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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AXDND1, NPHS2
(N355S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
AXDND1, NPHS2
(A240V +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephrotic syndrome, type 2
GLikely pathogenic
AXDND1, NPHS2
(E264Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
NPHS2
(R229Q)
Single nucleotide variant
(missense variant +1 more)
Focal segmental glomerulosclerosis
+6 more
GConflicting classifications of pathogenicity
NPHS2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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