### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DSE) # 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}}" "DSE" "dermatan sulfate epimerase" "6" "q22.1" "unknown" "LRG_1184" "UD_133034057281" "" "https://www.LOVD.nl/DSE" "" "1" "21144" "29940" "605942" "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/DSE_codingDNA.html" "1" "" "

Ehlers Danlos Syndrome Variant Database

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" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00085" "2023-06-20 10:30:32" "00000" "2023-11-27 17:35:39" ## 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}}" "00006714" "DSE" "transcript variant 1" "002" "NM_013352.2" "" "NP_037484.1" "" "" "" "-228" "3811" "2877" "116692110" "116759442" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00169" "EDS" "Ehlers-Danlos syndrome (EDS)" "" "" "" "" "" "00006" "2013-08-01 11:03:44" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "03992" "EDSMC2" "Ehlers-Danlos, musculocontractural syndrome, type 2 (EDSMC2)" "AR" "615539" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05753" "EDSMC" "Ehlers-Danlos, musculocontractural syndrome (EDSMC)" "" "" "" "" "" "00006" "2020-05-19 16:09:03" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "DSE" "03992" "DSE" "05753" ## Individuals ## Do not remove or alter this header ## ## Count = 17 "{{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}}" "00293961" "" "" "" "190" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293962" "" "" "" "97" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00301625" "" "" "" "1" "" "00006" "{PMID:Müller 2013:23704329}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "India" "" "0" "" "" "" "FamPat1" "00301631" "" "" "" "2" "" "01819" "{PMID:Syx 2015:25703627}" "2-generation family, 2 affected sisters (2F)" "F" "no" "Spain" "" "0" "" "" "" "P6" "00301632" "" "" "00301631" "1" "" "01819" "{PMID:Syx 2015:25703627}" "" "F" "no" "Spain" "" "0" "" "" "" "P7" "00305051" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00319816" "" "" "" "1" "" "00085" "{PMID:Ranza 2017:28229453}" "The patient initially had an unknown clinical diagnosis, and was reclassified due to the discovery of the variants. The technique used was whole exome sequencing." "" "" "Morocco" "" "0" "" "" "Moroccan" "Patient 18" "00319817" "" "" "" "1" "" "00085" "{PMID:Lautrup 2020:32130795}" "The patient\'s urine sample was analysed, showing a lack of dermatan sulfate dissacharide. The patient was born of consanguineous parents." "" "" "Turkey" "" "0" "" "" "Turkish" "Patient 1" "00319818" "" "" "" "1" "" "00085" "{PMID:Lautrup 2020:32130795}" "The patient has an older brother (Patient 3) who also carries the same variants and displays the phenotype. They were born of consanguineous parents." "" "" "India" "" "0" "" "" "Indian" "Patient 2" "00319819" "" "" "" "1" "" "00085" "{PMID:Schirwani 2020:31655143}" "The variant is presumed to be a true homozygote, but sequencing of the patient\'s parents was not feasible. The technique used was whole exome sequencing." "" "" "Portugal" "" "0" "" "" "Portuguese" "Patient 1" "00319820" "" "" "" "1" "" "00085" "{PMID:Schirwani 2020:31655143}" "The variant is predicted by in silico analysis to be damaging at a highly conserved amino acid, but there is no functional evidence. The technique used was the custom exome panel." "" "" "Pakistan" "" "0" "" "" "Pakistani" "Patient 2" "00403161" "" "" "" "5" "" "00006" "{PMID:Ullah 2021:34184791}" "5-generation family, 5 affected (3F, 2M), unaffected heterozygous carrier parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "" "FamPatV1" "00403162" "" "" "00403161" "1" "" "00006" "{PMID:Ullah 2021:34184791}" "sister of PatV1" "F" "yes" "Pakistan" "" "0" "" "" "" "FamPatV2" "00403163" "" "" "00403161" "1" "" "00006" "{PMID:Ullah 2021:34184791}" "brother of PatV1" "M" "yes" "Pakistan" "" "0" "" "" "" "FamPatV3" "00403164" "" "" "00403161" "1" "" "00006" "{PMID:Ullah 2021:34184791}" "niece of PatV1" "F" "yes" "Pakistan" "" "0" "" "" "" "FamPatV4" "00403165" "" "" "00403161" "1" "" "00006" "{PMID:Ullah 2021:34184791}" "sister of PatV4" "F" "yes" "Pakistan" "" "0" "" "" "" "FamPatV5" "00411553" "" "" "" "1" "" "04335" "{PMID:Minatogawa 2022:35842784}" "2-generation family, 1 affected, unaffected heterozygous carrier parents (2nd cousins)" "M" "yes" "Japan" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 22 "{{individualid}}" "{{diseaseid}}" "00293961" "00198" "00293962" "00198" "00301625" "00169" "00301631" "00169" "00301632" "00169" "00305051" "00198" "00319816" "00169" "00319816" "05753" "00319817" "00169" "00319817" "05753" "00319818" "00169" "00319818" "05753" "00319819" "00169" "00319819" "05753" "00319820" "00169" "00319820" "05753" "00403161" "00169" "00403162" "00169" "00403163" "00169" "00403164" "00169" "00403165" "00169" "00411553" "03992" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00169, 00198, 03992, 05753 ## Count = 9 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Hearing/Problems}}" "{{Phenotype/Enzyme/CreatineKinase}}" "{{Phenotype/Muscle/Electromyography}}" "{{Phenotype/Muscle/Biopsy}}" "{{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}}" "0000228725" "00169" "00301625" "00006" "Familial, autosomal recessive" "02y" "see paper; ..., facial dysmorphism, frontal bossing, open anterior fontanelle, downward-slanting palpebral fissures, telecanthus, bluish sclerae, high arched palate, tent-shaped lips, dental crowding, brachycephaly, prominent ears; arachnodactyly, adducted thumbs, joint hyperlaxity, inguinal hernia, congenital bilateral talipes equino varus; hypermobility finger, elbow, and knee joints; tendency to atrophic scarring skin" "" "" "" "" "" "" "" "" "" "" "" "" "" "musculocontractural EDS" "" "0000228731" "00169" "00301631" "01819" "Familial, autosomal recessive" "48y" "see paper; ..., blue sclerae; telecanthus/hypertelorism; down‐slanting palpebral fissures; short palpebral fissures; short nose with hypoplastic columella; no long philtrum; thin upper lip vermilion; small mouth; midfacial hypoplasia; ear deformities; no flexed/adducted thumbs; talipes equinovarus; contractures fingers; muscular hypotonia; no kyphoscoliosis; tapering fingers / toes; hyperextensible skin; thin, fragile, transparent skin; easy bruising; large, subcutaneous haematoma; fine palmar creases; cardiovascular abnormalities; valvular abnormality" "" "" "" "" "" "" "" "" "" "" "" "" "EDSMC2" "musculocontractural EDS" "" "0000228732" "00169" "00301632" "01819" "Familial, autosomal recessive" "39y" "see paper; ..., blue sclerae; telecanthus/hypertelorism; down‐slanting palpebral fissures; short palpebral fissures; short nose with hypoplastic columella; long philtrum; thin upper lip vermilion; small mouth; midfacial hypoplasia; ear deformities; no flexed/adducted thumbs; talipes equinovarus; contractures fingers; muscular hypotonia; kyphoscoliosis; tapering fingers / toes; hyperextensible skin; thin, fragile, transparent skin; easy bruising; large, subcutaneous haematoma; fine palmar creases; no cardiovascular abnormalities; hernia" "" "" "" "" "" "" "" "" "" "" "" "" "EDSMC2" "musculocontractural EDS" "" "0000295904" "00169" "00403161" "00006" "Familial, autosomal recessive" "17y" "small mouth/micro-retrognathia (infancy); hypertelorism; down-slanting palpebral fissures; broad tall nasal bridge; long philtrum and/or thin upper lip vermilion; no congenital multiple contractures; talipes equinovarus; no spinal deformities; long slender fingers; joint hypermobility; feet surgery performed; no skin hyperextensibility; no skin bruisability; no skin fragility; no atrophic scars skin; mild hypertropia; no hearing impairment; no hypotonia; no motor developmental delay" "00y00m00d" "" "" "" "" "" "" "" "" "" "" "" "EDSMC2" "Ehlers-Danlos syndrome" "" "0000295905" "00169" "00403162" "00006" "Familial, autosomal recessive" "11y" "small mouth/micro-retrognathia (infancy); hypertelorism; down-slanting palpebral fissures; broad tall nasal bridge; long philtrum and/or thin upper lip vermilion; no congenital multiple contractures; talipes equinovarus; no spinal deformities; long slender fingers; joint hypermobility; feet surgery performed; no skin hyperextensibility; no skin bruisability; no skin fragility; no atrophic scars skin; mild hypertropia; no hearing impairment; no hypotonia; no motor developmental delay" "00y00m00d" "" "" "" "" "" "" "" "" "" "" "" "EDSMC2" "Ehlers-Danlos syndrome" "" "0000295906" "00169" "00403163" "00006" "Familial, autosomal recessive" "7y" "small mouth/micro-retrognathia (infancy); hypertelorism; down-slanting palpebral fissures; broad tall nasal bridge; long philtrum and/or thin upper lip vermilion; no congenital multiple contractures; talipes equinovarus; no spinal deformities; long slender fingers; joint hypermobility; feet surgery performed; no skin hyperextensibility; no skin bruisability; no skin fragility; no atrophic scars skin; mild hypertropia; no hearing impairment; no hypotonia; no motor developmental delay" "00y00m00d" "" "" "" "" "" "" "" "" "" "" "" "EDSMC2" "Ehlers-Danlos syndrome" "" "0000295907" "00169" "00403164" "00006" "Familial, autosomal recessive" "4y" "small mouth/micro-retrognathia (infancy); hypertelorism; broad tall nasal bridge; long philtrum and/or thin upper lip vermilion; no congenital multiple contractures; talipes equinovarus; no spinal deformities; long slender fingers; joint hypermobility; feet surgery performed; no skin hyperextensibility; no skin bruisability; no skin fragility; no atrophic scars skin; mild hypertropia; no hearing impairment; no hypotonia; no motor developmental delay" "00y00m00d" "" "" "" "" "" "" "" "" "" "" "" "EDSMC2" "Ehlers-Danlos syndrome" "" "0000295908" "00169" "00403165" "00006" "Familial, autosomal recessive" "1y" "small mouth/micro-retrognathia (infancy); hypertelorism; broad tall nasal bridge; long philtrum and/or thin upper lip vermilion; no congenital multiple contractures; talipes equinovarus; no spinal deformities; long slender fingers; joint hypermobility; feet surgery performed; no skin hyperextensibility; no skin bruisability; no skin fragility; no atrophic scars skin; mild hypertropia; no hearing impairment; no hypotonia; no motor developmental delay" "00y00m00d" "" "" "" "" "" "" "" "" "" "" "" "EDSMC2" "Ehlers-Danlos syndrome" "" "0000303584" "03992" "00411553" "04335" "Familial, autosomal recessive" "37y" "see paper" "" "" "" "" "" "35y" "" "" "" "" "" "" "EDSMC2" "musculocontractural Ehlers-Danlos syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 17 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000295129" "00293961" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295130" "00293962" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000302750" "00301625" "1" "00006" "00006" "2020-05-19 16:23:49" "" "" "SEQ" "DNA" "" "" "0000302756" "00301631" "1" "01819" "00006" "2020-05-19 18:48:52" "" "" "SEQ" "DNA" "" "" "0000302757" "00301632" "1" "01819" "00006" "2020-05-19 18:48:52" "" "" "SEQ" "DNA" "" "" "0000306180" "00305051" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000320997" "00319816" "1" "00085" "00085" "2020-06-09 14:55:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000320998" "00319817" "1" "00085" "00085" "2020-06-09 14:09:37" "" "" "SEQ" "DNA" "" "" "0000320999" "00319818" "1" "00085" "00085" "2020-06-09 14:12:26" "" "" "SEQ" "DNA" "" "" "0000321000" "00319819" "1" "00085" "00085" "2020-06-09 13:41:23" "00085" "2020-06-09 13:45:40" "SEQ;SEQ-NG" "DNA" "" "" "0000321001" "00319820" "1" "00085" "00085" "2020-06-09 13:48:44" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000404402" "00403161" "1" "00006" "00006" "2022-02-17 17:05:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000404403" "00403162" "1" "00006" "00006" "2022-02-17 17:05:36" "" "" "SEQ" "DNA" "" "" "0000404404" "00403163" "1" "00006" "00006" "2022-02-17 17:05:36" "" "" "SEQ" "DNA" "" "" "0000404405" "00403164" "1" "00006" "00006" "2022-02-17 17:05:36" "" "" "SEQ" "DNA" "" "" "0000404406" "00403165" "1" "00006" "00006" "2022-02-17 17:05:36" "" "" "SEQ" "DNA" "" "" "0000412823" "00411553" "1" "04335" "04335" "2022-06-16 09:09:05" "" "" "SEQ-NG-IT" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{geneid}}" "0000302750" "DSE" "0000302756" "DSE" "0000302757" "DSE" "0000320997" "DSE" "0000320998" "DSE" "0000320999" "DSE" "0000321000" "DSE" "0000321001" "DSE" "0000404402" "DSE" "0000404403" "DSE" "0000404404" "DSE" "0000404405" "DSE" "0000404406" "DSE" ## 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 = 45 "{{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}}" "0000250142" "0" "10" "6" "116752290" "116752290" "subst" "0.0295135" "02329" "DSE_000028" "g.116752290A>G" "" "" "" "DSE(NM_013352.4):c.844A>G (p.I282V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116431127A>G" "" "benign" "" "0000250363" "0" "30" "6" "116757636" "116757636" "subst" "0.000142301" "02329" "DSE_000010" "g.116757636A>G" "" "" "" "DSE(NM_013352.4):c.2005A>G (p.I669V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116436473A>G" "" "likely benign" "" "0000268751" "0" "10" "6" "116720514" "116720514" "subst" "0.0445221" "02329" "DSE_000023" "g.116720514C>T" "" "" "" "DSE(NM_013352.4):c.101C>T (p.P34L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116399351C>T" "" "benign" "" "0000268752" "0" "10" "6" "116756773" "116756773" "subst" "0.0566748" "02329" "DSE_000008" "g.116756773T>C" "" "" "" "DSE(NM_013352.4):c.1142T>C (p.V381A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116435610T>C" "" "benign" "" "0000268753" "0" "30" "6" "116720527" "116720527" "subst" "0.00130393" "02329" "DSE_000025" "g.116720527C>T" "" "" "" "DSE(NM_013352.4):c.114C>T (p.A38=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116399364C>T" "" "likely benign" "" "0000268754" "0" "10" "6" "116757557" "116757557" "subst" "0.95377" "02329" "DSE_000009" "g.116757557T>C" "" "" "" "DSE(NM_013352.4):c.1926T>C (p.N642=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116436394T>C" "" "benign" "" "0000268755" "0" "10" "6" "116720622" "116720622" "subst" "0.00978409" "02329" "DSE_000026" "g.116720622G>A" "" "" "" "DSE(NM_013352.4):c.209G>A (p.R70H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116399459G>A" "" "benign" "" "0000268756" "0" "10" "6" "116752157" "116752157" "subst" "0.00516184" "02329" "DSE_000027" "g.116752157G>C" "" "" "" "DSE(NM_013352.4):c.711G>C (p.L237=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116430994G>C" "" "benign" "" "0000268757" "0" "10" "6" "116720487" "116720487" "subst" "0.225259" "02329" "DSE_000024" "g.116720487C>T" "" "" "" "DSE(NM_013352.4):c.74C>T (p.T25I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116399324C>T" "" "benign" "" "0000268758" "0" "50" "6" "116754530" "116754530" "subst" "0" "02329" "DSE_000029" "g.116754530C>T" "" "" "" "DSE(NM_013352.4):c.935C>T (p.A312V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116433367C>T" "" "VUS" "" "0000526934" "0" "30" "6" "116600160" "116600160" "subst" "0" "01943" "DSE_000011" "g.116600160G>A" "" "" "" "TSPYL1(NM_003309.3):c.834C>T (p.F278=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116278997G>A" "" "likely benign" "" "0000526935" "0" "30" "6" "116600237" "116600237" "subst" "0.000654317" "01943" "DSE_000012" "g.116600237G>A" "" "" "" "TSPYL1(NM_003309.3):c.757C>T (p.L253=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116279074G>A" "" "likely benign" "" "0000526937" "0" "30" "6" "116600816" "116600816" "subst" "0" "01943" "DSE_000014" "g.116600816G>T" "" "" "" "TSPYL1(NM_003309.3):c.178C>A (p.P60T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116279653G>T" "" "likely benign" "" "0000526938" "0" "30" "6" "116600895" "116600895" "subst" "0.00506047" "01943" "DSE_000015" "g.116600895G>A" "" "" "" "TSPYL1(NM_003309.3):c.99C>T (p.Y33=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116279732G>A" "" "likely benign" "" "0000526939" "0" "10" "6" "116720487" "116720487" "subst" "0.225259" "02327" "DSE_000024" "g.116720487C>T" "" "" "" "DSE(NM_013352.4):c.74C>T (p.T25I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116399324C>T" "" "benign" "" "0000526941" "0" "30" "6" "116752139" "116752139" "subst" "0.0000203094" "02329" "DSE_000016" "g.116752139A>G" "" "" "" "DSE(NM_013352.4):c.693A>G (p.L231=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116430976A>G" "" "likely benign" "" "0000526942" "0" "10" "6" "116754728" "116754728" "subst" "0.00277399" "02329" "DSE_000017" "g.116754728G>A" "" "" "" "DSE(NM_013352.4):c.1118+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116433565G>A" "" "benign" "" "0000526943" "0" "30" "6" "116756801" "116756801" "subst" "0" "02329" "DSE_000018" "g.116756801A>G" "" "" "" "DSE(NM_013352.4):c.1170A>G (p.T390=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116435638A>G" "" "likely benign" "" "0000526944" "0" "30" "6" "116756804" "116756804" "subst" "0.000113893" "02329" "DSE_000019" "g.116756804G>A" "" "" "" "DSE(NM_013352.4):c.1173G>A (p.L391=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116435641G>A" "" "likely benign" "" "0000526945" "0" "30" "6" "116757284" "116757284" "subst" "0.000113788" "02329" "DSE_000020" "g.116757284G>A" "" "" "" "DSE(NM_013352.4):c.1653G>A (p.L551=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116436121G>A" "" "likely benign" "" "0000526946" "0" "10" "6" "116758250" "116758252" "del" "0" "02329" "DSE_000021" "g.116758250_116758252del" "" "" "" "DSE(NM_013352.4):c.2619_2621delGGG (p.G874del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116437087_116437089del" "" "benign" "" "0000609952" "0" "10" "6" "116579992" "116579992" "subst" "0" "02327" "DSE_000022" "g.116579992G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116258829G>C" "" "benign" "" "0000651818" "1" "10" "6" "116720514" "116720514" "subst" "0.0445221" "03575" "DSE_000023" "g.116720514C>T" "190/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "190 heterozygous; {DB:CLININrs35548455}" "Germline" "" "rs35548455" "0" "" "" "g.116399351C>T" "" "benign" "" "0000651819" "1" "10" "6" "116752290" "116752290" "subst" "0.0295135" "03575" "DSE_000028" "g.116752290A>G" "97/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "97 heterozygous, no homozygous; {DB:CLININrs34994230}" "Germline" "" "rs34994230" "0" "" "" "g.116431127A>G" "" "benign" "" "0000666101" "3" "90" "6" "116752249" "116752249" "subst" "0" "00006" "DSE_000001" "g.116752249C>T" "" "{PMID:Müller 2013:23704329}" "" "" "" "Germline" "" "" "0" "" "" "g.116431086C>T" "" "pathogenic (recessive)" "" "0000666107" "3" "90" "6" "116752245" "116752245" "subst" "0" "01819" "DSE_000002" "g.116752245A>G" "" "{PMID:Syx 2015:25703627}" "" "" "" "Germline" "yes" "" "0" "" "" "g.116431082A>G" "" "pathogenic (recessive)" "" "0000666108" "3" "90" "6" "116752245" "116752245" "subst" "0" "01819" "DSE_000002" "g.116752245A>G" "" "{PMID:Syx 2015:25703627}" "" "" "" "Germline" "yes" "" "0" "" "" "g.116431082A>G" "" "pathogenic (recessive)" "" "0000669868" "3" "10" "6" "116720514" "116720514" "subst" "0.0445221" "03575" "DSE_000023" "g.116720514C>T" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 homozygous; {DB:CLININrs35548455}" "Germline" "" "rs35548455" "0" "" "" "g.116399351C>T" "" "benign" "" "0000703763" "3" "97" "6" "116747967" "116747967" "del" "0" "00085" "DSE_000007" "g.116747967delG" "" "{PMID:Ranza et al., 2017:28229453}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000703764" "3" "99" "6" "116754555" "116754555" "subst" "0" "00085" "DSE_000005" "g.116754555T>A" "" "{PMID:Lautrup 2020:32130795}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000703765" "3" "77" "6" "116754591" "116754591" "dup" "0" "00085" "DSE_000006" "g.116754591dupT" "" "{PMID:Lautrup 2020:32130795}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000703766" "3" "77" "6" "116756781" "116756788" "del" "0" "00085" "DSE_000003" "g.116756781_116756788del" "" "{PMID:Schirwani 2020:31655143}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000703767" "3" "77" "6" "116757394" "116757394" "subst" "0" "00085" "DSE_000004" "g.116757394A>G" "" "{PMID:Schirwani 2020:31655143}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000720644" "0" "10" "6" "116756773" "116756773" "subst" "0.0566748" "02327" "DSE_000008" "g.116756773T>C" "" "" "" "DSE(NM_013352.4):c.1142T>C (p.V381A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000720645" "0" "50" "6" "116757472" "116757472" "subst" "0.0000284403" "02327" "DSE_000030" "g.116757472A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000840115" "3" "70" "6" "116758444" "116758444" "subst" "0.00000406448" "00006" "DSE_000031" "g.116758444T>A" "" "{PMID:Ullah 2021:34184791}" "" "" "" "Germline" "yes" "" "0" "" "" "g.116437281T>A" "" "likely pathogenic (recessive)" "" "0000840116" "3" "70" "6" "116758444" "116758444" "subst" "0.00000406448" "00006" "DSE_000031" "g.116758444T>A" "" "{PMID:Ullah 2021:34184791}" "" "" "" "Germline" "yes" "" "0" "" "" "g.116437281T>A" "" "likely pathogenic (recessive)" "" "0000840117" "3" "70" "6" "116758444" "116758444" "subst" "0.00000406448" "00006" "DSE_000031" "g.116758444T>A" "" "{PMID:Ullah 2021:34184791}" "" "" "" "Germline" "yes" "" "0" "" "" "g.116437281T>A" "" "likely pathogenic (recessive)" "" "0000840118" "3" "70" "6" "116758444" "116758444" "subst" "0.00000406448" "00006" "DSE_000031" "g.116758444T>A" "" "{PMID:Ullah 2021:34184791}" "" "" "" "Germline" "yes" "" "0" "" "" "g.116437281T>A" "" "likely pathogenic (recessive)" "" "0000840119" "3" "70" "6" "116758444" "116758444" "subst" "0.00000406448" "00006" "DSE_000031" "g.116758444T>A" "" "{PMID:Ullah 2021:34184791}" "" "" "" "Germline" "yes" "" "0" "" "" "g.116437281T>A" "" "likely pathogenic (recessive)" "" "0000870196" "3" "99" "6" "116758232" "116758232" "subst" "0" "04335" "DSE_000032" "g.116758232C>A" "" "{PMID:Minatogawa 2022:35842784}" "" "" "" "Germline" "" "" "0" "" "" "g.116437069C>A" "" "pathogenic (recessive)" "" "0000924417" "0" "10" "6" "116752290" "116752290" "subst" "0.0295135" "02327" "DSE_000028" "g.116752290A>G" "" "" "" "DSE(NM_013352.4):c.844A>G (p.I282V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000929134" "0" "30" "6" "116720350" "116720350" "subst" "0.0000383606" "02329" "DSE_000033" "g.116720350A>G" "" "" "" "DSE(NM_013352.4):c.-53-11A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948620" "0" "30" "6" "116599896" "116599896" "subst" "0.00363908" "01804" "DSE_000034" "g.116599896G>T" "" "" "" "TSPYL1(NM_003309.3):c.1098C>A (p.(Phe366Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948621" "0" "30" "6" "116720429" "116720429" "subst" "0.00002033" "02329" "DSE_000035" "g.116720429C>A" "" "" "" "DSE(NM_013352.4):c.16C>A (p.R6=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 DSE ## Count = 45 "{{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}}" "{{VariantOnTranscript/Variant/Type}}" "{{VariantOnTranscript/Consequence/Predicted}}" "0000250142" "00006714" "10" "844" "0" "844" "0" "c.844A>G" "r.(?)" "p.(Ile282Val)" "" "" "" "0000250363" "00006714" "30" "2005" "0" "2005" "0" "c.2005A>G" "r.(?)" "p.(Ile669Val)" "" "" "" "0000268751" "00006714" "10" "101" "0" "101" "0" "c.101C>T" "r.(?)" "p.(Pro34Leu)" "" "" "" "0000268752" "00006714" "10" "1142" "0" "1142" "0" "c.1142T>C" "r.(?)" "p.(Val381Ala)" "" "" "" "0000268753" "00006714" "30" "114" "0" "114" "0" "c.114C>T" "r.(?)" "p.(Ala38=)" "" "" "" "0000268754" "00006714" "10" "1926" "0" "1926" "0" "c.1926=" "r.(=)" "p.(Asn642=)" "" "" "" "0000268755" "00006714" "10" "209" "0" "209" "0" "c.209G>A" "r.(?)" "p.(Arg70His)" "" "" "" "0000268756" "00006714" "10" "711" "0" "711" "0" "c.711G>C" "r.(?)" "p.(Leu237=)" "" "" "" "0000268757" "00006714" "10" "74" "0" "74" "0" "c.74C>T" "r.(?)" "p.(Thr25Ile)" "" "" "" "0000268758" "00006714" "50" "935" "0" "935" "0" "c.935C>T" "r.(?)" "p.(Ala312Val)" "" "" "" "0000526934" "00006714" "30" "-92178" "0" "-92178" "0" "c.-92178G>A" "r.(?)" "p.(=)" "" "" "" "0000526935" "00006714" "30" "-92101" "0" "-92101" "0" "c.-92101G>A" "r.(?)" "p.(=)" "" "" "" "0000526937" "00006714" "30" "-91522" "0" "-91522" "0" "c.-91522G>T" "r.(?)" "p.(=)" "" "" "" "0000526938" "00006714" "30" "-91443" "0" "-91443" "0" "c.-91443G>A" "r.(?)" "p.(=)" "" "" "" "0000526939" "00006714" "10" "74" "0" "74" "0" "c.74C>T" "r.(?)" "p.(Thr25Ile)" "" "" "" "0000526941" "00006714" "30" "693" "0" "693" "0" "c.693A>G" "r.(?)" "p.(Leu231=)" "" "" "" "0000526942" "00006714" "10" "1118" "15" "1118" "15" "c.1118+15G>A" "r.(=)" "p.(=)" "" "" "" "0000526943" "00006714" "30" "1170" "0" "1170" "0" "c.1170A>G" "r.(?)" "p.(Thr390=)" "" "" "" "0000526944" "00006714" "30" "1173" "0" "1173" "0" "c.1173G>A" "r.(?)" "p.(Leu391=)" "" "" "" "0000526945" "00006714" "30" "1653" "0" "1653" "0" "c.1653G>A" "r.(?)" "p.(Leu551=)" "" "" "" "0000526946" "00006714" "10" "2619" "0" "2621" "0" "c.2619_2621del" "r.(?)" "p.(Gly874del)" "" "" "" "0000609952" "00006714" "10" "-112346" "0" "-112346" "0" "c.-112346G>C" "r.(?)" "p.(=)" "" "" "" "0000651818" "00006714" "10" "101" "0" "101" "0" "c.101C>T" "r.(?)" "p.(Pro34Leu)" "" "" "" "0000651819" "00006714" "10" "844" "0" "844" "0" "c.844A>G" "r.(?)" "p.(Ile282Val)" "" "" "" "0000666101" "00006714" "90" "803" "0" "803" "0" "c.803C>T" "r.(?)" "p.(Ser268Leu)" "" "" "" "0000666107" "00006714" "90" "799" "0" "799" "0" "c.799A>G" "r.(?)" "p.(Arg267Gly)" "" "" "" "0000666108" "00006714" "90" "799" "0" "799" "0" "c.799A>G" "r.(?)" "p.(Arg267Gly)" "" "" "" "0000669868" "00006714" "10" "101" "0" "101" "0" "c.101C>T" "r.(?)" "p.(Pro34Leu)" "" "" "" "0000703763" "00006714" "97" "647" "0" "647" "0" "c.647delG" "r.?" "p.(Gly216Glufs*3)" "3" "deletion" "frameshift" "0000703764" "00006714" "99" "960" "0" "960" "0" "c.960T>A" "r.?" "p.(Tyr320*)" "5" "substitution" "nonsense" "0000703765" "00006714" "77" "996" "0" "996" "0" "c.996dupT" "r.?" "p.(Val333Cysfs*4)" "5" "duplication" "frameshift" "0000703766" "00006714" "77" "1150" "0" "1157" "0" "c.1150_1157del" "r.?" "p.(Pro384Trpfs*9)" "6" "deletion" "frameshift" "0000703767" "00006714" "77" "1763" "0" "1763" "0" "c.1763A>G" "r.?" "p.(His588Arg)" "6" "substitution" "missense" "0000720644" "00006714" "10" "1142" "0" "1142" "0" "c.1142T>C" "r.(?)" "p.(Val381Ala)" "" "" "" "0000720645" "00006714" "50" "1841" "0" "1841" "0" "c.1841A>G" "r.(?)" "p.(Tyr614Cys)" "" "" "" "0000840115" "00006714" "70" "2813" "0" "2813" "0" "c.2813T>A" "r.(?)" "p.(Val938Asp)" "" "" "" "0000840116" "00006714" "70" "2813" "0" "2813" "0" "c.2813T>A" "r.(?)" "p.(Val938Asp)" "" "" "" "0000840117" "00006714" "70" "2813" "0" "2813" "0" "c.2813T>A" "r.(?)" "p.(Val938Asp)" "" "" "" "0000840118" "00006714" "70" "2813" "0" "2813" "0" "c.2813T>A" "r.(?)" "p.(Val938Asp)" "" "" "" "0000840119" "00006714" "70" "2813" "0" "2813" "0" "c.2813T>A" "r.(?)" "p.(Val938Asp)" "" "" "" "0000870196" "00006714" "99" "2601" "0" "2601" "0" "c.2601C>A" "r.(?)" "p.(Tyr867*)" "6" "substitution" "nonsense" "0000924417" "00006714" "10" "844" "0" "844" "0" "c.844A>G" "r.(?)" "p.(Ile282Val)" "" "" "" "0000929134" "00006714" "30" "-53" "-11" "-53" "-11" "c.-53-11A>G" "r.(=)" "p.(=)" "" "" "" "0000948620" "00006714" "30" "-92442" "0" "-92442" "0" "c.-92442G>T" "r.(?)" "p.(=)" "" "" "" "0000948621" "00006714" "30" "16" "0" "16" "0" "c.16C>A" "r.(?)" "p.(=)" "" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 17 "{{screeningid}}" "{{variantid}}" "0000295129" "0000651818" "0000295130" "0000651819" "0000302750" "0000666101" "0000302756" "0000666107" "0000302757" "0000666108" "0000306180" "0000669868" "0000320997" "0000703763" "0000320998" "0000703764" "0000320999" "0000703765" "0000321000" "0000703766" "0000321001" "0000703767" "0000404402" "0000840115" "0000404403" "0000840116" "0000404404" "0000840117" "0000404405" "0000840118" "0000404406" "0000840119" "0000412823" "0000870196"