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Links from MedGen

Items: 1 to 100 of 196

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr4:39187442
GRCh38:
Chr4:39185822
WDR19Cranioectodermal dysplasia 4Uncertain significance
(Jun 21, 2023)		criteria provided, single submitter
2.
GRCh37:
Chr4:39255536
GRCh38:
Chr4:39253916
WDR19Q803*, Q963*Cranioectodermal dysplasia 4Likely pathogenic
(Jun 21, 2023)		criteria provided, single submitter
3.
GRCh37:
Chr4:39246173
GRCh38:
Chr4:39244553
WDR19Cranioectodermal dysplasia 4Pathogenic
(May 2, 2022)		no assertion criteria provided
4.
GRCh37:
Chr4:39216283
GRCh38:
Chr4:39214663
WDR19N159fs, N319fsCranioectodermal dysplasia 4Pathogenic
(May 2, 2022)		no assertion criteria provided
5.
GRCh37:
Chr4:39276623-39276624
GRCh38:
Chr4:39275003-39275004
WDR19Senior-Loken syndrome 8, Nephronophthisis 13, Cranioectodermal dysplasia 4,
Asphyxiating thoracic dystrophy 5		Benign
(Dec 5, 2021)		criteria provided, single submitter
6.
GRCh37:
Chr4:39254922
GRCh38:
Chr4:39253302
WDR19Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Nephronophthisis 13,
Cranioectodermal dysplasia 4, Spermatogenic failure 72, Senior-Loken syndrome 8,
Asphyxiating thoracic dystrophy 5		Likely benign
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr4:39201226
GRCh38:
Chr4:39199606
WDR19Asphyxiating thoracic dystrophy 5, Nephronophthisis 13, Cranioectodermal dysplasia 4,
Spermatogenic failure 72, Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5,
Senior-Loken syndrome 8		Likely benign
(Aug 23, 2022)		criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr4:39187381
GRCh38:
Chr4:39185761
WDR19Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Spermatogenic failure 72,
Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Nephronophthisis 13,
Cranioectodermal dysplasia 4		Likely benign
(Jun 20, 2022)		criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr4:39217450
GRCh38:
Chr4:39215830
WDR19Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Spermatogenic failure 72,
Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Nephronophthisis 13,
Cranioectodermal dysplasia 4		Likely benign
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr4:39254922
GRCh38:
Chr4:39253302
WDR19Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8, Spermatogenic failure 72,
Asphyxiating thoracic dystrophy 5, Nephronophthisis 13, Cranioectodermal dysplasia 4,
Senior-Loken syndrome 8		Likely benign
(Sep 1, 2022)		criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr4:39230119
GRCh38:
Chr4:39228499
WDR19Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5,
Nephronophthisis 13, Cranioectodermal dysplasia 4, Senior-Loken syndrome 8,
Spermatogenic failure 72		Likely benign
(Nov 10, 2021)		criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr4:39267780
GRCh38:
Chr4:39266160
WDR19Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8,
Asphyxiating thoracic dystrophy 5, Nephronophthisis 13, Cranioectodermal dysplasia 4,
Spermatogenic failure 72		Benign/Likely benign
(Sep 27, 2022)		criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr4:39276591
GRCh38:
Chr4:39274971
WDR19Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8, Spermatogenic failure 72,
Asphyxiating thoracic dystrophy 5, Nephronophthisis 13, Cranioectodermal dysplasia 4,
Senior-Loken syndrome 8		Likely benign
(Sep 27, 2022)		criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr4:39188148
GRCh38:
Chr4:39186528
WDR19Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8,
Asphyxiating thoracic dystrophy 5, Nephronophthisis 13, Cranioectodermal dysplasia 4,
Spermatogenic failure 72		Likely benign
(Oct 24, 2022)		criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr4:39269725
GRCh38:
Chr4:39268105
WDR19Spermatogenic failure 72, Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5,
Nephronophthisis 13, Cranioectodermal dysplasia 4, Senior-Loken syndrome 8,
Asphyxiating thoracic dystrophy 5		Likely benign
(Oct 1, 2022)		criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr4:39246973
GRCh38:
Chr4:39245353
WDR19Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8,
Asphyxiating thoracic dystrophy 5, Nephronophthisis 13, Cranioectodermal dysplasia 4,
Spermatogenic failure 72		Likely benign
(Mar 29, 2022)		criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr4:39257583
GRCh38:
Chr4:39255963
WDR19Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8,
Asphyxiating thoracic dystrophy 5, Nephronophthisis 13, Cranioectodermal dysplasia 4,
Spermatogenic failure 72		Uncertain significance
(May 13, 2022)		criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr4:39254815
GRCh38:
Chr4:39253195
WDR19V767I, V927ISenior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8,
Asphyxiating thoracic dystrophy 5, Nephronophthisis 13, Cranioectodermal dysplasia 4,
Spermatogenic failure 72		Uncertain significance
(Aug 8, 2022)		criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr4:39276441
GRCh38:
Chr4:39274821
WDR19I1033M, I1193MAsphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5,
Nephronophthisis 13, Cranioectodermal dysplasia 4, Spermatogenic failure 72,
Senior-Loken syndrome 8		Uncertain significance
(Apr 5, 2022)		criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr4:39269633
GRCh38:
Chr4:39268013
WDR19R1094C, R934CAsphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8, Nephronophthisis 13,
Cranioectodermal dysplasia 4, Spermatogenic failure 72, Asphyxiating thoracic dystrophy 5,
Senior-Loken syndrome 8		Uncertain significance
(Apr 10, 2022)		criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr4:39217476
GRCh38:
Chr4:39215856
WDR19S326C, S166CAsphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5,
Nephronophthisis 13, Cranioectodermal dysplasia 4, Senior-Loken syndrome 8,
Spermatogenic failure 72		Uncertain significance
(Oct 3, 2022)		criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr4:39245901
GRCh38:
Chr4:39244281
WDR19Q659K, Q819KInborn genetic diseases, Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8,
Cranioectodermal dysplasia 4, Asphyxiating thoracic dystrophy 5, Spermatogenic failure 72,
Nephronophthisis 13, Senior-Loken syndrome 8		Uncertain significance
(Mar 24, 2023)		criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr4:39246145
GRCh38:
Chr4:39244525
WDR19A713V, A873VAsphyxiating thoracic dystrophy 5, Nephronophthisis 13, Cranioectodermal dysplasia 4,
Senior-Loken syndrome 8, Spermatogenic failure 72, Asphyxiating thoracic dystrophy 5,
Senior-Loken syndrome 8		Uncertain significance
(Jan 28, 2022)		criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr4:39226510
GRCh38:
Chr4:39224890
WDR19V336I, V496IAsphyxiating thoracic dystrophy 5, Nephronophthisis 13, Cranioectodermal dysplasia 4,
Senior-Loken syndrome 8, Spermatogenic failure 72, Asphyxiating thoracic dystrophy 5,
Senior-Loken syndrome 8, Inborn genetic diseases		Uncertain significance
(Mar 2, 2022)		criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr4:39230169
GRCh38:
Chr4:39228549
WDR19Y454C, Y614CAsphyxiating thoracic dystrophy 5, Nephronophthisis 13, Cranioectodermal dysplasia 4,
Senior-Loken syndrome 8, Spermatogenic failure 72, Asphyxiating thoracic dystrophy 5,
Senior-Loken syndrome 8		Uncertain significance
(Mar 19, 2022)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr4:39280255
GRCh38:
Chr4:39278635
WDR19Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5,
Nephronophthisis 13, Cranioectodermal dysplasia 4, Senior-Loken syndrome 8,
Spermatogenic failure 72		Conflicting interpretations of pathogenicity
(Aug 31, 2022)		criteria provided, conflicting interpretations
27.
GRCh37:
Chr4:39217749
GRCh38:
Chr4:39216129
WDR19P390T, P230TAsphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8, Spermatogenic failure 72,
Asphyxiating thoracic dystrophy 5, Nephronophthisis 13, Cranioectodermal dysplasia 4,
Senior-Loken syndrome 8		Uncertain significance
(Apr 6, 2022)		criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr4:39233828
GRCh38:
Chr4:39232208
WDR19T570I, T730ISenior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Nephronophthisis 13,
Cranioectodermal dysplasia 4, Spermatogenic failure 72, Senior-Loken syndrome 8,
Asphyxiating thoracic dystrophy 5		Uncertain significance
(Sep 2, 2021)		criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr4:39233500
GRCh38:
Chr4:39231880
WDR19M529T, M689TSenior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Nephronophthisis 13,
Cranioectodermal dysplasia 4, Spermatogenic failure 72, Senior-Loken syndrome 8,
Asphyxiating thoracic dystrophy 5		Uncertain significance
(Mar 9, 2022)		criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr4:39269634
GRCh38:
Chr4:39268014
WDR19R1094H, R934HAsphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5,
Nephronophthisis 13, Cranioectodermal dysplasia 4, Senior-Loken syndrome 8,
Spermatogenic failure 72		Uncertain significance
(Apr 22, 2022)		criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr4:39184186
GRCh38:
Chr4:39182566
WDR19Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5,
Nephronophthisis 13, Cranioectodermal dysplasia 4, Senior-Loken syndrome 8,
Spermatogenic failure 72		Uncertain significance
(Sep 12, 2022)		criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr4:39219637
GRCh38:
Chr4:39218017
WDR19R304H, R464HAsphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5,
Nephronophthisis 13, Cranioectodermal dysplasia 4, Senior-Loken syndrome 8,
Spermatogenic failure 72		Uncertain significance
(Aug 23, 2022)		criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr4:39269672
GRCh38:
Chr4:39268052
WDR19Q947*, Q1107*Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Nephronophthisis 13,
Cranioectodermal dysplasia 4, Spermatogenic failure 72, Senior-Loken syndrome 8,
Asphyxiating thoracic dystrophy 5		Pathogenic/Likely pathogenic
(Jun 27, 2022)		criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr4:39207280
GRCh38:
Chr4:39205660
WDR19R272C, R112CAsphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5,
Nephronophthisis 13, Cranioectodermal dysplasia 4, Spermatogenic failure 72,
Senior-Loken syndrome 8		Uncertain significance
(Aug 8, 2022)		criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr4:39201203
GRCh38:
Chr4:39199583
WDR19T11M, T171MSenior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8,
Spermatogenic failure 72, Asphyxiating thoracic dystrophy 5, Nephronophthisis 13,
Cranioectodermal dysplasia 4		Uncertain significance
(Aug 16, 2022)		criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr4:39276508
GRCh38:
Chr4:39274888
WDR19M1056V, M1216VSenior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8,
Spermatogenic failure 72, Asphyxiating thoracic dystrophy 5, Nephronophthisis 13,
Cranioectodermal dysplasia 4		Uncertain significance
(Sep 12, 2022)		criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr4:39245896
GRCh38:
Chr4:39244276
WDR19V657E, V817EAsphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8, Nephronophthisis 13,
Cranioectodermal dysplasia 4, Spermatogenic failure 72, Asphyxiating thoracic dystrophy 5,
Senior-Loken syndrome 8		Uncertain significance
(Mar 31, 2022)		criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr4:39255603
GRCh38:
Chr4:39253983
WDR19T985K, T825KAsphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8, Spermatogenic failure 72,
Asphyxiating thoracic dystrophy 5, Nephronophthisis 13, Cranioectodermal dysplasia 4,
Senior-Loken syndrome 8		Uncertain significance
(Sep 1, 2022)		criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr4:39217515
GRCh38:
Chr4:39215895
WDR19Q179R, Q339RAsphyxiating thoracic dystrophy 5, Nephronophthisis 13, Cranioectodermal dysplasia 4,
Senior-Loken syndrome 8, Spermatogenic failure 72, Asphyxiating thoracic dystrophy 5,
Senior-Loken syndrome 8		Uncertain significance
(Mar 18, 2022)		criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr4:39279724
GRCh38:
Chr4:39278104
WDR19Cranioectodermal dysplasia 4, Asphyxiating thoracic dystrophy 5, Nephronophthisis 13,
Senior-Loken syndrome 8, not provided		Benign
(Dec 5, 2021)		criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr4:39205365
GRCh38:
Chr4:39203745
WDR19Cranioectodermal dysplasia 4, not provided, Asphyxiating thoracic dystrophy 5,
Nephronophthisis 13, Senior-Loken syndrome 8		Benign
(Dec 5, 2021)		criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr4:39245931
GRCh38:
Chr4:39244311
WDR19R669*, R829*Cone dystrophy, Spermatogenic failure 72, Nephronophthisis 13,
Cranioectodermal dysplasia 4, Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5,
Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5		Pathogenic/Likely pathogenic
(Oct 24, 2022)		criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr4:39219708
GRCh38:
Chr4:39218088
WDR19L328F, L488FCone dystrophy, Spermatogenic failure 72, Nephronophthisis 13,
Cranioectodermal dysplasia 4, Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5,
Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5		Uncertain significance
(Jun 17, 2022)		criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr4:39246124-39246125
GRCh38:
Chr4:39244504-39244505
WDR19Y708fs, Y868fsSenior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Nephronophthisis 13,
Cranioectodermal dysplasia 4		Likely pathogenic
(Jun 30, 2021)		criteria provided, single submitter
45.
GRCh37:
Chr4:39241885
GRCh38:
Chr4:39240265
WDR19not provided, Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5,
Cranioectodermal dysplasia 4, Senior-Loken syndrome 8, Spermatogenic failure 72,
Asphyxiating thoracic dystrophy 5, Nephronophthisis 13		Benign/Likely benign
(Oct 14, 2022)		criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr4:39217538
GRCh38:
Chr4:39215918
WDR19Spermatogenic failure 72, Asphyxiating thoracic dystrophy 5, Nephronophthisis 13,
Cranioectodermal dysplasia 4, Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5,
Senior-Loken syndrome 8		Benign/Likely benign
(Oct 5, 2022)		criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr4:39246134
GRCh38:
Chr4:39244514
WDR19Asphyxiating thoracic dystrophy 5, Nephronophthisis 13, Cranioectodermal dysplasia 4,
Spermatogenic failure 72, Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5,
Senior-Loken syndrome 8		Likely benign
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr4:39218854
GRCh38:
Chr4:39217234
WDR19Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8, Spermatogenic failure 72,
Asphyxiating thoracic dystrophy 5, Nephronophthisis 13, Cranioectodermal dysplasia 4,
Senior-Loken syndrome 8		Likely benign
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr4:39201204
GRCh38:
Chr4:39199584
WDR19Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Spermatogenic failure 72,
Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Nephronophthisis 13,
Cranioectodermal dysplasia 4		Likely benign
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr4:39246984
GRCh38:
Chr4:39245364
WDR19Asphyxiating thoracic dystrophy 5, Nephronophthisis 13, Cranioectodermal dysplasia 4,
Senior-Loken syndrome 8, Spermatogenic failure 72, Asphyxiating thoracic dystrophy 5,
Senior-Loken syndrome 8		Likely benign
(Mar 29, 2022)		criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr4:39230290
GRCh38:
Chr4:39228670
WDR19Spermatogenic failure 72, Asphyxiating thoracic dystrophy 5, Nephronophthisis 13,
Cranioectodermal dysplasia 4, Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5,
Senior-Loken syndrome 8		Likely benign
(Aug 29, 2022)		criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr4:39255514
GRCh38:
Chr4:39253894
WDR19Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5,
Nephronophthisis 13, Cranioectodermal dysplasia 4, Spermatogenic failure 72,
Senior-Loken syndrome 8		Likely benign
(Jun 27, 2022)		criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr4:39184187-39184189
GRCh38:
Chr4:39182567-39182569
WDR19Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8,
Nephronophthisis 13, Cranioectodermal dysplasia 4, Asphyxiating thoracic dystrophy 5,
Spermatogenic failure 72		Likely benign
(Oct 28, 2022)		criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr4:39229952
GRCh38:
Chr4:39228332
WDR19Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8, Spermatogenic failure 72,
Asphyxiating thoracic dystrophy 5, Nephronophthisis 13, Cranioectodermal dysplasia 4,
Senior-Loken syndrome 8		Likely benign
(Apr 15, 2022)		criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr4:39219595
GRCh38:
Chr4:39217975
WDR19Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8,
Asphyxiating thoracic dystrophy 5, Nephronophthisis 13, Cranioectodermal dysplasia 4,
Spermatogenic failure 72		Likely benign
(Aug 10, 2022)		criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr4:39274648
GRCh38:
Chr4:39273028
WDR19R1018W, R1178WSenior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8,
Spermatogenic failure 72, Asphyxiating thoracic dystrophy 5, Nephronophthisis 13,
Cranioectodermal dysplasia 4		Uncertain significance
(Apr 11, 2022)		criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr4:39257495
GRCh38:
Chr4:39255875
WDR19Y1010C, Y850CAsphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5,
Senior-Loken syndrome 8, Nephronophthisis 13, Cranioectodermal dysplasia 4,
Spermatogenic failure 72		Uncertain significance
(Aug 9, 2022)		criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr4:39230284
GRCh38:
Chr4:39228664
WDR19M492I, M652IAsphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8, Spermatogenic failure 72,
Asphyxiating thoracic dystrophy 5, Nephronophthisis 13, Cranioectodermal dysplasia 4,
Senior-Loken syndrome 8		Uncertain significance
(Jun 4, 2022)		criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr4:39187347
GRCh38:
Chr4:39185727
WDR19R3HAsphyxiating thoracic dystrophy 5, Nephronophthisis 13, Cranioectodermal dysplasia 4,
Spermatogenic failure 72, Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5,
Senior-Loken syndrome 8		Uncertain significance
(Dec 13, 2021)		criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr4:39233493
GRCh38:
Chr4:39231873
WDR19H527Y, H687YAsphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8, Nephronophthisis 13,
Cranioectodermal dysplasia 4, Spermatogenic failure 72, Asphyxiating thoracic dystrophy 5,
Senior-Loken syndrome 8		Uncertain significance
(Aug 16, 2022)		criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr4:39206834
GRCh38:
Chr4:39205214
WDR19P222A, P62ASenior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8,
Asphyxiating thoracic dystrophy 5, Nephronophthisis 13, Cranioectodermal dysplasia 4,
Spermatogenic failure 72		Uncertain significance
(Jul 19, 2022)		criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr4:39245910
GRCh38:
Chr4:39244290
WDR19I662V, I822VSenior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8,
Asphyxiating thoracic dystrophy 5, Nephronophthisis 13, Cranioectodermal dysplasia 4,
Spermatogenic failure 72		Conflicting interpretations of pathogenicity
(Oct 25, 2022)		criteria provided, conflicting interpretations
63.
GRCh37:
Chr4:39257515
GRCh38:
Chr4:39255895
WDR19F1017V, F857VAsphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8, Inborn genetic diseases,
Retinitis pigmentosa, Asphyxiating thoracic dystrophy 5, Spermatogenic failure 72,
Cranioectodermal dysplasia 4, Senior-Loken syndrome 8, Nephronophthisis 13
Uncertain significance
(Nov 18, 2022)		criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr4:39217592
GRCh38:
Chr4:39215972
WDR19T205A, T365AAsphyxiating thoracic dystrophy 5, Spermatogenic failure 72, Senior-Loken syndrome 8,
Nephronophthisis 13, Cranioectodermal dysplasia 4, Asphyxiating thoracic dystrophy 5,
Senior-Loken syndrome 8		Uncertain significance
(Sep 27, 2022)		criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr4:39196199
GRCh38:
Chr4:39194579
WDR19G109ESpermatogenic failure 72, Asphyxiating thoracic dystrophy 5, Nephronophthisis 13,
Cranioectodermal dysplasia 4, Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5,
Senior-Loken syndrome 8		Uncertain significance
(Feb 18, 2022)		criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr4:39196216
GRCh38:
Chr4:39194596
WDR19G115RSpermatogenic failure 72, Asphyxiating thoracic dystrophy 5, Nephronophthisis 13,
Cranioectodermal dysplasia 4, Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5,
Senior-Loken syndrome 8		Uncertain significance
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr4:39217815
GRCh38:
Chr4:39216195
WDR19V252I, V412IAsphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5,
Nephronophthisis 13, Cranioectodermal dysplasia 4, Spermatogenic failure 72,
Senior-Loken syndrome 8		Uncertain significance
(Aug 10, 2022)		criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr4:39280208
GRCh38:
Chr4:39278588
WDR19A1163T, A1323TAsphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5,
Nephronophthisis 13, Cranioectodermal dysplasia 4, Spermatogenic failure 72,
Senior-Loken syndrome 8		Uncertain significance
(Jun 13, 2022)		criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr4:39233527
GRCh38:
Chr4:39231907
WDR19Y538S, Y698SSpermatogenic failure 72, Asphyxiating thoracic dystrophy 5, Nephronophthisis 13,
Cranioectodermal dysplasia 4, Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5,
Senior-Loken syndrome 8, not provided		Uncertain significance
(Oct 4, 2022)		criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr4:39217626
GRCh38:
Chr4:39216006
WDR19V216A, V376ASpermatogenic failure 72, Asphyxiating thoracic dystrophy 5, Nephronophthisis 13,
Cranioectodermal dysplasia 4, Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5,
Senior-Loken syndrome 8		Uncertain significance
(Jul 19, 2022)		criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr4:39274618
GRCh38:
Chr4:39272998
WDR19D1168N, D1008NAsphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8, Spermatogenic failure 72,
Asphyxiating thoracic dystrophy 5, Nephronophthisis 13, Cranioectodermal dysplasia 4,
Senior-Loken syndrome 8, Inborn genetic diseases		Uncertain significance
(Aug 3, 2022)		criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr4:39217753
GRCh38:
Chr4:39216133
WDR19N231S, N391SAsphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8, Spermatogenic failure 72,
Asphyxiating thoracic dystrophy 5, Nephronophthisis 13, Cranioectodermal dysplasia 4,
Senior-Loken syndrome 8		Uncertain significance
(Aug 23, 2022)		criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr4:39276521
GRCh38:
Chr4:39274901
WDR19P1220L, P1060LAsphyxiating thoracic dystrophy 5, Nephronophthisis 13, Cranioectodermal dysplasia 4,
Senior-Loken syndrome 8, Spermatogenic failure 72, Asphyxiating thoracic dystrophy 5,
Senior-Loken syndrome 8		Uncertain significance
(Jun 20, 2022)		criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr4:39278672
GRCh38:
Chr4:39277052
WDR19T1090M, T1250MSpermatogenic failure 72, Asphyxiating thoracic dystrophy 5, Nephronophthisis 13,
Cranioectodermal dysplasia 4, Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5,
Senior-Loken syndrome 8		Uncertain significance
(Jul 6, 2022)		criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr4:39217617
GRCh38:
Chr4:39215997
WDR19A213G, A373GInborn genetic diseases, Senior-Loken syndrome 8, Spermatogenic failure 72,
Asphyxiating thoracic dystrophy 5, Nephronophthisis 13, Cranioectodermal dysplasia 4,
Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5		Uncertain significance
(Aug 16, 2022)		criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr4:39271605
GRCh38:
Chr4:39269985
WDR19R963Q, R1123QConnective tissue disorder, Asphyxiating thoracic dystrophy 5, Spermatogenic failure 72,
Nephronophthisis 13, Cranioectodermal dysplasia 4, Senior-Loken syndrome 8,
Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8		Uncertain significance
(Aug 16, 2022)		criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr4:39279784
GRCh38:
Chr4:39278164
WDR19C1132R, C1292RCranioectodermal dysplasia 4Uncertain significance
(Dec 15, 2018)		criteria provided, single submitter
78.
GRCh37:
Chr4:39196152-39196153
GRCh38:
Chr4:39194532-39194533
WDR19Cranioectodermal dysplasia 4Uncertain significance
(Jan 1, 2016)		criteria provided, single submitter
79.
GRCh37:
Chr4:39276545
GRCh38:
Chr4:39274925
WDR19A1068G, A1228GCranioectodermal dysplasia 4, WDR19-related condition, Connective tissue disorder,
Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5,
Spermatogenic failure 72, Asphyxiating thoracic dystrophy 5, Nephronophthisis 13,
Cranioectodermal dysplasia 4, Senior-Loken syndrome 8Inborn genetic diseases,
...see more		Uncertain significance
(Apr 30, 2023)		criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr4:39257534
GRCh38:
Chr4:39255914
WDR19Y863S, Y1023SAsphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5,
Cranioectodermal dysplasia 4		Uncertain significance
(Mar 27, 2022)		criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr4:39257508
GRCh38:
Chr4:39255888
WDR19Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5,
Cranioectodermal dysplasia 4		Conflicting interpretations of pathogenicity
(Dec 24, 2021)		criteria provided, conflicting interpretations
82.
GRCh37:
Chr4:39233890
GRCh38:
Chr4:39232270
WDR19E751K, E591KAsphyxiating thoracic dystrophy 5, Cranioectodermal dysplasia 4Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
83.
GRCh37:
Chr4:39201170
GRCh38:
Chr4:39199550
WDR19K160RAsphyxiating thoracic dystrophy 5, Cranioectodermal dysplasia 4, Senior-Loken syndrome 8,
Asphyxiating thoracic dystrophy 5, Nephronophthisis 13, Cranioectodermal dysplasia 4,
Spermatogenic failure 72, Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5,
Inborn genetic diseases		Uncertain significance
(May 23, 2023)		criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr4:39274585
GRCh38:
Chr4:39272965
WDR19Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8, Cranioectodermal dysplasia 4,
Asphyxiating thoracic dystrophy 5		Conflicting interpretations of pathogenicity
(Oct 17, 2022)		criteria provided, conflicting interpretations
85.
GRCh37:
Chr4:39271731
GRCh38:
Chr4:39270111
WDR19Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8, Cranioectodermal dysplasia 4,
Asphyxiating thoracic dystrophy 5		Conflicting interpretations of pathogenicity
(Sep 9, 2022)		criteria provided, conflicting interpretations
86.
GRCh37:
Chr4:39254908
GRCh38:
Chr4:39253288
WDR19A958P, A798PCranioectodermal dysplasia 4, Asphyxiating thoracic dystrophy 5Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
87.
GRCh37:
Chr4:39233521
GRCh38:
Chr4:39231901
WDR19R536H, R696HInborn genetic diseases, Cranioectodermal dysplasia 4, Asphyxiating thoracic dystrophy 5,
Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Spermatogenic failure 72,
Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Nephronophthisis 13,
Cranioectodermal dysplasia 4		Uncertain significance
(Jan 26, 2023)		criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr4:39230288
GRCh38:
Chr4:39228668
WDR19A494T, A654TCranioectodermal dysplasia 4, Asphyxiating thoracic dystrophy 5Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
89.
GRCh37:
Chr4:39191282
GRCh38:
Chr4:39189662
WDR19Cranioectodermal dysplasia 4, Asphyxiating thoracic dystrophy 5Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
90.
GRCh37:
Chr4:39188188
GRCh38:
Chr4:39186568
WDR19R43HAsphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5,
Cranioectodermal dysplasia 4		Uncertain significance
(Jul 27, 2022)		criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr4:39287389
GRCh38:
Chr4:39285769
WDR19Cranioectodermal dysplasia 4, Asphyxiating thoracic dystrophy 5Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
92.
GRCh37:
Chr4:39287217
GRCh38:
Chr4:39285597
WDR19Cranioectodermal dysplasia 4, Asphyxiating thoracic dystrophy 5Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
93.
GRCh37:
Chr4:39271725
GRCh38:
Chr4:39270105
WDR19Cranioectodermal dysplasia 4, WDR19-related condition, Connective tissue disorder,
Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5,
Spermatogenic failure 72, Asphyxiating thoracic dystrophy 5, Nephronophthisis 13,
Cranioectodermal dysplasia 4, Senior-Loken syndrome 8 ...see more		Uncertain significance
(Apr 30, 2023)		criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr4:39271673
GRCh38:
Chr4:39270053
WDR19E1146K, E986KInborn genetic diseases, Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5,
Asphyxiating thoracic dystrophy 5, Cranioectodermal dysplasia 4, Cranioectodermal dysplasia 4,
Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Spermatogenic failure 72,
Nephronophthisis 13		Uncertain significance
(Aug 16, 2022)		criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr4:39245876
GRCh38:
Chr4:39244256
WDR19D650E, D810ECranioectodermal dysplasia 4, Asphyxiating thoracic dystrophy 5Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
96.
GRCh37:
Chr4:39229975
GRCh38:
Chr4:39228355
WDR19Q432L, Q592LSenior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Cranioectodermal dysplasia 4,
Asphyxiating thoracic dystrophy 5, Cranioectodermal dysplasia 4, Senior-Loken syndrome 8,
Asphyxiating thoracic dystrophy 5, Spermatogenic failure 72, Nephronophthisis 13
Uncertain significance
(May 6, 2022)		criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr4:39287199
GRCh38:
Chr4:39285579
WDR19Cranioectodermal dysplasia 4, Asphyxiating thoracic dystrophy 5Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
98.
GRCh37:
Chr4:39287176
GRCh38:
Chr4:39285556
WDR19Cranioectodermal dysplasia 4, Asphyxiating thoracic dystrophy 5Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
99.
GRCh37:
Chr4:39241919
GRCh38:
Chr4:39240299
WDR19A636T, A796Tnot provided, Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5,
Cranioectodermal dysplasia 4, Asphyxiating thoracic dystrophy 5		Conflicting interpretations of pathogenicity
(Oct 24, 2022)		criteria provided, conflicting interpretations
100.
GRCh37:
Chr4:39229839
GRCh38:
Chr4:39228219
WDR19A387T, A547TCranioectodermal dysplasia 4, Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8,
Asphyxiating thoracic dystrophy 5, Cranioectodermal dysplasia 4, Senior-Loken syndrome 8,
Asphyxiating thoracic dystrophy 5, Spermatogenic failure 72, Nephronophthisis 13
Uncertain significance
(Jun 22, 2022)		criteria provided, multiple submitters, no conflicts
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