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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
XPNPEP3
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
XPNPEP3
(R415Q)
Single nucleotide variant
(missense variant)
Nephronophthisis-like nephropathy 1
+1 more
GUncertain significance