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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(non-coding transcript variant +1 more)
NPHP3-related disorder
+2 more
GPathogenic/Likely pathogenic
NPHP3, NPHP3-ACAD11
(H883fs)
Deletion
(non-coding transcript variant +1 more)
NPHP3-related disorder
GLikely pathogenic
NPHP3, NPHP3-ACAD11
(E212fs)
Duplication
(non-coding transcript variant +1 more)
Nephronophthisis
+5 more
GPathogenic/Likely pathogenic
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