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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PPM1D
(V408fs)
Insertion
(frameshift variant)
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
GLikely pathogenic
PPM1D
(P417fs)
Insertion
(frameshift variant)
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
GLikely pathogenic