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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNJ1
(L218F +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
KCNJ1
Indel
(missense variant)
Bartter disease type 2
GLikely pathogenic
KCNJ1
(W80* +2 more)
Single nucleotide variant
(nonsense)
Bartter disease type 2
GLikely pathogenic
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