"GeneDx"[submitter] AND "LOC130068183"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59265	GRCh38/hg38 Xp11.4-11.23(chrX:41434043-47880733)x1	ARAF, CASK +152 more	Copy number loss	See cases	GPathogenic
Select item 145136	GRCh38/hg38 Xp11.3(chrX:44387905-45242671)x2	DIPK2B, DUSP21 +14 more	Copy number gain	See cases	GUncertain significance
Select item 1329722	NM_001291415.2(KDM6A):c.149G>A (p.Gly50Asp)	KDM6A, LOC130068183 (G50D)	Single nucleotide variant (missense variant +2 more)	Kabuki syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 2582031	NM_001291415.2(KDM6A):c.160A>G (p.Ser54Gly)	KDM6A, LOC130068183 (S54G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1289006	NM_001291415.2(KDM6A):c.162-34A>T	KDM6A, LOC130068183	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1341614	NM_001291415.2(KDM6A):c.162-12_162-11del	KDM6A, LOC130068183	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3364929	NM_001291415.2(KDM6A):c.164G>T (p.Arg55Leu)	KDM6A, LOC130068183 (R55L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance

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