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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TMIE
(R92W +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 6
GConflicting classifications of pathogenicity
AMT, APEH
+177 more
Copy number gain
not provided
GPathogenic