deletion (splice donor variant)	Hereditary spastic paraplegia 11 +2 more	GPathogenic/Likely pathogenic
Select item 857952	NM_025137.4(SPG11):c.3818A>C (p.Lys1273Thr)	SPG11 (K1273T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2X +3 more	GUncertain significance
Select item 857886	NM_025137.4(SPG11):c.1384T>C (p.Cys462Arg)	SPG11 (C462R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 856716	NM_025137.4(SPG11):c.2612dup (p.Ser871fs)	SPG11 (S871fs)	Duplication (frameshift variant)	Hereditary spastic paraplegia 11	GPathogenic
Select item 855832	NM_025137.4(SPG11):c.206C>T (p.Thr69Met)	SPG11 (T69M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 849918	NM_025137.4(SPG11):c.5106C>G (p.Asn1702Lys)	SPG11 (N1702K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 849456	NM_025137.4(SPG11):c.2128A>G (p.Ile710Val)	SPG11 (I710V)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +3 more	GUncertain significance
Select item 842707	NM_025137.4(SPG11):c.5011C>T (p.His1671Tyr)	SPG11 (H1671Y)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 842706	NM_025137.4(SPG11):c.1121C>G (p.Ser374Cys)	SPG11 (S374C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 840653	NM_025137.4(SPG11):c.4873C>T (p.Leu1625Phe)	SPG11 (L1625F)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11 +4 more	GConflicting classifications of pathogenicity
Select item 836558	NM_025137.4(SPG11):c.193G>A (p.Val65Met)	SPG11 (V65M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2X +3 more	GUncertain significance
Select item 835037	NM_025137.4(SPG11):c.6180G>C (p.Glu2060Asp)	SPG11 (E2060D)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2X +3 more	GUncertain significance
Select item 834690	NM_025137.4(SPG11):c.6881T>C (p.Leu2294Pro)	SPG11 (L2294P +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +3 more	GUncertain significance
Select item 807235	NM_025137.4(SPG11):c.79C>T (p.Pro27Ser)	SPG11 (P27S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 804472	NM_025137.4(SPG11):c.5199del (p.Lys1733fs)	SPG11 (K1733fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 11 +2 more	GPathogenic/Likely pathogenic
Select item 701309	NM_025137.4(SPG11):c.2379G>A (p.Val793=)	SPG11	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 5 +3 more	GLikely benign
Select item 695211	NM_025137.4(SPG11):c.2377G>A (p.Val793Met)	SPG11 (V793M)	Single nucleotide variant (missense variant)	not provided +4 more	GLikely benign
Select item 680410	NM_025137.4(SPG11):c.2445-20A>T	SPG11	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 11 +3 more	GLikely benign
Select item 662587	NM_025137.4(SPG11):c.3893C>T (p.Ala1298Val)	SPG11 (A1298V)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 5 +4 more	GUncertain significance
Select item 661336	NM_025137.4(SPG11):c.5793C>G (p.Ile1931Met)	SPG11 (I1931M)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 5 +4 more	GUncertain significance
Select item 660966	NM_025137.4(SPG11):c.3809T>A (p.Val1270Asp)	SPG11 (V1270D)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11 +1 more	GPathogenic/Likely pathogenic
Select item 656979	NM_025137.4(SPG11):c.2875T>C (p.Cys959Arg)	SPG11 (C959R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2X +3 more	GUncertain significance
Select item 655136	NM_025137.4(SPG11):c.4436G>A (p.Gly1479Asp)	SPG11 (G1479D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 655135	NM_025137.4(SPG11):c.1775C>T (p.Ser592Leu)	SPG11 (S592L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 649756	NM_025137.4(SPG11):c.4970A>G (p.Asn1657Ser)	SPG11 (N1657S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +4 more	GUncertain significance
Select item 648567	NM_025137.4(SPG11):c.2764G>A (p.Val922Ile)	SPG11 (V922I)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11 +4 more	GUncertain significance
Select item 644914	NM_025137.4(SPG11):c.6719G>A (p.Arg2240His)	SPG11 (R2127H +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 639830	NM_025137.4(SPG11):c.6864_6866dup (p.Ala2288_Gln2289insHis)	SPG11	Duplication (inframe_insertion)	Inborn genetic diseases +4 more	GUncertain significance
Select item 638909	NM_025137.4(SPG11):c.6857G>A (p.Arg2286Gln)	SPG11 (R2173Q +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11 +4 more	GUncertain significance
Select item 623869	NM_025137.4(SPG11):c.6367C>T (p.His2123Tyr)	SPG11 (H2123Y +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2X +3 more	GUncertain significance
Select item 580646	NM_025137.4(SPG11):c.28G>A (p.Ala10Thr)	SPG11 (A10T)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 579283	NM_025137.4(SPG11):c.7048A>G (p.Ile2350Val)	SPG11 (I2350V +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2X +4 more	GUncertain significance
Select item 579203	NM_025137.4(SPG11):c.3039-10T>G	SPG11	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2X +3 more	GUncertain significance
Select item 578935	NM_025137.4(SPG11):c.4216G>T (p.Ala1406Ser)	SPG11, LOC130056973 (A1406S)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 5 +4 more	GUncertain significance
Select item 578281	NM_025137.4(SPG11):c.6391C>A (p.His2131Asn)	SPG11 (H2131N +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 574858	NM_025137.4(SPG11):c.763A>G (p.Lys255Glu)	SPG11 (K255E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2X +4 more	GConflicting classifications of pathogenicity
Select item 573436	NM_025137.4(SPG11):c.7324G>C (p.Ala2442Pro)	SPG11 (A2442P +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 11	GUncertain significance

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