U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DEAF1
(G223S)
Single nucleotide variant
(5 prime UTR variant +2 more)
Intellectual disability-epilepsy-extrapyramidal syndrome
+1 more
GConflicting classifications of pathogenicity
Complex
Setting-sun eye phenomenon
+16 more
GPathogenic
Inversion
Poor fine motor coordination
+4 more
GLikely pathogenic
Format
Sort by
Choose Destination