U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 33

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr2:109513653
GRCh38:
Chr2:108897197
EDAR, RANBP2L353FEctodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessiveUncertain significance
(Jun 30, 2021)
criteria provided, single submitter
2.
GRCh37:
Chr2:109539824
GRCh38:
Chr2:108923368
EDAR, RANBP2C148REctodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessiveLikely pathogenic
(Aug 31, 2023)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr2:109545806
GRCh38:
Chr2:108929350
EDAR, RANBP2Y69fsEctodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessivePathogenic
(Feb 13, 2021)
criteria provided, single submitter
4.
GRCh37:
Chr1:236647021
GRCh38:
Chr1:236483721
EDARADDEctodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessiveUncertain significance
(Apr 27, 2017)
criteria provided, single submitter
5.
GRCh37:
Chr1:236647911
GRCh38:
Chr1:236484611
EDARADDEctodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessiveUncertain significance
(Apr 27, 2017)
criteria provided, single submitter
6.
GRCh37:
Chr1:236646507
GRCh38:
Chr1:236483207
EDARADDEctodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessiveUncertain significance
(Apr 27, 2017)
criteria provided, single submitter
7.
GRCh37:
Chr2:109546657
GRCh38:
Chr2:108930201
EDAR, RANBP2C31*Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessivePathogenic
(Feb 5, 2020)
no assertion criteria provided
8.
GRCh37:
Chr2:109367964-109579739
GRCh38:
Chr2:108751508-108963283
EDAR, CCDC138, LOC126806303, RANBP2Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessiveUncertain significance
(Sep 19, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr2:109336043-109579739
GRCh38:
Chr2:108719587-108963283
CCDC138, EDAR, LOC126806303, RANBP2Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive,
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Uncertain significance
(Sep 16, 2021)
criteria provided, single submitter
10.
GRCh37:
Chr2:109545682
GRCh38:
Chr2:108929226
EDAR, RANBP2D110NEctodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, not provided
Uncertain significance
(Oct 27, 2022)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr2:109513410
GRCh38:
Chr2:108896954
EDAR, RANBP2W434GEctodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessivePathogenic
(Apr 12, 2018)
no assertion criteria provided
12.
GRCh37:
Chr2:109545803
GRCh38:
Chr2:108929347
EDAR, RANBP2G70fsEctodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessivePathogenic
(Apr 12, 2018)
no assertion criteria provided
13.
GRCh37:
Chr2:109545718
GRCh38:
Chr2:108929262
RANBP2, EDARR98WEctodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive,
not provided
Pathogenic/Likely pathogenic
(Aug 27, 2022)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr2:109545732
GRCh38:
Chr2:108929276
EDAR, RANBP2C93SEctodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessivePathogenic
(Dec 18, 2017)
criteria provided, single submitter
15.
GRCh37:
Chr2:109527239
GRCh38:
Chr2:108910783
EDAR, RANBP2Hypohidrotic ectodermal dysplasia, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant,
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Hair morphology 1,
not provided
Benign/Likely benign
(Oct 27, 2022)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr1:236646631
GRCh38:
Chr1:236483331
EDARADDEctodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessiveLikely benign
(Apr 27, 2017)
criteria provided, single submitter
17.
GRCh37:
Chr1:236646627
GRCh38:
Chr1:236483327
EDARADDEctodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessiveLikely benign
(Apr 27, 2017)
criteria provided, single submitter
18.
GRCh37:
Chr2:109524409
GRCh38:
Chr2:108907953
EDAR, RANBP2not provided, not specified, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant,
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Hypohidrotic ectodermal dysplasia, Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive,
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Hair morphology 1
Benign/Likely benign
(Oct 27, 2022)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr2:109526969
GRCh38:
Chr2:108910513
EDAR, RANBP2Hypohidrotic Ectodermal Dysplasia, Dominant, Hypohidrotic ectodermal dysplasia, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant,
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, not specified, not provided,
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
Benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr2:109527373
GRCh38:
Chr2:108910917
EDAR, RANBP2not provided, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
Benign
(Jul 30, 2021)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr2:109513654
GRCh38:
Chr2:108897198
EDAR, RANBP2Hypohidrotic Ectodermal Dysplasia, Dominant, Hypohidrotic ectodermal dysplasia, Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive,
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome,
not specified, not provided
Benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr2:109522720
GRCh38:
Chr2:108906264
EDAR, RANBP2not provided, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
Benign
(Jul 30, 2021)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr2:109513321
GRCh38:
Chr2:108896865
EDAR, RANBP2Hypohidrotic Ectodermal Dysplasia, Dominant, Hypohidrotic ectodermal dysplasia, not provided,
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Benign
(Jul 30, 2021)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr2:109526915
GRCh38:
Chr2:108910459
EDAR, RANBP2Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessivePathogenic
(Oct 15, 2008)
no assertion criteria provided
25.
GRCh37:
Chr2:109527240-109527243
GRCh38:
Chr2:108910784-108910787
EDAR, RANBP2K240fsEctodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessivePathogenic/Likely pathogenic
(Jan 3, 2022)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr2:109513601
GRCh38:
Chr2:108897145
EDAR, RANBP2V370AHypohidrotic Ectodermal Dysplasia, Dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant,
Hypohidrotic ectodermal dysplasia, not specified, not provided,
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr2:109545681
GRCh38:
Chr2:108929225
EDAR, RANBP2D110AEctodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessivePathogenic
(Jun 1, 2008)
no assertion criteria provided
28.
GRCh37:
Chr2:109513586
GRCh38:
Chr2:108897130
EDAR, RANBP2R375HEctodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessivePathogenic
(Oct 1, 2004)
no assertion criteria provided
29.
GRCh37:
Chr2:109547419
GRCh38:
Chr2:108930963
EDAR, RANBP2Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessivePathogenic
(Oct 1, 2004)
no assertion criteria provided
30.
GRCh37:
Chr2:109545751
GRCh38:
Chr2:108929295
EDAR, RANBP2C87REctodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
Uncertain significance
(Aug 1, 2018)
criteria provided, multiple submitters, no conflicts
31.
GRCh38:
Chr2:108894471-108989220
EDAR, LOC126806303, LOC126806304, RANBP2Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessivePathogenic
(Aug 1, 1999)
no assertion criteria provided
32.
GRCh37:
Chr2:109545744
GRCh38:
Chr2:108929288
RANBP2, EDARR89HAutosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Pathogenic
(Sep 22, 2022)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr2:109546706-109546723
GRCh38:
Chr2:108930250-108930267
EDAR, RANBP2Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessivePathogenic
(Aug 1, 1999)
no assertion criteria provided
Format
Items per page
Sort by
Choose Destination