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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OSGEP
(R247Q)
Single nucleotide variant
(missense variant)
Galloway-Mowat syndrome 3
+1 more
GPathogenic
OSGEP
(R186*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GLikely pathogenic