"Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes"[ - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 916111	NM_001197104.2(KMT2A):c.865A>T (p.Lys289Ter)	KMT2A (K289*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2627847	NM_001197104.2(KMT2A):c.4524G>C (p.Glu1508Asp)	KMT2A (E1508D +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 1064779	NM_001197104.2(KMT2A):c.4696G>A (p.Gly1566Arg)	KMT2A (G1566R)	Single nucleotide variant (missense variant)	Wiedemann-Steiner syndrome +2 more	GLikely pathogenic
Select item 545047	NM_001197104.2(KMT2A):c.5005-2A>G	KMT2A	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2627878	NM_001197104.2(KMT2A):c.9449del (p.Pro3150fs)	KMT2A (P3147fs +2 more)	Deletion (frameshift variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 1701833	NM_001197104.2(KMT2A):c.9847C>T (p.Arg3283Ter)	KMT2A (R3280* +1 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder +1 more	GPathogenic/Likely pathogenic
Select item 2627864	NM_001197104.2(KMT2A):c.11430-250_11643+240del	KMT2A, TTC36-AS1	Deletion (splice acceptor variant +1 more)	Neurodevelopmental disorder	GLikely pathogenic

ClinVar