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
TRMT1
(Y409fs +3 more)
Deletion
(frameshift variant)
Intellectual developmental disorder, autosomal recessive 68
GPathogenic
TRMT1
(R323C +2 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder, autosomal recessive 68
+1 more
GLikely pathogenic