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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AXDND1, NPHS2
(R286fs +1 more)
Deletion
(frameshift variant +1 more)
Focal segmental glomerulosclerosis
+4 more
GPathogenic/Likely pathogenic
NPHS2
(R138Q)
Single nucleotide variant
(missense variant)
NPHS2-related disorder
+4 more
GPathogenic/Likely pathogenic