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Items: 1 to 100 of 125

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr1:209961765-209965792
IRF6Popliteal pterygium syndrome, Orofacial cleft 6, susceptibility to, Van der Woude syndrome
Pathogenic
(Jul 6, 2022)		criteria provided, single submitter
2.
GRCh37:
Chr1:209969837
GRCh38:
Chr1:209796492
IRF6W79RVan der Woude syndrome, Popliteal pterygium syndrome, Orofacial cleft 6, susceptibility to
Uncertain significance
(Sep 19, 2022)		criteria provided, single submitter
3.
GRCh37:
Chr1:209969798
GRCh38:
Chr1:209796453
IRF6E92KVan der Woude syndrome, Popliteal pterygium syndrome, Orofacial cleft 6, susceptibility to
Pathogenic
(Dec 14, 2021)		criteria provided, single submitter
4.
GRCh37:
Chr1:209961979
GRCh38:
Chr1:209788634
IRF6V302A, V397AVan der Woude syndrome, Popliteal pterygium syndrome, Orofacial cleft 6, susceptibility to
Uncertain significance
(Jul 16, 2022)		criteria provided, single submitter
5.
GRCh37:
Chr1:209969690
GRCh38:
Chr1:209796345
IRF6Van der Woude syndrome, Orofacial cleft 6, susceptibility to, Popliteal pterygium syndrome
Uncertain significance
(Apr 12, 2022)		criteria provided, single submitter
6.
GRCh37:
Chr1:209974697-209974703
GRCh38:
Chr1:209801352-209801358
IRF6D19fsVan der Woude syndrome, Orofacial cleft 6, susceptibility to, Popliteal pterygium syndrome
Pathogenic
(Mar 14, 2022)		criteria provided, single submitter
7.
GRCh37:
Chr1:209963131
GRCh38:
Chr1:209789786
IRF6Popliteal pterygium syndrome, Orofacial cleft 6, susceptibility to, Van der Woude syndrome
Likely pathogenic
(Apr 19, 2022)		criteria provided, single submitter
8.
GRCh37:
Chr1:209965720
GRCh38:
Chr1:209792375
IRF6S92R, S187RVan der Woude syndrome, Orofacial cleft 6, susceptibility to, Popliteal pterygium syndrome
Uncertain significance
(Apr 8, 2022)		criteria provided, single submitter
9.
GRCh37:
Chr1:209961930
GRCh38:
Chr1:209788585
IRF6Orofacial cleft 6, susceptibility to, Van der Woude syndrome, Popliteal pterygium syndrome
Likely benign
(Sep 13, 2022)		criteria provided, single submitter
10.
GRCh37:
Chr1:209965759
GRCh38:
Chr1:209792414
IRF6Popliteal pterygium syndrome, Van der Woude syndrome, Orofacial cleft 6, susceptibility to
Likely benign
(Mar 8, 2022)		criteria provided, single submitter
11.
GRCh37:
Chr1:209964123
GRCh38:
Chr1:209790778
IRF6M164I, M259IVan der Woude syndrome, Orofacial cleft 6, susceptibility to, Popliteal pterygium syndrome
Likely benign
(Jul 30, 2022)		criteria provided, single submitter
12.
GRCh37:
Chr1:209963841
GRCh38:
Chr1:209790496
IRF6Orofacial cleft 6, susceptibility to, Popliteal pterygium syndrome, Van der Woude syndrome
Likely benign
(Oct 22, 2022)		criteria provided, single submitter
13.
GRCh37:
Chr1:209963102
GRCh38:
Chr1:209789757
IRF6I363fs, I268fsVan der Woude syndrome, Orofacial cleft 6, susceptibility to, Popliteal pterygium syndrome
Pathogenic
(Jul 5, 2022)		criteria provided, single submitter
14.
GRCh37:
Chr1:209963137
GRCh38:
Chr1:209789792
IRF6Van der Woude syndrome, Orofacial cleft 6, susceptibility to, Popliteal pterygium syndrome
Likely benign
(Apr 19, 2022)		criteria provided, single submitter
15.
GRCh37:
Chr1:209974757
GRCh38:
Chr1:209801412
IRF6M1KPopliteal pterygium syndrome, Orofacial cleft 6, susceptibility to, Van der Woude syndrome
Pathogenic
(Aug 23, 2022)		criteria provided, single submitter
16.
GRCh37:
Chr1:209968620
GRCh38:
Chr1:209795275
IRF6Orofacial cleft 6, susceptibility to, Popliteal pterygium syndrome, Van der Woude syndrome
Likely benign
(Oct 17, 2022)		criteria provided, single submitter
17.
GRCh37:
Chr1:209963140
GRCh38:
Chr1:209789795
IRF6Orofacial cleft 6, susceptibility to, Popliteal pterygium syndrome, Van der Woude syndrome
Uncertain significance
(Jun 27, 2022)		criteria provided, single submitter
18.
GRCh37:
Chr1:209964080-209964081
GRCh38:
Chr1:209790735-209790736
IRF6Orofacial cleft 6, susceptibility to, Popliteal pterygium syndrome, Van der Woude syndrome
Uncertain significance
(Aug 19, 2022)		criteria provided, single submitter
19.
GRCh37:
Chr1:209969778
GRCh38:
Chr1:209796433
IRF6Popliteal pterygium syndrome, Van der Woude syndrome, Orofacial cleft 6, susceptibility to
Likely benign
(Apr 12, 2022)		criteria provided, single submitter
20.
GRCh37:
Chr1:209969773
GRCh38:
Chr1:209796428
IRF6T100S, T5SPopliteal pterygium syndromeUncertain significance
(May 3, 2021)		criteria provided, single submitter
21.
GRCh37:
Chr1:209961922
GRCh38:
Chr1:209788577
IRF6S321N, S416NOrofacial cleft 6, susceptibility to, Van der Woude syndrome, Popliteal pterygium syndrome
Uncertain significance
(Sep 19, 2022)		criteria provided, single submitter
22.
GRCh37:
Chr1:209968753
GRCh38:
Chr1:209795408
IRF6Orofacial cleft 6, susceptibility to, Popliteal pterygium syndrome, Van der Woude syndrome
Benign
(Sep 29, 2021)		criteria provided, single submitter
23.
GRCh37:
Chr1:209961854
GRCh38:
Chr1:209788509
IRF6Orofacial cleft 6, susceptibility to, Popliteal pterygium syndrome, Van der Woude syndrome
Likely benign
(Dec 1, 2021)		criteria provided, single submitter
24.
GRCh37:
Chr1:209969803
GRCh38:
Chr1:209796458
IRF6S90TOrofacial cleft 6, susceptibility to, Popliteal pterygium syndrome, Van der Woude syndrome
Likely pathogenic
(Sep 1, 2021)		criteria provided, single submitter
25.
GRCh37:
Chr1:209964174
GRCh38:
Chr1:209790829
IRF6Orofacial cleft 6, susceptibility to, Popliteal pterygium syndrome, Van der Woude syndrome
Uncertain significance
(Aug 31, 2021)		criteria provided, single submitter
26.
GRCh37:
Chr1:209961769
GRCh38:
Chr1:209788424
IRF6Q372R, Q467Rnot provided, Popliteal pterygium syndrome, Van der Woude syndrome,
Orofacial cleft 6, susceptibility to		Uncertain significance
(Jun 2, 2022)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr1:209964155
GRCh38:
Chr1:209790810
IRF6C154R, C249RPopliteal pterygium syndrome, Van der Woude syndrome, Orofacial cleft 6, susceptibility to
Uncertain significance
(Sep 1, 2021)		criteria provided, single submitter
28.
GRCh37:
Chr1:209963998
GRCh38:
Chr1:209790653
IRF6G301fs, G206fsPopliteal pterygium syndrome, Van der Woude syndrome, Orofacial cleft 6, susceptibility to
Pathogenic
(Oct 27, 2021)		criteria provided, single submitter
29.
GRCh37:
Chr1:209965630-209965631
GRCh38:
Chr1:209792285-209792286
IRF6W122fs, W217fsPopliteal pterygium syndrome, Van der Woude syndrome, Orofacial cleft 6, susceptibility to
Pathogenic
(Jun 14, 2021)		criteria provided, single submitter
30.
GRCh37:
Chr1:209965706
GRCh38:
Chr1:209792361
IRF6W192*, W97*Popliteal pterygium syndrome, Van der Woude syndrome, Orofacial cleft 6, susceptibility to
Pathogenic
(Nov 12, 2021)		criteria provided, single submitter
31.
GRCh37:
Chr1:209963848
GRCh38:
Chr1:209790503
IRF6F351S, F256SPopliteal pterygium syndrome, Van der Woude syndrome, Orofacial cleft 6, susceptibility to
Pathogenic
(Aug 13, 2021)		criteria provided, single submitter
32.
GRCh37:
Chr1:209969750-209969751
GRCh38:
Chr1:209796405-209796406
IRF6V108fs, V13fsPopliteal pterygium syndrome, Van der Woude syndrome, Orofacial cleft 6, susceptibility to
Pathogenic
(Feb 17, 2021)		criteria provided, single submitter
33.
GRCh37:
Chr1:209968665
GRCh38:
Chr1:209795320
IRF6Q160*, Q65*Popliteal pterygium syndrome, Van der Woude syndrome, Orofacial cleft 6, susceptibility to
Pathogenic
(Feb 20, 2021)		criteria provided, single submitter
34.
GRCh37:
Chr1:209969809
GRCh38:
Chr1:209796464
IRF6N88SPopliteal pterygium syndrome, Van der Woude syndrome, Orofacial cleft 6, susceptibility to
Pathogenic
(Oct 12, 2022)		criteria provided, single submitter
35.
GRCh37:
Chr1:209963855
GRCh38:
Chr1:209790510
IRF6E254*, E349*Popliteal pterygium syndrome, Van der Woude syndrome, Orofacial cleft 6, susceptibility to
Pathogenic
(Mar 22, 2021)		criteria provided, single submitter
36.
GRCh37:
Chr1:209963979
GRCh38:
Chr1:209790634
IRF6Popliteal pterygium syndrome, Van der Woude syndrome, Orofacial cleft 6, susceptibility to
Uncertain significance
(Aug 27, 2021)		criteria provided, single submitter
37.
GRCh37:
Chr1:209964217
GRCh38:
Chr1:209790872
IRF6I133T, I228TPopliteal pterygium syndrome, Van der Woude syndrome, Orofacial cleft 6, susceptibility to
Uncertain significance
(Sep 13, 2022)		criteria provided, single submitter
38.
GRCh37:
Chr1:209964034
GRCh38:
Chr1:209790689
IRF6L194P, L289POrofacial cleft 6, susceptibility to, Van der Woude syndrome, Popliteal pterygium syndrome
Uncertain significance
(Sep 5, 2022)		criteria provided, single submitter
39.
GRCh37:
Chr1:209969745
GRCh38:
Chr1:209796400
IRF6K14N, K109NOrofacial cleft 6, susceptibility to, Van der Woude syndrome, Popliteal pterygium syndrome
Uncertain significance
(Aug 31, 2021)		criteria provided, single submitter
40.
GRCh37:
Chr1:209969721
GRCh38:
Chr1:209796376
IRF6Orofacial cleft 6, susceptibility to, Popliteal pterygium syndrome, Van der Woude syndrome
Benign
(Feb 29, 2020)		criteria provided, single submitter
41.
GRCh37:
Chr1:209968704
GRCh38:
Chr1:209795359
IRF6E147fs, E52fsPopliteal pterygium syndrome, Van der Woude syndrome, Orofacial cleft 6, susceptibility to
Pathogenic
(Jun 18, 2020)		criteria provided, single submitter
42.
GRCh37:
Chr1:209964152
GRCh38:
Chr1:209790807
IRF6R155*, R250*Popliteal pterygium syndrome, Van der Woude syndrome, Orofacial cleft 6, susceptibility to,
not provided		Pathogenic
(Aug 30, 2021)		criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr1:209965723
GRCh38:
Chr1:209792378
IRF6C186*, C91*Popliteal pterygium syndrome, Van der Woude syndrome, Orofacial cleft 6, susceptibility to
Pathogenic
(Aug 24, 2021)		criteria provided, single submitter
44.
GRCh37:
Chr1:209974565-209979435
IRF6Popliteal pterygium syndrome, Van der Woude syndrome, Orofacial cleft 6, susceptibility to
Pathogenic
(Sep 21, 2020)		criteria provided, single submitter
45.
GRCh37:
Chr1:209974565-209974778
IRF6Popliteal pterygium syndrome, Van der Woude syndrome, Orofacial cleft 6, susceptibility to
Pathogenic
(Aug 12, 2021)		criteria provided, single submitter
46.
GRCh37:
Chr1:209974590
GRCh38:
Chr1:209801245
IRF6F57LOrofacial cleft 6, susceptibility to, Popliteal pterygium syndrome, Van der Woude syndrome
Likely pathogenic
(Oct 13, 2022)		criteria provided, single submitter
47.
GRCh37:
Chr1:209969858-209969859
GRCh38:
Chr1:209796513-209796514
IRF6Orofacial cleft 6, susceptibility to, Popliteal pterygium syndrome, Van der Woude syndrome
Uncertain significance
(Aug 12, 2021)		criteria provided, single submitter
48.
GRCh37:
Chr1:209963968
GRCh38:
Chr1:209790623
IRF6I216T, I311TOrofacial cleft 6, susceptibility to, Van der Woude syndrome, Popliteal pterygium syndrome
Uncertain significance
(Sep 2, 2021)		criteria provided, single submitter
49.
GRCh37:
Chr1:209969795
GRCh38:
Chr1:209796450
IRF6F93LOrofacial cleft 6, susceptibility to, Van der Woude syndrome, Popliteal pterygium syndrome
Uncertain significance
(Aug 27, 2021)		criteria provided, single submitter
50.
GRCh37:
Chr1:209963053
GRCh38:
Chr1:209789708
IRF6P285S, P380SOrofacial cleft 6, susceptibility to, Van der Woude syndrome, Popliteal pterygium syndrome
Pathogenic
(Aug 26, 2021)		criteria provided, single submitter
51.
GRCh37:
Chr1:209964146
GRCh38:
Chr1:209790801
IRF6F157V, F252VOrofacial cleft 6, susceptibility to, Van der Woude syndrome, Popliteal pterygium syndrome
Uncertain significance
(Aug 27, 2021)		criteria provided, single submitter
52.
GRCh37:
Chr1:209961899
GRCh38:
Chr1:209788554
IRF6S329A, S424AOrofacial cleft 6, susceptibility to, Van der Woude syndrome, Popliteal pterygium syndrome
Uncertain significance
(Sep 1, 2021)		criteria provided, single submitter
53.
GRCh37:
Chr1:209964081
GRCh38:
Chr1:209790736
IRF6Q178H, Q273HOrofacial cleft 6, susceptibility to, Van der Woude syndrome, Popliteal pterygium syndrome
Uncertain significance
(Aug 26, 2021)		criteria provided, single submitter
54.
GRCh37:
Chr1:209974650-209974651
GRCh38:
Chr1:209801305-209801306
IRF6F36fsOrofacial cleft 6, susceptibility to, Popliteal pterygium syndrome, Van der Woude syndrome
Pathogenic
(Jan 26, 2019)		criteria provided, single submitter
55.
GRCh37:
Chr1:209974707
GRCh38:
Chr1:209801362
IRF6V18MOrofacial cleft 6, susceptibility to, Popliteal pterygium syndrome, Van der Woude syndrome
Uncertain significance
(Jul 25, 2022)		criteria provided, single submitter
56.
GRCh37:
Chr1:209963840
GRCh38:
Chr1:209790495
IRF6D259N, D354Nnot provided, Orofacial cleft 6, susceptibility to, Popliteal pterygium syndrome,
Van der Woude syndrome		Uncertain significance
(Oct 9, 2022)		criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr1:209965659
GRCh38:
Chr1:209792314
IRF6Q113*, Q208*Van der Woude syndrome, Orofacial cleft 6, susceptibility to, Popliteal pterygium syndrome
Pathogenic
(Aug 25, 2021)		criteria provided, single submitter
58.
GRCh37:
Chr1:209964240
GRCh38:
Chr1:209790895
IRF6Orofacial cleft 6, susceptibility to, Popliteal pterygium syndrome, Van der Woude syndrome
Uncertain significance
(Aug 27, 2021)		criteria provided, single submitter
59.
GRCh37:
Chr1:209964012
GRCh38:
Chr1:209790667
IRF6Orofacial cleft 6, susceptibility to, Van der Woude syndrome, Popliteal pterygium syndrome,
Orofacial cleft 6, susceptibility to, Van der Woude syndrome 1		Conflicting interpretations of pathogenicity
(Mar 4, 2022)		criteria provided, conflicting interpretations
60.
GRCh37:
Chr1:209974724
GRCh38:
Chr1:209801379
IRF6P12HOrofacial cleft 6, susceptibility to, Van der Woude syndrome, Popliteal pterygium syndrome
Uncertain significance
(Jan 6, 2022)		criteria provided, single submitter
61.
GRCh37:
Chr1:209974585
GRCh38:
Chr1:209801240
IRF6Van der Woude syndrome, Orofacial cleft 6, susceptibility to, Popliteal pterygium syndrome
Uncertain significance
(Aug 24, 2021)		criteria provided, single submitter
62.
GRCh37:
Chr1:209969893
GRCh38:
Chr1:209796548
IRF6W60*Van der Woude syndrome, Orofacial cleft 6, susceptibility to, Popliteal pterygium syndrome
Pathogenic
(Sep 2, 2021)		criteria provided, single submitter
63.
GRCh37:
Chr1:209963070
GRCh38:
Chr1:209789725
IRF6C374Y, C279YOrofacial cleft 6, susceptibility to, Van der Woude syndrome, Popliteal pterygium syndrome
Likely pathogenic
(Sep 1, 2021)		criteria provided, single submitter
64.
GRCh37:
Chr1:209963911
GRCh38:
Chr1:209790566
IRF6S330*, S235*Popliteal pterygium syndrome, Van der Woude syndrome, Orofacial cleft 6, susceptibility to
Pathogenic
(Aug 26, 2021)		criteria provided, single submitter
65.
GRCh37:
Chr1:209969892
GRCh38:
Chr1:209796547
IRF6W60*Popliteal pterygium syndrome, Van der Woude syndrome, Orofacial cleft 6, susceptibility to
Pathogenic
(Aug 28, 2021)		criteria provided, single submitter
66.
GRCh37:
Chr1:209964236
GRCh38:
Chr1:209790891
IRF6Orofacial cleft 6, susceptibility to, Van der Woude syndrome, Popliteal pterygium syndrome
Likely benign
(Jul 19, 2022)		criteria provided, single submitter
67.
GRCh37:
Chr1:209968767
GRCh38:
Chr1:209795422
IRF6Orofacial cleft 6, susceptibility to, Van der Woude syndrome 1, Popliteal pterygium syndrome
Likely benign
(Dec 31, 2019)		criteria provided, single submitter
68.
GRCh37:
Chr1:209969896
GRCh38:
Chr1:209796551
IRF6A59VPopliteal pterygium syndrome, Van der Woude syndrome, Orofacial cleft 6, susceptibility to
Likely pathogenic
(Aug 13, 2021)		criteria provided, single submitter
69.
GRCh37:
Chr1:209974626
GRCh38:
Chr1:209801281
IRF6R45fsIRF6-related condition, Popliteal pterygium syndrome, Van der Woude syndrome,
Orofacial cleft 6, susceptibility to		Pathogenic/Likely pathogenic
(Sep 3, 2022)		criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr1:209969780
GRCh38:
Chr1:209796435
IRF6D98H, D3HOrofacial cleft 6, susceptibility to, Van der Woude syndrome, Popliteal pterygium syndrome
Likely pathogenic
(Aug 13, 2021)		criteria provided, single submitter
71.
GRCh37:
Chr1:209965616
GRCh38:
Chr1:209792271
IRF6P222L, P127LOrofacial cleft 6, susceptibility to, Van der Woude syndrome, Popliteal pterygium syndrome,
not provided		Uncertain significance
(Sep 28, 2022)		criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr1:209963950
GRCh38:
Chr1:209790605
IRF6C317Y, C222YOrofacial cleft 6, susceptibility to, Popliteal pterygium syndrome, Van der Woude syndrome
Likely pathogenic
(Aug 30, 2021)		criteria provided, single submitter
73.
GRCh37:
Chr1:209961845-209961855
GRCh38:
Chr1:209788500-209788510
IRF6Q343fs, Q438fsVan der Woude syndrome, Orofacial cleft 6, susceptibility to, Popliteal pterygium syndrome
Pathogenic
(Aug 12, 2021)		criteria provided, single submitter
74.
GRCh37:
Chr1:209974717-209974718
GRCh38:
Chr1:209801372-209801373
IRF6L14RPopliteal pterygium syndrome, Van der Woude syndrome, Orofacial cleft 6, susceptibility to
Uncertain significance
(Aug 12, 2021)		criteria provided, single submitter
75.
GRCh37:
Chr1:209965716
GRCh38:
Chr1:209792371
IRF6E189K, E94KPopliteal pterygium syndrome, Van der Woude syndrome, Orofacial cleft 6, susceptibility to
Uncertain significance
(Aug 12, 2021)		criteria provided, single submitter
76.
GRCh37:
Chr1:209974582-209974583
GRCh38:
Chr1:209801237-209801238
IRF6Orofacial cleft 6, susceptibility to, Van der Woude syndrome, Popliteal pterygium syndrome
Uncertain significance
(Aug 31, 2021)		criteria provided, single submitter
77.
GRCh37:
Chr1:209961801
GRCh38:
Chr1:209788456
IRF6S457fs, S362fsVan der Woude syndrome 1, Orofacial cleft 6, susceptibility to, Popliteal pterygium syndrome
Uncertain significance
(Oct 18, 2017)		criteria provided, single submitter
78.
GRCh37:
Chr1:209969808
GRCh38:
Chr1:209796463
IRF6N88KOrofacial cleft 6, susceptibility to, Van der Woude syndrome, Popliteal pterygium syndrome
Uncertain significance
(Oct 13, 2022)		criteria provided, single submitter
79.
GRCh37:
Chr1:209964237
GRCh38:
Chr1:209790892
IRF6Van der Woude syndrome 1, Orofacial cleft 6, susceptibility to, Popliteal pterygium syndrome
Uncertain significance
(Dec 19, 2017)		criteria provided, single submitter
80.
GRCh37:
Chr1:209964011
GRCh38:
Chr1:209790666
IRF6V297I, V202IOrofacial cleft 6, susceptibility to, Van der Woude syndrome, Popliteal pterygium syndrome
Uncertain significance
(Aug 31, 2021)		criteria provided, single submitter
81.
GRCh37:
Chr1:209969812
GRCh38:
Chr1:209796467
IRF6L87POrofacial cleft 6, susceptibility to, Van der Woude syndrome, Popliteal pterygium syndrome
Uncertain significance
(Jul 14, 2021)		criteria provided, single submitter
82.
GRCh37:
Chr1:209963936
GRCh38:
Chr1:209790591
IRF6Y322N, Y227NOrofacial cleft 6, susceptibility to, Van der Woude syndrome, Popliteal pterygium syndrome
Uncertain significance
(Jul 3, 2016)		criteria provided, single submitter
83.
GRCh37:
Chr1:209974677
GRCh38:
Chr1:209801332
IRF6W28GOrofacial cleft 6, susceptibility to, Popliteal pterygium syndrome, Van der Woude syndrome 1
Uncertain significance
(Jun 4, 2017)		criteria provided, single submitter
84.
GRCh37:
Chr1:209969830
GRCh38:
Chr1:209796485
IRF6A81DOrofacial cleft 6, susceptibility to, Popliteal pterygium syndrome, Van der Woude syndrome 1
Uncertain significance
(Jul 20, 2017)		criteria provided, single submitter
85.
GRCh37:
Chr1:209961901
GRCh38:
Chr1:209788556
IRF6I423S, I328SOrofacial cleft 6, susceptibility to, Van der Woude syndrome, Popliteal pterygium syndrome
Uncertain significance
(Aug 28, 2021)		criteria provided, single submitter
86.
GRCh37:
Chr1:209963845
GRCh38:
Chr1:209790500
IRF6L352R, L257ROrofacial cleft 6, susceptibility to, Van der Woude syndrome, Popliteal pterygium syndrome
Uncertain significance
(Jul 14, 2021)		criteria provided, single submitter
87.
GRCh37:
Chr1:209964151
GRCh38:
Chr1:209790806
IRF6R250Q, R155QPopliteal pterygium syndrome, Orofacial cleft 6, susceptibility to, Van der Woude syndrome
Pathogenic
(Aug 19, 2022)		criteria provided, single submitter
88.
GRCh37:
Chr1:209969840
GRCh38:
Chr1:209796495
IRF6K78EPopliteal pterygium syndrome, Orofacial cleft 6, susceptibility to, Van der Woude syndrome,
Van der Woude syndrome 1		Likely pathogenic
(Jul 14, 2021)		criteria provided, single submitter
89.
GRCh37:
Chr1:209961935
GRCh38:
Chr1:209788590
IRF6R412*, R317*not provided, Van der Woude syndrome, Popliteal pterygium syndrome,
Orofacial cleft 6, susceptibility to, Van der Woude syndrome 1		Pathogenic
(Aug 7, 2022)		criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr1:209974639
GRCh38:
Chr1:209801294
IRF6W40CPopliteal pterygium syndrome, Orofacial cleft 6, susceptibility to, Van der Woude syndrome,
Van der Woude syndrome 1		Pathogenic/Likely pathogenic
(Jul 19, 2022)		criteria provided, single submitter
91.
GRCh37:
Chr1:209961974
GRCh38:
Chr1:209788629
IRF6A399fs, A304fsPopliteal pterygium syndrome, Orofacial cleft 6, susceptibility to, Van der Woude syndrome,
Van der Woude syndrome 1		Pathogenic
(Aug 31, 2021)		criteria provided, single submitter
92.
GRCh37:
Chr1:209963839
GRCh38:
Chr1:209790494
IRF6Van der Woude syndrome 1, Inborn genetic diseases, Orofacial cleft 6, susceptibility to,
Popliteal pterygium syndrome, Van der Woude syndrome		Pathogenic/Likely pathogenic
(Feb 28, 2022)		criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr1:209974734
GRCh38:
Chr1:209801389
IRF6R9WPopliteal pterygium syndrome, Orofacial cleft 6, susceptibility to, Van der Woude syndrome,
Van der Woude syndrome 1, not provided		Pathogenic/Likely pathogenic
(Oct 1, 2022)		criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr1:209963989
GRCh38:
Chr1:209790644
IRF6L304P, L209Pnot provided, Van der Woude syndrome, Orofacial cleft 6, susceptibility to,
Popliteal pterygium syndrome		Conflicting interpretations of pathogenicity
(Jul 22, 2022)		criteria provided, conflicting interpretations
95.
GRCh37:
Chr1:209968689
GRCh38:
Chr1:209795344
IRF6Q152*, Q57*IRF6-related condition, not provided, Orofacial cleft 6, susceptibility to,
Van der Woude syndrome, Popliteal pterygium syndrome		Pathogenic/Likely pathogenic
(Jan 17, 2023)		criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr1:209979529
GRCh38:
Chr1:209806184
IRF6Cleft Lip +/- Cleft Palate, Autosomal Dominant, Van der Woude syndrome 1, Popliteal pterygium syndrome,
Orofacial cleft 6, susceptibility to, Popliteal pterygium syndrome, Van der Woude syndrome
Benign
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr21:43187245
GRCh38:
Chr21:41767085
RIPK4Popliteal pterygium syndromeUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
98.
GRCh37:
Chr21:43160214-43160215
GRCh38:
Chr21:41740054-41740055
RIPK4Popliteal pterygium syndromeBenign
(Jun 14, 2016)		criteria provided, single submitter
99.
GRCh37:
Chr21:43159958-43159959
GRCh38:
Chr21:41739798-41739799
RIPK4Popliteal pterygium syndromeUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
100.
GRCh37:
Chr1:209975392
GRCh38:
Chr1:209802047
IRF6Orofacial cleft 6, susceptibility to, Popliteal pterygium syndrome, Van der Woude syndrome,
Orofacial cleft 6, susceptibility to, Van der Woude syndrome 1, not specified
Benign
(Oct 18, 2022)		criteria provided, multiple submitters, no conflicts
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