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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OSGEP
(R280L)
Single nucleotide variant
(missense variant)
Galloway-Mowat syndrome 3
GLikely pathogenic
OSGEP
(S232Y)
Single nucleotide variant
(missense variant)
Galloway-Mowat syndrome 3
GLikely pathogenic