"Equipe Genetique des Anomalies du Developpement, Université de Bourgo - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 802796	NM_001197104.2(KMT2A):c.502+1G>A	KMT2A	Single nucleotide variant (splice donor variant)	Wiedemann-Steiner syndrome +1 more	GPathogenic
Select item 374257	NM_001197104.2(KMT2A):c.2318dup (p.Ser774fs)	KMT2A (S774fs)	Duplication (frameshift variant)	Wiedemann-Steiner syndrome +2 more	GPathogenic
Select item 372920	NM_001197104.2(KMT2A):c.3464G>A (p.Cys1155Tyr)	KMT2A (C1155Y)	Single nucleotide variant (missense variant)	Wiedemann-Steiner syndrome +1 more	GPathogenic/Likely pathogenic
Select item 827794	NM_001197104.2(KMT2A):c.3935_3936del (p.Thr1312fs)	KMT2A (T1312fs)	Deletion (frameshift variant)	Wiedemann-Steiner syndrome	GLikely pathogenic
Select item 666288	NM_001197104.2(KMT2A):c.4906C>T (p.Arg1636Ter)	KMT2A (R1633* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 666323	NM_001197104.2(KMT2A):c.8183_8186del (p.Glu2728fs)	KMT2A (E2728fs +1 more)	Microsatellite (frameshift variant)	Wiedemann-Steiner syndrome	GLikely pathogenic
Select item 1172651	NM_001197104.2(KMT2A):c.10023dup (p.Ser3342fs)	KMT2A (S3339fs +1 more)	Duplication (frameshift variant)	Intellectual disability	GPathogenic

ClinVar