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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYO7A
(Y549C +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1
+1 more
GPathogenic/Likely pathogenic
MYO7A
(R2024* +2 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 2
+4 more
GPathogenic