C3275495[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 982926	NM_001291415.2(KDM6A):c.400T>C (p.Tyr134His)	KDM6A (Y134H)	Single nucleotide variant (missense variant +2 more)	Kabuki syndrome 2	GUncertain significance
Select item 1691857	NM_001291415.2(KDM6A):c.3682G>A (p.Val1228Ile)	KDM6A (V1097I +5 more)	Single nucleotide variant (missense variant +1 more)	Kabuki syndrome 2	GLikely pathogenic
Select item 2500339	NM_001291415.2(KDM6A):c.3773_3776dup (p.Tyr1260fs)	KDM6A (Y1129fs +6 more)	Duplication (frameshift variant +1 more)	Kabuki syndrome 2	GPathogenic

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