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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GJB4
(V37M)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 1A
+2 more
GConflicting classifications of pathogenicity
GJB2
(M195V)
Single nucleotide variant
(missense variant)
Nonsyndromic genetic hearing loss
GPathogenic
GJB2
(L79fs)
Deletion
Nonsyndromic genetic hearing loss
GPathogenic
GJB6
(E101K)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 1B
+5 more
GConflicting classifications of pathogenicity
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