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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TMC1
(A79V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TMC1
(L367R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TMC1
(W588*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
TMC1
(R744*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GUncertain significance
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