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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126861538, MYO1A
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
LOC126861538, MYO1A
(R93*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GConflicting classifications of pathogenicity
LOC126861538, MYO1A
(A79S)
Single nucleotide variant
(missense variant)
MYO1A-related disorder
GBenign
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