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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126862361, SLC12A3
(L977S +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LOC126862361, SLC12A3
(G989R +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
LOC126862361, SLC12A3
(C994Y +2 more)
Single nucleotide variant
(missense variant)
Familial hypokalemia-hypomagnesemia
+1 more
GConflicting classifications of pathogenicity
LOC126862361, SLC12A3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
LOC126862361, SLC12A3
(S997L +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
LOC126862361, SLC12A3
(R1009* +2 more)
Single nucleotide variant
(nonsense)
Familial hypokalemia-hypomagnesemia
+1 more
GPathogenic
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