Variants with conflicting interpretations studied for Mowat-Wilson syndrome

Minimum review status of the submission for Mowat-Wilson syndrome:		Collection method of the submission for Mowat-Wilson syndrome:
Minimum review status of the other submission:		Collection method of the other submission:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a synonymous conflict (e.g. benign vs non-pathogenic)	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a category conflict (e.g. benign vs affects)	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
1114	100	0	41	37	0	2	79

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

	All conditions
Mowat-Wilson syndrome		pathogenic	likely pathogenic	uncertain significance	likely benign	benign
	pathogenic	0	7	1	0	0
	likely pathogenic	7	0	1	0	0
	uncertain significance	1	1	0	22	16
	likely benign	0	0	22	0	34
	benign	0	0	16	34	0

Condition to condition summary #

Total conditions: 1

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Condition	Variants with only 1 submission per condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a synonymous conflict (e.g. benign vs non-pathogenic)	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a category conflict (e.g. benign vs affects)	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
Mowat-Wilson syndrome	1114	100	0	41	37	0	2	79

All variants with conflicting interpretations #

Total variants: 79

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HGVS	dbSNP	gnomAD frequency
NM_014795.4(ZEB2):c.2141C>T (p.Pro714Leu)	rs112581563	0.00281
NM_014795.4(ZEB2):c.1480C>T (p.Pro494Ser)	rs144952836	0.00199
NM_014795.4(ZEB2):c.807+3G>C	rs144925893	0.00194
NM_014795.4(ZEB2):c.2230A>G (p.Ile744Val)	rs112005830	0.00113
NM_014795.4(ZEB2):c.1161A>G (p.Leu387=)	rs146673563	0.00084
NM_014795.4(ZEB2):c.2206A>G (p.Met736Val)	rs139191491	0.00061
NM_014795.4(ZEB2):c.1306A>G (p.Met436Val)	rs145812868	0.00052
NM_014795.4(ZEB2):c.1276T>A (p.Leu426Ile)	rs201881288	0.00036
NM_014795.4(ZEB2):c.759C>T (p.Arg253=)	rs150853991	0.00031
NM_014795.4(ZEB2):c.1438G>T (p.Ala480Ser)	rs143854197	0.00026
NM_014795.4(ZEB2):c.1735A>G (p.Thr579Ala)	rs140593583	0.00026
NM_014795.4(ZEB2):c.462G>A (p.Glu154=)	rs372940559	0.00023
NM_014795.4(ZEB2):c.304A>T (p.Ile102Phe)	rs201109457	0.00022
NM_014795.4(ZEB2):c.10C>G (p.Pro4Ala)	rs146394306	0.00015
NM_014795.4(ZEB2):c.1848T>G (p.Pro616=)	rs144835963	0.00014
NM_014795.4(ZEB2):c.2457A>G (p.Ser819=)	rs144184948	0.00014
NM_014795.4(ZEB2):c.2084G>A (p.Arg695Gln)	rs147693839	0.00012
NM_014795.4(ZEB2):c.1840C>T (p.Leu614=)	rs145201706	0.00011
NM_014795.4(ZEB2):c.1221C>T (p.His407=)	rs144613207	0.00006
NM_014795.4(ZEB2):c.2275A>G (p.Arg759Gly)	rs748354087	0.00006
NM_014795.4(ZEB2):c.1876G>A (p.Gly626Arg)	rs727504224	0.00005
NM_014795.4(ZEB2):c.219C>T (p.His73=)	rs778851716	0.00005
NM_014795.4(ZEB2):c.2855G>C (p.Arg952Thr)	rs151256895	0.00005
NM_014795.4(ZEB2):c.295A>G (p.Asn99Asp)	rs150665982	0.00004
NM_014795.4(ZEB2):c.374C>T (p.Thr125Met)	rs727504227	0.00004
NM_014795.4(ZEB2):c.466C>T (p.Arg156Cys)	rs147021269	0.00004
NM_014795.4(ZEB2):c.768C>T (p.Leu256=)	rs370751674	0.00004
NM_014795.4(ZEB2):c.1533C>T (p.Val511=)	rs587780994	0.00003
NM_014795.4(ZEB2):c.1836G>A (p.Ala612=)	rs754916469	0.00003
NM_014795.4(ZEB2):c.2004G>T (p.Glu668Asp)	rs767506087	0.00003
NM_014795.4(ZEB2):c.2255C>T (p.Thr752Met)	rs143438888	0.00003
NM_014795.4(ZEB2):c.2541C>T (p.Asn847=)	rs759097498	0.00003
NM_014795.4(ZEB2):c.332-6C>T	rs730881186	0.00003
NM_014795.4(ZEB2):c.220G>A (p.Val74Met)	rs767169568	0.00002
NM_014795.4(ZEB2):c.2215A>G (p.Ile739Val)	rs730881178	0.00002
NM_014795.4(ZEB2):c.2300C>T (p.Thr767Ile)	rs755233964	0.00002
NM_014795.4(ZEB2):c.1112A>T (p.Asn371Ile)	rs1290033369	0.00001
NM_014795.4(ZEB2):c.1288C>T (p.Pro430Ser)	rs753804606	0.00001
NM_014795.4(ZEB2):c.1446A>C (p.Glu482Asp)	rs886043609	0.00001
NM_014795.4(ZEB2):c.150C>T (p.Asp50=)	rs587780996	0.00001
NM_014795.4(ZEB2):c.179C>T (p.Thr60Met)	rs780890592	0.00001
NM_014795.4(ZEB2):c.1877G>A (p.Gly626Glu)	rs794727923	0.00001
NM_014795.4(ZEB2):c.2226A>T (p.Pro742=)	rs540345773	0.00001
NM_014795.4(ZEB2):c.2352T>C (p.Ser784=)	rs201990887	0.00001
NM_014795.4(ZEB2):c.2390A>G (p.His797Arg)	rs201227541	0.00001
NM_014795.4(ZEB2):c.2497A>G (p.Thr833Ala)	rs1490526407	0.00001
NM_014795.4(ZEB2):c.26G>A (p.Gly9Asp)	rs1242134764	0.00001
NM_014795.4(ZEB2):c.3535A>G (p.Ile1179Val)	rs1360979536	0.00001
NM_014795.4(ZEB2):c.385G>A (p.Ala129Thr)	rs730881187	0.00001
NM_014795.4(ZEB2):c.430T>A (p.Phe144Ile)	rs1057518371	0.00001
NM_014795.4(ZEB2):c.74-3C>T	rs984545941	0.00001
NM_014795.4(ZEB2):c.-69-1G>A	rs587776612
NM_014795.4(ZEB2):c.1534G>A (p.Gly512Ser)	rs141781307
NM_014795.4(ZEB2):c.1884del (p.Phe628fs)	rs786204811
NM_014795.4(ZEB2):c.1993A>G (p.Met665Val)	rs1388932284
NM_014795.4(ZEB2):c.2255C>G (p.Thr752Arg)	rs143438888
NM_014795.4(ZEB2):c.2471T>C (p.Met824Thr)	rs1553961536
NM_014795.4(ZEB2):c.2486G>A (p.Ser829Asn)	rs730881198
NM_014795.4(ZEB2):c.2495C>A (p.Ala832Asp)	rs730881179
NM_014795.4(ZEB2):c.2627A>G (p.Asp876Gly)	rs779103467
NM_014795.4(ZEB2):c.2641A>C (p.Asn881His)	rs794727922
NM_014795.4(ZEB2):c.2707G>A (p.Ala903Thr)	rs730881200
NM_014795.4(ZEB2):c.2707G>T (p.Ala903Ser)	rs730881200
NM_014795.4(ZEB2):c.2847G>A (p.Met949Ile)	rs1703257497
NM_014795.4(ZEB2):c.3046C>T (p.Arg1016Ter)	rs886041989
NM_014795.4(ZEB2):c.3067+6A>T	rs143450927
NM_014795.4(ZEB2):c.3095del (p.Cys1032fs)	rs1060500653
NM_014795.4(ZEB2):c.3353C>T (p.Pro1118Leu)	rs780004720
NM_014795.4(ZEB2):c.441C>G (p.Tyr147Ter)	rs766022812
NM_014795.4(ZEB2):c.593-18_593-17insTG	rs776927209
NM_014795.4(ZEB2):c.73+2T>C	rs398124282
NM_014795.4(ZEB2):c.747G>A (p.Thr249=)	rs587784569
NM_014795.4(ZEB2):c.797G>A (p.Gly266Glu)	rs1057522361
NM_014795.4(ZEB2):c.807+3G>T	rs144925893
NM_014795.4(ZEB2):c.82_87del (p.Tyr28_Asp29del)	rs730881214
NM_014795.4(ZEB2):c.876dup (p.Tyr293fs)	rs2149877962
NM_014795.4(ZEB2):c.904C>T (p.Arg302Ter)	rs587784571
NM_014795.4(ZEB2):c.917G>A (p.Gly306Asp)	rs1703292916
NM_014795.4(ZEB2):c.9G>A (p.Gln3=)	rs149882004

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