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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GJB3
(R235*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GConflicting classifications of pathogenicity
PCDH15
(E1468fs +8 more)
Duplication
(frameshift variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
GJB6
(L163fs)
Deletion
(frameshift variant)
Nonsyndromic Deafness
GLikely pathogenic
GJB6
(R108*)
Single nucleotide variant
(nonsense)
not specified
+1 more
GConflicting classifications of pathogenicity
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