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Items: 1 to 100 of 390

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATL1, MAP4K5
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 3A
GLikely benign
ATL1, MAP4K5
(N9S)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 3A
GUncertain significance
ATL1, MAP4K5
(N9K)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 3A
+1 more
GConflicting classifications of pathogenicity
ATL1, MAP4K5
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
ATL1, MAP4K5
(W11C)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 3A
+1 more
GUncertain significance
ATL1, MAP4K5
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 3A
GUncertain significance
ATL1, MAP4K5
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 3A
GUncertain significance
ATL1, MAP4K5
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 3A
GUncertain significance
ATL1, MAP4K5
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 3A
GLikely benign
ATL1, MAP4K5
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 3A
GLikely benign
MAP4K5, ATL1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 3A
GLikely benign
ATL1, MAP4K5
Single nucleotide variant
(intron variant)
not specified
+1 more
GLikely benign
ATL1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 3A
GLikely benign
ATL1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 3A
GLikely benign
ATL1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 3A
GLikely benign
ATL1
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
ATL1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 3A
GLikely benign
ATL1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 3A
GLikely benign
ATL1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 3A
GLikely benign
ATL1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 3A
GUncertain significance
ATL1
Single nucleotide variant
(splice acceptor variant)
Hereditary spastic paraplegia 3A
GLikely pathogenic
ATL1
(G12D)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 3A
GUncertain significance
ATL1
(G13A)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 3A
GUncertain significance
ATL1
(S15L)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 3A
+1 more
GConflicting classifications of pathogenicity
ATL1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 3A
GLikely benign
ATL1
(E16Q)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 3A
GUncertain significance
ATL1
(E16D)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 3A
GUncertain significance
ATL1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 3A
GLikely benign
ATL1
(Y19N)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 3A
GUncertain significance
ATL1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 3A
GLikely benign
ATL1
(W21R)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 3A
GUncertain significance
ATL1
(E24Q)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 3A
+1 more
GConflicting classifications of pathogenicity
ATL1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia
+4 more
GBenign
ATL1
(V29A)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 3A
GUncertain significance
ATL1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 3A
GBenign
ATL1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 3A
GLikely benign
ATL1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 3A
GLikely benign
ATL1
(I39V)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 3A
GUncertain significance
ATL1
(D42V)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 3A
GUncertain significance
ATL1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 3A
GLikely benign
ATL1
(S45A)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 3A
GUncertain significance
ATL1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 3A
GLikely benign
ATL1
(R55W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ATL1
(R55Q)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 3A
+2 more
GUncertain significance
ATL1
(S59L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ATL1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 3A
GLikely benign
ATL1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 3A
GLikely benign
ATL1
(E60Q)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 3A
GUncertain significance
ATL1
(E60A)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 3A
GUncertain significance
ATL1
(A61V)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 3A
GUncertain significance
ATL1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 3A
GLikely benign
ATL1
(E66K)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 3A
GUncertain significance
ATL1
(E66Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
ATL1
(V67A)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 3A
GLikely benign
ATL1
(A69V)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 3A
GUncertain significance
ATL1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 3A
GLikely benign
ATL1
(D85G)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 3A
GUncertain significance
ATL1
(M87I)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 3A
+1 more
GUncertain significance
ATL1
(Y90H)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 3A
+1 more
GUncertain significance
ATL1
(M91V)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 3A
GUncertain significance
ATL1
(M91L)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 3A
GUncertain significance
ATL1
(Q94H)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 3A
GUncertain significance
ATL1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 3A
GUncertain significance
ATL1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 3A
GLikely benign
ATL1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 3A
GLikely benign
ATL1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 3A
GLikely benign
ATL1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 3A
GLikely benign
ATL1
Deletion
(intron variant)
Hereditary spastic paraplegia 3A
GLikely benign
ATL1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 3A
GLikely benign
ATL1
(D98G)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 3A
GUncertain significance
ATL1
(V100F)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 3A
GUncertain significance
ATL1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 3A
+1 more
GConflicting classifications of pathogenicity
ATL1
(D102E)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 1D
+3 more
GBenign/Likely benign
ATL1
(Y103C)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 3A
+1 more
GUncertain significance
ATL1
(N104S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ATL1
(P106R)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 3A
GUncertain significance
ATL1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 3A
GLikely benign
ATL1
(T108A)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 3A
+2 more
GConflicting classifications of pathogenicity
ATL1
(W112*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 3A
GPathogenic
ATL1
(G114V)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 3A
GUncertain significance
ATL1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 3A
GLikely benign
ATL1
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory, type 1D
+3 more
GBenign
ATL1
(R118Q)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 3A
+1 more
GConflicting classifications of pathogenicity
ATL1
(I125V)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 3A
GUncertain significance
ATL1
(I125M)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 3A
GUncertain significance
ATL1
(F130L)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 3A
+1 more
GUncertain significance
ATL1
(L131F)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 3A
GUncertain significance
ATL1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 3A
+2 more
GBenign/Likely benign
ATL1
(G137C)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 3A
+1 more
GUncertain significance
ATL1
(K138E)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 3A
GUncertain significance
ATL1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 3A
+3 more
GBenign/Likely benign
ATL1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 3A
GLikely benign
ATL1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 3A
+2 more
GBenign
ATL1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 3A
GLikely benign
ATL1
(A141S)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 3A
GUncertain significance
ATL1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 3A
GLikely benign
ATL1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 3A
GLikely benign
ATL1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 3A
GLikely benign
ATL1
(Q154R)
Single nucleotide variant
(missense variant)
Abnormal pyramidal sign
+1 more
GConflicting classifications of pathogenicity
ATL1
(S155P)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 3A
GUncertain significance
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