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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TMC1
(E118*)
Single nucleotide variant
(nonsense)
Hearing impairment
+1 more
GPathogenic
TMC1
(P274L)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 7
+2 more
GConflicting classifications of pathogenicity