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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
INVS
Single nucleotide variant
(5 prime UTR variant +2 more)
Nephronophthisis
+1 more
GBenign
INVS
(L101F +1 more)
Single nucleotide variant
(missense variant +2 more)
Nephronophthisis
+2 more
GUncertain significance
INVS
(N247S +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+4 more
GBenign/Likely benign
INVS
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
+2 more
GBenign/Likely benign
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