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Results: 12

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr2:109513566
GRCh38:
Chr2:108897110
EDARAutosomal recessive hypohidrotic ectodermal dysplasia syndromePathogenic
(Oct 14, 2014)
criteria provided, single submitter
2.
GRCh37:
Chr1:236645703-236645708
GRCh38:
Chr1:236482403-236482408
EDARADDAutosomal recessive hypohidrotic ectodermal dysplasia syndromePathogenic
(Dec 29, 2011)
no assertion criteria provided
3.
EDARAutosomal recessive hypohidrotic ectodermal dysplasia syndromePathogenic
(Jul 23, 2015)
no assertion criteria provided
4.
EDARAutosomal recessive hypohidrotic ectodermal dysplasia syndromePathogenic
(Nov 20, 2012)
no assertion criteria provided
5.
GRCh37:
Chr2:109545681
GRCh38:
Chr2:108929225
EDARAutosomal recessive hypohidrotic ectodermal dysplasia syndromePathogenic
(Nov 20, 2012)
no assertion criteria provided
6.
GRCh37:
Chr2:109513586
GRCh38:
Chr2:108897130
EDARAutosomal recessive hypohidrotic ectodermal dysplasia syndromePathogenic
(Jul 23, 2015)
no assertion criteria provided
7.
EDARAutosomal recessive hypohidrotic ectodermal dysplasia syndromePathogenic
(Nov 20, 2012)
no assertion criteria provided
8.
GRCh37:
Chr2:109545751
GRCh38:
Chr2:108929295
EDARAutosomal recessive hypohidrotic ectodermal dysplasia syndromePathogenic
(Jul 23, 2015)
no assertion criteria provided
9.
EDARAutosomal recessive hypohidrotic ectodermal dysplasia syndromePathogenic
(Jul 23, 2015)
no assertion criteria provided
10.
GRCh37:
Chr2:109545744
GRCh38:
Chr2:108929288
EDARAutosomal recessive hypohidrotic ectodermal dysplasia syndrome, ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANTPathogenic
(Jul 23, 2015)
no assertion criteria provided
11.
EDARAutosomal recessive hypohidrotic ectodermal dysplasia syndromePathogenic
(Nov 20, 2012)
no assertion criteria provided
12.
GRCh37:
Chr1:236645755
GRCh38:
Chr1:236482455
EDARADDAutosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessivePathogenic
(Nov 20, 2012)
no assertion criteria provided

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