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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DIAPH1
Inversion
(splice acceptor variant +1 more)
Macrothrombocytopenia
GLikely pathogenic
DIAPH1
(A1210fs +1 more)
Deletion
(frameshift variant)
Hearing impairment
+1 more
GLikely pathogenic