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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GJB2
(R143Q)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 1A
+2 more
GPathogenic/Likely pathogenic
GJB2
(Q124*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
GJB2
(T123N)
Single nucleotide variant
(missense variant)
not specified
+9 more
GBenign/Likely benign
GJB2
(C53F)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 1A
GLikely pathogenic
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