"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 225024	NM_001348716.2(KDM6B):c.625G>T (p.Val209Leu)	KDM6B (V209L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1206219	NM_001348716.2(KDM6B):c.753ACC[14] (p.Pro264dup)	KDM6B	Microsatellite (inframe_insertion)	KDM6B-related condition	GBenign
Select item 1206109	NM_001348716.2(KDM6B):c.753ACC[16] (p.Pro262_Pro264dup)	KDM6B	Microsatellite (inframe_insertion)	not provided +1 more	GBenign
Select item 1300010	NM_001348716.2(KDM6B):c.753ACC[12] (p.Pro264del)	KDM6B (P264del)	Microsatellite (inframe_deletion)	KDM6B-related condition	GBenign
Select item 1174808	NM_001348716.2(KDM6B):c.753ACC[10] (p.Pro262_Pro264del)	KDM6B	Microsatellite (inframe_deletion)	KDM6B-related condition +1 more	GBenign
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
Select item 1206380	NM_001348716.2(KDM6B):c.1538G>C (p.Arg513Pro)	KDM6B (R513P)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 712117	NM_001348716.2(KDM6B):c.1925C>T (p.Pro642Leu)	KDM6B (P642L)	Single nucleotide variant (missense variant)	KDM6B-related condition +1 more	GBenign/Likely benign
Select item 1206224	NM_001348716.2(KDM6B):c.2686A>C (p.Thr896Pro)	KDM6B (T896P)	Single nucleotide variant (missense variant)	not provided	GBenign