"Centogene AG - the Rare Disease Company"[submitter] AND "KAT6B"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1333964	NM_012330.4(KAT6B):c.3004_3005insTTAGC (p.Arg1002fs)	KAT6B (R1002fs +7 more)	Insertion (frameshift variant)	Genitopatellar syndrome	GLikely pathogenic
Select item 1313431	NM_012330.4(KAT6B):c.3022-5C>G	KAT6B	Single nucleotide variant (intron variant)	Blepharophimosis - intellectual disability syndrome, SBBYS type +1 more	GConflicting classifications of pathogenicity