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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
(Q42* +1 more)
Single nucleotide variant
(nonsense +1 more)
Intellectual developmental disorder, autosomal recessive 68
GLikely pathogenic