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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPG7
(G352fs)
Duplication
(frameshift variant)
not provided
+3 more
GPathogenic
SPG7
(R398*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
SPG7
Deletion
(splice acceptor variant)
Hereditary spastic paraplegia
+10 more
GPathogenic
SPG7
(A510V)
Single nucleotide variant
(missense variant)
Optic nerve hypoplasia
+12 more
GConflicting classifications of pathogenicity
SPG7
(H701P)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 7
GPathogenic/Likely pathogenic
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