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Items: 29

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPG11
(G2443fs +1 more)
Deletion
(frameshift variant)
Amyotrophic lateral sclerosis type 5
+3 more
GUncertain significance
SPG11
Duplication
(splice donor variant)
Amyotrophic lateral sclerosis type 5
+4 more
GConflicting classifications of pathogenicity
SPG11
(E2134fs +1 more)
Deletion
(frameshift variant)
Amyotrophic lateral sclerosis type 5
+4 more
GPathogenic
SPG11
(I2133fs +1 more)
Microsatellite
(frameshift variant)
Hereditary spastic paraplegia 11
+3 more
GPathogenic/Likely pathogenic
SPG11
(R2209C +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
+6 more
GUncertain significance
SPG11
(S2153I +1 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 5
+2 more
GConflicting classifications of pathogenicity
SPG11
(V2107I +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2X
+5 more
GBenign/Likely benign
SPG11
(V2053M)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
SPG11
(D2015N)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease axonal type 2X
+3 more
GUncertain significance
SPG11
(C1996fs)
Duplication
(frameshift variant +1 more)
Hereditary spastic paraplegia 11
+4 more
GPathogenic
SPG11
(Y1990C)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 11
+3 more
GConflicting classifications of pathogenicity
SPG11
Deletion
(splice donor variant)
Hereditary spastic paraplegia 11
+2 more
GPathogenic/Likely pathogenic
SPG11
(Q1875*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease axonal type 2X
+4 more
GPathogenic
SPG11
(R1824Q)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
+3 more
GConflicting classifications of pathogenicity
SPG11
(V1602M)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 5
+2 more
GUncertain significance
SPG11
(A1568T)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
+2 more
GUncertain significance
SPG11
(V1488fs)
Microsatellite
(frameshift variant)
Amyotrophic lateral sclerosis type 5
+2 more
GPathogenic
SPG11
(I1230fs)
Insertion
(frameshift variant)
Abnormal central motor function
+3 more
GPathogenic/Likely pathogenic
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
+3 more
GLikely benign
SPG11
(S1142C)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
SPG11
(C1107S)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
+4 more
GConflicting classifications of pathogenicity
SPG11
Duplication
(intron variant)
Amyotrophic lateral sclerosis type 5
+3 more
GBenign/Likely benign
SPG11
(V793M)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 5
+4 more
GLikely benign
SPG11
(Y668C)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
+4 more
GUncertain significance
SPG11
(I450fs)
Duplication
(frameshift variant)
Amyotrophic lateral sclerosis type 5
+4 more
GPathogenic
SPG11
(I450V)
Inversion
(missense variant)
Amyotrophic lateral sclerosis type 5
+2 more
GBenign/Likely benign
SPG11
(W362*)
Single nucleotide variant
(nonsense)
Amyotrophic lateral sclerosis type 5
+4 more
GPathogenic
SPG11
(M245fs)
Deletion
(frameshift variant)
Abnormal central motor function
+6 more
GPathogenic
SPG11
(M202V)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
+3 more
GUncertain significance
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