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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TBC1D8B
(E7G)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 20
GUncertain significance
TBC1D8B
(R141*)
Single nucleotide variant
(nonsense)
Nephrotic syndrome, type 20
GLikely pathogenic