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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLCNKB, LOC106501713
(Q79R)
Single nucleotide variant
(missense variant)
Bartter disease type 3
GUncertain significance
CLCNKB, LOC106501713
(W234R +1 more)
Single nucleotide variant
(missense variant)
Bartter disease type 3
+3 more
GConflicting classifications of pathogenicity
CLCNKB, LOC106501713
Duplication
(nonsense)
Bartter disease type 3
+3 more
GPathogenic/Likely pathogenic
CLCNKB, LOC106501713
(Y297fs +1 more)
Deletion
(frameshift variant)
Bartter disease type 3
+2 more
GPathogenic
CLCNKB, LOC106501713
(A408T +1 more)
Single nucleotide variant
(missense variant)
Bartter disease type 3
+1 more
GBenign
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