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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TTC21B, TTC21B-AS1
(P209L)
Single nucleotide variant
(missense variant)
Jeune thoracic dystrophy
+8 more
GPathogenic/Likely pathogenic
ALG1
(S147L)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
NPHS1
(A806D)
Single nucleotide variant
(missense variant)
Finnish congenital nephrotic syndrome
+1 more
GPathogenic/Likely pathogenic
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