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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PUS7
(T387M +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PUS7
Single nucleotide variant
(splice donor variant)
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
+1 more
GConflicting classifications of pathogenicity