U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATL1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
ATL1
(D43E)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 3A
Gnot provided
ATL1
Single nucleotide variant
(synonymous variant)
not provided
+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)
Inborn genetic diseases
+4 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)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
ATL1
(I507fs)
Duplication
(frameshift variant)
Hereditary spastic paraplegia 3A
GConflicting classifications of pathogenicity
Format
Items per page
Sort by
Choose Destination