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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CPSF1
Single nucleotide variant
(splice acceptor variant)
Myopia 27
GPathogenic
CPSF1, MIR939
(D1275Y)
Single nucleotide variant
(non-coding transcript variant +1 more)
Myopia 27
GPathogenic
CPSF1
(V943fs)
Deletion
(frameshift variant)
not provided
GConflicting classifications of pathogenicity
CPSF1
(Q620*)
Single nucleotide variant
(nonsense)
Myopia 27
GPathogenic
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