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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNQ4
(L47P)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 2A
GPathogenic
KCNQ4
Deletion
(inframe_deletion)
Autosomal dominant nonsyndromic hearing loss 2A
GPathogenic
KCNQ4
(D266Y)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 2A
GPathogenic
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