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Items: 28

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC12A3
Single nucleotide variant
(synonymous variant)
Familial hypokalemia-hypomagnesemia
+1 more
GConflicting classifications of pathogenicity
SLC12A3
Single nucleotide variant
(synonymous variant)
Familial hypokalemia-hypomagnesemia
+2 more
GBenign
SLC12A3
(W171R +1 more)
Single nucleotide variant
(missense variant)
Familial hypokalemia-hypomagnesemia
+1 more
GPathogenic/Likely pathogenic
SLC12A3
(A264G +1 more)
Single nucleotide variant
(missense variant)
Familial hypokalemia-hypomagnesemia
+2 more
GBenign
SLC12A3
(L272P +1 more)
Single nucleotide variant
(missense variant)
Familial hypokalemia-hypomagnesemia
+1 more
GPathogenic/Likely pathogenic
SLC12A3
(R320W +1 more)
Single nucleotide variant
(missense variant)
SLC12A3-related disorder
+2 more
GPathogenic/Likely pathogenic
SLC12A3
(G439S +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
SLC12A3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC12A3
(G463R +1 more)
Single nucleotide variant
(missense variant)
Familial hypokalemia-hypomagnesemia
+1 more
GPathogenic/Likely pathogenic
SLC12A3
Single nucleotide variant
(synonymous variant)
Familial hypokalemia-hypomagnesemia
+2 more
GBenign
SLC12A3
Single nucleotide variant
(intron variant)
not provided
GBenign
SLC12A3
Single nucleotide variant
(intron variant)
Familial hypokalemia-hypomagnesemia
+2 more
GBenign
SLC12A3
Single nucleotide variant
(intron variant)
Familial hypokalemia-hypomagnesemia
+2 more
GBenign
SLC12A3
Single nucleotide variant
(synonymous variant)
Familial hypokalemia-hypomagnesemia
+2 more
GBenign
SLC12A3
(P643L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
SLC12A3
Single nucleotide variant
(synonymous variant)
Familial hypokalemia-hypomagnesemia
+2 more
GBenign
SLC12A3
Single nucleotide variant
(intron variant)
Familial hypokalemia-hypomagnesemia
+2 more
GBenign
SLC12A3
(A728T +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
SLC12A3
(L850P +2 more)
Single nucleotide variant
(missense variant)
Familial hypokalemia-hypomagnesemia
+3 more
GPathogenic/Likely pathogenic
SLC12A3
Single nucleotide variant
(synonymous variant)
Familial hypokalemia-hypomagnesemia
+2 more
GBenign
SLC12A3
(R913Q +2 more)
Single nucleotide variant
(missense variant)
Familial hypokalemia-hypomagnesemia
+2 more
GBenign
SLC12A3
Single nucleotide variant
(intron variant)
Familial hypokalemia-hypomagnesemia
+2 more
GBenign
SLC12A3
(R928C +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
SLC12A3
Single nucleotide variant
(splice donor variant)
Familial hypokalemia-hypomagnesemia
+1 more
GPathogenic/Likely pathogenic
SLC12A3
Single nucleotide variant
(intron variant)
Familial hypokalemia-hypomagnesemia
+2 more
GBenign
SLC12A3
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
SLC12A3
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
LOC126862361, SLC12A3
(G989R +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
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