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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALS2
(V1574fs)
Deletion
(frameshift variant)
Infantile-onset ascending hereditary spastic paralysis
GPathogenic
ALS2
Deletion
(nonsense +1 more)
Infantile-onset ascending hereditary spastic paralysis
GPathogenic
ALS2
(R998*)
Single nucleotide variant
(nonsense)
Infantile-onset ascending hereditary spastic paralysis
GPathogenic
ALS2
(N846fs)
Deletion
(frameshift variant +1 more)
Infantile-onset ascending hereditary spastic paralysis
GPathogenic
ALS2
(Q715*)
Single nucleotide variant
(nonsense)
Infantile-onset ascending hereditary spastic paralysis
GPathogenic
ALS2
Single nucleotide variant
(splice acceptor variant)
Infantile-onset ascending hereditary spastic paralysis
GPathogenic
ALS2
(L623fs)
Deletion
(genic downstream transcript variant +1 more)
Infantile-onset ascending hereditary spastic paralysis
GPathogenic
ALS2
Single nucleotide variant
(splice acceptor variant)
Infantile-onset ascending hereditary spastic paralysis
GPathogenic
ALS2
(I336fs)
Deletion
(frameshift variant)
Infantile-onset ascending hereditary spastic paralysis
GPathogenic
ALS2
(C157Y)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
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