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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIDD1
(R682C)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly
+1 more
GConflicting classifications of pathogenicity
PIDD1
Single nucleotide variant
(splice acceptor variant)
Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly
+4 more
GConflicting classifications of pathogenicity