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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC26A4, SLC26A4-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
SLC26A4, SLC26A4-AS1
(P10T)
Single nucleotide variant
not specified
+4 more
GConflicting classifications of pathogenicity
SLC26A4, SLC26A4-AS1
(S23*)
Single nucleotide variant
(non-coding transcript variant +1 more)
Rare genetic deafness
+2 more
GPathogenic/Likely pathogenic
SLC26A4-AS1, SLC26A4
(S49R)
Single nucleotide variant
(missense variant +1 more)
Pendred syndrome
GLikely benign
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