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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIDD1
(H248Q)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly
GUncertain significance
PIDD1
(G26R)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly
GUncertain significance