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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYO3A
(R562*)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 30
GPathogenic
MYO3A
(E578*)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 30
GPathogenic
MYO3A
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive nonsyndromic hearing loss 30
GLikely pathogenic
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