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Items: 50

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
EDARAutosomal recessive hypohidrotic ectodermal dysplasia syndromePathogenic
(Aug 1, 1999)
no assertion criteria provided
2.
EDARAutosomal recessive hypohidrotic ectodermal dysplasia syndromePathogenic
(Aug 1, 1999)
no assertion criteria provided
3.
GRCh37:
Chr2:109513321
GRCh38:
Chr2:108896865
RANBP2, EDARnot providedGMAF:0.11700(C)not providedno assertion provided
4.
GRCh37:
Chr2:109513347
GRCh38:
Chr2:108896891
RANBP2, EDARnot specifiedGMAF:0.00040(G)Likely benigncriteria provided, single submitter
5.
GRCh37:
Chr2:109513426
GRCh38:
Chr2:108896970
RANBP2, EDARAutosomal dominant hypohidrotic ectodermal dysplasiaLikely pathogenic
(Jul 21, 2016)
no assertion criteria provided
6.
GRCh37:
Chr2:109513451
GRCh38:
Chr2:108896995
RANBP2, EDARAutosomal dominant hypohidrotic ectodermal dysplasia, not provided, Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant
Pathogenic/Likely pathogenic
(Jul 25, 2016)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr2:109513566
GRCh38:
Chr2:108897110
RANBP2, EDARAutosomal recessive hypohidrotic ectodermal dysplasia syndrome, not providedPathogenic
(May 28, 2015)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr2:109513572
GRCh38:
Chr2:108897116
RANBP2, EDARnot specifiedGMAF:0.00640(G)Benigncriteria provided, single submitter
9.
GRCh37:
Chr2:109513586
GRCh38:
Chr2:108897130
RANBP2, EDARAutosomal recessive hypohidrotic ectodermal dysplasia syndromePathogenic
(Oct 1, 2004)
no assertion criteria provided
10.
GRCh37:
Chr2:109513589
GRCh38:
Chr2:108897133
RANBP2, EDARnot providedPathogenic
(Mar 25, 2015)
criteria provided, single submitter
11.
GRCh37:
Chr2:109513601
GRCh38:
Chr2:108897145
RANBP2, EDARHair morphology 1, hair thickness, not specifiedGO-ESP:0.01038(G)
GMAF:0.23560(G)
Benign, association
(Aug 4, 2016)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr2:109513637
GRCh38:
Chr2:108897181
RANBP2, EDARnot providedPathogenic
(Aug 16, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr2:109513638
GRCh38:
Chr2:108897182
RANBP2, EDARnot provided, Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominantPathogenic
(Jan 18, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr2:109513650
GRCh38:
Chr2:108897194
RANBP2, EDAREctodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominantPathogenic
(Jun 1, 2008)
no assertion criteria provided
15.
GRCh37:
Chr2:109513654
GRCh38:
Chr2:108897198
RANBP2, EDARnot specified, not providedGMAF:0.28810(G)Conflicting interpretations of pathogenicity
(Nov 12, 2014)
criteria provided, conflicting interpretations
16.
GRCh37:
Chr2:109522720
GRCh38:
Chr2:108906264
RANBP2, EDARnot providedGMAF:0.32570(G)Uncertain significanceno assertion criteria provided
17.
GRCh37:
Chr2:109522748
GRCh38:
Chr2:108906292
RANBP2, EDARnot specified, not providedGMAF:0.24440(-)Conflicting interpretations of pathogenicitycriteria provided, conflicting interpretations
18.
GRCh37:
Chr2:109524409
GRCh38:
Chr2:108907953
RANBP2, EDARnot specifiedGMAF:0.01200(A)Benigncriteria provided, single submitter
19.
GRCh37:
Chr2:109524457
GRCh38:
Chr2:108908001
RANBP2, EDARnot specifiedGMAF:0.02240(T)Benigncriteria provided, single submitter
20.
GRCh37:
Chr2:109526915
GRCh38:
Chr2:108910459
RANBP2, EDARAutosomal recessive hypohidrotic ectodermal dysplasia syndromePathogenic
(Oct 15, 2008)
no assertion criteria provided
21.
GRCh37:
Chr2:109526969
GRCh38:
Chr2:108910513
RANBP2, EDARnot specified, not providedGMAF:0.07870(G)Conflicting interpretations of pathogenicity
(Jan 13, 2014)
criteria provided, conflicting interpretations
22.
GRCh37:
Chr2:109527050
GRCh38:
Chr2:108910594
RANBP2, EDARnot providedGMAF:0.00120(C)Uncertain significanceno assertion criteria provided
23.
GRCh37:
Chr2:109527087
GRCh38:
Chr2:108910631
RANBP2, EDARnot providedGMAF:0.33450(G)Uncertain significanceno assertion criteria provided
24.
GRCh37:
Chr2:109527240-109527243
GRCh38:
Chr2:108910784-108910787
RANBP2, EDARAutosomal recessive hypohidrotic ectodermal dysplasia syndromePathogenic
(Jul 1, 2005)
no assertion criteria provided
25.
GRCh37:
Chr2:109527373
GRCh38:
Chr2:108910917
RANBP2, EDARnot providedGMAF:0.07250(A)Uncertain significanceno assertion criteria provided
26.
GRCh37:
Chr2:109529200
GRCh38:
Chr2:108912744
RANBP2, EDARnot specifiedUncertain significance
(Jun 29, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr2:109539913
GRCh38:
Chr2:108923457
RANBP2, EDARnot specifiedGMAF:0.09150(T)Benign
(Jan 13, 2014)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr2:109545681
GRCh38:
Chr2:108929225
RANBP2, EDARAutosomal recessive hypohidrotic ectodermal dysplasia syndromePathogenic
(Jun 1, 2008)
no assertion criteria provided
29.
GRCh37:
Chr2:109545691
GRCh38:
Chr2:108929235
RANBP2, EDARnot specifiedGMAF:0.01880(C)Benigncriteria provided, single submitter
30.
GRCh37:
Chr2:109545744
GRCh38:
Chr2:108929288
RANBP2, EDARAutosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominantPathogenic
(Jun 1, 2008)
no assertion criteria provided
31.
GRCh37:
Chr2:109545751
GRCh38:
Chr2:108929295
RANBP2, EDARAutosomal recessive hypohidrotic ectodermal dysplasia syndromePathogenic
(Aug 1, 1999)
no assertion criteria provided
32.
GRCh37:
Chr2:109545798
GRCh38:
Chr2:108929342
RANBP2, EDARnot providedPathogenic
(Dec 11, 2015)
criteria provided, single submitter
33.
GRCh37:
Chr2:109545803
GRCh38:
Chr2:108929347
RANBP2, EDARnot providedGMAF:0.00140(A)not providedno assertion provided
34.
GRCh37:
Chr2:109547419
GRCh38:
Chr2:108930963
RANBP2, EDARAutosomal recessive hypohidrotic ectodermal dysplasia syndromePathogenic
(Oct 1, 2004)
no assertion criteria provided
35.
GRCh37:
Chr2:106423310-115054828
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr2:109556627-117570152
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr2:109526882-109529154
GRCh38:
Chr2:108910426-108912698
RANBP2, EDARHypohidrotic ectodermal dysplasiaPathogenic
(Mar 9, 2015)
criteria provided, single submitter
38.
GRCh37:
Chr2:109513363-109522790
GRCh38:
Chr2:108896907-108906334
RANBP2, EDARHypohidrotic ectodermal dysplasiaPathogenic
(Jan 22, 2014)
criteria provided, single submitter
39.
GRCh37:
Chr2:109210332-110457756
GRCh38:
Chr2:108593876-109700179
LIMS1, RANBP2, EDAR, SOWAHC, SEPT10, CCDC138, SH3RF3, SH3RF3-AS1, MIR4265, MIR4266See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
40.
GRCh37:
Chr2:109143322-110504318
GRCh38:
Chr2:108526866-109746741
See casesUncertain significance
(Sep 23, 2013)
no assertion criteria provided
41.
GRCh37:
Chr2:109277169-110492791
GRCh38:
Chr2:108660713-109735214
LIMS1, RANBP2, EDAR, SOWAHC, SEPT10, CCDC138, SH3RF3, SH3RF3-AS1, MIR4265, MIR4266See casesUncertain significanceno assertion criteria provided
42.
GRCh37:
Chr2:95344257-111359986
GRCh38:
Chr2:94678532-110602409
See casesPathogenic
(Apr 30, 2011)
no assertion criteria provided
43.
GRCh37:
Chr2:107045119-113136644
GRCh38:
Chr2:106428663-112379067
See casesUncertain significance
(Jan 9, 2013)
no assertion criteria provided
44.
GRCh37:
Chr2:107132928-111334482
GRCh38:
Chr2:106516472-110576905
See casesUncertain significance
(Sep 21, 2012)
no assertion criteria provided
45.
GRCh37:
Chr2:102327287-111548995
GRCh38:
Chr2:101710825-110791418
See casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
46.
GRCh37:
Chr2:109335581-111368891
GRCh38:
Chr2:108719125-110611314
See casesUncertain significance
(Jul 5, 2011)
no assertion criteria provided
47.
GRCh37:
Chr2:109210332-110457756
GRCh38:
Chr2:108593876-109700179
LIMS1, RANBP2, EDAR, SOWAHC, SEPT10, CCDC138, SH3RF3, SH3RF3-AS1, MIR4265, MIR4266See casesUncertain significance
(Dec 22, 2010)
no assertion criteria provided
48.
GRCh37:
Chr2:107312738-110980905
GRCh38:
Chr2:106696282-110223328
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
49.
GRCh37:
Chr2:98288985-110968895
GRCh38:
Chr2:97672522-110211318
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
50.
GRCh37:
Chr2:109195457-110494136
GRCh38:
Chr2:108579001-109736559
LIMS1, RANBP2, EDAR, SOWAHC, SEPT10, CCDC138, SH3RF3, SH3RF3-AS1, MIR4265, MIR4266See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
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