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Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC26A5
Single nucleotide variant
(synonymous variant +2 more)
not provided
GUncertain significance
SLC26A5
(Q648H +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GConflicting classifications of pathogenicity
SLC26A5
(E610K +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GConflicting classifications of pathogenicity
SLC26A5
(T605A +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+1 more
GBenign/Likely benign
SLC26A5
Single nucleotide variant
(synonymous variant +2 more)
not specified
+1 more
GBenign/Likely benign
SLC26A5
(T470N +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
SLC26A5
Single nucleotide variant
(synonymous variant +2 more)
not specified
+1 more
GBenign/Likely benign
SLC26A5
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SLC26A5
(V259M)
Single nucleotide variant
(missense variant +1 more)
Hearing impairment
+1 more
GUncertain significance
SLC26A5
Duplication
(intron variant)
not specified
+1 more
GBenign/Likely benign
SLC26A5
(L46P)
Single nucleotide variant
(missense variant +1 more)
SLC26A5-related condition
+3 more
GBenign/Likely benign
SLC26A5
Single nucleotide variant
(synonymous variant +1 more)
not provided
GConflicting classifications of pathogenicity
SLC26A5
Single nucleotide variant
(splice acceptor variant)
not specified
+2 more
GBenign/Likely benign
SLC26A5
Single nucleotide variant
not provided
GUncertain significance
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