"Institute of Medical Genetics and Applied Genomics, University Hospit - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2573986	NM_001197104.2(KMT2A):c.3337A>T (p.Lys1113Ter)	KMT2A (K1113* +1 more)	Single nucleotide variant (nonsense)	Wiedemann-Steiner syndrome	GPathogenic
Select item 987140	NM_001197104.2(KMT2A):c.3340del (p.Ser1114fs)	KMT2A (S1114fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 987453	NM_001197104.2(KMT2A):c.3933dup (p.Thr1312fs)	KMT2A (T1312fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 987325	NM_001197104.2(KMT2A):c.5887C>T (p.Arg1963Ter)	KMT2A (R1960* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 449960	NM_001197104.2(KMT2A):c.7438C>T (p.Arg2480Ter)	KMT2A (R2480* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 987027	NM_001197104.2(KMT2A):c.7841del (p.Ser2614fs)	KMT2A (S2611fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 987437	NM_001197104.2(KMT2A):c.10153_10154del (p.Leu3385fs)	KMT2A (L3382fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 987011	NM_001197104.2(KMT2A):c.10322del (p.Thr3441fs)	KMT2A (T3438fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 987095	NM_001197104.2(KMT2A):c.10816G>T (p.Glu3606Ter)	KMT2A (E3603* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic

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