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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYO7A
(R675C +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
MYO7A
Single nucleotide variant
(splice acceptor variant)
not provided
+4 more
GPathogenic
MYO7A
(R842C +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 11
+1 more
GPathogenic/Likely pathogenic
MYO7A
(R972* +1 more)
Single nucleotide variant
(nonsense)
Autosomal dominant nonsyndromic hearing loss 11
+3 more
GPathogenic/Likely pathogenic
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