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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPINK1
(N34S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity; association; risk factor
NPHS1
(R835T)
Single nucleotide variant
(missense variant)
Finnish congenital nephrotic syndrome
+1 more
GUncertain significance
NPHS1
(L334P)
Single nucleotide variant
(missense variant)
Finnish congenital nephrotic syndrome
GLikely pathogenic
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