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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NPHP3, NPHP3-ACAD11
(W587*)
Single nucleotide variant
(non-coding transcript variant +1 more)
Renal-hepatic-pancreatic dysplasia 1
GLikely pathogenic
NPHP3, NPHP3-ACAD11
+2 more
(G24fs)
Deletion
(non-coding transcript variant +1 more)
Renal-hepatic-pancreatic dysplasia 1
GPathogenic