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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC12A1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
SLC12A1
(Y748fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
SLC12A1
(V913F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC12A1
(G920E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC12A1
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
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