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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPG7
(L78*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
SPG7
Single nucleotide variant
(splice donor variant)
not provided
+2 more
GPathogenic/Likely pathogenic
SPG7
(R139*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 7
GPathogenic/Likely pathogenic
SPG7
(G249E)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 7
GUncertain significance
SPG7
(D700G)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 7
GUncertain significance
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