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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NPHP4
(D1413fs +2 more)
Deletion
(frameshift variant +1 more)
Nephronophthisis 4
GPathogenic
NPHP4
(Q1021fs +2 more)
Deletion
(frameshift variant +1 more)
Nephronophthisis 4
GLikely pathogenic
NPHP4
(T680M +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
NPHP4
(R488*)
Single nucleotide variant
(nonsense +2 more)
not provided
+3 more
GConflicting classifications of pathogenicity
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