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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TGFBR1
(G312S +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
PRXL2C, TBC1D2
+55 more
Deletion
Intellectual disability
GPathogenic