U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CEP290
Single nucleotide variant
(intron variant)
Occipital encephalocele
+1 more
GLikely pathogenic
DNAI3
Deletion
Occipital encephalocele
GLikely pathogenic
CEP290
(Q1628*)
Single nucleotide variant
(nonsense)
Cystic renal dysplasia
+13 more
GPathogenic
CEP290
(R1465*)
Single nucleotide variant
(nonsense)
Occipital encephalocele
+9 more
GPathogenic
Format
Sort by
Choose Destination