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Items: 2

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, SLC26A4-AS1
(E37*)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GPathogenic