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
KCNJ11
(R201H +1 more)
Single nucleotide variant
(missense variant)
Diabetes mellitus, permanent neonatal 2
+4 more
GConflicting classifications of pathogenicity
KCNJ11
(R54fs)
Duplication
(frameshift variant +1 more)
Diabetes mellitus, permanent neonatal 2
GLikely pathogenic