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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NPHP3, NPHP3-ACAD11
(R1207*)
Single nucleotide variant
(non-coding transcript variant +1 more)
NPHP3-related Meckel-like syndrome
+1 more
GPathogenic
NPHP3, NPHP3-ACAD11
Deletion
(splice acceptor variant)
Renal-hepatic-pancreatic dysplasia 1
+4 more
GPathogenic/Likely pathogenic
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
+3 more
GConflicting classifications of pathogenicity
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