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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATAD1, ACTA2
+151 more
Copy number gain
See cases
GPathogenic
MINPP1
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC126860990, MINPP1
(S267fs +1 more)
Deletion
(3 prime UTR variant +1 more)
not provided
GLikely pathogenic
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