### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = EDEM3) # 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}}" "EDEM3" "ER degradation enhancer, mannosidase alpha-like 3" "1" "q25" "unknown" "NC_000001.10" "UD_132319221412" "" "https://www.LOVD.nl/EDEM3" "" "1" "16787" "80267" "610214" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/EDEM3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-06-28 16:12:17" "00000" "2025-05-05 21:14:00" ## 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}}" "00006868" "EDEM3" "ER degradation enhancer, mannosidase alpha-like 3" "001" "NM_025191.3" "" "NP_079467.3" "" "" "" "-261" "6371" "2799" "184724041" "184659625" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "05461" "CDG" "glycosylation, congenital disorder of (CDG)" "" "" "" "" "" "00006" "2018-07-18 09:08:14" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "EDEM3" "05461" ## Individuals ## Do not remove or alter this header ## ## Count = 12 "{{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}}" "00376972" "" "" "" "3" "" "00000" "{PMID:Polla 2021:34143952}, {DOI:Polla 2021:10.1016/j.ajhg.2021.05.010}" "4-generation family, 3 affected sisters, unaffected heterozygous carrier parents/relatives" "F" "yes" "" "" "0" "" "" "Romani" "Fam1PatIV1" "00376973" "" "" "00376972" "1" "" "00000" "{PMID:Polla 2021:34143952}, {DOI:Polla 2021:10.1016/j.ajhg.2021.05.010}" "sister" "F" "yes" "" "" "0" "" "" "Romani" "Fam1PatIV2" "00376974" "" "" "00376972" "1" "" "00000" "{PMID:Polla 2021:34143952}, {DOI:Polla 2021:10.1016/j.ajhg.2021.05.010}" "sister" "F" "yes" "" "" "0" "" "" "Romani" "Fam1PatIV4" "00376975" "" "" "" "2" "" "00000" "{PMID:Polla 2021:34143952}, {DOI:Polla 2021:10.1016/j.ajhg.2021.05.010}" "4-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives" "F" "yes" "" "" "0" "" "" "Romani" "Fam2PatIV1" "00376976" "" "" "00376975" "1" "" "00000" "{PMID:Polla 2021:34143952}, {DOI:Polla 2021:10.1016/j.ajhg.2021.05.010}" "brother" "M" "yes" "" "" "0" "" "" "Romani" "Fam2PatIV3" "00376977" "" "" "" "3" "" "00000" "{PMID:Polla 2021:34143952}, {DOI:Polla 2021:10.1016/j.ajhg.2021.05.010}" "2-generation family, 3 affected sibs (F, 2M), unaffected heterozygous carrier parents" "M" "" "United States" "" "0" "" "" "" "Fam3PatII1" "00376978" "" "" "00376977" "1" "" "00000" "{PMID:Polla 2021:34143952}, {DOI:Polla 2021:10.1016/j.ajhg.2021.05.010}" "sister" "F" "" "United States" "" "0" "" "" "" "Fam3PatII2" "00376979" "" "" "00376977" "1" "" "00000" "{PMID:Polla 2021:34143952}, {DOI:Polla 2021:10.1016/j.ajhg.2021.05.010}" "sister" "F" "" "United States" "" "0" "" "" "" "Fam3PatII3" "00376980" "" "" "" "1" "" "00000" "{PMID:Polla 2021:34143952}, {DOI:Polla 2021:10.1016/j.ajhg.2021.05.010}" "2-generation family, 1 affected sibs, unaffected heterozygous carrier parents" "M" "" "United States" "" "0" "" "" "" "Fam4PatII4" "00376981" "" "" "" "1" "" "00000" "{PMID:Polla 2021:34143952}, {DOI:Polla 2021:10.1016/j.ajhg.2021.05.010}" "2-generation family, 1 affected sibs, unaffected heterozygous carrier parents" "F" "" "United States" "" "0" "" "" "" "Fam5PatII1" "00376982" "" "" "" "1" "" "00000" "{PMID:Polla 2021:34143952}, {DOI:Polla 2021:10.1016/j.ajhg.2021.05.010}" "4-generation family, 1 affected sibs, unaffected heterozygous carrier parents/relatives" "F" "yes" "Afghanistan" "" "0" "" "" "" "Fam6PatIV5" "00376983" "" "" "" "1" "" "00000" "{PMID:Polla 2021:34143952}, {DOI:Polla 2021:10.1016/j.ajhg.2021.05.010}" "2-generation family, 1 affected sibs, unaffected heterozygous carrier mother" "M" "no" "Indonesia" "" "0" "" "" "" "Fam7PatII1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00376972" "05461" "00376973" "05461" "00376974" "05461" "00376975" "05461" "00376976" "05461" "00376977" "05461" "00376978" "05461" "00376979" "05461" "00376980" "05461" "00376981" "05461" "00376982" "05461" "00376983" "05461" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05461 ## Count = 12 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000272165" "05461" "00376972" "00000" "Familial, autosomal recessive" "28y" "birth-36w, weight 2050g, length 44cm, OFC 33cm; length 152cm (-1.6SD), OFC 54cm (+0.5SD), weight 64kg (+0.5SD); moderate intellectual disability; developmental delay; speech delay; no seizures; no hypotonia; anxiety; narrow palpebral fissures; no epicanthal folds; no increased nasal height; bulbous tip; low columella; no smooth philtrum; no short philtrum; thin upper lip; no retrognatia; strabismus, astigmatism; no ear abnormalities; normal extremities; no genital abnormalities; diabetes" "" "" "" "" "" "" "" "" "congenital glycosylation disorder" "0000272166" "05461" "00376973" "00000" "Familial, autosomal recessive" "22y" "birth full term, weight 3050g, length 45cm, OFC 34cm; length 154cm (-1.2SD), OFC 54cm (-0.5SD), weight 67kg (+0.6SD); moderate intellectual disability; developmental delay; speech delay; no seizures; no hypotonia; anxiety; narrow palpebral fissures; no epicanthal folds; no increased nasal height; no bulbous tip; low columella; no smooth philtrum; no short philtrum; thin upper lip; no retrognatia; no eye abnormalities; no ear abnormalities; normal extremities; no genital abnormalities" "" "" "" "" "" "" "" "" "congenital glycosylation disorder" "0000272167" "05461" "00376974" "00000" "Familial, autosomal recessive" "16y" "birth full term, weight 3150g, length 50cm, OFC 34cm; length 148cm (-2.0SD), OFC 52cm (-2.0SD), weight 48.5kg (-0.6SD); moderate intellectual disability; developmental delay; speech delay; no seizures; no hypotonia; noi behavioral disturbances; narrow palpebral fissures; no epicanthal folds; no increased nasal height; no bulbous tip; hypoplastic alae nasi; no smooth philtrum; no short philtrum; thin upper lip; no retrognatia; no eye abnormalities; ears thickened helix; normal extremities; no genital abnormalities" "" "" "" "" "" "" "" "" "congenital glycosylation disorder" "0000272168" "05461" "00376975" "00000" "Familial, autosomal recessive" "19y" "birth full term, weight 3095g, length 50cm, OFC 35cm; length 148cm (-2.0SD), OFC 52cm (-2.0SD), weight 43.7kg (-2.0SD); moderate intellectual disability; developmental delay; speech delay; no seizures; hypotonia; anxiety; MRI brain corpus callosum agenesis, no cerebellar vermis hypoplasia, wide cisterna magna; narrow palpebral fissures; epicanthal folds; increased nasal height; bulbous tip; low columella; no smooth philtrum; short philtrum; thin upper lip; retrognatia; ptosis (right eye more affected); astigmatism; ears low set, mild protrusion; normal extremities; no genital abnormalities" "" "" "" "" "" "" "" "" "congenital glycosylation disorder" "0000272169" "05461" "00376976" "00000" "Familial, autosomal recessive" "6y" "birth full term, weight 3140g, length 48.5cm, OFC 34.5cm; length 106cm (-2.0SD), OFC 50cm (-0.5SD), weight 16.3kg (-1.6SD); moderate intellectual disability; developmental delay; speech delay; no seizures; no hypotonia; hyperactivity; narrow palpebral fissures; epicanthal folds; increased nasal height; bulbous tip; low columella; no smooth philtrum; short philtrum; thin upper lip; retrognatia; refractive error; ears low set, mild protrusion; positional club feet; no genital abnormalities; gastro-esophageal reflux" "" "" "" "" "" "" "" "" "congenital glycosylation disorder" "0000272170" "05461" "00376977" "00000" "Familial, autosomal recessive" "11y" "birth full term, weight 3288g, length 53,3cm; length 128.3cm (-1.0SD), OFC 52cm (-0.6SD), weight 23kg (-1.6SD); no intellectual disability; developmental delay; speech delay, mixed receptive-expressive language disorder; no seizures; hypotonia; attention difficulties requiring medical therapy; failure to thrive; no narrow palpebral fissures; epicanthal folds; increased nasal height; no bulbous tip; hypoplastic alae nasi; no smooth philtrum; short philtrum; thin upper lip; retrognatia; nevus flameus; no eye abnormalities; ear thickened helix; normal extremities; hydrocele; normal carboyhdrate deficient transferrin, mild liver function tests elevation, low am cortisol, hypoalbuminemia; thin skin with visible veins, hirsuite legs, delayed bone age, chronic constipation" "" "" "" "" "" "" "" "" "congenital glycosylation disorder" "0000272171" "05461" "00376978" "00000" "Familial, autosomal recessive" "10y" "birth full term, weight 3714g; length 119cm (-1.0SD), OFC 50cm (-0.6SD), weight 22kg (-0.6SD); developmental delay; speech delay, mixed receptive-expressive language disorder; febrile seizures; hypotonia; anxiety; MRI brain corpus callosum agenesis; no narrow palpebral fissures; no epicanthal folds; increased nasal height; no bulbous tip; hypoplastic alae nasi; no smooth philtrum; short philtrum; thin upper lip; retrognatia; periorbital fullness, nevus flameus; no eye abnormalities; no ear abnormalities; normal extremities; no genital abnormalities; normal carboyhdrate deficient transferrin, mild alanine transaminase elevation, low am cortisol, thyroid-stimulating hormone elevation; thin skin with visible veins, hirsuite legs, chronic constipation" "" "" "" "" "" "" "" "" "congenital glycosylation disorder" "0000272172" "05461" "00376979" "00000" "Familial, autosomal recessive" "6y" "birth full term, weight 3940g, length 53,3cm; OFC 50cm (0.0SD), weight 14.8kg (0.0SD); developmental delay; speech delay, mixed receptive-expressive language disorder; no seizures; hypotonia; noi behavioral disturbances; history of central apnea; no narrow palpebral fissures; epicanthal folds; increased nasal height; no bulbous tip; hypoplastic alae nasi; no smooth philtrum; short philtrum; thin upper lip; retrognatia; nevus flameus; no eye abnormalities; ear thickened helix; normal extremities; no genital abnormalities; normal carboyhdrate deficient transferrin, mild aspartate transaminase elevation, low am cortisol, hypercholestrolemia, iron deficiency; thin skin with visible veins, hirsuite legs, chronic constipation, gastro-esophageal reflux, obstructive sleep apnea" "" "" "" "" "" "" "" "" "congenital glycosylation disorder" "0000272173" "05461" "00376980" "00000" "Familial, autosomal recessive" "7y" "birth full term, weight 3685g; length 79cm (-1.0SD, 18 mo), 18m-OFC 48cm (0.0SD), 18m-weight 9.4kg (-1.9SD); developmental delay; speech delay; no seizures; hypotonia; noi behavioral disturbances; failure to thrive; narrow palpebral fissures; no epicanthal folds; increased nasal height; bulbous tip; hypoplastic alae nasi; smooth philtrum; short philtrum; thin upper lip; retrognatia; deep set eyes, intermittent strabismus, cleft palate; no eye abnormalities; no ear abnormalities; normal extremities; no genital abnormalities; atypical hair growth pattern and whorl, early feeding difficulties required nasogastric tube" "" "" "" "" "" "" "" "" "congenital glycosylation disorder" "0000272174" "05461" "00376981" "00000" "Familial, autosomal recessive" "3y" "birth full term, weight 3323g; length 91cm (-1.7SD, 45 mo), 45m-OFC 47.5cm (-1.3SD), 45m-weight 12.7kg (-1.6SD); developmental delay; speech delay; no seizures; hypotonia; noi behavioral disturbances; concern for central apnea; MRI brain corpus callosum agenesis, periventriciular leucomalacia; failure to thrive; no narrow palpebral fissures; epicanthal folds; increased nasal height; bulbous tip; no hypoplastic alae nasi; no smooth philtrum; no short philtrum; no thin upper lip; no retrognatia; downslanting fissures, mild ptosis, hypertelorism; no eye abnormalities; no ear abnormalities; normal extremities; no genital abnormalities; constipation, ansomia, nonfamilial short stature, poor weight gain" "" "" "" "" "" "" "" "" "congenital glycosylation disorder" "0000272175" "05461" "00376982" "00000" "Familial, autosomal recessive" "5y" "birth-42w, weight 3820g; developmental delay; speech delay; no seizures; no hypotonia; noi behavioral disturbances; no narrow palpebral fissures; no epicanthal folds; no increased nasal height; no bulbous tip; no hypoplastic alae nasi; no smooth philtrum; no short philtrum; no thin upper lip; no retrognatia; broad nasal bridge, hypertelorism; right-sided strabismus; low set ears; normal extremities; no genital abnormalities; decreased intake at 7 months and diagnosed with gastro-esophageal reflux at 7 months, at 9 months completely stopped intake: nasogastric tube fed, two episodes of tachycardia at rest in hospital (170-180 bpm) with no obvious cause noted in hospital and is occasionally tachycardic at home as well, gastroscopy did not show abnormalities, currently percutaneous endoscopic gastrostomy in situ" "" "" "" "" "" "" "" "" "congenital glycosylation disorder" "0000272176" "05461" "00376983" "00000" "Familial, autosomal recessive" "33y" "birth-40w+0, weight 3030g, length 52cm; mild intellectual disability; developmental delay; speech delay; no seizures; no hypotonia; delayed responses in social situations; history of central apnea as baby, self limiting; no narrow palpebral fissures; epicanthal folds (Hindu); increased nasal height; bulbous tip; no hypoplastic alae nasi; no smooth philtrum; no short philtrum; no thin upper lip; no retrognatia; droopy eyelids, high palate, full lips, low posterior hair line, mild webbing of the shoulders, narrow temporal skull; no eye abnormalities; no ear abnormalities; born with a Poland sequence: left arm muscles and pectoral muscle underdeveloped, left wrist impaired supination and pronation, mild atrophy of the left thenar muscle and short metacarpal bones of the first digits.; dextrocardia and a mild thoracic scoliosis" "" "" "" "" "" "" "" "" "congenital glycosylation disorder" ## Screenings ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000378177" "00376972" "1" "00000" "00006" "2021-06-28 16:11:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000378178" "00376973" "1" "00000" "00006" "2021-06-28 16:11:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000378179" "00376974" "1" "00000" "00006" "2021-06-28 16:11:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000378180" "00376975" "1" "00000" "00006" "2021-06-28 16:11:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000378181" "00376976" "1" "00000" "00006" "2021-06-28 16:11:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000378182" "00376977" "1" "00000" "00006" "2021-06-28 16:11:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000378183" "00376978" "1" "00000" "00006" "2021-06-28 16:11:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000378184" "00376979" "1" "00000" "00006" "2021-06-28 16:11:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000378185" "00376980" "1" "00000" "00006" "2021-06-28 16:11:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000378186" "00376981" "1" "00000" "00006" "2021-06-28 16:11:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000378187" "00376982" "1" "00000" "00006" "2021-06-28 16:11:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000378188" "00376983" "1" "00000" "00006" "2021-06-28 16:11:27" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 31 "{{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}}" "0000504413" "0" "50" "1" "184686026" "184686026" "subst" "0" "01943" "EDEM3_000002" "g.184686026C>T" "" "" "" "EDEM3(NM_001319960.1):c.1366G>A (p.D456N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.184716892C>T" "" "VUS" "" "0000504414" "0" "50" "1" "184718703" "184718703" "subst" "3.26395E-5" "01943" "EDEM3_000003" "g.184718703T>C" "" "" "" "EDEM3(NM_001319960.1):c.182A>G (p.D61G), EDEM3(NM_025191.4):c.182A>G (p.(Asp61Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.184749569T>C" "" "VUS" "" "0000504415" "0" "50" "1" "184723777" "184723777" "subst" "0" "01943" "EDEM3_000004" "g.184723777T>A" "" "" "" "EDEM3(NM_001319960.1):c.4A>T (p.S2C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.184754643T>A" "" "VUS" "" "0000790856" "3" "70" "1" "184677465" "184677465" "del" "0" "00000" "EDEM3_000006" "g.184677465del" "" "{PMID:Polla 2021:34143952}, {DOI:Polla 2021:10.1016/j.ajhg.2021.05.010}" "" "" "" "Germline" "yes" "" "0" "" "" "g.184708331del" "" "likely pathogenic" "" "0000790857" "3" "70" "1" "184677465" "184677465" "del" "0" "00000" "EDEM3_000006" "g.184677465del" "" "{PMID:Polla 2021:34143952}, {DOI:Polla 2021:10.1016/j.ajhg.2021.05.010}" "" "" "" "Germline" "yes" "" "0" "" "" "g.184708331del" "" "likely pathogenic" "" "0000790858" "3" "70" "1" "184677465" "184677465" "del" "0" "00000" "EDEM3_000006" "g.184677465del" "" "{PMID:Polla 2021:34143952}, {DOI:Polla 2021:10.1016/j.ajhg.2021.05.010}" "" "" "" "Germline" "yes" "" "0" "" "" "g.184708331del" "" "likely pathogenic" "" "0000790859" "3" "70" "1" "184677465" "184677465" "del" "0" "00000" "EDEM3_000006" "g.184677465del" "" "{PMID:Polla 2021:34143952}, {DOI:Polla 2021:10.1016/j.ajhg.2021.05.010}" "" "" "" "Germline" "yes" "" "0" "" "" "g.184708331del" "" "likely pathogenic" "" "0000790860" "3" "70" "1" "184677465" "184677465" "del" "0" "00000" "EDEM3_000006" "g.184677465del" "" "{PMID:Polla 2021:34143952}, {DOI:Polla 2021:10.1016/j.ajhg.2021.05.010}" "" "" "" "Germline" "yes" "" "0" "" "" "g.184708331del" "" "likely pathogenic" "" "0000790861" "1" "70" "1" "184677323" "184677323" "dup" "0" "00000" "EDEM3_000005" "g.184677323dup" "" "{PMID:Polla 2021:34143952}, {DOI:Polla 2021:10.1016/j.ajhg.2021.05.010}" "" "c.2001dupA" "" "Germline" "yes" "" "0" "" "" "g.184708189dup" "" "likely pathogenic" "" "0000790862" "1" "70" "1" "184677323" "184677323" "dup" "0" "00000" "EDEM3_000005" "g.184677323dup" "" "{PMID:Polla 2021:34143952}, {DOI:Polla 2021:10.1016/j.ajhg.2021.05.010}" "" "c.2001dupA" "" "Germline" "yes" "" "0" "" "" "g.184708189dup" "" "likely pathogenic" "" "0000790863" "1" "70" "1" "184677323" "184677323" "dup" "0" "00000" "EDEM3_000005" "g.184677323dup" "" "{PMID:Polla 2021:34143952}, {DOI:Polla 2021:10.1016/j.ajhg.2021.05.010}" "" "c.2001dupA" "" "Germline" "yes" "" "0" "" "" "g.184708189dup" "" "likely pathogenic" "" "0000790864" "3" "70" "1" "184690434" "184690434" "subst" "0" "00000" "EDEM3_000010" "g.184690434T>A" "" "{PMID:Polla 2021:34143952}, {DOI:Polla 2021:10.1016/j.ajhg.2021.05.010}" "" "" "" "Germline" "yes" "" "0" "" "" "g.184721300T>A" "" "likely pathogenic" "" "0000790865" "1" "70" "1" "184681696" "184681696" "subst" "0" "00000" "EDEM3_000007" "g.184681696A>T" "" "{PMID:Polla 2021:34143952}, {DOI:Polla 2021:10.1016/j.ajhg.2021.05.010}" "" "" "" "Germline" "yes" "" "0" "" "" "g.184712562A>T" "" "likely pathogenic" "" "0000790866" "3" "70" "1" "184681723" "184681726" "del" "0" "00000" "EDEM3_000008" "g.184681723_184681726del" "" "{PMID:Polla 2021:34143952}, {DOI:Polla 2021:10.1016/j.ajhg.2021.05.010}" "" "" "" "Germline" "" "" "0" "" "" "g.184712589_184712592del" "" "likely pathogenic" "" "0000790867" "1" "70" "1" "184686026" "184686026" "subst" "0" "00000" "EDEM3_000002" "g.184686026C>T" "" "{PMID:Polla 2021:34143952}, {DOI:Polla 2021:10.1016/j.ajhg.2021.05.010}" "" "" "" "Germline" "" "" "0" "" "" "g.184716892C>T" "" "likely pathogenic" "" "0000790868" "2" "70" "1" "184686023" "184686023" "del" "0" "00000" "EDEM3_000009" "g.184686023del" "" "{PMID:Polla 2021:34143952}, {DOI:Polla 2021:10.1016/j.ajhg.2021.05.010}" "" "c.1369delA" "" "Germline" "yes" "" "0" "" "" "g.184716889del" "" "likely pathogenic" "" "0000790869" "2" "70" "1" "184686023" "184686023" "del" "0" "00000" "EDEM3_000009" "g.184686023del" "" "{PMID:Polla 2021:34143952}, {DOI:Polla 2021:10.1016/j.ajhg.2021.05.010}" "" "c.1369delA" "" "Germline" "yes" "" "0" "" "" "g.184716889del" "" "likely pathogenic" "" "0000790870" "2" "70" "1" "184686023" "184686023" "del" "0" "00000" "EDEM3_000009" "g.184686023del" "" "{PMID:Polla 2021:34143952}, {DOI:Polla 2021:10.1016/j.ajhg.2021.05.010}" "" "c.1369delA" "" "Germline" "yes" "" "0" "" "" "g.184716889del" "" "likely pathogenic" "" "0000790871" "2" "70" "1" "184692884" "184692884" "subst" "0" "00000" "EDEM3_000011" "g.184692884C>A" "" "{PMID:Polla 2021:34143952}, {DOI:Polla 2021:10.1016/j.ajhg.2021.05.010}" "" "" "" "Germline" "yes" "" "0" "" "" "g.184723750C>A" "" "likely pathogenic" "" "0000790872" "2" "70" "1" "184718703" "184718703" "subst" "3.26395E-5" "00000" "EDEM3_000003" "g.184718703T>C" "" "{PMID:Polla 2021:34143952}, {DOI:Polla 2021:10.1016/j.ajhg.2021.05.010}" "" "" "" "Germline" "" "rs777353823" "0" "" "" "g.184749569T>C" "" "likely pathogenic" "" "0000857171" "0" "50" "1" "184688313" "184688314" "del" "0" "01804" "EDEM3_000012" "g.184688313_184688314del" "" "" "" "EDEM3(NM_001319960.1):c.1146_1147del (p.(His382GlnfsTer33))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923020" "0" "10" "1" "184677464" "184677464" "subst" "0.524287" "02326" "EDEM3_000013" "g.184677464G>A" "" "" "" "EDEM3(NM_001319960.2):c.1860C>T (p.I620=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000973501" "0" "50" "1" "184688620" "184688620" "subst" "1.62536E-5" "01804" "EDEM3_000014" "g.184688620C>T" "" "" "" "EDEM3(NM_025191.4):c.1034G>A (p.(Arg345Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973502" "0" "50" "1" "184688660" "184688660" "subst" "0" "01804" "EDEM3_000015" "g.184688660G>C" "" "" "" "EDEM3(NM_025191.4):c.994C>G (p.(Leu332Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990621" "0" "30" "1" "184663405" "184663405" "subst" "1.2223E-5" "01804" "EDEM3_000016" "g.184663405G>A" "" "" "" "EDEM3(NM_025191.3):c.2591C>T (p.(Thr864Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990622" "0" "50" "1" "184663442" "184663442" "dup" "0" "01804" "EDEM3_000017" "g.184663442dup" "" "" "" "EDEM3(NM_025191.3):c.2554dupA (p.(Met852fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990623" "0" "50" "1" "184680891" "184680891" "subst" "0" "01804" "EDEM3_000018" "g.184680891C>T" "" "" "" "EDEM3(NM_025191.3):c.1657G>A (p.(Val553Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990624" "0" "50" "1" "184688324" "184688324" "subst" "0" "01804" "EDEM3_000019" "g.184688324A>C" "" "" "" "EDEM3(NM_025191.3):c.1133T>G (p.(Val378Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990625" "0" "30" "1" "184692924" "184692924" "subst" "2.52574E-5" "01804" "EDEM3_000020" "g.184692924C>G" "" "" "" "EDEM3(NM_025191.3):c.814G>C (p.(Val272Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031526" "0" "50" "1" "184672093" "184672093" "subst" "0" "01804" "EDEM3_000021" "g.184672093C>A" "" "" "" "EDEM3(NM_025191.4):c.2241G>T (p.(Leu747=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031527" "0" "90" "1" "184718703" "184718703" "subst" "3.26395E-5" "01804" "EDEM3_000003" "g.184718703T>C" "" "" "" "EDEM3(NM_001319960.1):c.182A>G (p.D61G), EDEM3(NM_025191.4):c.182A>G (p.(Asp61Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## 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 EDEM3 ## Count = 31 "{{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}}" "0000504413" "00006868" "50" "1366" "0" "1366" "0" "c.1366G>A" "r.(?)" "p.(Asp456Asn)" "" "0000504414" "00006868" "50" "182" "0" "182" "0" "c.182A>G" "r.(?)" "p.(Asp61Gly)" "" "0000504415" "00006868" "50" "4" "0" "4" "0" "c.4A>T" "r.(?)" "p.(Ser2Cys)" "" "0000790856" "00006868" "70" "1859" "0" "1859" "0" "c.1859del" "r.(?)" "p.(Ile620ThrfsTer7)" "" "0000790857" "00006868" "70" "1859" "0" "1859" "0" "c.1859del" "r.(?)" "p.(Ile620ThrfsTer7)" "" "0000790858" "00006868" "70" "1859" "0" "1859" "0" "c.1859del" "r.(?)" "p.(Ile620ThrfsTer7)" "" "0000790859" "00006868" "70" "1859" "0" "1859" "0" "c.1859del" "r.(?)" "p.(Ile620ThrfsTer7)" "" "0000790860" "00006868" "70" "1859" "0" "1859" "0" "c.1859del" "r.(?)" "p.(Ile620ThrfsTer7)" "" "0000790861" "00006868" "70" "2001" "0" "2001" "0" "c.2001dup" "r.(?)" "p.(Ala668SerfsTer9)" "" "0000790862" "00006868" "70" "2001" "0" "2001" "0" "c.2001dup" "r.(?)" "p.(Ala668SerfsTer9)" "" "0000790863" "00006868" "70" "2001" "0" "2001" "0" "c.2001dup" "r.(?)" "p.(Ala668SerfsTer9)" "" "0000790864" "00006868" "70" "940" "0" "940" "0" "c.940A>T" "r.(?)" "p.(Arg314Ter)" "" "0000790865" "00006868" "70" "1407" "0" "1407" "0" "c.1407T>A" "r.(?)" "p.(Tyr469Ter)" "" "0000790866" "00006868" "70" "1382" "0" "1385" "0" "c.1382_1385del" "r.(?)" "p.(Phe461SerfsTer23)" "" "0000790867" "00006868" "70" "1366" "0" "1366" "0" "c.1366G>A" "r.(?)" "p.(Asp456Asn)" "" "0000790868" "00006868" "70" "1369" "0" "1369" "0" "c.1369del" "r.(?)" "p.(Arg457GlufsTer28)" "" "0000790869" "00006868" "70" "1369" "0" "1369" "0" "c.1369del" "r.(?)" "p.(Arg457GlufsTer28)" "" "0000790870" "00006868" "70" "1369" "0" "1369" "0" "c.1369del" "r.(?)" "p.(Arg457GlufsTer28)" "" "0000790871" "00006868" "70" "853" "1" "853" "1" "c.853+1G>T" "r.spl" "p.?" "" "0000790872" "00006868" "70" "182" "0" "182" "0" "c.182A>G" "r.(?)" "p.(Asp61Gly)" "" "0000857171" "00006868" "50" "1146" "0" "1147" "0" "c.1146_1147del" "r.(?)" "p.(His382Glnfs*33)" "" "0000923020" "00006868" "10" "1860" "0" "1860" "0" "c.1860C>T" "r.(?)" "p.(Ile620=)" "" "0000973501" "00006868" "50" "1034" "0" "1034" "0" "c.1034G>A" "r.(?)" "p.(Arg345Gln)" "" "0000973502" "00006868" "50" "994" "0" "994" "0" "c.994C>G" "r.(?)" "p.(Leu332Val)" "" "0000990621" "00006868" "30" "2591" "0" "2591" "0" "c.2591C>T" "r.(?)" "p.(Thr864Ile)" "" "0000990622" "00006868" "50" "2554" "0" "2554" "0" "c.2554dup" "r.(?)" "p.(Met852Asnfs*11)" "" "0000990623" "00006868" "50" "1657" "0" "1657" "0" "c.1657G>A" "r.(?)" "p.(Val553Met)" "" "0000990624" "00006868" "50" "1133" "0" "1133" "0" "c.1133T>G" "r.(?)" "p.(Val378Gly)" "" "0000990625" "00006868" "30" "814" "0" "814" "0" "c.814G>C" "r.(?)" "p.(Val272Leu)" "" "0001031526" "00006868" "50" "2241" "0" "2241" "0" "c.2241G>T" "r.(?)" "p.(=)" "" "0001031527" "00006868" "90" "182" "0" "182" "0" "c.182A>G" "r.(?)" "p.(Asp61Gly)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 17 "{{screeningid}}" "{{variantid}}" "0000378177" "0000790856" "0000378178" "0000790857" "0000378179" "0000790858" "0000378180" "0000790859" "0000378181" "0000790860" "0000378182" "0000790861" "0000378182" "0000790868" "0000378183" "0000790862" "0000378183" "0000790869" "0000378184" "0000790863" "0000378184" "0000790870" "0000378185" "0000790864" "0000378186" "0000790865" "0000378186" "0000790871" "0000378187" "0000790866" "0000378188" "0000790867" "0000378188" "0000790872"