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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PPM1D
(Q462*)
Single nucleotide variant
(nonsense)
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
GLikely pathogenic
PPM1D
(R552*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GConflicting classifications of pathogenicity