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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYH2, MYHAS
(S1716R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH2, MYHAS
(S872*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
MYH2, MYHAS
(G642fs)
Deletion
(frameshift variant)
not provided
GPathogenic
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