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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KAT6B
(R1002fs +7 more)
Insertion
(frameshift variant)
Genitopatellar syndrome
GLikely pathogenic
KAT6B
Single nucleotide variant
(intron variant)
Blepharophimosis - intellectual disability syndrome, SBBYS type
+1 more
GConflicting classifications of pathogenicity