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Items: 1 to 100 of 3318

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
B2M, CTDSPL2
+21 more
Duplication
See cases
GUncertain significance
SPG11, EIF3J
Duplication
(3 prime UTR variant)
Spastic Paraplegia, Recessive
GUncertain significance
EIF3J, SPG11
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 11
GUncertain significance
EIF3J, SPG11
Duplication
(3 prime UTR variant)
Spastic Paraplegia, Recessive
GUncertain significance
EIF3J, SPG11
Single nucleotide variant
(3 prime UTR variant)
Spastic Paraplegia, Recessive
GUncertain significance
SPG11
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 11
GUncertain significance
SPG11
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GLikely benign
SPG11
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 11
GUncertain significance
SPG11
Single nucleotide variant
(3 prime UTR variant)
SPG11-related condition
GLikely benign
SPG11
(A2329fs +1 more)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 11
GUncertain significance
SPG11
(G2443fs +1 more)
Deletion
(frameshift variant)
Amyotrophic lateral sclerosis type 5
+3 more
GUncertain significance
SPG11
(A2329V +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
GUncertain significance
SPG11
(A2442T +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
GUncertain significance
SPG11
(A2442P +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
GUncertain significance
SPG11
(L2441P +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
GUncertain significance
SPG11
(L2328I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPG11
(M2327I +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
GUncertain significance
SPG11
(M2327L +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
GUncertain significance
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia
GUncertain significance
SPG11
(K2325R +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
GUncertain significance
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
(C2388Y +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
(G2321A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SPG11
(G2321S +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
GUncertain significance
SPG11
(Q2319fs +1 more)
Duplication
(frameshift variant)
Hereditary spastic paraplegia 11
GUncertain significance
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
(V2426M +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
GUncertain significance
SPG11
(N2312K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SPG11
(V2311I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SPG11
(I2310S +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
+2 more
GUncertain significance
SPG11
(E2309D +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
GUncertain significance
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
(F2307* +1 more)
Duplication
(nonsense +1 more)
Hereditary spastic paraplegia 11
GUncertain significance
SPG11
(F2420L +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
GUncertain significance
SPG11
(F2307I +1 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 5
+2 more
GConflicting classifications of pathogenicity
SPG11
(F2307fs +1 more)
Duplication
(frameshift variant)
not provided
+1 more
GUncertain significance
SPG11
(K2419R +1 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
(H2418R +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
GUncertain significance
SPG11
(E2417fs +1 more)
Indel
(frameshift variant)
Hereditary spastic paraplegia 11
GUncertain significance
SPG11
(E2304* +1 more)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 11
+1 more
GUncertain significance
SPG11
(E2417K +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
+4 more
GConflicting classifications of pathogenicity
SPG11
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GLikely benign
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
+1 more
GLikely benign
SPG11
(A2415E +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
GUncertain significance
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
(K2300E +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SPG11
(Y2299* +1 more)
Duplication
(nonsense +1 more)
Inborn genetic diseases
GUncertain significance
SPG11
(Y2363N +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
GUncertain significance
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
(V2295G +2 more)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
SPG11
(V2408I +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
GUncertain significance
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Deletion
(inframe_deletion)
Hereditary spastic paraplegia 11
GUncertain significance
SPG11
(Y2291* +1 more)
Duplication
(nonsense)
Hereditary spastic paraplegia 11
GUncertain significance
SPG11
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GLikely benign
SPG11
(T2290I +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SPG11
(L2402fs +1 more)
Deletion
(frameshift variant)
Inborn genetic diseases
GUncertain significance
SPG11
(L2354P +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SPG11
(L2289fs +1 more)
Duplication
(frameshift variant)
Hereditary spastic paraplegia 11
GUncertain significance
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
+1 more
GConflicting classifications of pathogenicity
SPG11
(L2288S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SPG11
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GConflicting classifications of pathogenicity
SPG11
(N2397H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
SPG11
(E2283G +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SPG11
(M2282T +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
GUncertain significance
SPG11
(M2280L +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
GUncertain significance
SPG11
(T2278I +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
GUncertain significance
SPG11
(T2278fs +1 more)
Duplication
(frameshift variant)
Hereditary spastic paraplegia 11
GUncertain significance
SPG11
(P2277S +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
(Q2389R +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
GUncertain significance
SPG11
(H2275Q +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
GUncertain significance
SPG11
(Q2387del +1 more)
Microsatellite
(inframe_deletion)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
SPG11
(H2275N +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
GUncertain significance
SPG11
(H2275fs +1 more)
Duplication
(frameshift variant)
Hereditary spastic paraplegia 11
GLikely pathogenic
SPG11
(Q2387H +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
SPG11
(Q2274fs +1 more)
Insertion
(frameshift variant)
Hereditary spastic paraplegia 11
Gnot provided
SPG11
(K2273E +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SPG11
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
(Y2385* +1 more)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 11
+1 more
GPathogenic
SPG11
(Y2385* +1 more)
Single nucleotide variant
(nonsense)
Amyotrophic lateral sclerosis type 5
+2 more
GPathogenic/Likely pathogenic
SPG11
(Y2272H +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
GUncertain significance
SPG11
Single nucleotide variant
(splice acceptor variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
Single nucleotide variant
(splice acceptor variant)
Hereditary spastic paraplegia 11
+1 more
GPathogenic/Likely pathogenic
SPG11
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 11
GConflicting classifications of pathogenicity
SPG11
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Insertion
(intron variant)
Hereditary spastic paraplegia
GUncertain significance
SPG11
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Duplication
(intron variant)
Hereditary spastic paraplegia 11
+4 more
GBenign/Likely benign
SPG11
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Duplication
(intron variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Deletion
(intron variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 11
GLikely benign
SPG11
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
SPG11
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SPG11
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 11
GLikely benign
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