"ITMI"[submitter] AND "KDM6A"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 134594	NM_001291415.2(KDM6A):c.88G>A (p.Ala30Thr)	KDM6A (A30T)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GBenign
Select item 134601	NM_001291415.2(KDM6A):c.660A>T (p.Lys220Asn)	KDM6A (K220N)	Single nucleotide variant (missense variant +2 more)	Kabuki syndrome 2 +2 more	GUncertain significance
Select item 134595	NM_001291415.2(KDM6A):c.815A>G (p.Tyr272Cys)	KDM6A (Y272C +1 more)	Single nucleotide variant (missense variant +1 more)	Kabuki syndrome 2 +1 more	GUncertain significance
Select item 134596	NM_001291415.2(KDM6A):c.1999C>G (p.Leu667Val)	KDM6A (L667V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 134597	NM_001291415.2(KDM6A):c.2333C>A (p.Thr778Lys)	KDM6A (T778K +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 134598	NM_001291415.2(KDM6A):c.2888G>C (p.Ser963Thr)	KDM6A (S963T +5 more)	Single nucleotide variant (missense variant +1 more)	Kabuki syndrome 2	GBenign
Select item 134599	NM_001291415.2(KDM6A):c.3335A>T (p.His1112Leu)	KDM6A (H1112L +5 more)	Single nucleotide variant (missense variant +1 more)	Kabuki syndrome 2 +3 more	GBenign
Select item 134600	NM_001291415.2(KDM6A):c.4105A>T (p.Ile1369Phe)	KDM6A (I1369F +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided

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