Clinical and molecular spectrum of Wiedemann-Steiner syndrome, an emerging member of the chromatinopathy family

Table 1 List of pathogenic or likely pathogenic sequence variations in KMT2A

No.	cDNA	Transcript	Protein change	Gene region	Mutation type	Clinical interpretation	refSNP cluster	Database
1	c.134del	NM_001197104.1	p.Pro45fs	Exon 1	Deletion	Pathogenic	rs1555138529	ClinVar/HGMD
2	c.173dup	NM_001197104.2	p.Ala59fs	Exon 1	Duplication	Pathogenic		ClinVar
3	c.458C>G	NM_001197104.1	S153*	Exon 2	Nonsense	Pathogenic	rs587783678	ClinVar
4	c.502+1G>A	NM_001197104.2		Intron 2-3	Splice site	Pathogenic		ClinVar
5	c.602_603insT	NM_005933.4	p.Lys201fs	Exon 3	Insertion	Pathogenic	rs1555035550	ClinVar
6	c.838C>A	NM_001197104.1	p.Pro280Thr	Exon 3	Missense	Likely Pathogenic		HGMD
7	c.1038del	NM_005933.4	p.Val347Leufs*53	Exon 3	Deletion	Pathogenic	rs1555035779	ClinVar/HGMD
8	c.1844del	NM_001197104.2	P615fs	Exon 3	Deletion	Pathogenic		ClinVar
9	c.1868del	NM_001197104.1	p.Lys623fs	Exon 3	Deletion	Pathogenic	rs797044937	HGMD
10	c.2148delC	NM_001197104.1	p.Leu717Cysfs*39	Exon 3	Deletion	Pathogenic		HGMD
11	c.2318dup	NM_005933.4	p.Ser774fs	Exon 3	Duplication	Pathogenic	rs782297546	ClinVar/HGMD
12	c.2671_2672GA[1]	NM_005933.4	p.Arg893fs	Exon 3	Insertion	Pathogenic	rs587783676	ClinVar
13	c.2896A>T	NM_001197104.1	R966*	Exon 3	Nonsense	Pathogenic	rs1555036801	ClinVar
14	c.3157-7_3161del	NM_001197104.2		4 (intron 3-4)	Deletion	Pathogenic		ClinVar
15	c.3247C>T	NM_001197104.1	p.Arg1083Ter	Exon 4	Nonsense	Pathogenic	rs782451966	HGMD
16	c.3334+1G>A	NM_001197104.1		Intron 4-5	Splice site	Pathogenic	rs1135401764	ClinVar
17	c.3341C>A	NM_001197104.1	S1114*	Exon 5	Nonsense	Pathogenic	rs1555038029	ClinVar
18	c.3455C>A	NM_001197104.2	S1152*	Exon 5	Nonsense	Pathogenic		ClinVar
19	c.3464G>A	NM_001197104.1	p.Cys1155Tyr	Exon 5	Missense	Likely Pathogenic	rs1057518074	HGMD
20	c.3473G>A	NM_001197104.1	p.Cys1158Tyr	Exon 5	Missense	Likely Pathogenic	rs1131691503	ClinVar
21	c.3521T>G	NM_001197104.1	L1174*	Exon 5	Nonsense	Pathogenic	rs1555038111	ClinVar
22	c.3566G>A	NM_005933.4	p.Cys1189Tyr	Exon 5	Missense	Pathogenic	rs1555038125	ClinVar/HGMD
23	c.3592C>T	NM_001197104.2	Q1198*	Exon 6	Nonsense	Pathogenic		ClinVar
24	c.3651dup	NM_005933.4	p.Lys1218fs	Exon 7	Duplication	Pathogenic	rs863224887	ClinVar
25	c.3680_3683del	NM_001197104.2	p.Asp1227fs	Exon 7	Deletion	Pathogenic		ClinVar
26	c.3740_3741del	NM_001197104.1	S1247fs	Exon 7	Deletion	Likely Pathogenic	rs1565286640	ClinVar
27	c.4012+2T>A	NM_005933.4		Intron 7-8	Splice site	Pathogenic		ClinVar
28	c.4032del	NM_005933.4	p.Val1347fs	Exon 8	Deletion	Pathogenic		ClinVar
29	c.4086+1G>A	NM_001197104.1		Intron 8-9	Splice site	Likely Pathogenic	rs863224889	ClinVar/HGMD
30	c.4342T>C	NM_001197104.1	p.Cys1448Arg	Exon 11	Missense	Likely Pathogenic	rs863224895	ClinVar/HGMD
31	c.4367A>G	NM_001197104.1	p.His1456Arg	Exon 11	Missense	Likely Pathogenic	rs1131691433	ClinVar
32	c.4429_4431CGT[1]	NM_001197104.2	p.Arg1478del	Exon 11	Nonsense	Likely Pathogenic		ClinVar
33	c.4599dup	NM_005933.4	p.Lys1534Ter	Exon 13	Nonsense	Pathogenic	rs398122881	ClinVar/HGMD
34	c.4696+1G>A	NM_001197104.1		Intron 13-14	Splice site	Pathogenic	rs1057519407	ClinVar
35	c.4906C>T	NM_001197104.2	R1633*, R1636*	Exon 15	Nonsense	Likely Pathogenic		ClinVar/HGMD
36	c.5431C>T	NM_001197104.2	R1808*, R1811*	Exon 19	Nonsense	Likely Pathogenic		ClinVar
37	c.5494C>A	NM_001197104.1	P1832T, P1829T	Exon 19	Missense	Likely Pathogenic	rs797045051	ClinVar
38	c.5612dup	NM_005933.4	p.Gln1872fs	Exon 20	Duplication	Pathogenic	rs1555043939	ClinVar
39	c.6002_6005del	NM_001197104.1	F2001fs, F1998fs	Exon 23	Deletion	Pathogenic	rs1057519408	ClinVar
40	c.6080G>A	NM_001197104.1	G2027E, G2024E	Exon 24	Missense	Likely Pathogenic	rs1057519403	ClinVar
41	c.6158+6T>C	NM_001197104.1		Intron 24-25	Splice site	Likely Pathogenic	rs1555045177	ClinVar
42	c.6379C>T	NM_001197104.1	p.R2127*	Exon 27	Nonsense	Pathogenic		HGMD
43	c.6781C>T	NM_001197104.1	p.Gln2261*	Exon 27	Nonsense	Pathogenic		HGMD
44	c.6811del	NM_001197104.1	R2271fs, R2268fs	Exon 27	Deletion	Pathogenic	rs797045656	ClinVar
45	c.6904del	NM_005933.4	S2302fs, S2305fs	Exon 27	Deletion	Pathogenic	rs398122880	ClinVar/HGMD
46	c.7135C>T	NM_005933.4	R2382*, R2379*	Exon 27	Nonsense	Pathogenic	rs387907275	ClinVar/HGMD
47	c.7285G>T	NM_001197104.1	p.Gly2422*	Exon 27	Nonsense	Likely Pathogenic		HGMD
48	c.7438C>T	NM_001197104.1	R2480*, R2477*	Exon 27	Nonsense	Pathogenic	rs1555046568	ClinVar/HGMD
49	c.7643del	NM_001197104.2	A2545fs, A2548fs	Exon 27	Deletion	Pathogenic		ClinVar
50	c.7831G>T	NM_001197104.1	E2611*, E2608*	Exon 27	Nonsense	Pathogenic	rs587783679	ClinVar
51	c.7899del	NM_001197104.2	T2635fs, T2632fs	Exon 27	Deletion	Pathogenic		ClinVar
52	c.8095C>T	NM_001197104.1	R2699*, R2696*	Exon 27	Nonsense	Pathogenic	rs587783680	ClinVar
53	c.8140del	NM_005933.4	I2714fs, I2717fs	Exon 27	Deletion	Pathogenic	rs1131692268	ClinVar/HGMD
54	c.8181_8182AG[1]	NM_001197104.2	p.Glu2728fs	Exon 27	Insertion	Likely Pathogenic		ClinVar
55	c.8258del	NM_005933.4	p.Asn2752_Leu2753insTer	Exon 27	Nonsense	Pathogenic	rs398122879	ClinVar
56	c.8261dup	NM_005933.4	p.Ile2755fs	Exon 27	Duplication	Pathogenic	rs1565304395	ClinVar
57	c.8543T>C	NM_001197104.1	L2848P, L2845P	Exon 27	Missense	Likely Pathogenic	rs1555047266	ClinVar
58	c.8793_8796GTCT[1]	NM_005933.4	p.Ser2932_Val2933insTer	Exon 27	Nonsense	Pathogenic	rs398122878	ClinVar/HGMD
59	c.10325dup	NM_005933.4	p.Ser3443fs	Exon 27	Duplication	Pathogenic	rs863224888	ClinVar
60	c.10367del	NM_005933.4	N3456fs, N3459fs	Exon 27	Deletion	Pathogenic		ClinVar
61	c.11022del	NM_005933.4	S3675fs, S3678fs	Exon 30	Deletion	Pathogenic	rs1565310297	ClinVar
62	c.11071+1G>A	NM_001197104.1		Intron 30-31	Splice site	Pathogenic	rs1555049702	ClinVar
63	c.11084C>G	NM_001197104.1	S3695*, S3692*	Exon 31	Nonsense	Pathogenic	rs782477344	ClinVar
64	c.11785A>C	NM_001197104.2	I3926L, I3929L	Exon 36	Missense	Likely Pathogenic		ClinVar