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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OTOG
(P842H +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
OTOG
(Q1976fs +1 more)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 18B
GLikely pathogenic