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
ABHD12, LOC126863008
Single nucleotide variant
(splice acceptor variant)
Retinal dystrophy
+1 more
GLikely pathogenic
ABHD12
(R65*)
Single nucleotide variant
(nonsense)
Retinal dystrophy
GPathogenic