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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AGTR1
(R139*)
Single nucleotide variant
(nonsense)
Renal tubular dysgenesis of genetic origin
GPathogenic/Likely pathogenic
AADAC, SLC33A1
+63 more
Copy number gain
Brachycephaly
+2 more
GPathogenic