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Items: 6

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
(T193M +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KCNJ1
(R169S +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KCNJ1
(S72T +2 more)
Single nucleotide variant
(missense variant)
Bartter disease type 2
GUncertain significance
KCNJ1
(D27G +2 more)
Single nucleotide variant
(missense variant)
Bartter disease type 2
GUncertain significance
KCNJ1
(T15A +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
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