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Items: 97

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPG11
(Q2274fs +1 more)
Insertion
(frameshift variant)
Hereditary spastic paraplegia 11
Gnot provided
SPG11
Single nucleotide variant
(splice acceptor variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
Microsatellite
(splice donor variant)
Hereditary spastic paraplegia 11
Gnot provided
SPG11
(K2368* +1 more)
Duplication
(nonsense)
Hereditary spastic paraplegia 11
Gnot provided
SPG11
(Y2250* +1 more)
Duplication
(nonsense)
Hereditary spastic paraplegia 11
Gnot provided
SPG11
(V2231fs +1 more)
Duplication
(frameshift variant)
Amyotrophic lateral sclerosis type 5
+1 more
GPathogenic
SPG11
(Y2341* +1 more)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 11
Gnot provided
SPG11
Insertion
(intron variant)
Hereditary spastic paraplegia
+1 more
GPathogenic/Likely pathogenic
SPG11
(L2300fs +1 more)
Microsatellite
(frameshift variant)
SPG11-related condition
+2 more
GConflicting classifications of pathogenicity
SPG11
(R2286* +1 more)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic
SPG11
(S2165fs +1 more)
Microsatellite
(frameshift variant)
Inborn genetic diseases
+2 more
GPathogenic
SPG11
(L2264fs +1 more)
Duplication
(frameshift variant)
Hereditary spastic paraplegia 11
Gnot provided
SPG11
(E2134fs +1 more)
Deletion
(frameshift variant)
not provided
+4 more
GPathogenic
SPG11
(I2133fs +1 more)
Microsatellite
(frameshift variant)
not provided
+3 more
GPathogenic/Likely pathogenic
SPG11
Deletion
(splice acceptor variant +1 more)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 5
+3 more
GConflicting classifications of pathogenicity
SPG11
(A2038fs +1 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
SPG11
Single nucleotide variant
(splice acceptor variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(V2053M)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
SPG11
(R2034*)
Single nucleotide variant
(nonsense +1 more)
Inborn genetic diseases
+2 more
GPathogenic
SPG11
(R2031*)
Single nucleotide variant
(nonsense +1 more)
not provided
+3 more
GPathogenic
SPG11
(Y1998fs)
Duplication
(frameshift variant +1 more)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(L1997fs)
Microsatellite
(frameshift variant +1 more)
SPG11-related spastic paraplegia
+2 more
GPathogenic/Likely pathogenic
SPG11
(C1996fs)
Duplication
(frameshift variant +1 more)
Hereditary spastic paraplegia 11
+4 more
GPathogenic
SPG11
(Q1993*)
Single nucleotide variant
(intron variant +1 more)
Hereditary spastic paraplegia 11
Gnot provided
SPG11
(R1992*)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic
SPG11
(Y1990*)
Single nucleotide variant
(nonsense +1 more)
Hereditary spastic paraplegia 11
Gnot provided
SPG11
(S1957*)
Single nucleotide variant
(nonsense +1 more)
Hereditary spastic paraplegia 11
Gnot provided
SPG11
(A1933fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 11
Gnot provided
SPG11
(S1923fs)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease axonal type 2X
+4 more
GPathogenic
SPG11
(H1902fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(Q1875*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease axonal type 2X
+4 more
GPathogenic
SPG11
(K1845fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 11
Gnot provided
SPG11
(R1824*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
SPG11
(E1819fs)
Microsatellite
(frameshift variant)
Inborn genetic diseases
+2 more
GPathogenic
SPG11
(C1804fs)
Microsatellite
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(Q1800fs)
Indel
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
LOC130056971, SPG11
(F1752fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic
SPG11
(Q1616*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 11
Gnot provided
SPG11
(Y1556*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 11
Gnot provided
SPG11
(V1488fs)
Microsatellite
(frameshift variant)
Hereditary spastic paraplegia 11
+2 more
GPathogenic
SPG11, LOC130056973
(Q1436fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic
SPG11
(F1349Y)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
Gnot provided
SPG11
(P1248fs)
Duplication
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(I1240fs)
Microsatellite
(frameshift variant)
Hereditary spastic paraplegia 11
Gnot provided
SPG11
(K1222fs)
Insertion
(frameshift variant)
Inborn genetic diseases
+2 more
GPathogenic
SPG11
(Y1201fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 11
Gnot provided
SPG11
Single nucleotide variant
(splice donor variant)
Charcot-Marie-Tooth disease axonal type 2X
+1 more
GPathogenic
SPG11
(E1026fs)
Duplication
(frameshift variant)
Abnormal central motor function
+3 more
GPathogenic
SPG11
(L950fs)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic
SPG11
(V948fs)
Duplication
(frameshift variant)
Hereditary spastic paraplegia 11
Gnot provided
SPG11
Single nucleotide variant
(splice donor variant)
Amyotrophic lateral sclerosis type 5
+2 more
GPathogenic/Likely pathogenic
SPG11
(R945G)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(Q906fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic
SPG11
(W899*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 11
Gnot provided
SPG11
(I870V)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
Gnot provided
SPG11
(K825*)
Insertion
(nonsense)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
Single nucleotide variant
(splice donor variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(R815M)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
Gnot provided
SPG11
(R788fs)
Microsatellite
(frameshift variant)
Hereditary spastic paraplegia 11
Gnot provided
SPG11
Single nucleotide variant
(splice donor variant)
not provided
+2 more
GPathogenic
SPG11
(L733*)
Single nucleotide variant
(nonsense)
Amyotrophic lateral sclerosis type 5
+1 more
GPathogenic
SPG11
(I722fs)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic
SPG11
(Q716*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 11
+2 more
GPathogenic/Likely pathogenic
SPG11
(R651*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia
+1 more
GPathogenic
SPG11
(S616fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 11
Gnot provided
SPG11
(L613fs)
Insertion
(frameshift variant)
not provided
+1 more
GPathogenic
SPG11
Microsatellite
(splice donor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
SPG11
(D566fs)
Indel
(frameshift variant)
Hereditary spastic paraplegia 11
Gnot provided
SPG11
(S560*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
SPG11
(F556fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 11
Gnot provided
SPG11
(C518fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 11
GConflicting classifications of pathogenicity
SPG11
(C518fs)
Microsatellite
(frameshift variant)
Hereditary spastic paraplegia 11
Gnot provided
SPG11
(Q498*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 11
+1 more
GPathogenic
SPG11
(L491fs)
Microsatellite
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
Single nucleotide variant
(splice acceptor variant)
Hereditary spastic paraplegia
+1 more
GPathogenic
SPG11
(K428*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 11
Gnot provided
SPG11
(S412*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 11
GPathogenic/Likely pathogenic
SPG11
(D402fs)
Deletion
(frameshift variant)
SPG11-related condition
+2 more
GPathogenic
SPG11
Single nucleotide variant
(splice donor variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(M245fs)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease axonal type 2X
+6 more
GPathogenic
SPG11
(H235fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
SPG11
(S218fs)
Indel
(frameshift variant)
Hereditary spastic paraplegia 11
Gnot provided
SPG11
(F214fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(I177fs)
Microsatellite
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic
SPG11
Deletion
(inframe_deletion)
Hereditary spastic paraplegia
GPathogenic
SPG11
(C133fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 11
Gnot provided
SPG11
Deletion
(nonsense)
Hereditary spastic paraplegia 11
Gnot provided
SPG11
(E117*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(E90*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 11
Gnot provided
SPG11
(W89*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
SPG11
(Q40*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
Insertion
Hereditary spastic paraplegia 11
GPathogenic
SPG11
Duplication
Hereditary spastic paraplegia 11
GPathogenic
SPG11
Deletion
Hereditary spastic paraplegia 11
GPathogenic
SPG11
Insertion
Hereditary spastic paraplegia 11
GPathogenic
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