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Links from MedGen

Items: 35

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr4:39226647
GRCh38:
Chr4:39225027
WDR19Y541*, Y381*Spermatogenic failure 72, Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5,
Nephronophthisis 13, Cranioectodermal dysplasia 4, Senior-Loken syndrome 8,
Asphyxiating thoracic dystrophy 5, Cranioectodermal dysplasia		Pathogenic/Likely pathogenic
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr16:1612008
GRCh38:
Chr16:1562007
IFT140P726LCranioectodermal dysplasia, Saldino-Mainzer syndromePathogenic
(Jan 1, 2018)		criteria provided, single submitter
3.
GRCh37:
Chr16:1565628-1565629
GRCh38:
Chr16:1515627-1515628
IFT140Cranioectodermal dysplasia, Saldino-Mainzer syndrome, Saldino-Mainzer syndrome,
Joubert syndrome with Jeune asphyxiating thoracic dystrophy, Saldino-Mainzer syndrome		Pathogenic
(Jan 1, 2018)		criteria provided, single submitter
4.
GRCh37:
Chr4:39287383-39287384
GRCh38:
Chr4:39285763-39285764
WDR19Jeune thoracic dystrophy, Cranioectodermal dysplasiaUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
5.
GRCh37:
Chr4:39271599
GRCh38:
Chr4:39269979
WDR19N1121S, N961SJeune thoracic dystrophy, Cranioectodermal dysplasia, Connective tissue disorder,
Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5		Uncertain significance
(Aug 9, 2022)		criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr4:39217839
GRCh38:
Chr4:39216219
WDR19Cranioectodermal dysplasia, Jeune thoracic dystrophy, Connective tissue disorder,
Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5		Conflicting interpretations of pathogenicity
(Sep 29, 2022)		criteria provided, conflicting interpretations
7.
GRCh37:
Chr4:39217829
GRCh38:
Chr4:39216209
WDR19Cranioectodermal dysplasia, Jeune thoracic dystrophy, 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
(Sep 19, 2022)		criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr4:39217646
GRCh38:
Chr4:39216026
WDR19Cranioectodermal dysplasia, Jeune thoracic dystrophy, Senior-Loken syndrome 8,
Asphyxiating thoracic dystrophy 5		Conflicting interpretations of pathogenicity
(Oct 24, 2022)		criteria provided, conflicting interpretations
9.
GRCh37:
Chr4:39184117-39184118
GRCh38:
Chr4:39182497-39182498
LOC112939934, WDR19Jeune thoracic dystrophy, Cranioectodermal dysplasiaUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
10.
GRCh37:
Chr3:129223243
GRCh38:
Chr3:129504400
IFT122R928C, R869C, R668C, R818C, R727C, R766C, R877CCranioectodermal dysplasia, Cranioectodermal dysplasia 1Uncertain significance
(Apr 6, 2022)		criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr3:129207191
GRCh38:
Chr3:129488348
IFT122E699A, E537A, E439A, E498A, E589A, E640A, E648ACranioectodermal dysplasia, Cranioectodermal dysplasia 1, not provided
Benign/Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr3:129202387
GRCh38:
Chr3:129483544
IFT122Cranioectodermal dysplasia, Connective tissue disorder, not provided,
Cranioectodermal dysplasia 1		Benign/Likely benign
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr3:129180119
GRCh38:
Chr3:129461276
IFT122not specified, Cranioectodermal dysplasia, Connective tissue disorder,
not provided, Cranioectodermal dysplasia 1		Conflicting interpretations of pathogenicity
(Dec 1, 2022)		criteria provided, conflicting interpretations
14.
GRCh37:
Chr3:129170742
GRCh38:
Chr3:129451899
IFT122Cranioectodermal dysplasia, Cranioectodermal dysplasia 1, not specified
Benign/Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr2:20192696
GRCh38:
Chr2:19992935
MATN3, WDR35, WDR35-DTMultiple Epiphyseal Dysplasia, Dominant, not provided, Multiple epiphyseal dysplasia type 5,
Short rib-polydactyly syndrome, Cranioectodermal dysplasia		Benign
(Nov 12, 2018)		criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr2:20189015
GRCh38:
Chr2:19989254
MATN3, WDR35Q18RMultiple Epiphyseal Dysplasia, Dominant, not specified, Cranioectodermal dysplasia 2,
Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly,
Short rib-polydactyly syndrome, Cranioectodermal dysplasia		Benign/Likely benign
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr2:20145756
GRCh38:
Chr2:19945995
WDR35R557C, R546CCranioectodermal dysplasia, Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2,
not provided, Short rib-polydactyly syndrome, Inborn genetic diseases,
Short-rib thoracic dysplasia 7 with or without polydactyly		Uncertain significance
(Aug 28, 2023)		criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr2:20145639
GRCh38:
Chr2:19945878
WDR35V596I, V585IShort rib-polydactyly syndrome, Cranioectodermal dysplasiaUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
19.
GRCh37:
Chr2:20131038
GRCh38:
Chr2:19931277
WDR35S997G, S986GShort rib-polydactyly syndrome, Cranioectodermal dysplasiaUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
20.
GRCh37:
Chr2:20111742-20111743
GRCh38:
Chr2:19911981-19911982
WDR35Short rib-polydactyly syndrome, Cranioectodermal dysplasiaLikely benign
(Jun 14, 2016)		criteria provided, single submitter
21.
GRCh37:
Chr2:20111283-20111286
GRCh38:
Chr2:19911522-19911525
WDR35Short rib-polydactyly syndrome, Cranioectodermal dysplasiaUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
22.
GRCh37:
Chr2:20111031
GRCh38:
Chr2:19911270
WDR35Short rib-polydactyly syndrome, Cranioectodermal dysplasiaUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
23.
GRCh37:
Chr14:76447850
GRCh38:
Chr14:75981507
IFT43, TGFB3not provided, Cranioectodermal dysplasia, Arrhythmogenic right ventricular cardiomyopathy
Benign/Likely benign
(Jun 18, 2018)		criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr14:76447779
GRCh38:
Chr14:75981436
IFT43, TGFB3Cranioectodermal dysplasia, Arrhythmogenic right ventricular cardiomyopathyLikely benign
(Jun 14, 2016)		criteria provided, single submitter
25.
GRCh37:
Chr4:39219680
GRCh38:
Chr4:39218060
WDR19I478M, I318MCranioectodermal dysplasia, Senior-Loken syndrome 8Pathogenic/Likely pathogenic
(Apr 29, 2021)		no assertion criteria provided
26.
GRCh37:
Chr3:129185924
GRCh38:
Chr3:129467081
IFT122Cranioectodermal dysplasia, not specified, Cranioectodermal dysplasia 1
Benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr3:129214302
GRCh38:
Chr3:129495459
IFT122, LOC126806810R738Q, R679Q, R478Q, R687Q, R537Q, R576Q, R628Qnot specified, not provided, Cranioectodermal dysplasia,
Cranioectodermal dysplasia 1		Benign/Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr3:129202316
GRCh38:
Chr3:129483473
IFT122Cranioectodermal dysplasia, Cranioectodermal dysplasia 1, not specified
Benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr2:20192931
GRCh38:
Chr2:19993170
MATN3, WDR35, WDR35-DTShort rib-polydactyly syndrome, not specified, Cranioectodermal dysplasia,
Multiple Epiphyseal Dysplasia, Dominant, not provided, Multiple epiphyseal dysplasia type 5
Benign/Likely benign
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr4:39241882-39241883
GRCh38:
Chr4:39240262-39240263
WDR19Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Jeune thoracic dystrophy,
Cranioectodermal dysplasia, not provided		Conflicting interpretations of pathogenicity
(Oct 31, 2022)		criteria provided, conflicting interpretations
31.
GRCh37:
Chr3:129210977
GRCh38:
Chr3:129492134
IFT122Cranioectodermal dysplasia, not specified, Cranioectodermal dysplasia 1
Benign
(Oct 18, 2022)		criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr3:129218913
GRCh38:
Chr3:129500070
IFT122Cranioectodermal dysplasiaPathogenicno assertion criteria provided
33.
GRCh37:
Chr4:39274649
GRCh38:
Chr4:39273029
WDR19R1178Q, R1018QSenior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8,
Nephronophthisis 13, Senior-Loken syndrome 8, Cranioectodermal dysplasia,
not provided, Leber congenital amaurosis		Conflicting interpretations of pathogenicity
(Aug 26, 2023)		criteria provided, conflicting interpretations
34.
GRCh37:
Chr3:129198760
GRCh38:
Chr3:129479917
IFT122G546R, G436R, G384R, G495R, G345R, G487R, G286RCranioectodermal dysplasiaUncertain significance
(May 1, 2018)		criteria provided, single submitter
35.
GRCh37:
Chr2:20141557
GRCh38:
Chr2:19941796
WDR35L641*, L630*WDR35-Related Disorders, Cranioectodermal dysplasia, Short-rib thoracic dysplasia 7 with or without polydactyly,
Cranioectodermal dysplasia 2, Cranioectodermal dysplasia 2, not provided
Pathogenic/Likely pathogenic
(May 26, 2023)		criteria provided, multiple submitters, no conflicts
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