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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AVIL, TSFM
(N750K)
Single nucleotide variant
(missense variant +1 more)
Nephrotic syndrome, type 21
GUncertain significance
AVIL
(L272fs)
Duplication
(frameshift variant)
Nephrotic syndrome, type 21
GUncertain significance
AVIL
(R135Q)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 21
GLikely pathogenic
AVIL
Single nucleotide variant
(intron variant)
Nephrotic syndrome, type 21
GUncertain significance
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