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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC26A4, SLC26A4-AS1
(E29Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
Rare genetic deafness
+4 more
GPathogenic/Likely pathogenic
SLC26A4
(V239D)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 4
+3 more
GConflicting classifications of pathogenicity
SLC26A4
(F335L)
Single nucleotide variant
(missense variant)
Pendred syndrome
GLikely pathogenic
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