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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TRPC6
(L898V)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis 2
GUncertain significance
TRPC6
(M528I)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis 2
GUncertain significance
TRPC6
(S364fs)
Duplication
(frameshift variant)
Focal segmental glomerulosclerosis 2
GLikely pathogenic
TRPC6
(S123*)
Single nucleotide variant
(nonsense)
Focal segmental glomerulosclerosis 2
GLikely pathogenic
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