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
CEP290
(L1909*)
Single nucleotide variant
(nonsense)
CEP290-related disorder
GPathogenic
CEP290
(Q123*)
Single nucleotide variant
(nonsense)
Nephronophthisis
+8 more
GPathogenic