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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATL1
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory, type 1D
+4 more
GBenign
ATL1
(D43E)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 3A
Gnot provided
ATL1
Single nucleotide variant
(synonymous variant)
Neuropathy, hereditary sensory, type 1D
+3 more
GBenign
ATL1
(T156I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
ATL1
(L157W)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 3A
GPathogenic
ATL1
(F193C)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 3A
Gnot provided
ATL1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 3A
+5 more
GBenign/Likely benign
ATL1
(R239C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
ATL1
(H258R)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 3A
GPathogenic
ATL1
(M408V)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 3A
GPathogenic
ATL1
(R415W)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 3A
+2 more
GPathogenic/Likely pathogenic
ATL1
(I507fs)
Duplication
(frameshift variant)
Hereditary spastic paraplegia 3A
GConflicting classifications of pathogenicity
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