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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CTXN2-AS1, SLC12A1
(E281D)
Single nucleotide variant
(missense variant)
Bartter disease type 1
GLikely pathogenic
SLC12A1
(F388fs)
Deletion
(frameshift variant)
not provided
GPathogenic