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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AVIL, TSFM
(F656fs)
Duplication
(frameshift variant +1 more)
Nephrotic syndrome, type 21
GUncertain significance
AVIL
(R446H)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 21
+1 more
GPathogenic
AVIL
(L425M)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 21
+1 more
GPathogenic
AVIL
(R135Q)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 21
GLikely pathogenic
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