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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
INVS
(G342R +2 more)
Single nucleotide variant
(missense variant +1 more)
Infantile nephronophthisis
+1 more
GUncertain significance
INVS
(E429K +2 more)
Single nucleotide variant
(missense variant +1 more)
Infantile nephronophthisis
+1 more
GUncertain significance
INVS
(Q465* +2 more)
Single nucleotide variant
(nonsense +1 more)
Infantile nephronophthisis
GLikely pathogenic
INVS
(V596L +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+1 more
GUncertain significance
INVS
(V653I +2 more)
Single nucleotide variant
(missense variant +1 more)
Infantile nephronophthisis
GUncertain significance
INVS
(N1061fs +2 more)
Duplication
(frameshift variant +1 more)
Nephronophthisis
+3 more
GConflicting classifications of pathogenicity
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