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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AXDND1, NPHS2
(P248R +1 more)
Single nucleotide variant
(missense variant +1 more)
Focal segmental glomerulosclerosis
GUncertain significance
AXDND1, NPHS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign/Likely benign
AXDND1, NPHS2
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign/Likely benign
AXDND1, NPHS2
(R286fs +1 more)
Deletion
(frameshift variant +1 more)
Focal segmental glomerulosclerosis
+3 more
GPathogenic/Likely pathogenic
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