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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NUP107
(D157Y +1 more)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 11
GLikely pathogenic
NUP107
(R165* +1 more)
Single nucleotide variant
(nonsense)
Nephrotic syndrome, type 11
GLikely pathogenic
NUP107
(S246del +1 more)
Deletion
(inframe_deletion)
Nephrotic syndrome, type 11
GUncertain significance
NUP107
(D831A +1 more)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 11
GPathogenic
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