U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPG11
(L1794P)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
+7 more
GConflicting classifications of pathogenicity
SPG11
(Q716*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 11
+2 more
GPathogenic/Likely pathogenic