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
AFG3L2, TUBB6
(L772I)
Single nucleotide variant
(missense variant +1 more)
Spastic ataxia 5
+3 more
GUncertain significance
AFG3L2
(M666V)
Single nucleotide variant
(missense variant)
Spastic ataxia 5
+3 more
GPathogenic/Likely pathogenic