### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = LSS) # 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}}" "LSS" "lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)" "21" "q22.3" "unknown" "NC_000021.8" "UD_132118286200" "" "https://www.LOVD.nl/LSS" "" "1" "6708" "4047" "600909" "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/LSS_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-06-03 15:34:09" "00006" "2025-11-09 20:55:00" ## 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}}" "00025991" "LSS" "transcript variant 1" "003" "NM_002340.5" "" "NP_002331.3" "" "" "" "-79" "4179" "2199" "47648738" "47609038" "00006" "2025-06-03 15:34:28" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00296" "CTRCT" "cataract (CTRCT)" "" "" "" "" "" "00006" "2014-01-16 08:42:13" "00006" "2015-03-07 14:30:33" "04564" "CTRCT44" "cataract, type 44 (CTRCT-44)" "AR" "616509" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2021-12-10 21:51:32" "05575" "HYPT" "Hypotrichosis (HYPT)" "" "" "" "" "" "00006" "2019-02-17 12:06:15" "" "" "06526" "HYPT14" "Hypotrichosis 14" "AR" "618275" "" "" "" "00006" "2021-12-10 23:20:41" "" "" "06532" "APMR4" "Alopecia-mental retardation syndrome 4" "AR" "618840" "" "" "" "00006" "2021-12-10 23:20:41" "" "" "07094" "APMR" "alopecia-mental retardation syndrome" "" "" "" "" "" "00006" "2024-06-28 15:12:57" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "LSS" "04564" "LSS" "06526" "LSS" "06532" "LSS" "07094" ## Individuals ## Do not remove or alter this header ## ## Count = 15 "{{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}}" "00225485" "" "" "" "4" "" "00006" "{PMID:Romano 2018:30401459}, {DOI:Romano 2018:10.1016/j.ajhg.2018.09.011}" "3-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents/relatives" "F;M" "" "Afghanistan" "" "0" "" "" "" "30401459-FamHSPatII1/II2/III2" "00225486" "" "" "" "2" "" "00006" "{PMID:Romano 2018:30401459}, {DOI:Romano 2018:10.1016/j.ajhg.2018.09.011}" "2-generation family, affected sisters, unaffected heterozygous carrier parents" "F" "" "Germany" "" "0" "" "" "Arab" "30401460-FamA" "00225487" "" "" "" "2" "" "00006" "{PMID:Romano 2018:30401459}, {DOI:Romano 2018:10.1016/j.ajhg.2018.09.011}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "F;M" "" "Switzerland" "" "0" "" "" "" "30401460-FamB" "00225488" "" "" "00225485" "1" "" "00006" "{PMID:Romano 2018:30401459}, {DOI:Romano 2018:10.1016/j.ajhg.2018.09.011}" "" "F" "no" "Afghanistan" "" "0" "" "" "" "30401459-FamHSPatIII3" "00451687" "" "" "" "3" "" "04679" "{PMID:Elaraby 2022:36251212}, {DOI:Elaraby 2022:10.1007/s12031-022-02074-y}" "4-generation family, 3 affected sibs (2F, fetus)" "F" "yes" "Egypt" "" "0" "" "" "" "patient" "00465639" "" "" "" "1" "" "04459" "" "" "" "" "China" "" "" "" "" "" "22021" "00465640" "" "" "" "1" "" "04459" "" "" "" "" "China" "" "" "" "" "" "23012" "00465641" "" "" "" "1" "" "04459" "" "" "" "" "China" "" "" "" "" "" "23018" "00465642" "" "" "" "1" "" "04459" "" "" "" "" "China" "" "" "" "" "" "24012" "00468325" "" "" "" "1" "" "00006" "{PMID:Guo 2025:40449652}" "patient, no family history" "M" "" "China" "" "0" "" "" "" "Fam34Pat4881" "00468486" "" "" "" "1" "" "00006" "{PMID:Wang 2024:38184101}" "patient, no family history" "F" "" "China" "" "0" "" "" "" "Pat45" "00468487" "" "" "" "1" "" "00006" "{PMID:Wang 2024:38184101}" "patient, no family history" "M" "" "China" "" "0" "" "" "" "Pat46" "00468488" "" "" "" "1" "" "00006" "{PMID:Wang 2024:38184101}" "patient, no family history" "F" "" "China" "" "0" "" "" "" "Pat47" "00468489" "" "" "" "1" "" "00006" "{PMID:Wang 2024:38184101}" "patient, no family history" "F" "" "China" "" "0" "" "" "" "Pat48" "00468490" "" "" "" "2" "" "00006" "{PMID:Wang 2024:38184101}" "family" "F" "" "China" "" "0" "" "" "" "Pat49" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 15 "{{individualid}}" "{{diseaseid}}" "00225485" "05575" "00225486" "05575" "00225487" "05575" "00225488" "05575" "00451687" "07094" "00465639" "06526" "00465640" "06526" "00465641" "06526" "00465642" "06526" "00468325" "00296" "00468486" "00296" "00468487" "00296" "00468488" "00296" "00468489" "00296" "00468490" "00296" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00296, 04564, 05575, 06526, 06532, 07094 ## Count = 10 "{{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}}" "0000170600" "05575" "00225485" "00006" "Familial, autosomal recessive" "" "see paper; …, progressive scalp/body hair loss" "" "" "" "" "" "" "" "" "hypotrichosis" "0000170601" "05575" "00225486" "00006" "Familial, autosomal recessive" "" "see paper; …, progressive scalp/body hair loss" "" "" "" "" "" "" "" "" "hypotrichosis" "0000170602" "05575" "00225487" "00006" "Familial, autosomal recessive" "" "see paper; …, progressive scalp/body hair loss" "" "" "" "" "" "" "" "" "hypotrichosis" "0000340347" "07094" "00451687" "04679" "Familial, autosomal recessive" "02y06m" "see paper; ...,respiratory distress; complete hair loss scalp, eyelashes, eyebrows; microcephalic (OFC -2.3 SD), normal weight, normal height; developmental delay; facial dysmorphism; short stature; growth retardation; umbilical hernia; hyperextensibility joints; tooth mineralization defect; dental deep overbite" "" "" "" "" "" "" "" "APMR4" "alopecia-mental retardation syndrome" "0000353477" "00296" "00468325" "00006" "Familial, autosomal recessive" "12.0y" "see paper; ..., nuclear cataract; nystagmus; 12y-surgery" "" "" "" "" "" "" "" "CTRCT44" "cataract" "0000353638" "00296" "00468486" "00006" "Familial, autosomal recessive" "" "nuclear cataract; symmetrical opacities; congenital alopecia，sparse and brittle eyebrows, sparse and thinned eyelashes, sparse hair on the extremities, and an absence of axillary and pubic hair" "1y" "" "" "" "" "" "" "APMR4" "bilateral cataract" "0000353639" "00296" "00468487" "00006" "Familial, autosomal recessive" "" "nuclear cataract; symmetrical opacities; congenital alopecia，sparse and brittle eyebrows, sparse and thinned eyelashes, sparse hair on the extremities, and an absence of axillary and pubic hair" "0y" "" "" "" "" "" "" "APMR4" "bilateral cataract" "0000353640" "00296" "00468488" "00006" "Familial, autosomal recessive" "" "nuclear cataract; symmetrical opacities; congenital alopecia，sparse and brittle eyebrows, sparse and thinned eyelashes, sparse hair on the extremities, and an absence of axillary and pubic hair" "1y" "" "" "" "" "" "" "APMR4" "bilateral cataract" "0000353641" "00296" "00468489" "00006" "Familial, autosomal recessive" "" "nuclear cataract; symmetrical opacities; congenital alopecia，sparse and brittle eyebrows, sparse and thinned eyelashes, sparse hair on the extremities, and an absence of axillary and pubic hair" "1y" "" "" "" "" "" "" "APMR4" "bilateral cataract" "0000353642" "00296" "00468490" "00006" "Familial, autosomal recessive" "" "nuclear cataract; symmetrical opacities; congenital alopecia，sparse and brittle eyebrows, sparse and thinned eyelashes, sparse hair on the extremities, and an absence of axillary and pubic hair" "0y" "" "" "" "" "" "" "APMR4" "bilateral cataract" ## Screenings ## Do not remove or alter this header ## ## Count = 15 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000226564" "00225485" "1" "00006" "00006" "2019-02-17 12:23:45" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226565" "00225486" "1" "00006" "00006" "2019-02-17 12:23:45" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226566" "00225487" "1" "00006" "00006" "2019-02-17 12:23:45" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226567" "00225488" "1" "00006" "00006" "2019-02-17 12:28:25" "" "" "SEQ" "DNA" "" "" "0000453290" "00451687" "1" "00006" "00006" "2024-06-28 15:19:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000467287" "00465639" "1" "04459" "04459" "2025-06-03 04:20:22" "" "" "SEQ-NG" "DNA" "" "" "0000467288" "00465640" "1" "04459" "04459" "2025-06-03 04:42:02" "" "" "SEQ-NG" "DNA" "" "" "0000467289" "00465641" "1" "04459" "04459" "2025-06-03 05:12:07" "" "" "SEQ-NG" "DNA" "" "" "0000467290" "00465642" "1" "04459" "04459" "2025-06-03 05:21:20" "" "" "SEQ-NG" "DNA" "" "" "0000469991" "00468325" "1" "00006" "00006" "2025-11-08 17:41:52" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000470153" "00468486" "1" "00006" "00006" "2025-11-09 20:53:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470154" "00468487" "1" "00006" "00006" "2025-11-09 20:53:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470155" "00468488" "1" "00006" "00006" "2025-11-09 20:53:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470156" "00468489" "1" "00006" "00006" "2025-11-09 20:53:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470157" "00468490" "1" "00006" "00006" "2025-11-09 20:53:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{geneid}}" "0000226564" "LSS" "0000226565" "LSS" "0000226566" "LSS" "0000226567" "LSS" "0000453290" "LSS" "0000467287" "LSS" "0000467288" "LSS" "0000467289" "LSS" "0000467290" "LSS" ## 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 = 56 "{{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}}" "0000291233" "0" "50" "21" "47635095" "47635095" "subst" "4.10293E-6" "01943" "LSS_000005" "g.47635095G>A" "" "" "" "LSS(NM_002340.6):c.1010C>T (p.P337L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46215181G>A" "" "VUS" "" "0000291234" "0" "10" "21" "47627429" "47627429" "subst" "0.00113304" "01943" "LSS_000004" "g.47627429G>A" "" "" "" "LSS(NM_001145437.1):c.1140C>T (p.A380=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46207515G>A" "" "benign" "" "0000291236" "0" "50" "21" "47614451" "47614451" "subst" "0" "01943" "LSS_000002" "g.47614451G>A" "" "" "" "LSS(NM_001001438.2):c.1942C>T (p.?), LSS(NM_001145437.1):c.1702C>T (p.Q568*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46194537G>A" "" "VUS" "" "0000291237" "0" "50" "21" "47614450" "47614450" "subst" "0" "01943" "LSS_000001" "g.47614450T>A" "" "" "" "LSS(NM_001001438.2):c.1943A>T (p.(Gln648Leu)), LSS(NM_001145437.1):c.1703A>T (p.Q568L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46194536T>A" "" "VUS" "" "0000291238" "0" "50" "21" "47639491" "47639491" "subst" "9.22841E-6" "01943" "LSS_000006" "g.47639491G>C" "" "" "" "LSS(NM_001145437.1):c.311-5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46219577G>C" "" "VUS" "" "0000291239" "0" "50" "21" "47648487" "47648487" "subst" "0" "01943" "LSS_000008" "g.47648487T>C" "" "" "" "LSS(NM_002340.6):c.41A>G (p.Y14C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46228573T>C" "" "VUS" "" "0000291240" "0" "50" "21" "47648479" "47648479" "subst" "0" "01943" "LSS_000007" "g.47648479C>T" "" "" "" "LSS(NM_002340.6):c.49G>A (p.E17K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46228565C>T" "" "VUS" "" "0000328763" "0" "50" "21" "47614450" "47614450" "subst" "0" "01804" "LSS_000001" "g.47614450T>A" "" "" "" "LSS(NM_001001438.2):c.1943A>T (p.(Gln648Leu)), LSS(NM_001145437.1):c.1703A>T (p.Q568L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46194536T>A" "" "VUS" "" "0000328764" "0" "50" "21" "47614451" "47614451" "subst" "0" "01804" "LSS_000002" "g.47614451G>A" "" "" "" "LSS(NM_001001438.2):c.1942C>T (p.?), LSS(NM_001145437.1):c.1702C>T (p.Q568*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46194537G>A" "" "VUS" "" "0000458901" "21" "90" "21" "47636343" "47636343" "subst" "1.21984E-5" "00006" "LSS_000009" "g.47636343A>G" "" "{PMID:Romano 2018:30401459}, {DOI:Romano 2018:10.1016/j.ajhg.2018.09.011}" "" "" "" "Germline" "yes" "" "0" "" "" "g.46216429A>G" "" "pathogenic (recessive)" "" "0000458902" "3" "90" "21" "47630624" "47630624" "subst" "4.06669E-6" "00006" "LSS_000011" "g.47630624A>G" "" "{PMID:Romano 2018:30401459}, {DOI:Romano 2018:10.1016/j.ajhg.2018.09.011}" "" "" "" "Germline" "yes" "" "0" "" "" "g.46210710A>G" "" "pathogenic (recessive)" "" "0000458903" "11" "90" "21" "47642549" "47642549" "subst" "0" "00006" "LSS_000012" "g.47642549C>T" "" "{PMID:Romano 2018:30401459}, {DOI:Romano 2018:10.1016/j.ajhg.2018.09.011}" "" "" "" "Germline" "yes" "" "0" "" "" "g.46222635C>T" "" "pathogenic (recessive)" "" "0000458904" "11" "90" "21" "47647481" "47647481" "subst" "0" "00006" "LSS_000010" "g.47647481G>C" "" "{PMID:Romano 2018:30401459}, {DOI:Romano 2018:10.1016/j.ajhg.2018.09.011}" "" "" "" "Germline" "yes" "" "0" "" "" "g.46227567G>C" "" "pathogenic (recessive)" "" "0000458905" "3" "90" "21" "47636343" "47636343" "subst" "1.21984E-5" "00006" "LSS_000009" "g.47636343A>G" "" "{PMID:Romano 2018:30401459}, {DOI:Romano 2018:10.1016/j.ajhg.2018.09.011}" "" "" "" "Germline" "yes" "" "0" "" "" "g.46216429A>G" "" "pathogenic (recessive)" "" "0000458906" "21" "90" "21" "47639412" "47639412" "subst" "4.25152E-6" "00006" "LSS_000013" "g.47639412T>A" "" "{PMID:Romano 2018:30401459}, {DOI:Romano 2018:10.1016/j.ajhg.2018.09.011}" "" "" "" "Germline" "yes" "" "0" "" "" "g.46219498T>A" "" "pathogenic (recessive)" "" "0000571081" "0" "10" "21" "47614397" "47614397" "subst" "0.00120482" "01943" "LSS_000014" "g.47614397G>A" "" "" "" "LSS(NM_001145437.1):c.1748+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46194483G>A" "" "benign" "" "0000571082" "0" "30" "21" "47627354" "47627354" "subst" "0.000227609" "01943" "LSS_000015" "g.47627354A>G" "" "" "" "LSS(NM_002340.6):c.1455T>C (p.D485=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46207440A>G" "" "likely benign" "" "0000571083" "0" "70" "21" "47627395" "47627395" "dup" "0" "01943" "LSS_000016" "g.47627395dup" "" "" "" "LSS(NM_001145437.1):c.1177dupC (p.H393Pfs*32)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46207481dup" "" "likely pathogenic" "" "0000571084" "0" "10" "21" "47635212" "47635212" "subst" "0.00295518" "01943" "LSS_000017" "g.47635212G>A" "" "" "" "LSS(NM_001145437.1):c.653C>T (p.A218V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46215298G>A" "" "benign" "" "0000571085" "0" "50" "21" "47642586" "47642586" "subst" "2.85274E-5" "02327" "LSS_000018" "g.47642586C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46222672C>T" "" "VUS" "" "0000618428" "0" "50" "21" "47633664" "47633664" "subst" "3.67623E-5" "01943" "LSS_000021" "g.47633664G>A" "" "" "" "LSS(NM_001145437.1):c.857C>T (p.P286L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46213750G>A" "" "VUS" "" "0000624243" "0" "50" "21" "47614474" "47614474" "subst" "3.25773E-5" "01943" "LSS_000020" "g.47614474C>T" "" "" "" "LSS(NM_002340.6):c.1919G>A (p.R640H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46194560C>T" "" "VUS" "" "0000658860" "0" "30" "21" "47627453" "47627453" "subst" "0.000100493" "01943" "LSS_000022" "g.47627453G>A" "" "" "" "LSS(NM_002340.6):c.1356C>T (p.I452=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46207539G>A" "" "likely benign" "" "0000681761" "0" "30" "21" "47629506" "47629506" "subst" "0" "01943" "LSS_000023" "g.47629506A>G" "" "" "" "LSS(NM_002340.6):c.1228T>C (p.C410R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46209592A>G" "" "likely benign" "" "0000693084" "0" "50" "21" "47641789" "47641789" "subst" "2.43645E-5" "01943" "LSS_000024" "g.47641789G>A" "" "" "" "LSS(NM_002340.6):c.529C>T (p.R177W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46221875G>A" "" "VUS" "" "0000728000" "0" "50" "21" "47642626" "47642626" "subst" "0.00149289" "01943" "LSS_000025" "g.47642626G>A" "" "" "" "LSS(NM_002340.6):c.346C>T (p.R116C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46222712G>A" "" "VUS" "" "0000728001" "0" "50" "21" "47648418" "47648418" "subst" "0" "01943" "LSS_000026" "g.47648418G>C" "" "" "" "LSS(NM_002340.6):c.110C>G (p.T37S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46228504G>C" "" "VUS" "" "0000809447" "0" "30" "21" "47615619" "47615619" "subst" "0.000540804" "01943" "LSS_000027" "g.47615619G>A" "" "" "" "LSS(NM_002340.6):c.1788C>T (p.F596=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46195705G>A" "" "likely benign" "" "0000809448" "0" "30" "21" "47627336" "47627336" "subst" "3.7715E-5" "01943" "LSS_000028" "g.47627336C>T" "" "" "" "LSS(NM_002340.6):c.1467+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46207422C>T" "" "likely benign" "" "0000809449" "0" "30" "21" "47632969" "47632969" "subst" "4.06613E-6" "01943" "LSS_000029" "g.47632969G>A" "" "" "" "LSS(NM_002340.6):c.1110-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46213055G>A" "" "likely benign" "" "0000856042" "0" "30" "21" "47635630" "47635630" "subst" "4.5119E-5" "01943" "LSS_000032" "g.47635630C>T" "" "" "" "LSS(NM_002340.6):c.861G>A (p.T287=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46215716C>T" "" "likely benign" "" "0000866695" "0" "50" "21" "47614484" "47614484" "subst" "1.62868E-5" "01943" "LSS_000031" "g.47614484C>T" "" "" "" "LSS(NM_002340.6):c.1909G>A (p.E637K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46194570C>T" "" "VUS" "" "0000987869" "3" "70" "21" "47625811" "47625811" "subst" "0" "04679" "LSS_000033" "g.47625811C>A" "" "{PMID:Elaraby 2022:36251212}, {DOI:Elaraby 2022:10.1007/s12031-022-02074-y}" "" "" "ACMG PM2, PP2, PP3" "Germline" "yes" "" "0" "" "" "g.46205897C>A" "" "likely pathogenic (recessive)" "ACMG" "0001005847" "0" "50" "21" "47635095" "47635095" "subst" "4.10293E-6" "02327" "LSS_000005" "g.47635095G>A" "" "" "" "LSS(NM_002340.6):c.1010C>T (p.P337L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46215181G>A" "" "VUS" "" "0001005848" "0" "90" "21" "47648487" "47648487" "subst" "0" "02327" "LSS_000008" "g.47648487T>C" "" "" "" "LSS(NM_002340.6):c.41A>G (p.Y14C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46228573T>C" "" "pathogenic" "" "0001045098" "3" "50" "21" "47642587" "47642587" "subst" "1.63088E-5" "04459" "LSS_000034" "g.47642587G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.46222673G>A" "" "VUS" "" "0001045100" "21" "50" "21" "47633736" "47633736" "subst" "2.04185E-5" "04459" "LSS_000035" "g.47633736A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.46213822A>C" "" "VUS" "" "0001045101" "21" "50" "21" "47642586" "47642586" "subst" "2.85274E-5" "04459" "LSS_000018" "g.47642586C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.46222672C>T" "" "VUS" "" "0001045102" "11" "50" "21" "47635387" "47635387" "subst" "0" "04459" "LSS_000037" "g.47635387G>A" "" "" "" "893-175(IVS8)G>A" "" "Germline" "" "" "0" "" "" "g.46215473C>A" "c.893-175(IVS8)G>A" "VUS" "" "0001045103" "11" "70" "21" "47627474" "47627474" "dup" "0" "04459" "LSS_000036" "g.47627474dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.46207560dup" "" "likely pathogenic (recessive)" "" "0001045104" "21" "50" "21" "47633707" "47633707" "subst" "8.96547E-5" "04459" "LSS_000030" "g.47633707C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.46213793C>T" "" "likely pathogenic (recessive)" "" "0001045105" "11" "50" "21" "47625826" "47625826" "subst" "0" "04459" "LSS_000038" "g.47625826C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.46205912C>G" "" "likely pathogenic (recessive)" "" "0001057050" "0" "50" "21" "47626586" "47626586" "subst" "0.00045401" "01804" "LSS_000039" "g.47626586C>T" "" "" "" "LSS(NM_002340.6):c.1564G>A (p.(Gly522Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001057051" "0" "30" "21" "47628161" "47628161" "subst" "6.6761E-6" "01804" "LSS_000040" "g.47628161A>G" "" "" "" "LSS(NM_002340.6):c.1317+4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001058072" "1" "70" "21" "47633736" "47633736" "subst" "2.04185E-5" "00006" "LSS_000035" "g.47633736A>C" "" "{PMID:Guo 2025:40449652}" "" "" "" "Germline" "" "" "0" "" "" "g.46213822A>C" "" "likely pathogenic (recessive)" "" "0001058189" "2" "70" "21" "47626619" "47626619" "dup" "0" "00006" "LSS_000042" "g.47626619dup" "" "{PMID:Guo 2025:40449652}" "" "1531_1532insT" "" "Germline" "" "" "0" "" "" "g.46206705dup" "" "likely pathogenic (recessive)" "" "0001058240" "1" "50" "21" "47648533" "47648533" "subst" "0" "00006" "LSS_000046" "g.47648533A>G" "" "{PMID:Wang 2024:38184101}" "" "" "ACMG PM2_sup, PP3" "Germline" "" "" "0" "" "" "g.46228619A>G" "" "VUS" "ACMG" "0001058241" "1" "70" "21" "47635213" "47635213" "subst" "0" "00006" "LSS_000045" "g.47635213C>T" "" "{PMID:Wang 2024:38184101}" "" "" "ACMG PVS1_strong, PM2_sup, PP4" "Germline" "" "" "0" "" "" "g.46215299C>T" "" "likely pathogenic (recessive)" "ACMG" "0001058242" "1" "50" "21" "47635195" "47635195" "subst" "0" "00006" "LSS_000044" "g.47635195C>T" "" "{PMID:Wang 2024:38184101}" "" "" "ACMG PM2_sup, PM3, PP4" "Germline" "" "" "0" "" "" "g.46215281C>T" "" "VUS" "ACMG" "0001058243" "1" "50" "21" "47635116" "47635116" "subst" "0" "00006" "LSS_000043" "g.47635116G>A" "" "{PMID:Wang 2024:38184101}" "" "" "ACMG PM2_sup, PM3, PP4" "Germline" "" "" "0" "" "" "g.46215202G>A" "" "VUS" "ACMG" "0001058244" "1" "90" "21" "47633736" "47633736" "subst" "2.04185E-5" "00006" "LSS_000035" "g.47633736A>C" "" "{PMID:Wang 2024:38184101}" "" "" "ACMG PM2_sup, PM3_vs, PP1_sup, PP3, PP4" "Germline" "" "" "0" "" "" "g.46213822A>C" "" "pathogenic (recessive)" "ACMG" "0001058282" "2" "50" "21" "47642586" "47642586" "subst" "2.85274E-5" "00006" "LSS_000018" "g.47642586C>T" "" "{PMID:Wang 2024:38184101}" "" "" "ACMG PM2_sup" "Germline" "" "" "0" "" "" "g.46222672C>T" "" "VUS" "ACMG" "0001058283" "2" "90" "21" "47633736" "47633736" "subst" "2.04185E-5" "00006" "LSS_000035" "g.47633736A>C" "" "{PMID:Wang 2024:38184101}" "" "" "ACMG PM2_sup, PM3_vs, PP1_sup, PP3, PP4" "Germline" "" "" "0" "" "" "g.46213822A>C" "" "pathogenic (recessive)" "ACMG" "0001058284" "2" "90" "21" "47633736" "47633736" "subst" "2.04185E-5" "00006" "LSS_000035" "g.47633736A>C" "" "{PMID:Wang 2024:38184101}" "" "" "ACMG PM2_sup, PM3_vs, PP1_sup, PP3, PP4" "Germline" "" "" "0" "" "" "g.46213822A>C" "" "pathogenic (recessive)" "ACMG" "0001058285" "2" "90" "21" "47633736" "47633736" "subst" "2.04185E-5" "00006" "LSS_000035" "g.47633736A>C" "" "{PMID:Wang 2024:38184101}" "" "" "ACMG PM2_sup, PM3_vs, PP1_sup, PP3, PP4" "Germline" "" "" "0" "" "" "g.46213822A>C" "" "pathogenic (recessive)" "ACMG" "0001058286" "2" "50" "21" "47615632" "47615632" "subst" "8.13438E-6" "00006" "LSS_000041" "g.47615632C>T" "" "{PMID:Wang 2024:38184101}" "" "" "ACMG PM2_sup, PM3, PP4" "Germline" "" "" "0" "" "" "g.46195718C>T" "" "VUS" "ACMG" ## 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 LSS ## Count = 56 "{{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}}" "0000291233" "00025991" "50" "1010" "0" "1010" "0" "c.1010C>T" "r.(?)" "p.(Pro337Leu)" "" "0000291234" "00025991" "10" "1380" "0" "1380" "0" "c.1380C>T" "r.(?)" "p.(Ala460=)" "" "0000291236" "00025991" "50" "1942" "0" "1942" "0" "c.1942C>T" "r.(?)" "p.(Gln648Ter)" "" "0000291237" "00025991" "50" "1943" "0" "1943" "0" "c.1943A>T" "r.(?)" "p.(Gln648Leu)" "" "0000291238" "00025991" "50" "551" "-5" "551" "-5" "c.551-5C>G" "r.spl?" "p.?" "" "0000291239" "00025991" "50" "41" "0" "41" "0" "c.41A>G" "r.(?)" "p.(Tyr14Cys)" "" "0000291240" "00025991" "50" "49" "0" "49" "0" "c.49G>A" "r.(?)" "p.(Glu17Lys)" "" "0000328763" "00025991" "50" "1943" "0" "1943" "0" "c.1943A>T" "r.(?)" "p.(Gln648Leu)" "" "0000328764" "00025991" "50" "1942" "0" "1942" "0" "c.1942C>T" "r.(?)" "p.(Gln648Ter)" "" "0000458901" "00025991" "90" "743" "0" "743" "0" "c.743T>C" "r.(?)" "p.(Leu248Pro)" "" "0000458902" "00025991" "90" "1172" "0" "1172" "0" "c.1172T>C" "r.(?)" "p.(Phe391Ser)" "" "0000458903" "00025991" "90" "423" "0" "423" "0" "c.423G>A" "r.(?)" "p.(Trp141*)" "" "0000458904" "00025991" "90" "304" "0" "304" "0" "c.304C>G" "r.(?)" "p.(Leu102Val)" "" "0000458905" "00025991" "90" "743" "0" "743" "0" "c.743T>C" "r.(?)" "p.(Leu248Pro)" "" "0000458906" "00025991" "90" "625" "0" "625" "0" "c.625A>T" "r.(?)" "p.(Asn209Tyr)" "" "0000571081" "00025991" "10" "1988" "8" "1988" "8" "c.1988+8C>T" "r.(=)" "p.(=)" "" "0000571082" "00025991" "30" "1455" "0" "1455" "0" "c.1455T>C" "r.(?)" "p.(Asp485=)" "" "0000571083" "00025991" "70" "1417" "0" "1417" "0" "c.1417dup" "r.(?)" "p.(His473ProfsTer32)" "" "0000571084" "00025991" "10" "893" "0" "893" "0" "c.893C>T" "r.(?)" "p.(Ala298Val)" "" "0000571085" "00025991" "50" "386" "0" "386" "0" "c.386G>A" "r.(?)" "p.(Arg129Gln)" "" "0000618428" "00025991" "50" "1097" "0" "1097" "0" "c.1097C>T" "r.(?)" "p.(Pro366Leu)" "" "0000624243" "00025991" "50" "1919" "0" "1919" "0" "c.1919G>A" "r.(?)" "p.(Arg640His)" "" "0000658860" "00025991" "30" "1356" "0" "1356" "0" "c.1356C>T" "r.(?)" "p.(Ile452=)" "" "0000681761" "00025991" "30" "1228" "0" "1228" "0" "c.1228T>C" "r.(?)" "p.(Cys410Arg)" "" "0000693084" "00025991" "50" "529" "0" "529" "0" "c.529C>T" "r.(?)" "p.(Arg177Trp)" "" "0000728000" "00025991" "50" "346" "0" "346" "0" "c.346C>T" "r.(?)" "p.(Arg116Cys)" "" "0000728001" "00025991" "50" "110" "0" "110" "0" "c.110C>G" "r.(?)" "p.(Thr37Ser)" "" "0000809447" "00025991" "30" "1788" "0" "1788" "0" "c.1788C>T" "r.(?)" "p.(Phe596=)" "" "0000809448" "00025991" "30" "1467" "6" "1467" "6" "c.1467+6G>A" "r.(=)" "p.(=)" "" "0000809449" "00025991" "30" "1110" "-3" "1110" "-3" "c.1110-3C>T" "r.spl?" "p.?" "" "0000856042" "00025991" "30" "861" "0" "861" "0" "c.861G>A" "r.(?)" "p.(Thr287=)" "" "0000866695" "00025991" "50" "1909" "0" "1909" "0" "c.1909G>A" "r.(?)" "p.(Glu637Lys)" "" "0000987869" "00025991" "70" "1609" "0" "1609" "0" "c.1609G>T" "r.(?)" "p.(Val537Leu)" "" "0001005847" "00025991" "50" "1010" "0" "1010" "0" "c.1010C>T" "r.(?)" "p.(Pro337Leu)" "" "0001005848" "00025991" "90" "41" "0" "41" "0" "c.41A>G" "r.(?)" "p.(Tyr14Cys)" "" "0001045098" "00025991" "50" "385" "0" "385" "0" "c.385C>T" "r.(?)" "p.(Arg129Trp)" "" "0001045100" "00025991" "50" "1025" "0" "1025" "0" "c.1025T>G" "r.(?)" "p.(Ile342Ser)" "" "0001045101" "00025991" "50" "386" "0" "386" "0" "c.386G>A" "r.(?)" "p.(Arg129Gln)" "" "0001045102" "00025991" "50" "893" "-175" "893" "-175" "c.893-175C>T" "r.spl?" "p.(?)" "" "0001045103" "00025991" "70" "1335" "0" "1335" "0" "c.1335dup" "r.(?)" "p.(Thr446TyrfsTer10)" "" "0001045104" "00025991" "50" "1054" "0" "1054" "0" "c.1054G>A" "r.(?)" "p.(Gly352Arg)" "" "0001045105" "00025991" "50" "1594" "0" "1594" "0" "c.1594G>C" "r.(?)" "p.(Glu532Gln)" "" "0001057050" "00025991" "50" "1564" "0" "1564" "0" "c.1564G>A" "r.(?)" "p.(Gly522Arg)" "" "0001057051" "00025991" "30" "1317" "4" "1317" "4" "c.1317+4T>C" "r.spl?" "p.?" "" "0001058072" "00025991" "70" "1025" "0" "1025" "0" "c.1025T>G" "r.(?)" "p.(Ile342Ser)" "" "0001058189" "00025991" "70" "1532" "0" "1532" "0" "c.1532dup" "r.(?)" "p.(Leu511PhefsTer17)" "" "0001058240" "00025991" "50" "15" "-20" "15" "-20" "c.15-20T>C" "r.spl" "p.?" "" "0001058241" "00025991" "70" "893" "-1" "893" "-1" "c.893-1G>A" "r.spl" "p.?" "" "0001058242" "00025991" "50" "910" "0" "910" "0" "c.910G>A" "r.(?)" "p.(Glu304Lys)" "" "0001058243" "00025991" "50" "989" "0" "989" "0" "c.989C>T" "r.(?)" "p.(Thr330Ile)" "" "0001058244" "00025991" "90" "1025" "0" "1025" "0" "c.1025T>G" "r.(?)" "p.(Ile342Ser)" "" "0001058282" "00025991" "50" "386" "0" "386" "0" "c.386G>A" "r.(?)" "p.(Arg129Gln)" "" "0001058283" "00025991" "90" "1025" "0" "1025" "0" "c.1025T>G" "r.(?)" "p.(Ile342Ser)" "" "0001058284" "00025991" "90" "1025" "0" "1025" "0" "c.1025T>G" "r.(?)" "p.(Ile342Ser)" "" "0001058285" "00025991" "90" "1025" "0" "1025" "0" "c.1025T>G" "r.(?)" "p.(Ile342Ser)" "" "0001058286" "00025991" "50" "1775" "0" "1775" "0" "c.1775G>A" "r.(?)" "p.(Gly592Asp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 26 "{{screeningid}}" "{{variantid}}" "0000226564" "0000458901" "0000226564" "0000458904" "0000226565" "0000458902" "0000226566" "0000458903" "0000226566" "0000458906" "0000226567" "0000458905" "0000453290" "0000987869" "0000467287" "0001045098" "0000467288" "0001045100" "0000467288" "0001045101" "0000467289" "0001045102" "0000467289" "0001045103" "0000467290" "0001045104" "0000467290" "0001045105" "0000469991" "0001058072" "0000469991" "0001058189" "0000470153" "0001058240" "0000470153" "0001058282" "0000470154" "0001058241" "0000470154" "0001058283" "0000470155" "0001058242" "0000470155" "0001058284" "0000470156" "0001058243" "0000470156" "0001058285" "0000470157" "0001058244" "0000470157" "0001058286"