"Molecular Genetics, Royal Melbourne Hospital"[submitter] AND "KDM6B"[ - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 254122	NM_001348716.2(KDM6B):c.753ACC[15] (p.Pro263_Pro264dup)	KDM6B	Microsatellite (inframe_insertion)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities +1 more	GBenign/Likely benign
Select item 218502	NM_001348716.2(KDM6B):c.753ACC[11] (p.Pro263_Pro264del)	KDM6B	Microsatellite (inframe_deletion)	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities +2 more	GBenign