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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AADAC, SLC33A1
+63 more
Copy number gain
Brachycephaly
+2 more
GPathogenic
GNB5
(S81L +2 more)
Single nucleotide variant
(missense variant)
Gnb5-related intellectual disability-cardiac arrhythmia syndrome
+2 more
GPathogenic