### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC52A3) # 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}}" "SLC52A3" "solute carrier family 52 (riboflavin transporter), member 3" "20" "p13" "unknown" "LRG_1394" "UD_144465396365" "" "http://www.LOVD.nl/SLC52A3" "" "1" "16187" "113278" "613350" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/SLC52A3_codingDNA.html" "1" "" "" "-1" "" "-1" "00006" "2015-10-12 00:00:00" "00006" "2022-12-16 19:21:44" "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}}" "00024064" "SLC52A3" "solute carrier family 52 (riboflavin transporter), member 3" "002" "NM_033409.3" "" "NP_212134.3" "" "" "" "-339" "2356" "1410" "749228" "740724" "00006" "2015-10-12 14:48:12" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01684" "-" "bulbar palsy of childhood, progressive" "AR" "211500" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01685" "BVVLS1" "Brown-Vialetto-Van Laere syndrome, type 1 (BVVLS1)" "AR" "211530" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05083" "BVVLS" "Brown-Vialetto-Van Laere syndrome (BVVLS)" "" "" "" "" "" "00006" "2015-10-12 14:53:07" "00006" "2021-12-10 21:51:32" "05618" "NMD" "neuromuscular disorder (NMD)" "" "" "" "" "" "00006" "2019-07-02 19:46:12" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SLC52A3" "01685" "SLC52A3" "05083" ## Individuals ## Do not remove or alter this header ## ## Count = 22 "{{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}}" "00080886" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00204615" "" "" "" "1" "" "00000" "{PMID:Green 2010:20206331}" "" "M" "" "" "" "0" "" "" "Europe" "Fam7-C9" "00204616" "" "" "" "1" "" "00000" "{PMID:Green 2010:20206331}" "" "F" "" "" "" "0" "" "" "Europe" "Fam2-C3" "00204617" "" "" "" "2" "" "00000" "{PMID:Green 2010:20206331}" "2-generation family, 2 affected, unaffected heterozygous carrier parents" "F" "" "Pakistan" "" "0" "" "" "" "Fam4-C5" "00204618" "" "" "00204617" "1" "" "00000" "{PMID:Green 2010:20206331}" "pat Fam4-C6" "F" "" "Pakistan" "" "0" "" "" "" "Fam4-C6" "00204619" "" "" "" "2" "" "00000" "{PMID:Green 2010:20206331}, {PMID:Johnson 2010:20206331}" "2-generation family, 2 affected sibs (Johnson)" "M" "" "United States" "" "0" "" "" "Europe;Asia" "Fam3-C4;Fam2008-410" "00204620" "" "" "" "1" "" "00000" "{PMID:Green 2010:20206331}" "" "F" "" "Pakistan" "" "0" "" "" "" "Fam5-C7" "00204621" "" "" "" "2" "" "00000" "{PMID:Green 2010:20206331}" "2-generation family, 2 affected" "M" "" "" "" "0" "" "" "Arab" "Fam1-C1" "00204622" "" "" "00204621" "1" "" "00000" "{PMID:Green 2010:20206331}" "PatC2" "M" "" "" "" "0" "" "" "Arabic" "Fam1-C2" "00204625" "" "" "" "1" "" "00000" "{PMID:Green 2010:20206331}" "" "F" "" "" "" "0" "" "" "Europe" "Fam6-C8" "00207500" "" "" "" "2" "" "02551" "{PMID:Stalke 2019:30723317}" "family, 2 affected (sister/brother)" "F" "yes" "Germany" ">10y" "0" "" "" "" "Pat11" "00207521" "" "" "00207500" "1" "" "02551" "{PMID:Stalke 2019:30723317}" "brother" "M" "yes" "Germany" "" "0" "" "" "" "brother" "00292974" "" "" "" "185" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304870" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00386515" "" "" "" "1" "" "00006" "{PMID:Johnson 2012:22740598}" "" "" "" "" "" "0" "" "" "" "patient" "00386516" "" "" "" "1" "" "00006" "{PMID:Johnson 2012:22740598}" "" "" "" "" "" "0" "" "" "" "patient" "00386535" "" "" "" "1" "" "00006" "{PMID:Ciccolella 2013:23243084}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Italy" "" "0" "" "" "" "patient" "00386536" "" "" "" "1" "" "00006" "{PMID:Johnson 2010:20206331}" "4-generation family, 3 affected (3F), unaffected heterozygous carrier parents/relatives" "F" "yes" "Turkey" "" "0" "" "" "" "FamDZ" "00386537" "" "" "" "1" "" "00006" "{PMID:Bosch 2011:21110228}" "2-generation family, 2 affected sibs, unaffected heterozygous carrier parents" "" "" "Netherlands" "" "0" "" "" "" "family" "00386538" "" "" "" "1" "" "00006" "{PMID:Bosch 2011:21110228}" "" "" "" "Netherlands" "" "0" "" "" "" "patient" "00400076" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "191308" "00442697" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "M" "" "" "" "0" "" "" "" "Pat69" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 22 "{{individualid}}" "{{diseaseid}}" "00080886" "01684" "00204615" "01685" "00204616" "01685" "00204617" "01685" "00204618" "01685" "00204619" "01685" "00204620" "01685" "00204621" "01685" "00204622" "01685" "00204625" "01685" "00207500" "01685" "00207521" "01685" "00292974" "00198" "00304870" "00198" "00386515" "05083" "00386516" "05083" "00386535" "00198" "00386536" "05083" "00386537" "00198" "00386538" "00198" "00400076" "01685" "00442697" "05618" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01684, 01685, 05083, 05618 ## Count = 16 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000060455" "01684" "00080886" "01758" "Familial, autosomal recessive" "" "Fazio-Londe disease (OMIM:211500)" "" "" "" "" "" "" "" "" "" "" "" "0000152877" "01685" "00204615" "00000" "-" "" "Progressive weakness, muscle wasting and truncal ataxia. Initial presentation: Multiple peripheral neuropathy" "" "" "" "" "" "" "" "" "" "" "" "0000152878" "01685" "00204616" "00000" "-" "" "Anterior horn neuropathy; Intact cognitive development. Initial presentation: Progressive bulbar palsy" "" "" "" "" "" "" "" "" "" "" "" "0000152879" "01685" "00204617" "00000" "-" "" "Progressive muscle weakness. Initial presntation: VII nerve palsy, deafness" "" "" "" "" "" "" "" "" "" "" "" "0000152880" "01685" "00204618" "00000" "-" "" "Poor balance, proximal muscle group weakness. Initial presentation: Deafness, Tongue wasting and fasciculations" "" "" "" "" "" "" "" "" "" "" "" "0000152881" "01685" "00204619" "00000" "-" "" "Multiple cranial nerve involvement. Initial presentation: Breathing problems" "" "" "" "" "" "" "" "" "" "" "" "0000152882" "01685" "00204620" "00000" "-" "" "Progressive muscle weakness and wasting, external ophthalmoplegia. Initial presentation: Tongue fasciculations, facial palsy" "" "" "" "" "" "" "" "" "" "" "" "0000152883" "01685" "00204621" "00000" "-" "" "Hypotonia, cerebellar signs, brisk reflexes in lower limbs, persistent ankle clonus, stridor, EMG: bulbar palsy, anterior horn involvement; phrenic nerve denervation, auditory neuropathy. Initial presentation: Sub-acute encephalopathy" "" "" "" "" "" "" "" "" "" "" "" "0000152884" "01685" "00204622" "00000" "-" "" "Hypotonia, bulbar palsy, respiratory difficulties. Initial Presentation: Hypotonia, bulbar palsy" "" "" "" "" "" "" "" "" "" "" "" "0000152885" "01685" "00204625" "00000" "-" "" "General weakness, flaccid. Initial presentation: Breathing difficulties, weakness" "" "" "" "" "" "" "" "" "" "" "" "0000155279" "01685" "00207500" "02551" "Familial, autosomal recessive" "10y" "visual impairment (HP:0000505); progressive hearing impairment (HP:0000365); no abnormality of the liver (-HP:0001392); no hepatic Wilson disease symptoms, liver biopsy normal; visits regular school" "" "05y" "" "" "" "" "" "" "BVVLS" "" "" "0000155299" "01685" "00207521" "02551" "Familial, autosomal recessive" "" "Visual impairment (HP:0000505)\r\nHearing impairment (HP:0000365)" "" "" "" "" "" "" "" "" "BVVLS" "" "" "0000280338" "00198" "00386535" "00006" "Familial, autosomal recessive" "" "see paper; ...; 2y-progressive dysphonia, exercise intolerance, dyspnoea, cyanosis" "" "" "" "" "" "" "" "" "BVVLS2" "progressive dysphonia, exercise intolerance, dyspnoea, cyanosis" "" "0000280339" "00198" "00386537" "00006" "Familial, autosomal recessive" "" "see paper; ..., infancy progressive muscle weakness, paralysis diaphragm" "" "" "" "" "" "" "" "" "" "infancy progressive muscle weakness, paralysis diaphragm" "" "0000293117" "01685" "00400076" "01164" "Familial, autosomal recessive" "50y" "Abnormal nervous system physiology, Visual impairment, Abnormal cranial nerve morphology, Cranial nerve paralysis, Abnormality of eye movement, Dysphagia, Hearing impairment" "" "" "" "" "" "" "" "" "" "" "" "0000332044" "05618" "00442697" "00006" "Familial, autosomal recessive" "31y" "Neonatal hypotonia with apnoeas and need of tracheostomy, atrophy of shoulder, upper arm and lower leg muscles, facies myopathica with dysphonia, ptosis and kyphoscoliosis, sensory polyneuropathy; muscle biopsy: type 1 fiber size predominance with presence of internal nuclei and some core-like structures, COX/SDH negative fibers" "1d" "" "" "" "" "" "" "" "" "Psychomotor retardation, deafness, hypotonia, polyneuropathy, scoliosis, respiratory symptoms" "" ## Screenings ## Do not remove or alter this header ## ## Count = 22 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000080998" "00080886" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000205644" "00204615" "1" "00000" "00115" "2010-07-22 11:21:10" "" "" "SEQ" "DNA" "" "" "0000205645" "00204616" "1" "00000" "00115" "2010-07-22 11:21:10" "" "" "SEQ" "DNA" "" "" "0000205646" "00204617" "1" "00000" "00115" "2010-07-22 11:21:10" "" "" "SEQ" "DNA" "" "" "0000205647" "00204618" "1" "00000" "00115" "2010-07-22 11:21:10" "" "" "SEQ" "DNA" "" "" "0000205648" "00204619" "1" "00000" "00115" "2010-07-22 11:21:10" "" "" "SEQ" "DNA" "" "" "0000205649" "00204620" "1" "00000" "00115" "2010-07-22 11:21:10" "" "" "SEQ" "DNA" "" "" "0000205650" "00204621" "1" "00000" "00115" "2010-07-22 11:21:10" "" "" "SEQ" "DNA" "" "" "0000205651" "00204622" "1" "00000" "00115" "2010-07-22 11:21:10" "" "" "SEQ" "DNA" "" "" "0000205654" "00204625" "1" "00000" "00115" "2010-07-22 11:21:10" "" "" "SEQ" "DNA" "" "" "0000208538" "00207500" "1" "02551" "02551" "2018-11-23 17:01:13" "00006" "2022-12-16 19:35:51" "MLPA;RT-PCR;SEQ;SEQ-NG-I" "DNA;RNA" "peripheral blood" "WES" "0000208560" "00207521" "1" "02551" "02551" "2018-11-23 18:17:22" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "" "0000294142" "00292974" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305999" "00304870" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000387743" "00386515" "1" "00006" "00006" "2021-10-24 13:26:06" "" "" "SEQ" "DNA" "" "" "0000387744" "00386516" "1" "00006" "00006" "2021-10-24 13:27:53" "" "" "SEQ" "DNA" "" "" "0000387763" "00386535" "1" "00006" "00006" "2021-10-24 15:51:33" "00006" "2021-10-24 16:03:15" "SEQ" "DNA" "" "" "0000387764" "00386536" "1" "00006" "00006" "2021-10-24 16:39:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000387765" "00386537" "1" "00006" "00006" "2021-10-24 16:53:28" "" "" "SEQ" "DNA" "" "" "0000387766" "00386538" "1" "00006" "00006" "2021-10-24 16:55:21" "" "" "SEQ" "DNA" "" "" "0000401319" "00400076" "1" "01164" "01164" "2022-01-24 13:42:37" "" "" "SEQ-NG-I" "DNA" "" "" "0000444181" "00442697" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 20 "{{screeningid}}" "{{geneid}}" "0000080998" "SLC52A3" "0000205644" "SLC52A3" "0000205645" "SLC52A3" "0000205646" "SLC52A3" "0000205647" "SLC52A3" "0000205648" "SLC52A3" "0000205649" "SLC52A3" "0000205650" "SLC52A3" "0000205651" "SLC52A3" "0000205654" "SLC52A3" "0000208538" "ATP7B" "0000387743" "SLC52A3" "0000387744" "SLC52A3" "0000387763" "SLC52A1" "0000387763" "SLC52A2" "0000387763" "SLC52A3" "0000387764" "SLC52A3" "0000387765" "SLC52A3" "0000387766" "SLC52A3" "0000401319" "SLC52A3" ## 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 = 86 "{{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}}" "0000130084" "3" "70" "20" "746348" "746348" "subst" "0" "01758" "SLC52A3_000001" "g.746348C>T" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.765704C>T" "" "likely pathogenic" "ACMG" "0000248727" "0" "10" "20" "741847" "741847" "subst" "0.681199" "02325" "SLC52A3_000011" "g.741847A>G" "" "" "" "SLC52A3(NM_033409.4):c.1233T>C (p.S411=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.761203A>G" "" "benign" "" "0000298317" "0" "10" "20" "746098" "746098" "subst" "0.322679" "02325" "SLC52A3_000017" "g.746098G>A" "" "" "" "SLC52A3(NM_033409.4):c.321C>T (p.A107=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.765454G>A" "" "benign" "" "0000298319" "0" "10" "20" "744450" "744450" "subst" "0.438339" "02325" "SLC52A3_000013" "g.744450G>A" "" "" "" "SLC52A3(NM_033409.4):c.765C>T (p.L255=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.763806G>A" "" "benign" "" "0000302274" "0" "30" "20" "744656" "744656" "del" "0" "02326" "SLC52A3_000014" "g.744656del" "" "" "" "SLC52A3(NM_033409.4):c.568-8delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.764012del" "" "likely benign" "" "0000435047" "2" "50" "20" "741842" "741842" "subst" "0" "00000" "SLC52A3_000003" "g.741842A>G" "" "{PMID: Green 2010:20206331}" "" "c.1237T>C, p.V413A" "" "Germline" "" "" "0" "" "" "g.761198A>G" "" "VUS" "" "0000435048" "1" "90" "20" "746313" "746313" "subst" "1.6509E-5" "00000" "SLC52A3_000002" "g.746313C>T" "" "{PMID: Green 2010:20206331}" "" "p.E36K" "" "Unknown" "" "" "0" "" "" "g.765669C>T" "" "pathogenic (recessive)" "" "0000435049" "3" "90" "20" "746208" "746208" "subst" "0" "00000" "SLC52A3_000006" "g.746208C>A" "" "{PMID: Green 2010:20206331}" "" "p.E71X" "" "Germline" "" "" "0" "" "" "g.765564C>A" "" "pathogenic (recessive)" "" "0000435050" "3" "90" "20" "746025" "746025" "subst" "2.03135E-5" "00000" "SLC52A3_000007" "g.746025G>A" "" "{PMID: Green 2010:20206331}" "" "p.R132W" "" "Germline" "yes" "" "0" "" "" "g.765381G>A" "" "pathogenic (recessive)" "" "0000435051" "3" "90" "20" "746025" "746025" "subst" "2.03135E-5" "00000" "SLC52A3_000007" "g.746025G>A" "" "{PMID: Green 2010:20206331}" "" "p.R132W" "" "Germline" "yes" "" "0" "" "" "g.765381G>A" "" "pathogenic (recessive)" "" "0000435052" "21" "90" "20" "744576" "744576" "subst" "2.85796E-5" "00000" "SLC52A3_000008" "g.744576G>C" "" "{PMID:Green 2010:20206331}, {PMID:Johnson 2010:20206331}" "" "" "reported as homozygous by Green" "Germline" "yes" "" "0" "" "" "g.763932G>C" "" "pathogenic (recessive)" "" "0000435053" "3" "90" "20" "744545" "744545" "subst" "0" "00000" "SLC52A3_000009" "g.744545A>G" "" "{PMID: Green 2010:20206331}" "" "p.F224L" "" "Germline" "" "" "0" "" "" "g.763901A>G" "" "pathogenic (recessive)" "" "0000435054" "3" "30" "20" "744167" "744167" "subst" "0.00383525" "00000" "SLC52A3_000010" "g.744167A>T" "" "{PMID: Green 2010:20206331}" "" "p.L350M" "" "Germline" "yes" "" "0" "" "" "g.763523A>T" "" "likely benign" "" "0000435055" "3" "30" "20" "744167" "744167" "subst" "0.00383525" "00000" "SLC52A3_000010" "g.744167A>T" "" "{PMID: Green 2010:20206331}" "" "p.L350M" "" "Germline" "yes" "" "0" "" "" "g.763523A>T" "" "likely benign" "" "0000435056" "3" "90" "20" "741755" "741756" "del" "0" "00000" "SLC52A3_000004" "g.741755_741756del" "" "{PMID: Green 2010:20206331}" "" "c.1325_1326 delTG, p.L442RfsX35" "" "Germline" "yes" "" "0" "" "" "g.761111_761112del" "" "pathogenic (recessive)" "" "0000435057" "3" "90" "20" "741755" "741756" "del" "0" "00000" "SLC52A3_000004" "g.741755_741756del" "" "{PMID: Green 2010:20206331}" "" "c.1325_1326 delTG, p.L442RfsX35" "" "Germline" "yes" "" "0" "" "" "g.761111_761112del" "" "pathogenic (recessive)" "" "0000435060" "3" "90" "20" "741709" "741709" "subst" "0.000372017" "00000" "SLC52A3_000005" "g.741709G>C" "" "{PMID: Green 2010:20206331}" "" "p.F457L" "" "Germline" "" "" "0" "" "" "g.761065G>C" "" "pathogenic (recessive)" "" "0000438424" "3" "90" "20" "741763" "741763" "del" "0" "02551" "SLC52A3_000018" "g.741763del" "" "{PMID:Stalke 2019:30723317}" "" "" "" "Germline" "" "" "0" "" "" "g.761119del" "" "likely pathogenic" "ACMG" "0000438439" "3" "70" "20" "741763" "741763" "del" "0" "02551" "SLC52A3_000018" "g.741763del" "" "{PMID:Stalke 2019:30723317}" "" "" "" "Germline" "" "" "0" "" "" "g.761119del" "" "likely pathogenic (recessive)" "ACMG" "0000570395" "0" "10" "20" "741657" "741657" "del" "0" "02330" "SLC52A3_000019" "g.741657del" "" "" "" "SLC52A3(NM_033409.4):c.*16delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.761013del" "" "benign" "" "0000570396" "0" "10" "20" "741847" "741847" "subst" "0.681199" "02330" "SLC52A3_000011" "g.741847A>G" "" "" "" "SLC52A3(NM_033409.4):c.1233T>C (p.S411=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.761203A>G" "" "benign" "" "0000570401" "0" "10" "20" "744167" "744167" "subst" "0.00383525" "02330" "SLC52A3_000010" "g.744167A>T" "" "" "" "SLC52A3(NM_001370086.1):c.1048T>A (p.L350M), SLC52A3(NM_033409.3):c.1048T>A (p.(Leu350Met)), SLC52A3(NM_033409.4):c.1048T>A (p.L350M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.763523A>T" "" "benign" "" "0000570402" "0" "10" "20" "744168" "744168" "subst" "0.00134884" "02330" "SLC52A3_000024" "g.744168C>T" "" "" "" "SLC52A3(NM_033409.3):c.1047G>A (p.S349=), SLC52A3(NM_033409.4):c.1047G>A (p.S349=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.763524C>T" "" "benign" "" "0000570403" "0" "30" "20" "744168" "744168" "subst" "0.00134884" "01943" "SLC52A3_000024" "g.744168C>T" "" "" "" "SLC52A3(NM_033409.3):c.1047G>A (p.S349=), SLC52A3(NM_033409.4):c.1047G>A (p.S349=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.763524C>T" "" "likely benign" "" "0000570404" "0" "10" "20" "744308" "744308" "subst" "0.103429" "02330" "SLC52A3_000025" "g.744308T>C" "" "" "" "SLC52A3(NM_033409.4):c.907A>G (p.I303V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.763664T>C" "" "benign" "" "0000570405" "0" "10" "20" "744382" "744382" "subst" "0.102033" "02330" "SLC52A3_000026" "g.744382G>A" "" "" "" "SLC52A3(NM_033409.4):c.833C>T (p.T278M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.763738G>A" "" "benign" "" "0000570406" "0" "10" "20" "744415" "744415" "subst" "0.195193" "02330" "SLC52A3_000027" "g.744415G>A" "" "" "" "SLC52A3(NM_033409.4):c.800C>T (p.P267L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.763771G>A" "" "benign" "" "0000570407" "0" "10" "20" "744415" "744415" "subst" "0.195193" "02327" "SLC52A3_000027" "g.744415G>A" "" "" "" "SLC52A3(NM_033409.4):c.800C>T (p.P267L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.763771G>A" "" "benign" "" "0000570408" "0" "10" "20" "744450" "744450" "subst" "0.438339" "02330" "SLC52A3_000013" "g.744450G>A" "" "" "" "SLC52A3(NM_033409.4):c.765C>T (p.L255=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.763806G>A" "" "benign" "" "0000570409" "0" "10" "20" "744450" "744450" "subst" "0.438339" "02327" "SLC52A3_000013" "g.744450G>A" "" "" "" "SLC52A3(NM_033409.4):c.765C>T (p.L255=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.763806G>A" "" "benign" "" "0000570410" "0" "10" "20" "744570" "744570" "subst" "0.0836196" "02330" "SLC52A3_000028" "g.744570G>A" "" "" "" "SLC52A3(NM_033409.4):c.645C>T (p.P215=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.763926G>A" "" "benign" "" "0000570411" "0" "90" "20" "744576" "744576" "subst" "2.85796E-5" "02327" "SLC52A3_000008" "g.744576G>C" "" "" "" "SLC52A3(NM_033409.4):c.639C>G (p.(Tyr213*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.763932G>C" "" "pathogenic" "" "0000570412" "0" "30" "20" "744659" "744660" "ins" "0" "02326" "SLC52A3_000029" "g.744659_744660insG" "" "" "" "SLC52A3(NM_033409.4):c.568-13_568-12insC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.764015_764016insG" "" "likely benign" "" "0000570413" "0" "10" "20" "744665" "744666" "ins" "0" "02330" "SLC52A3_000030" "g.744665_744666insGTCAATCAG" "" "" "" "SLC52A3(NM_033409.4):c.568-16_568-15insATTGACCTG, SLC52A3(NM_033409.4):c.568-19_568-18insCTGATTGAC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.764021_764022insGTCAATCAG" "" "benign" "" "0000570414" "0" "10" "20" "744665" "744666" "ins" "0" "02325" "SLC52A3_000030" "g.744665_744666insGTCAATCAG" "" "" "" "SLC52A3(NM_033409.4):c.568-16_568-15insATTGACCTG, SLC52A3(NM_033409.4):c.568-19_568-18insCTGATTGAC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.764021_764022insGTCAATCAG" "" "benign" "" "0000570415" "0" "10" "20" "745963" "745963" "subst" "0.0952762" "02330" "SLC52A3_000031" "g.745963G>A" "" "" "" "SLC52A3(NM_033409.4):c.456C>T (p.P152=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.765319G>A" "" "benign" "" "0000570416" "0" "30" "20" "746024" "746024" "subst" "0.000138132" "01943" "SLC52A3_000032" "g.746024C>T" "" "" "" "SLC52A3(NM_033409.3):c.395G>A (p.R132Q, p.(Arg132Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.765380C>T" "" "likely benign" "" "0000570417" "0" "10" "20" "746080" "746080" "subst" "0.00108583" "02330" "SLC52A3_000033" "g.746080G>A" "" "" "" "SLC52A3(NM_033409.4):c.339C>T (p.F113=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.765436G>A" "" "benign" "" "0000570418" "0" "10" "20" "746098" "746098" "subst" "0.322679" "02330" "SLC52A3_000017" "g.746098G>A" "" "" "" "SLC52A3(NM_033409.4):c.321C>T (p.A107=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.765454G>A" "" "benign" "" "0000570419" "0" "10" "20" "746197" "746197" "subst" "0.0650662" "02330" "SLC52A3_000034" "g.746197G>C" "" "" "" "SLC52A3(NM_033409.4):c.222C>G (p.I74M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.765553G>C" "" "benign" "" "0000570420" "0" "10" "20" "746425" "746433" "del" "0" "02330" "SLC52A3_000035" "g.746425_746433del" "" "" "" "SLC52A3(NM_033409.4):c.-14_-6delGGGCAGATA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.765781_765789del" "" "benign" "" "0000618308" "0" "50" "20" "742365" "742365" "subst" "4.0862E-5" "02330" "SLC52A3_000037" "g.742365A>G" "" "" "" "SLC52A3(NM_033409.4):c.1177T>C (p.W393R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.761721A>G" "" "VUS" "" "0000618309" "0" "50" "20" "746394" "746394" "subst" "0" "02325" "SLC52A3_000039" "g.746394C>A" "" "" "" "SLC52A3(NM_033409.4):c.25G>T (p.V9F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.765750C>A" "" "VUS" "" "0000618310" "0" "10" "20" "746410" "746410" "subst" "0.00623831" "02330" "SLC52A3_000040" "g.746410G>A" "" "" "" "SLC52A3(NM_033409.4):c.9C>T (p.F3=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.765766G>A" "" "benign" "" "0000624195" "0" "10" "20" "746179" "746179" "subst" "0.00288355" "02330" "SLC52A3_000038" "g.746179G>A" "" "" "" "SLC52A3(NM_033409.4):c.240C>T (p.G80=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.765535G>A" "" "benign" "" "0000650831" "1" "30" "20" "746197" "746197" "subst" "0.0650662" "03575" "SLC52A3_000034" "g.746197G>C" "185/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "185 heterozygous; {DB:CLININrs35655964}" "Germline" "" "rs35655964" "0" "" "" "g.765553G>C" "" "likely benign" "" "0000658809" "0" "10" "20" "744665" "744666" "ins" "0" "02326" "SLC52A3_000030" "g.744665_744666insGTCAATCAG" "" "" "" "SLC52A3(NM_033409.4):c.568-16_568-15insATTGACCTG, SLC52A3(NM_033409.4):c.568-19_568-18insCTGATTGAC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.764021_764022insGTCAATCAG" "" "benign" "" "0000658810" "0" "30" "20" "745858" "745858" "subst" "6.09399E-5" "01943" "SLC52A3_000041" "g.745858G>A" "" "" "" "SLC52A3(NM_033409.3):c.561C>T (p.I187=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.765214G>A" "" "likely benign" "" "0000658811" "0" "30" "20" "746178" "746178" "subst" "0.000969932" "01943" "SLC52A3_000042" "g.746178C>T" "" "" "" "SLC52A3(NM_033409.3):c.241G>A (p.V81M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.765534C>T" "" "likely benign" "" "0000669687" "3" "30" "20" "746197" "746197" "subst" "0.0650662" "03575" "SLC52A3_000034" "g.746197G>C" "4/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 homozygous; {DB:CLININrs35655964}" "Germline" "" "rs35655964" "0" "" "" "g.765553G>C" "" "likely benign" "" "0000681698" "0" "10" "20" "744615" "744615" "subst" "0.0174123" "02330" "SLC52A3_000043" "g.744615G>A" "" "" "" "SLC52A3(NM_033409.4):c.600C>T (p.P200=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000681699" "0" "30" "20" "746371" "746371" "subst" "1.64681E-5" "01943" "SLC52A3_000044" "g.746371G>C" "" "" "" "SLC52A3(NM_001370086.1):c.48C>G (p.S16=), SLC52A3(NM_033409.3):c.48C>G (p.S16=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727863" "0" "30" "20" "741706" "741706" "subst" "0.000124408" "02330" "SLC52A3_000045" "g.741706C>A" "" "" "" "SLC52A3(NM_001370086.1):c.1374G>T (p.S458=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727864" "0" "50" "20" "746208" "746208" "subst" "1.06779E-5" "01943" "SLC52A3_000046" "g.746208C>T" "" "" "" "SLC52A3(NM_033409.3):c.211G>A (p.E71K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000815879" "1" "90" "20" "746259" "746259" "subst" "4.50755E-6" "00006" "SLC52A3_000047" "g.746259C>T" "" "{PMID:Johnson 2012:22740598}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000815880" "2" "90" "20" "746195" "746195" "subst" "5.38097E-6" "00006" "SLC52A3_000048" "g.746195A>G" "" "{PMID:Johnson 2012:22740598}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000815881" "3" "90" "20" "741709" "741709" "subst" "0.000372017" "00006" "SLC52A3_000005" "g.741709G>C" "" "{PMID:Johnson 2012:22740598}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000815914" "0" "50" "20" "744308" "744308" "subst" "0.103429" "00006" "SLC52A3_000025" "g.744308T>C" "" "{PMID:Ciccolella 2013:23243084}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000815915" "11" "90" "20" "746208" "746208" "subst" "1.06779E-5" "00006" "SLC52A3_000046" "g.746208C>T" "" "{PMID:Johnson 2010:20206331}" "" "" "variant not reported by Green" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000815916" "3" "90" "20" "746337" "746337" "subst" "0" "00006" "SLC52A3_000049" "g.746337G>T" "" "{PMID:Johnson 2010:20206331}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000815917" "3" "90" "20" "741884" "741884" "subst" "0" "00006" "SLC52A3_000050" "g.741884T>G" "" "{PMID:Bosch 2011:21110228}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000815918" "1" "90" "20" "746370" "746370" "subst" "0" "00006" "SLC52A3_000051" "g.746370A>G" "" "{PMID:Bosch 2011:21110228}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000815919" "2" "90" "20" "744576" "744576" "subst" "2.85796E-5" "00006" "SLC52A3_000008" "g.744576G>C" "" "{PMID:Bosch 2011:21110228}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000834527" "0" "70" "20" "744473" "744473" "del" "0" "01164" "SLC52A3_000052" "g.744473del" "" "" "" "" "ACMG: PVS1, PM2_SUP" "Germline" "?" "" "0" "" "" "g.763829del" "" "likely pathogenic (recessive)" "ACMG" "0000834528" "0" "50" "20" "741699" "741699" "subst" "0.000366004" "01164" "SLC52A3_000053" "g.741699C>A" "" "PMID: 27777325" "" "" "ACMG: PM2_SUP, PM3_SUP, PP3" "Germline" "?" "rs140360713" "" "" "" "" "VCV000476604.11" "VUS" "ACMG" "0000855943" "0" "30" "20" "744270" "744270" "subst" "0.000231474" "02330" "SLC52A3_000056" "g.744270G>A" "" "" "" "SLC52A3(NM_001370086.1):c.945C>T (p.N315=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866597" "0" "10" "20" "740919" "740919" "subst" "0" "02326" "SLC52A3_000054" "g.740919G>T" "" "" "" "SLC52A3(NM_033409.4):c.*751C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000866598" "0" "10" "20" "741657" "741657" "del" "0" "02326" "SLC52A3_000019" "g.741657del" "" "" "" "SLC52A3(NM_033409.4):c.*16delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000866599" "0" "10" "20" "742237" "742237" "subst" "0" "02326" "SLC52A3_000022" "g.742237G>A" "" "" "" "SLC52A3(NM_033409.4):c.1197+108C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000866600" "0" "30" "20" "744234" "744234" "subst" "0.000186807" "02330" "SLC52A3_000055" "g.744234C>G" "" "" "" "SLC52A3(NM_033409.4):c.981G>C (p.L327=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915436" "0" "10" "20" "744510" "744510" "subst" "0.00269671" "02330" "SLC52A3_000057" "g.744510G>A" "" "" "" "SLC52A3(NM_001370086.1):c.705C>T (p.L235=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000915437" "0" "10" "20" "745898" "745898" "subst" "0.00267606" "02330" "SLC52A3_000058" "g.745898T>C" "" "" "" "SLC52A3(NM_001370086.1):c.521A>G (p.D174G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000915438" "0" "30" "20" "746179" "746179" "subst" "0.00288355" "02326" "SLC52A3_000038" "g.746179G>A" "" "" "" "SLC52A3(NM_033409.4):c.240C>T (p.G80=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915439" "0" "50" "20" "746204" "746204" "subst" "2.14592E-5" "02330" "SLC52A3_000059" "g.746204A>T" "" "" "" "SLC52A3(NM_001370086.1):c.215T>A (p.V72E), SLC52A3(NM_033409.4):c.215T>A (p.(Val72Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927060" "0" "30" "20" "745835" "745835" "subst" "2.03313E-5" "02330" "SLC52A3_000060" "g.745835C>T" "" "" "" "SLC52A3(NM_001370086.1):c.567+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931210" "0" "10" "20" "744167" "744167" "subst" "0.00383525" "02326" "SLC52A3_000010" "g.744167A>T" "" "" "" "SLC52A3(NM_001370086.1):c.1048T>A (p.L350M), SLC52A3(NM_033409.3):c.1048T>A (p.(Leu350Met)), SLC52A3(NM_033409.4):c.1048T>A (p.L350M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000946038" "3" "90" "20" "742414" "742414" "subst" "0" "00006" "SLC52A3_000012" "g.742414G>C" "" "{PMID:Westra 2019:31127727}" "" "" "" "Germline" "" "" "0" "" "" "g.761770G>C" "" "pathogenic (recessive)" "" "0000970264" "0" "30" "20" "746024" "746024" "subst" "0.000138132" "01804" "SLC52A3_000032" "g.746024C>T" "" "" "" "SLC52A3(NM_033409.3):c.395G>A (p.R132Q, p.(Arg132Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983937" "0" "10" "20" "744665" "744666" "ins" "0" "01804" "SLC52A3_000030" "g.744665_744666insGTCAATCAG" "" "" "" "SLC52A3(NM_033409.4):c.568-16_568-15insATTGACCTG, SLC52A3(NM_033409.4):c.568-19_568-18insCTGATTGAC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000983938" "0" "50" "20" "746204" "746204" "subst" "2.14592E-5" "01804" "SLC52A3_000059" "g.746204A>T" "" "" "" "SLC52A3(NM_001370086.1):c.215T>A (p.V72E), SLC52A3(NM_033409.4):c.215T>A (p.(Val72Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005624" "0" "30" "20" "744167" "744167" "subst" "0.00383525" "01804" "SLC52A3_000010" "g.744167A>T" "" "" "" "SLC52A3(NM_001370086.1):c.1048T>A (p.L350M), SLC52A3(NM_033409.3):c.1048T>A (p.(Leu350Met)), SLC52A3(NM_033409.4):c.1048T>A (p.L350M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005625" "0" "50" "20" "746357" "746357" "subst" "0.000160308" "01804" "SLC52A3_000061" "g.746357T>C" "" "" "" "SLC52A3(NM_033409.3):c.62A>G (p.(Asn21Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015882" "0" "30" "20" "746371" "746371" "subst" "1.64681E-5" "02330" "SLC52A3_000044" "g.746371G>C" "" "" "" "SLC52A3(NM_001370086.1):c.48C>G (p.S16=), SLC52A3(NM_033409.3):c.48C>G (p.S16=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001030012" "0" "50" "20" "741709" "741709" "subst" "0.000372017" "03779" "SLC52A3_000005" "g.741709G>C" "" "" "" "" "" "Unknown" "" "rs145431028" "0" "" "" "" "" "VUS" "" "0001043537" "0" "50" "20" "741707" "741707" "subst" "0" "01804" "SLC52A3_000062" "g.741707G>A" "" "" "" "SLC52A3(NM_033409.4):c.1373C>T (p.(Ser458Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043538" "0" "90" "20" "744576" "744576" "subst" "2.85796E-5" "01804" "SLC52A3_000008" "g.744576G>C" "" "" "" "SLC52A3(NM_033409.4):c.639C>G (p.(Tyr213*))" "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 SLC52A3 ## Count = 86 "{{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}}" "0000130084" "00024064" "70" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Trp24*)" "" "0000248727" "00024064" "10" "1233" "0" "1233" "0" "c.1233T>C" "r.(?)" "p.(Ser411=)" "" "0000298317" "00024064" "10" "321" "0" "321" "0" "c.321C>T" "r.(?)" "p.(Ala107=)" "" "0000298319" "00024064" "10" "765" "0" "765" "0" "c.765C>T" "r.(?)" "p.(Leu255=)" "" "0000302274" "00024064" "30" "568" "-8" "568" "-8" "c.568-8del" "r.(=)" "p.(=)" "" "0000435047" "00024064" "50" "1238" "0" "1238" "0" "c.1238T>C" "r.(?)" "p.(Val413Ala)" "?" "0000435048" "00024064" "90" "106" "0" "106" "0" "c.106G>A" "r.(?)" "p.(Glu36Lys)" "?" "0000435049" "00024064" "90" "211" "0" "211" "0" "c.211G>T" "r.(?)" "p.(Glu71*)" "?" "0000435050" "00024064" "90" "394" "0" "394" "0" "c.394C>T" "r.(?)" "p.(Arg132Trp)" "?" "0000435051" "00024064" "90" "394" "0" "394" "0" "c.394C>T" "r.(?)" "p.(Arg132Trp)" "?" "0000435052" "00024064" "90" "639" "0" "639" "0" "c.639C>G" "r.(?)" "p.(Tyr213*)" "?" "0000435053" "00024064" "90" "670" "0" "670" "0" "c.670T>C" "r.(?)" "p.(Phe224Leu)" "?" "0000435054" "00024064" "30" "1048" "0" "1048" "0" "c.1048T>A" "r.(?)" "p.(Leu350Met)" "?" "0000435055" "00024064" "30" "1048" "0" "1048" "0" "c.1048T>A" "r.(?)" "p.(Leu350Met)" "?" "0000435056" "00024064" "90" "1325" "0" "1326" "0" "c.1325_1326del" "r.(?)" "p.(Leu442ArgfsTer64)" "?" "0000435057" "00024064" "90" "1325" "0" "1326" "0" "c.1325_1326del" "r.(?)" "p.(Leu442ArgfsTer64)" "?" "0000435060" "00024064" "90" "1371" "0" "1371" "0" "c.1371C>G" "r.(?)" "p.(Phe457Leu)" "?" "0000438424" "00024064" "90" "1317" "0" "1317" "0" "c.1317del" "r.(?)" "p.(Ser440Argfs*65)" "" "0000438439" "00024064" "70" "1317" "0" "1317" "0" "c.1317del" "r.(?)" "p.(Ser440Argfs*65)" "" "0000570395" "00024064" "10" "1426" "0" "1426" "0" "c.*16del" "r.(?)" "p.(=)" "" "0000570396" "00024064" "10" "1233" "0" "1233" "0" "c.1233T>C" "r.(?)" "p.(Ser411=)" "" "0000570401" "00024064" "10" "1048" "0" "1048" "0" "c.1048T>A" "r.(?)" "p.(Leu350Met)" "" "0000570402" "00024064" "10" "1047" "0" "1047" "0" "c.1047G>A" "r.(?)" "p.(Ser349=)" "" "0000570403" "00024064" "30" "1047" "0" "1047" "0" "c.1047G>A" "r.(?)" "p.(Ser349=)" "" "0000570404" "00024064" "10" "907" "0" "907" "0" "c.907A>G" "r.(?)" "p.(Ile303Val)" "" "0000570405" "00024064" "10" "833" "0" "833" "0" "c.833C>T" "r.(?)" "p.(Thr278Met)" "" "0000570406" "00024064" "10" "800" "0" "800" "0" "c.800C>T" "r.(?)" "p.(Pro267Leu)" "" "0000570407" "00024064" "10" "800" "0" "800" "0" "c.800C>T" "r.(?)" "p.(Pro267Leu)" "" "0000570408" "00024064" "10" "765" "0" "765" "0" "c.765C>T" "r.(?)" "p.(Leu255=)" "" "0000570409" "00024064" "10" "765" "0" "765" "0" "c.765C>T" "r.(?)" "p.(Leu255=)" "" "0000570410" "00024064" "10" "645" "0" "645" "0" "c.645C>T" "r.(?)" "p.(Pro215=)" "" "0000570411" "00024064" "90" "639" "0" "639" "0" "c.639C>G" "r.(?)" "p.(Tyr213Ter)" "" "0000570412" "00024064" "30" "568" "-13" "568" "-12" "c.568-13_568-12insC" "r.(=)" "p.(=)" "" "0000570413" "00024064" "10" "568" "-16" "568" "-15" "c.568-16_568-15insATTGACCTG" "r.(=)" "p.(=)" "" "0000570414" "00024064" "10" "568" "-16" "568" "-15" "c.568-16_568-15insATTGACCTG" "r.(=)" "p.(=)" "" "0000570415" "00024064" "10" "456" "0" "456" "0" "c.456C>T" "r.(?)" "p.(Pro152=)" "" "0000570416" "00024064" "30" "395" "0" "395" "0" "c.395G>A" "r.(?)" "p.(Arg132Gln)" "" "0000570417" "00024064" "10" "339" "0" "339" "0" "c.339C>T" "r.(?)" "p.(Phe113=)" "" "0000570418" "00024064" "10" "321" "0" "321" "0" "c.321C>T" "r.(?)" "p.(Ala107=)" "" "0000570419" "00024064" "10" "222" "0" "222" "0" "c.222C>G" "r.(?)" "p.(Ile74Met)" "" "0000570420" "00024064" "10" "-14" "0" "-6" "0" "c.-14_-6del" "r.(?)" "p.(=)" "" "0000618308" "00024064" "50" "1177" "0" "1177" "0" "c.1177T>C" "r.(?)" "p.(Trp393Arg)" "" "0000618309" "00024064" "50" "25" "0" "25" "0" "c.25G>T" "r.(?)" "p.(Val9Phe)" "" "0000618310" "00024064" "10" "9" "0" "9" "0" "c.9C>T" "r.(?)" "p.(Phe3=)" "" "0000624195" "00024064" "10" "240" "0" "240" "0" "c.240C>T" "r.(?)" "p.(Gly80=)" "" "0000650831" "00024064" "30" "222" "0" "222" "0" "c.222C>G" "r.(?)" "p.(Ile74Met)" "" "0000658809" "00024064" "10" "568" "-16" "568" "-15" "c.568-16_568-15insATTGACCTG" "r.(=)" "p.(=)" "" "0000658810" "00024064" "30" "561" "0" "561" "0" "c.561C>T" "r.(?)" "p.(Ile187=)" "" "0000658811" "00024064" "30" "241" "0" "241" "0" "c.241G>A" "r.(?)" "p.(Val81Met)" "" "0000669687" "00024064" "30" "222" "0" "222" "0" "c.222C>G" "r.(?)" "p.(Ile74Met)" "" "0000681698" "00024064" "10" "600" "0" "600" "0" "c.600C>T" "r.(?)" "p.(Pro200=)" "" "0000681699" "00024064" "30" "48" "0" "48" "0" "c.48C>G" "r.(?)" "p.(Ser16=)" "" "0000727863" "00024064" "30" "1374" "0" "1374" "0" "c.1374G>T" "r.(?)" "p.(Ser458=)" "" "0000727864" "00024064" "50" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Glu71Lys)" "" "0000815879" "00024064" "90" "160" "0" "160" "0" "c.160G>A" "r.(?)" "p.(Gly54Arg)" "" "0000815880" "00024064" "90" "224" "0" "224" "0" "c.224T>C" "r.(?)" "p.(Ile75Thr)" "" "0000815881" "00024064" "90" "1371" "0" "1371" "0" "c.1371C>G" "r.(?)" "p.(Phe457Leu)" "" "0000815914" "00024064" "50" "907" "0" "907" "0" "c.907A>G" "r.(?)" "p.(Ile303Val)" "" "0000815915" "00024064" "90" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Glu71Lys)" "" "0000815916" "00024064" "90" "82" "0" "82" "0" "c.82C>A" "r.(?)" "p.(Pro28Thr)" "" "0000815917" "00024064" "90" "1198" "-2" "1198" "-2" "c.1198-2A>C" "r.spl" "p.?" "" "0000815918" "00024064" "90" "49" "0" "49" "0" "c.49T>C" "r.(?)" "p.(Trp17Arg)" "" "0000815919" "00024064" "90" "639" "0" "639" "0" "c.639C>G" "r.(?)" "p.(Tyr213*)" "" "0000834527" "00024064" "70" "742" "0" "742" "0" "c.742del" "r.(?)" "p.(Trp248Glyfs*41)" "" "0000834528" "00024064" "50" "1381" "0" "1381" "0" "c.1381G>T" "r.(?)" "p.(Asp461Tyr)" "" "0000855943" "00024064" "30" "945" "0" "945" "0" "c.945C>T" "r.(?)" "p.(Asn315=)" "" "0000866597" "00024064" "10" "2161" "0" "2161" "0" "c.*751C>A" "r.(=)" "p.(=)" "" "0000866598" "00024064" "10" "1426" "0" "1426" "0" "c.*16del" "r.(?)" "p.(=)" "" "0000866599" "00024064" "10" "1197" "108" "1197" "108" "c.1197+108C>T" "r.(=)" "p.(=)" "" "0000866600" "00024064" "30" "981" "0" "981" "0" "c.981G>C" "r.(?)" "p.(Leu327=)" "" "0000915436" "00024064" "10" "705" "0" "705" "0" "c.705C>T" "r.(?)" "p.(Leu235=)" "" "0000915437" "00024064" "10" "521" "0" "521" "0" "c.521A>G" "r.(?)" "p.(Asp174Gly)" "" "0000915438" "00024064" "30" "240" "0" "240" "0" "c.240C>T" "r.(?)" "p.(Gly80=)" "" "0000915439" "00024064" "50" "215" "0" "215" "0" "c.215T>A" "r.(?)" "p.(Val72Glu)" "" "0000927060" "00024064" "30" "567" "17" "567" "17" "c.567+17G>A" "r.(=)" "p.(=)" "" "0000931210" "00024064" "10" "1048" "0" "1048" "0" "c.1048T>A" "r.(?)" "p.(Leu350Met)" "" "0000946038" "00024064" "90" "1128" "0" "1128" "0" "c.1128C>G" "r.(?)" "p.(Tyr376Ter)" "" "0000970264" "00024064" "30" "395" "0" "395" "0" "c.395G>A" "r.(?)" "p.(Arg132Gln)" "" "0000983937" "00024064" "10" "568" "-16" "568" "-15" "c.568-16_568-15insATTGACCTG" "r.(=)" "p.(=)" "" "0000983938" "00024064" "50" "215" "0" "215" "0" "c.215T>A" "r.(?)" "p.(Val72Glu)" "" "0001005624" "00024064" "30" "1048" "0" "1048" "0" "c.1048T>A" "r.(?)" "p.(Leu350Met)" "" "0001005625" "00024064" "50" "62" "0" "62" "0" "c.62A>G" "r.(?)" "p.(Asn21Ser)" "" "0001015882" "00024064" "30" "48" "0" "48" "0" "c.48C>G" "r.(?)" "p.(Ser16=)" "" "0001030012" "00024064" "50" "1371" "0" "1371" "0" "c.1371C>G" "r.(?)" "p.(Phe457Leu)" "" "0001043537" "00024064" "50" "1373" "0" "1373" "0" "c.1373C>T" "r.(?)" "p.(Ser458Leu)" "" "0001043538" "00024064" "90" "639" "0" "639" "0" "c.639C>G" "r.(?)" "p.(Tyr213Ter)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 29 "{{screeningid}}" "{{variantid}}" "0000080998" "0000130084" "0000205644" "0000435047" "0000205644" "0000435048" "0000205645" "0000435049" "0000205646" "0000435050" "0000205647" "0000435051" "0000205648" "0000435052" "0000205648" "0000815915" "0000205649" "0000435053" "0000205650" "0000435054" "0000205650" "0000435056" "0000205651" "0000435055" "0000205651" "0000435057" "0000205654" "0000435060" "0000208538" "0000438424" "0000208560" "0000438439" "0000294142" "0000650831" "0000305999" "0000669687" "0000387743" "0000815879" "0000387743" "0000815880" "0000387744" "0000815881" "0000387763" "0000815914" "0000387764" "0000815916" "0000387765" "0000815917" "0000387766" "0000815918" "0000387766" "0000815919" "0000401319" "0000834527" "0000401319" "0000834528" "0000444181" "0000946038"