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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AXDND1, NPHS2
(S245L +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephrotic syndrome, type 2
+1 more
GUncertain significance
AXDND1, NPHS2
(R291W +1 more)
Single nucleotide variant
(missense variant +1 more)
Steroid-resistant nephrotic syndrome
+3 more
GPathogenic/Likely pathogenic
NPHS2
(R229Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
NPHS2
(D183Y)
Single nucleotide variant
(missense variant +1 more)
Nephrotic syndrome, type 2
GUncertain significance
NPHS2
(L156fs)
Duplication
(frameshift variant)
Nephrotic syndrome, type 2
+1 more
GConflicting classifications of pathogenicity
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