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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TMC1
(W315*)
Single nucleotide variant
(nonsense)
Hearing loss, autosomal recessive
+1 more
GPathogenic/Likely pathogenic
TMC1
(W403*)
Single nucleotide variant
(nonsense)
Hearing loss, autosomal recessive
+1 more
GPathogenic/Likely pathogenic
TMC1
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
TMC1
(N576K)
Single nucleotide variant
(missense variant)
Deafness
+1 more
GPathogenic/Likely pathogenic
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