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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IGF1R
(C488W)
Single nucleotide variant
(missense variant)
Growth delay due to insulin-like growth factor I resistance
+1 more
GConflicting classifications of pathogenicity
SPDL1, TENM2
+37 more
Copy number loss
Atrial septal defect 7
GPathogenic