U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DIAPH1
(D1030fs +1 more)
Duplication
(frameshift variant)
Neonatal seizure
GLikely pathogenic
DIAPH1
(R1155* +1 more)
Single nucleotide variant
(nonsense)
Neonatal seizure
GLikely pathogenic