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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC26A4, SLC26A4-AS1
(E15fs)
Deletion
(non-coding transcript variant +1 more)
Deafness
+1 more
GPathogenic/Likely pathogenic
SLC26A4, SLC26A4-AS1
(R24L)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hearing loss, autosomal recessive
GLikely pathogenic
SLC26A4, SLC26A4-AS1
(K52*)
Single nucleotide variant
(non-coding transcript variant +1 more)
Deafness
+1 more
GPathogenic/Likely pathogenic
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