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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC26A4
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+5 more
GConflicting classifications of pathogenicity
SLC26A4
Single nucleotide variant
(splice acceptor variant)
Pendred syndrome
GPathogenic
LOC123956210, SLC26A4
(H723R)
Single nucleotide variant
(missense variant)
Rare genetic deafness
+4 more
GPathogenic/Likely pathogenic
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