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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYO7A
(L1837P +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
MYO7A
(Q2208* +2 more)
Single nucleotide variant
(nonsense)
not specified
+2 more
GConflicting classifications of pathogenicity