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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AXDND1, NPHS2
(F276fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
AXDND1, NPHS2
(R322Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephrotic syndrome, type 2
GConflicting classifications of pathogenicity
NPHS2, AXDND1
(R322* +1 more)
Single nucleotide variant
(nonsense +1 more)
Idiopathic nephrotic syndrome
+2 more
GConflicting classifications of pathogenicity
AXDND1, NPHS2
(E242K +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
AXDND1, NPHS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
AXDND1, NPHS2
(R291W +1 more)
Single nucleotide variant
(missense variant +1 more)
Steroid-resistant nephrotic syndrome
+3 more
GPathogenic/Likely pathogenic
AXDND1, NPHS2
(V290M +1 more)
Single nucleotide variant
(missense variant +1 more)
NPHS2-related disorder
+2 more
GPathogenic/Likely pathogenic
AXDND1, NPHS2
(A284V +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephrotic syndrome, type 2
+2 more
GPathogenic/Likely pathogenic
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