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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
INVS
(Q109* +1 more)
Single nucleotide variant
(nonsense +2 more)
Infantile nephronophthisis
GPathogenic
INVS
(H164Y +1 more)
Single nucleotide variant
(missense variant +2 more)
Infantile nephronophthisis
GLikely pathogenic