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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC12A3
(M233V +1 more)
Single nucleotide variant
(missense variant)
Familial hypokalemia-hypomagnesemia
GUncertain significance
SLC12A3
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
SLC12A3
(V397M +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SLC12A3
(A477T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC12A3
Single nucleotide variant
(synonymous variant)
SLC12A3-related disorder
+1 more
GLikely benign
SLC12A3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC12A3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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