"Department of Genetics, Rouen University Hospital, Normandy Center fo - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2430043	NM_170606.3(KMT2C):c.14707G>T (p.Ala4903Ser)	KMT2C (A4903S)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2336829	NM_170606.3(KMT2C):c.13040C>T (p.Pro4347Leu)	KMT2C (P4347L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2430047	NM_170606.3(KMT2C):c.11670+1G>C	KMT2C	Single nucleotide variant (splice donor variant)	Autism spectrum disorder	GLikely benign
Select item 984613	NM_170606.3(KMT2C):c.8649del (p.Arg2884fs)	KMT2C (R2884fs)	Deletion (frameshift variant)	Autism spectrum disorder	GPathogenic
Select item 2430045	NM_170606.3(KMT2C):c.6902A>C (p.Gln2301Pro)	KMT2C (Q2301P)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2430044	NM_170606.3(KMT2C):c.5716C>T (p.Arg1906Ter)	KMT2C (R1906*)	Single nucleotide variant (nonsense)	Kleefstra syndrome 2	GPathogenic
Select item 2430048	NM_170606.3(KMT2C):c.4337G>A (p.Gly1446Glu)	KMT2C (G1446E)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2430085	NM_170606.3(KMT2C):c.817G>A (p.Val273Met)	KMT2C (V273M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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