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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NPHP3, NPHP3-ACAD11
(G1275del)
Microsatellite
(non-coding transcript variant +1 more)
Nephronophthisis
+3 more
GPathogenic/Likely pathogenic
NPHP3, NPHP3-ACAD11
(R702*)
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+5 more
GPathogenic