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
CYP7B1
(P441L)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
+1 more
GUncertain significance
MCOLN1
(G293R)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 5A
GUncertain significance