CN030661[trait identifier] AND "MGZ Medical Genetics Center"[submitter - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 445885	NM_003482.4(KMT2D):c.15088C>T (p.Arg5030Cys)	KMT2D (R5030C)	Single nucleotide variant (missense variant)	Kabuki syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1709972	NM_003482.4(KMT2D):c.12992C>A (p.Pro4331His)	KMT2D (P4331H)	Single nucleotide variant (missense variant)	Kabuki syndrome 1	GUncertain significance
Select item 372805	NM_003482.4(KMT2D):c.12844C>T (p.Arg4282Ter)	KMT2D (R4282*)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic OLikely oncogenic
Select item 1709077	NM_003482.4(KMT2D):c.10993C>T (p.Pro3665Ser)	KMT2D (P3665S)	Single nucleotide variant (missense variant)	Kabuki syndrome 1	GUncertain significance
Select item 1709675	NM_003482.4(KMT2D):c.10357C>G (p.Gln3453Glu)	KMT2D (Q3453E)	Single nucleotide variant (missense variant)	Kabuki syndrome 1	GUncertain significance
Select item 1709251	NM_003482.4(KMT2D):c.5857C>G (p.Leu1953Val)	KMT2D (L1953V)	Single nucleotide variant (missense variant)	Kabuki syndrome 1	GUncertain significance
Select item 1709061	NM_003482.4(KMT2D):c.177-1G>A	KMT2D	Single nucleotide variant (splice acceptor variant)	Kabuki syndrome 1	GPathogenic

ClinVar