"Revvity Omics, Revvity"[submitter] AND "KDM6A"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2433071	NM_001291415.2(KDM6A):c.43G>A (p.Ala15Thr)	KDM6A (A15T)	Single nucleotide variant (missense variant +2 more)	Kabuki syndrome 2	GUncertain significance
Select item 2689301	NM_001291415.2(KDM6A):c.613G>T (p.Ala205Ser)	KDM6A (A205S)	Single nucleotide variant (missense variant +2 more)	Kabuki syndrome 2	GUncertain significance
Select item 2440973	NM_001291415.2(KDM6A):c.2067dup (p.Asn690Ter)	KDM6A (N342* +5 more)	Duplication (nonsense +2 more)	Kabuki syndrome 2	GLikely pathogenic
Select item 2433070	NM_001291415.2(KDM6A):c.2090A>G (p.Lys697Arg)	KDM6A (K349R +6 more)	Single nucleotide variant (missense variant +1 more)	Kabuki syndrome 2	GUncertain significance
Select item 2433069	NM_001291415.2(KDM6A):c.2543C>T (p.Thr848Ile)	KDM6A (T500I +6 more)	Single nucleotide variant (missense variant +1 more)	Kabuki syndrome 2	GUncertain significance
Select item 2436899	NM_001291415.2(KDM6A):c.3300+1del	KDM6A	Deletion (splice donor variant)	Kabuki syndrome 2	GPathogenic
Select item 1324613	NM_001291415.2(KDM6A):c.3793C>T (p.Arg1265Ter)	KDM6A (R1134* +5 more)	Single nucleotide variant (nonsense +1 more)	Kabuki syndrome 2 +1 more	GPathogenic/Likely pathogenic

ClinVar