### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = EDARADD) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "EDARADD" "EDAR-associated death domain" "1" "q42.3" "unknown" "NG_011566.1" "UD_132118693180" "" "http://www.LOVD.nl/EDARADD" "" "1" "14341" "128178" "606603" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/EDARADD_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-01-24 23:24:57" "00000" "2025-07-08 13:22:38" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00006861" "EDARADD" "transcript variant A" "001" "NM_145861.2" "" "NP_665860.2" "" "" "" "-65" "2707" "648" "236557680" "236648008" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03795" "ECTD11A" "dysplasia, ectodermal, type 11A, hypohidrotic/hair/tooth, autosomal dominant (ECTD11A)" "AD" "614940" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-04-20 12:07:56" "03796" "ECTD11B" "dysplasia, ectodermal, type 11B, hypohidrotic/hair/tooth, autosomal recessive (ECTD11B)" "AR" "614941" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-04-20 12:08:13" "05124" "HED" "dysplasia, ectodermal, hypohidrotic (HED)" "" "" "" "" "" "00006" "2016-01-25 10:28:34" "" "" "05728" "ECTD" "dysplasia, ectodermal (ECTD)" "" "" "" "" "" "00006" "2020-04-20 19:23:21" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "EDARADD" "03795" "EDARADD" "03796" ## Individuals ## Do not remove or alter this header ## ## Count = 25 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00043753" "" "" "" "1" "" "01333" "{PMID:Wohlfart 2016:26440664}" "3-generation family, 3 affected (2F, M)" "F" "" "Germany" "" "0" "" "" "" "FamPatIII1" "00057908" "" "" "" "1" "" "00006" "{PMID:Cluzeau 2011:20979233}" "" "F" "no" "France" ">11y" "0" "" "" "" "" "00289761" "" "" "" "47" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289762" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289763" "" "" "" "237" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00299828" "" "" "" "1" "" "00006" "{PMID:Wohlfart 2016:27305980}" "" "" "" "Germany" "" "0" "" "" "" "" "00299829" "" "" "" "1" "" "00006" "{PMID:Wohlfart 2016:27305980}" "" "" "" "Germany" "" "0" "" "" "" "" "00299830" "" "" "" "1" "" "00006" "{PMID:Wohlfart 2016:27305980}" "" "" "" "Germany" "" "0" "" "" "" "" "00304187" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00399295" "" "" "" "6" "" "00006" "{PMID:Cluzeau 2019:30022538}" "5-generation family, 6 affected (3F, 3M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Tunisia" "" "0" "" "" "" "family" "00399296" "" "" "" "1" "" "00006" "{PMID:Chassaing 2010:20222921}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Morocco" "" "0" "" "" "" "patient" "00399297" "" "" "" "2" "" "00006" "{PMID:Chassaing 2010:20222921}" "" "" "" "France" "" "0" "" "" "" "patientss" "00399298" "" "" "" "1" "" "00006" "{PMID:Headon 2001:11780064}" "4-generation family, 5 affected (4F, M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "United States" "" "0" "" "" "" "FamED1176" "00399321" "" "" "" "2" "" "00006" "{PMID:Chaudhary 2016:26991760}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives" "F" "yes" "India" "" "0" "" "" "" "family" "00399322" "" "" "" "1" "" "00006" "{PMID:Koguchi-Yoshioka 2015:24666190}," "" "F" "" "Japan" "" "0" "" "" "" "patient" "00399324" "" "" "" "1" "" "00006" "{PMID:Suda 2010:20477971}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Mongolia" "" "0" "" "" "" "patient" "00399325" "" "" "" "1" "" "00006" "{PMID:Bal 2007:17354266}" "3-generation family, 7 affected (3F, 4M)" "F;M" "" "Morocco" "" "0" "" "" "" "family" "00399343" "" "" "" "2" "" "00006" "{PMID:Bodemer 2019:30974434}" "2-generation family, 2 affected sibs" "M" "no" "Turkey" "" "0" "" "" "" "EDARADD_F1-1" "00399344" "" "" "00399343" "1" "" "00006" "{PMID:Bodemer 2019:30974434}" "" "F" "no" "Turkey" "" "0" "" "" "" "EDARADD_F1-2" "00399429" "" "" "" "1" "" "00006" "{PMID:Martínez-Romero 2019:31796081}" "" "M" "" "Spain" "" "0" "" "" "" "Pat21" "00399441" "" "" "" "1" "" "00006" "{PMID:Martínez-Romero 2019:31796081}" "" "M" "" "Spain" "" "0" "" "" "" "Pat51" "00399458" "" "" "" "1" "" "00006" "{PMID:Martínez-Romero 2019:31796081}" "" "F" "" "Spain" "" "0" "" "" "" "Pat38" "00399459" "" "" "" "1" "" "00006" "{PMID:Martínez-Romero 2019:31796081}" "" "M" "" "Spain" "" "0" "" "" "" "Pat40" "00399466" "" "" "" "1" "" "00006" "{PMID:Martínez-Romero 2019:31796081}" "" "M" "" "Spain" "" "0" "" "" "" "Pat39" "00399471" "" "" "" "1" "" "00006" "{PMID:van der Hout 2008:18231121}" "2-generation family, 1 affected, unaffected heterozygous carrier mother" "F" "" "" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 25 "{{individualid}}" "{{diseaseid}}" "00043753" "03795" "00057908" "03795" "00289761" "00198" "00289762" "00198" "00289763" "00198" "00299828" "05728" "00299829" "05728" "00299830" "05728" "00304187" "00198" "00399295" "05728" "00399296" "05124" "00399297" "05124" "00399298" "05124" "00399321" "05124" "00399322" "00198" "00399324" "05124" "00399325" "00198" "00399343" "05728" "00399344" "05728" "00399429" "05124" "00399441" "00198" "00399458" "05124" "00399459" "05124" "00399466" "00198" "00399471" "05124" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03795, 03796, 05124, 05728 ## Count = 20 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000034020" "03795" "00043753" "00006" "Familial, autosomal dominant" "16y" "very thin, brittle, sparse or even absent hair, reduced sweating ability, dental panoramic radiographs confirmed absence considerable number permanent teeth (six upper jaw, eight lower jaw), bilateral amazia (unilateral amazia in mother, bilateral mature ovarian teratomas containing hair, sebaceous and sweat glands" "" "" "" "" "" "" "" "" "ECTD11A" "" "" "0000044561" "03795" "00057908" "00006" "Familial, autosomal dominant" "11y" "sparse hair (HP:0008070), reduced number of teeth (HP:0009804), hypohidrosis (HP:000966), dry skin (HP:0000958), abnormal nails (HP:0001597), palmoplantar keratoderma (HP:0000982)" "" "" "" "" "" "" "" "" "" "" "" "0000227149" "05728" "00299828" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "ECTD11" "hypohidrotic ectodermal dysplasia" "" "0000227150" "05728" "00299829" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "ECTD11" "hypohidrotic ectodermal dysplasia" "" "0000227151" "05728" "00299830" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "ECTD11" "hypohidrotic ectodermal dysplasia" "" "0000292412" "05728" "00399295" "00006" "Familial, autosomal recessive" "" "see paoer; ..., severe hypo-hidrotic and anhidrotic ectodermal dysplasia, multiple pulmonary infections; sparse hair, oligodontia with conical widely spaced teeth, ichthyosiform dry skin, prominent lips, frontal bossing, pointed chin; inability to sweat, episodes severe hyperpyrexia since early childhood" "" "" "" "" "" "" "" "" "ECTD11B" "anhidrotic ectodermal dysplasia" "" "0000292413" "05124" "00399296" "00006" "Familial, autosomal recessive" "27y" "see paper; ..., hypotrichosis, hypodontia, anhidrosis; childhood one milk tooth; 27y-permanent teeth not erupted; skin very dry, eczematous, hyperpigmented stains forehead, cheek and chin; scalp hair appeared late and is thin, brittle and sparse; no axillary hair, no pubic hair, sparse eyebrows, sparse eyelashes; recurrent rhinitis, multiple respiratory infections; no sweating" "" "" "" "" "" "" "" "" "ECTD11B" "hypohidrotic ectodermal dysplasia" "" "0000292414" "05124" "00399298" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "ECTD11B" "hypohidrotic ectodermal dysplasia" "" "0000292437" "05124" "00399321" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "ECTD11B" "hypohidrotic ectodermal dysplasia" "" "0000292439" "00198" "00399322" "00006" "Familial, autosomal dominant" "21y" "see paper; ..., heat intolerance since birth, anhidrosis trunk and upper limbs, could sweat on other areas; no abnormalities whole body; normal intelligence; father anhidrosis" "" "" "" "" "" "" "" "" "ECTD11A" "partial anhidrosis" "" "0000292441" "05124" "00399324" "00006" "Isolated (sporadic)" "05y" "see paper; ..., hypohidrotic ectodermal dysplasia, short stature, normal mental development; sparse hair, sparse eyebrows; normal finger nails; unable to sweat; no cardiac abnormality; no erupted deciduous or permanent teeth, lateral cephalogram and panoramic radiograph only one mandibular molar right side; alveolar bone height maxilla and mandible extremely low" "" "" "" "" "" "" "" "" "ECTD11B" "hypohidrotic ectodermal dysplasia" "" "0000292442" "00198" "00399325" "00006" "Familial, autosomal dominant" "" "see paper; ..., ypotrichosis, hypodontia, anhidrosis" "" "" "" "" "" "" "" "" "ECTD11B" "anhidrotic ectodermal dysplasia" "" "0000292460" "05728" "00399343" "00006" "Familial, autosomal recessive" "" "hypotrichosis; anhidrosis, dry skin; spoon-shaped nails; severe oligodontia, class III malocclusion; facila dysmorphism, blue sclera, palmar hyperhidrosis" "" "" "" "" "" "" "" "" "ECTD11B" "ectodermal dysplasia" "" "0000292461" "05728" "00399344" "00006" "Familial, autosomal recessive" "" "hypotrichosis; hypohidrosis, dry skin; spoon-shaped nails; severe oligodontia, class III malocclusion; facila dysmorphism, palmar keratosis" "" "" "" "" "" "" "" "" "ECTD11B" "ectodermal dysplasia" "" "0000292534" "05124" "00399429" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "hypohidrotic ectodermal dysplasia" "" "0000292546" "00198" "00399441" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic tooth agenesis" "" "0000292563" "05124" "00399458" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypohidrotic ectodermal dysplasia" "" "0000292564" "05124" "00399459" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypohidrotic ectodermal dysplasia" "" "0000292571" "00198" "00399466" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic tooth agenesis" "" "0000292575" "05124" "00399471" "00006" "Isolated (sporadic)" "" "conical teeth, sparse downy hair" "" "" "" "" "" "" "" "" "HED" "hypohidrotic ectodermal dysplasia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 25 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000043995" "00043753" "1" "01333" "01333" "2015-06-17 08:53:06" "00006" "2015-06-17 13:08:21" "SEQ" "DNA" "" "" "0000057870" "00057908" "1" "00006" "00006" "2016-01-25 11:48:32" "" "" "SEQ" "DNA" "" "" "0000290929" "00289761" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290930" "00289762" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290931" "00289763" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000300943" "00299828" "1" "00006" "00006" "2020-04-21 17:05:49" "" "" "SEQ" "DNA" "" "" "0000300944" "00299829" "1" "00006" "00006" "2020-04-21 17:05:49" "" "" "SEQ" "DNA" "" "" "0000300945" "00299830" "1" "00006" "00006" "2020-04-21 17:05:49" "" "" "SEQ" "DNA" "" "" "0000305316" "00304187" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000400538" "00399295" "1" "00006" "00006" "2022-01-19 11:09:13" "" "" "arraySNP;SEQ" "DNA" "" "" "0000400539" "00399296" "1" "00006" "00006" "2022-01-19 11:32:32" "" "" "SEQ" "DNA" "" "" "0000400540" "00399297" "1" "00006" "00006" "2022-01-19 11:32:32" "" "" "SEQ" "DNA" "" "" "0000400541" "00399298" "1" "00006" "00006" "2022-01-19 11:50:23" "" "" "SEQ" "DNA" "" "" "0000400564" "00399321" "1" "00006" "00006" "2022-01-19 13:46:15" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000400565" "00399322" "1" "00006" "00006" "2022-01-19 14:09:51" "" "" "SEQ" "DNA" "" "" "0000400567" "00399324" "1" "00006" "00006" "2022-01-19 14:22:45" "" "" "SEQ" "DNA" "" "" "0000400568" "00399325" "1" "00006" "00006" "2022-01-19 14:36:29" "" "" "SEQ" "DNA" "" "" "0000400586" "00399343" "1" "00006" "00006" "2022-01-19 16:34:44" "" "" "SEQ" "DNA" "" "" "0000400587" "00399344" "1" "00006" "00006" "2022-01-19 16:34:44" "" "" "SEQ" "DNA" "" "" "0000400672" "00399429" "1" "00006" "00006" "2022-01-20 18:58:06" "" "" "SEQ" "DNA" "" "" "0000400684" "00399441" "1" "00006" "00006" "2022-01-20 18:58:06" "" "" "SEQ" "DNA" "" "" "0000400701" "00399458" "1" "00006" "00006" "2022-01-20 18:58:06" "" "" "SEQ" "DNA" "" "" "0000400702" "00399459" "1" "00006" "00006" "2022-01-20 18:58:06" "" "" "SEQ" "DNA" "" "" "0000400709" "00399466" "1" "00006" "00006" "2022-01-20 18:58:06" "" "" "SEQ" "DNA" "" "" "0000400713" "00399471" "1" "00006" "00006" "2022-01-20 19:45:00" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{geneid}}" "0000043995" "EDARADD" "0000057870" "EDARADD" "0000300943" "EDARADD" "0000300944" "EDARADD" "0000300945" "EDARADD" "0000400538" "EDARADD" "0000400539" "EDARADD" "0000400540" "EDARADD" "0000400541" "EDARADD" "0000400564" "EDARADD" "0000400565" "EDARADD" "0000400567" "EDARADD" "0000400568" "EDARADD" "0000400586" "EDARADD" "0000400587" "EDARADD" "0000400672" "EDA" "0000400684" "EDA" "0000400701" "EDARADD" "0000400702" "EDARADD" "0000400709" "WNT10A" "0000400713" "EDARADD" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 30 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000071780" "21" "90" "1" "236645668" "236645668" "subst" "0" "01333" "EDARADD_000001" "g.236645668G>A" "" "{PMID:Wohlfart 2016:26440664}" "" "" "" "Germline" "yes" "" "0" "" "" "g.236482368G>A" "" "pathogenic (dominant)" "" "0000088189" "1" "90" "1" "236645659" "236645659" "subst" "0" "00006" "EDARADD_000002" "g.236645659G>T" "" "{PMID:Cluzeau 2011:20979233}" "" "NM_080738.3:c.328G>T" "" "Germline" "yes" "" "0" "" "" "g.236482359G>T" "" "pathogenic" "" "0000251215" "0" "10" "1" "236631633" "236631633" "subst" "0" "02326" "EDARADD_000004" "g.236631633A>G" "" "" "" "EDARADD(NM_145861.3):c.265+57A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236468333A>G" "" "benign" "" "0000267762" "0" "10" "1" "236557771" "236557771" "subst" "0.841235" "02325" "EDARADD_000003" "g.236557771G>A" "" "" "" "EDARADD(NM_145861.4):c.27G>A (p.M9I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236394471G>A" "" "benign" "" "0000267763" "0" "10" "1" "236645670" "236645670" "subst" "0.200529" "02325" "EDARADD_000005" "g.236645670C>T" "" "" "" "EDARADD(NM_080738.4):c.339C>T (p.D113=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236482370C>T" "" "benign" "" "0000506116" "0" "30" "1" "236645609" "236645609" "subst" "0.0214614" "02325" "EDARADD_000006" "g.236645609C>T" "" "" "" "EDARADD(NM_145861.4):c.308C>T (p.S103F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236482309C>T" "" "likely benign" "" "0000647618" "1" "30" "1" "236645609" "236645609" "subst" "0.0214614" "03575" "EDARADD_000006" "g.236645609C>T" "47/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "47 heterozygous, no homozygous; {DB:CLININrs114632254}" "Germline" "" "rs114632254" "0" "" "" "g.236482309C>T" "" "likely benign" "" "0000647619" "1" "90" "1" "236645755" "236645755" "subst" "4.06329E-6" "03575" "EDARADD_000007" "g.236645755G>A" "2/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs74315309}" "Germline" "" "rs74315309" "0" "" "" "g.236482455G>A" "" "pathogenic" "" "0000647620" "1" "30" "1" "236647542" "236647542" "subst" "0" "03575" "EDARADD_000008" "g.236647542G>T" "237/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "237 heterozygous; {DB:CLININrs61736989}" "Germline" "" "rs61736989" "0" "" "" "g.236484242G>T" "" "likely benign" "" "0000653944" "0" "50" "1" "236645825" "236645825" "subst" "4.07727E-6" "02325" "EDARADD_000009" "g.236645825C>T" "" "" "" "EDARADD(NM_080738.4):c.494C>T (p.T165M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236482525C>T" "" "VUS" "" "0000663839" "0" "90" "1" "236645668" "236645668" "subst" "0" "00006" "EDARADD_000001" "g.236645668G>A" "3/124 cases" "{PMID:Wohlfart 2016:27305980}" "" "" "" "Germline" "" "" "0" "" "" "g.236482368G>A" "" "pathogenic" "" "0000663840" "0" "90" "1" "236645668" "236645668" "subst" "0" "00006" "EDARADD_000001" "g.236645668G>A" "3/124 cases" "{PMID:Wohlfart 2016:27305980}" "" "" "" "Germline" "" "" "0" "" "" "g.236482368G>A" "" "pathogenic" "" "0000663841" "0" "90" "1" "236645668" "236645668" "subst" "0" "00006" "EDARADD_000001" "g.236645668G>A" "3/124 cases" "{PMID:Wohlfart 2016:27305980}" "" "" "" "Germline" "" "" "0" "" "" "g.236482368G>A" "" "pathogenic" "" "0000669004" "3" "30" "1" "236647542" "236647542" "subst" "0" "03575" "EDARADD_000008" "g.236647542G>T" "6/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 homozygous; {DB:CLININrs61736989}" "Germline" "" "rs61736989" "0" "" "" "g.236484242G>T" "" "likely benign" "" "0000833454" "3" "90" "1" "236590691" "236590751" "del" "0" "00006" "EDARADD_000010" "g.(236577600_236590691)_(236590751_236631530)del" "" "{PMID:Cluzeau 2019:30022538}" "" "c.131-?_189+?del ex4" "" "Germline" "yes" "" "0" "" "" "g.(236414300_236427391)_(236427451_236468230)del" "" "pathogenic (recessive)" "" "0000833455" "3" "90" "1" "236645703" "236645708" "del" "0" "00006" "EDARADD_000011" "g.236645703_236645708del" "" "{PMID:Chassaing 2010:20222921}" "" "" "" "Germline" "" "" "0" "" "" "g.236482403_236482408del" "" "pathogenic (recessive)" "" "0000833456" "1" "30" "1" "236645609" "236645609" "subst" "0.0214614" "00006" "EDARADD_000006" "g.236645609C>T" "2/27 cases HED" "{PMID:Chassaing 2010:20222921}" "" "278C>T (Ser123Phe)" "" "Germline" "" "" "0" "" "" "g.236482309C>T" "" "likely benign" "" "0000833457" "3" "90" "1" "236645755" "236645755" "subst" "4.06329E-6" "00006" "EDARADD_000007" "g.236645755G>A" "" "{PMID:Headon 2001:11780064}" "" "G424A (Glu142Lys)" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000833488" "3" "90" "1" "236572575" "236572575" "subst" "0" "00006" "EDARADD_000012" "g.236572575G>A" "" "{PMID:Chaudhary 2016:26991760}" "" "IVS2+1G>A" "effect on splicing derived from in vitro pCAS minigene splicing assay" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000833489" "11" "90" "1" "236577598" "236577598" "dup" "0" "00006" "EDARADD_000013" "g.236577598dup" "" "{PMID:Koguchi-Yoshioka 2015:24666190}" "" "157insA" "" "Germline" "" "" "0" "" "" "g.236414298dup" "" "pathogenic (dominant)" "" "0000833492" "0" "90" "1" "236645692" "236645692" "subst" "0" "00006" "EDARADD_000014" "g.236645692C>T" "" "{PMID:Suda 2010:20477971}" "" "361C>T (P121S)" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000833493" "1" "90" "1" "236645666" "236645666" "subst" "0" "00006" "EDARADD_000015" "g.236645666T>G" "" "{PMID:Bal 2007:17354266}" "" "335T>G (Leu112Arg)" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000833513" "3" "90" "1" "236645755" "236645755" "subst" "4.06329E-6" "00006" "EDARADD_000007" "g.236645755G>A" "" "{PMID:Bodemer 2019:30974434}" "" "" "" "Germline" "yes" "" "0" "" "" "g.236482455G>A" "" "pathogenic (recessive)" "" "0000833514" "3" "70" "1" "236645755" "236645755" "subst" "4.06329E-6" "00006" "EDARADD_000007" "g.236645755G>A" "" "{PMID:Bodemer 2019:30974434}" "" "" "" "Germline" "yes" "" "0" "" "" "g.236482455G>A" "" "likely pathogenic (recessive)" "" "0000833666" "1" "50" "1" "236645609" "236645609" "subst" "0.0214614" "00006" "EDARADD_000006" "g.236645609C>T" "" "{PMID:Martínez-Romero 2019:31796081}" "" "" "" "Germline" "" "" "0" "" "" "g.236482309C>T" "" "VUS" "" "0000833667" "1" "50" "1" "236645609" "236645609" "subst" "0.0214614" "00006" "EDARADD_000006" "g.236645609C>T" "" "{PMID:Martínez-Romero 2019:31796081}" "" "" "" "Germline" "" "" "0" "" "" "g.236482309C>T" "" "VUS" "" "0000833676" "1" "50" "1" "236645609" "236645609" "subst" "0.0214614" "00006" "EDARADD_000006" "g.236645609C>T" "" "{PMID:Martínez-Romero 2019:31796081}" "" "" "" "Germline" "" "" "0" "" "" "g.236482309C>T" "" "VUS" "" "0000833677" "1" "50" "1" "236645609" "236645609" "subst" "0.0214614" "00006" "EDARADD_000006" "g.236645609C>T" "" "{PMID:Martínez-Romero 2019:31796081}" "" "" "" "Germline" "" "" "0" "" "" "g.236482309C>T" "" "VUS" "" "0000833678" "1" "50" "1" "236645609" "236645609" "subst" "0.0214614" "00006" "EDARADD_000006" "g.236645609C>T" "" "{PMID:Martínez-Romero 2019:31796081}" "" "" "" "Germline" "" "" "0" "" "" "g.236482309C>T" "" "VUS" "" "0000833690" "21" "30" "1" "236645609" "236645609" "subst" "0.0214614" "00006" "EDARADD_000006" "g.236645609C>T" "" "{PMID:van der Hout 2008:18231121}" "" "278C>T (Ser93Phe)" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes EDARADD ## Count = 30 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000071780" "00006861" "70" "367" "0" "367" "0" "c.367G>A" "r.(?)" "p.(Asp123Asn)" "6" "0000088189" "00006861" "90" "358" "0" "358" "0" "c.358G>T" "r.(?)" "p.(Asp120Tyr)" "6" "0000251215" "00006861" "10" "265" "57" "265" "57" "c.265+57A>G" "r.(=)" "p.(=)" "" "0000267762" "00006861" "10" "27" "0" "27" "0" "c.27G>A" "r.(?)" "p.(Met9Ile)" "" "0000267763" "00006861" "10" "369" "0" "369" "0" "c.369C>T" "r.(?)" "p.(Asp123=)" "" "0000506116" "00006861" "30" "308" "0" "308" "0" "c.308C>T" "r.(?)" "p.(Ser103Phe)" "" "0000647618" "00006861" "30" "308" "0" "308" "0" "c.308C>T" "r.(?)" "p.(Ser103Phe)" "" "0000647619" "00006861" "90" "454" "0" "454" "0" "c.454G>A" "r.(?)" "p.(Glu152Lys)" "" "0000647620" "00006861" "30" "2241" "0" "2241" "0" "c.*1593G>T" "r.(=)" "p.(=)" "" "0000653944" "00006861" "50" "524" "0" "524" "0" "c.524C>T" "r.(?)" "p.(Thr175Met)" "" "0000663839" "00006861" "90" "367" "0" "367" "0" "c.367G>A" "r.(?)" "p.(Asp123Asn)" "" "0000663840" "00006861" "90" "367" "0" "367" "0" "c.367G>A" "r.(?)" "p.(Asp123Asn)" "" "0000663841" "00006861" "90" "367" "0" "367" "0" "c.367G>A" "r.(?)" "p.(Asp123Asn)" "" "0000669004" "00006861" "30" "2241" "0" "2241" "0" "c.*1593G>T" "r.(=)" "p.(=)" "" "0000833454" "00006861" "90" "161" "-1" "219" "1" "c.(160+1_161-1)_(219+1_220-1)del" "r.?" "p.?" "3i_4i" "0000833455" "00006861" "90" "402" "0" "407" "0" "c.402_407del" "r.(?)" "p.(Thr135_Val136del)" "" "0000833456" "00006861" "30" "308" "0" "308" "0" "c.308C>T" "r.(?)" "p.(Ser103Phe)" "" "0000833457" "00006861" "90" "454" "0" "454" "0" "c.454G>A" "r.(?)" "p.(Glu152Lys)" "" "0000833488" "00006861" "90" "120" "1" "120" "1" "c.120+1G>A" "r.[120_121insauag,70_120del]" "p.[Ala54fs,Val24fs]" "2i" "0000833489" "00006861" "90" "159" "0" "159" "0" "c.159dup" "r.(?)" "p.(Ala54Serfs*2)" "" "0000833492" "00006861" "90" "391" "0" "391" "0" "c.391C>T" "r.(?)" "p.(Pro131Ser)" "" "0000833493" "00006861" "90" "365" "0" "365" "0" "c.365T>G" "r.(?)" "p.(Leu122Arg)" "" "0000833513" "00006861" "90" "454" "0" "454" "0" "c.454G>A" "r.(?)" "p.(Glu152Lys)" "6" "0000833514" "00006861" "70" "454" "0" "454" "0" "c.454G>A" "r.(?)" "p.(Glu152Lys)" "6" "0000833666" "00006861" "50" "308" "0" "308" "0" "c.308C>T" "r.(?)" "p.(Ser103Phe)" "6" "0000833667" "00006861" "50" "308" "0" "308" "0" "c.308C>T" "r.(?)" "p.(Ser103Phe)" "6" "0000833676" "00006861" "50" "308" "0" "308" "0" "c.308C>T" "r.(?)" "p.(Ser103Phe)" "6" "0000833677" "00006861" "50" "308" "0" "308" "0" "c.308C>T" "r.(?)" "p.(Ser103Phe)" "6" "0000833678" "00006861" "50" "308" "0" "308" "0" "c.308C>T" "r.(?)" "p.(Ser103Phe)" "6" "0000833690" "00006861" "30" "308" "0" "308" "0" "c.308C>T" "r.(?)" "p.(Ser103Phe)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 25 "{{screeningid}}" "{{variantid}}" "0000043995" "0000071780" "0000057870" "0000088189" "0000290929" "0000647618" "0000290930" "0000647619" "0000290931" "0000647620" "0000300943" "0000663839" "0000300944" "0000663840" "0000300945" "0000663841" "0000305316" "0000669004" "0000400538" "0000833454" "0000400539" "0000833455" "0000400540" "0000833456" "0000400541" "0000833457" "0000400564" "0000833488" "0000400565" "0000833489" "0000400567" "0000833492" "0000400568" "0000833493" "0000400586" "0000833513" "0000400587" "0000833514" "0000400672" "0000833676" "0000400684" "0000833677" "0000400701" "0000833666" "0000400702" "0000833667" "0000400709" "0000833678" "0000400713" "0000833690"