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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NPHP4
(L1320P +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis 4
GUncertain significance
NPHP4
(Y1214C +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis 4
GLikely pathogenic
NPHP4
(Q446*)
Single nucleotide variant
(5 prime UTR variant +2 more)
Nephronophthisis 4
GPathogenic
NPHP4
(Q265*)
Single nucleotide variant
(5 prime UTR variant +3 more)
Nephronophthisis 4
GPathogenic
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