CN030661[trait identifier] AND "Centre de Biologie Pathologie Génétiqu - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 562047	NM_003482.4(KMT2D):c.16019G>A (p.Arg5340Gln)	KMT2D (R5340Q)	Single nucleotide variant (missense variant)	Kabuki syndrome 1 +2 more	GPathogenic/Likely pathogenic
Select item 1700053	NM_003482.4(KMT2D):c.10552C>T (p.Gln3518Ter)	KMT2D (Q3518*)	Single nucleotide variant (nonsense)	Kabuki syndrome 1	GPathogenic
Select item 975419	NM_003482.4(KMT2D):c.6302C>T (p.Ala2101Val)	KMT2D (A2101V)	Single nucleotide variant (missense variant)	Kabuki syndrome 1	GLikely pathogenic
Select item 521015	NM_003482.4(KMT2D):c.6295C>T (p.Arg2099Ter)	KMT2D (R2099*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +4 more	GPathogenic
Select item 975422	NM_003482.4(KMT2D):c.4168del (p.Ala1390fs)	KMT2D (A1390fs)	Deletion (frameshift variant)	Kabuki syndrome 1	GPathogenic
Select item 975421	NM_003482.4(KMT2D):c.3761A>C (p.Glu1254Ala)	KMT2D, LOC126861520 (E1254A)	Single nucleotide variant (missense variant)	Kabuki syndrome 1	GLikely pathogenic
Select item 547406	NM_003482.4(KMT2D):c.2209C>T (p.Arg737Trp)	KMT2D (R737W)	Single nucleotide variant (missense variant)	Kabuki syndrome 1 +1 more	GBenign/Likely benign
Select item 975423	NM_003482.4(KMT2D):c.538_539insA (p.Ala180fs)	KMT2D (A180fs)	Insertion (frameshift variant)	Kabuki syndrome 1	GPathogenic

ClinVar