"Diagnostic Laboratory, Strasbourg University Hospital"[submitter] AND - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 978873	NM_001197104.2(KMT2A):c.654_679delinsTTTACT (p.Glu219fs)	KMT2A (E219fs)	Indel (frameshift variant)	Intellectual disability	GPathogenic
Select item 978872	NM_001197104.2(KMT2A):c.1142dup (p.Ala383fs)	KMT2A (A383fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 978871	NM_001197104.2(KMT2A):c.3920dup (p.Gln1308fs)	KMT2A (Q1308fs)	Duplication (frameshift variant)	Intellectual disability	GPathogenic
Select item 978834	NM_001197104.2(KMT2A):c.4012+1del	KMT2A	Deletion (splice donor variant)	Intellectual disability	GLikely pathogenic
Select item 978869	NM_001197104.2(KMT2A):c.7975C>T (p.Arg2659Ter)	KMT2A (R2656* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability +2 more	GPathogenic
Select item 978835	NM_001197104.2(KMT2A):c.9440C>T (p.Ser3147Phe)	KMT2A (S3144F +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely pathogenic
Select item 978870	NM_001197104.2(KMT2A):c.9682C>T (p.Arg3228Cys)	KMT2A (R3225C +1 more)	Single nucleotide variant (missense variant)	Intellectual disability +1 more	GUncertain significance
Select item 978868	NM_001197104.2(KMT2A):c.9714_9735del (p.Pro3239fs)	KMT2A (P3236fs +1 more)	Deletion (frameshift variant)	Intellectual disability	GPathogenic

ClinVar