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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TMC1
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
TMC1
Single nucleotide variant
(intron variant)
Nonsyndromic Hearing Loss, Dominant
+3 more
GConflicting classifications of pathogenicity
TMC1
(S647P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
TMC1
(R744*)
Single nucleotide variant
(nonsense)
not specified
+1 more
GUncertain significance
TMC1
(A749S)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 36
+2 more
GUncertain significance
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