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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYO7A
(Q1336* +1 more)
Single nucleotide variant
(nonsense)
not provided
+4 more
GPathogenic/Likely pathogenic
MYO7A
(Y2035* +2 more)
Single nucleotide variant
(nonsense)
Usher syndrome type 1
GLikely pathogenic