### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC52A2) # 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}}" "SLC52A2" "solute carrier family 52, riboflavin transporter, member 2" "8" "q24.3" "unknown" "NG_032872.2" "UD_136091786481" "" "https://www.LOVD.nl/SLC52A2" "" "1" "30224" "79581" "607882" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-10-22 18:41:31" "00006" "2026-03-06 17:26:39" ## 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}}" "00019359" "SLC52A2" "transcript variant 1" "004" "NM_024531.4" "" "NP_078807.1" "" "" "" "-278" "1609" "1338" "145582276" "145584946" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03711" "BVVLS2" "Brown-Vialetto-Van Laere syndrome, type 2 (BVVLS2)" "AR" "614707" "" "" "" "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" "05384" "neuropathy" "neuropathy" "" "" "" "" "" "00006" "2018-01-27 20:34:06" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SLC52A2" "03711" "SLC52A2" "05083" ## Individuals ## Do not remove or alter this header ## ## Count = 37 "{{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}}" "00051498" "" "" "" "1" "" "01400" "ATX551" "" "F" "yes" "Turkey" "" "0" "" "" "" "" "00051499" "" "" "" "1" "" "01400" "ATX551" "" "F" "yes" "Turkey" "" "0" "" "" "" "" "00051501" "" "" "" "1" "" "01400" "" "" "M" "yes" "Israel" "" "0" "" "" "" "" "00051502" "" "" "" "1" "" "01400" "" "" "F" "yes" "Israel" "" "0" "" "" "" "" "00294594" "" "" "" "14" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00386512" "" "" "" "1" "" "00006" "{PMID:Megarbane 2000:10797435}, {PMID:Foley 2014:24253200}" "6-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Lebanon" "" "0" "" "" "Shiite;Muslim" "family" "00386513" "" "" "" "1" "" "00006" "{PMID:Johnson 2012:22740598}" "6-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Lebanon" "" "0" "" "" "" "family" "00386514" "" "" "" "1" "" "00006" "{PMID:Johnson 2012:22740598}, {PMID:Foley 2014:24253200}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Scotland" "" "0" "" "" "" "FamD;PatE1" "00386517" "" "" "" "1" "" "00006" "{PMID:Haack 2012:22864630}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Germany" "" "0" "" "" "" "patient" "00386518" "" "" "" "1" "" "00006" "{PMID:Foley 2014:24253200}" "patient" "F" "" "England;Iceland" "" "0" "" "" "" "PatE2" "00386519" "" "" "" "1" "" "00006" "{PMID:Foley 2014:24253200}" "patient" "F" "" "England" "" "0" "" "" "" "PatE3" "00386520" "" "" "" "1" "" "00006" "{PMID:Foley 2014:24253200}" "patient" "F" "" "England;Scotland" "" "0" "" "" "" "PatE4" "00386521" "" "" "" "1" "" "00006" "{PMID:Foley 2014:24253200}" "patient" "F" "" "Scotland" "" "0" "" "" "" "PatE5" "00386522" "" "" "" "2" "" "00006" "{PMID:Foley 2014:24253200}" "patient" "F" "" "Lebanon" "" "0" "" "" "" "Fam1PatA1" "00386523" "" "" "00386522" "1" "" "00006" "{PMID:Foley 2014:24253200}" "patient" "F" "" "Lebanon" "" "0" "" "" "" "Fam1PatA2" "00386524" "" "" "" "1" "" "00006" "{PMID:Foley 2014:24253200}" "patient" "M" "" "Ireland" "" "0" "" "" "" "PatI1" "00386525" "" "" "" "1" "" "00006" "{PMID:Foley 2014:24253200}" "patient" "M" "" "Lebanon" "" "0" "" "" "" "PatL1" "00386526" "" "" "" "1" "" "00006" "{PMID:Foley 2014:24253200}" "patient" "F" "" "England" "" "0" "" "" "" "PatE6" "00386527" "" "" "" "1" "" "00006" "{PMID:Foley 2014:24253200}" "patient" "M" "" "England" "" "0" "" "" "" "PatE7" "00386528" "" "" "" "2" "" "00006" "{PMID:Foley 2014:24253200}" "patient" "F" "" "England;Scotland" "" "0" "" "" "" "Fam2PatA3" "00386529" "" "" "00386528" "1" "" "00006" "{PMID:Foley 2014:24253200}" "patient" "F" "" "England;Scotland" "" "0" "" "" "" "Fam2PatA4" "00386530" "" "" "" "3" "" "00006" "{PMID:Foley 2014:24253200}" "patient" "M" "" "Lebanon" "" "0" "" "" "" "Fam3PatA5" "00386531" "" "" "00386530" "1" "" "00006" "{PMID:Foley 2014:24253200}" "patient" "M" "" "Lebanon" "" "0" "" "" "" "Fam3PatA6" "00386532" "" "" "00386530" "1" "" "00006" "{PMID:Foley 2014:24253200}" "patient" "M" "" "Lebanon" "" "0" "" "" "" "Fam3PatA7" "00386533" "" "" "" "1" "" "00006" "{PMID:Foley 2014:24253200}" "patient" "F" "" "" "" "0" "" "" "native American;Europe" "Fam4PatU1" "00386534" "" "" "" "1" "" "00006" "{PMID:Foley 2014:24253200}" "patient" "M" "" "" "" "0" "" "" "native American;Europe" "Fam4PatU2" "00386535" "" "" "" "1" "" "00006" "{PMID:Ciccolella 2013:23243084}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Italy" "" "0" "" "" "" "patient" "00469379" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00469380" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00469381" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00469382" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00469383" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00469384" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00469385" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00469386" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00472908" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "F" "no" "Iran" "" "0" "" "" "" "Fam9648Pat5" "00473503" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam302993Pat870" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 37 "{{individualid}}" "{{diseaseid}}" "00051498" "03711" "00051499" "03711" "00051501" "03711" "00051502" "03711" "00294594" "00198" "00386512" "05083" "00386513" "05083" "00386514" "05083" "00386517" "05083" "00386518" "00198" "00386519" "00198" "00386520" "00198" "00386521" "00198" "00386522" "00198" "00386523" "00198" "00386524" "00198" "00386525" "00198" "00386526" "00198" "00386527" "00198" "00386528" "00198" "00386529" "00198" "00386530" "00198" "00386531" "00198" "00386532" "00198" "00386533" "00198" "00386534" "00198" "00386535" "00198" "00469379" "00198" "00469380" "00198" "00469381" "00198" "00469382" "00198" "00469383" "00198" "00469384" "00198" "00469385" "00198" "00469386" "00198" "00472908" "05083" "00473503" "05384" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03711, 05083, 05384 ## Count = 35 "{{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}}" "0000038673" "03711" "00051502" "01400" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038674" "03711" "00051501" "01400" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038675" "03711" "00051498" "01400" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038676" "03711" "00051499" "01400" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000280318" "05083" "00386512" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "BVVLS2" "Brown-Vialetto-Van Laere syndrome" "" "0000280319" "05083" "00386513" "00006" "Familial, autosomal recessive" "" "see paper; ..., progressive sensorineural deafness, childhood amyotrophic lateral sclerosis" "" "" "" "" "" "" "" "" "BVVLS2" "Brown-Vialetto-Van Laere syndrome" "" "0000280320" "05083" "00386514" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "BVVLS2" "Brown-Vialetto-Van Laere syndrome" "" "0000280321" "00198" "00386518" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "BVVLS2" "" "" "0000280322" "00198" "00386519" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "BVVLS2" "" "" "0000280323" "00198" "00386520" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "BVVLS2" "" "" "0000280324" "00198" "00386521" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "BVVLS2" "" "" "0000280325" "00198" "00386522" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "BVVLS2" "" "" "0000280326" "00198" "00386523" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "BVVLS2" "" "" "0000280327" "00198" "00386524" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "BVVLS2" "" "" "0000280328" "00198" "00386525" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "BVVLS2" "" "" "0000280329" "00198" "00386526" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "BVVLS2" "cranial neuropathy, sensorimotor neuropathy" "" "0000280330" "00198" "00386527" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "BVVLS2" "cranial neuropathy, sensorimotor neuropathy" "" "0000280331" "00198" "00386528" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "BVVLS2" "cranial neuropathy, sensorimotor neuropathy" "" "0000280332" "00198" "00386529" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "BVVLS2" "" "" "0000280333" "00198" "00386530" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "BVVLS2" "" "" "0000280334" "00198" "00386531" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "BVVLS2" "" "" "0000280335" "00198" "00386532" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "BVVLS2" "" "" "0000280336" "00198" "00386533" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "BVVLS2" "" "" "0000280337" "00198" "00386534" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "BVVLS2" "" "" "0000280338" "00198" "00386535" "00006" "Familial, autosomal recessive" "" "see paper; ...; 2y-progressive dysphonia, exercise intolerance, dyspnoea, cyanosis" "" "" "" "" "" "" "" "" "BVVLS2" "progressive dysphonia, exercise intolerance, dyspnoea, cyanosis" "" "0000354532" "00198" "00469379" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" "" "0000354533" "00198" "00469380" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" "" "0000354534" "00198" "00469381" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" "" "0000354535" "00198" "00469382" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" "" "0000354536" "00198" "00469383" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" "" "0000354537" "00198" "00469384" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" "" "0000354538" "00198" "00469385" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" "" "0000354539" "00198" "00469386" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" "" "0000357703" "05083" "00472908" "00006" "Unknown" "15y" "onset 14y with GI problem including dysphagia, nausea and weight loss; Sensorineural hearing loss; Hand tremor; Atrophy of thenar and hypothenar; Mild generalized muscle weakness; EMG-NCV: motor neuron disease." "" "" "" "" "" "" "" "" "" "Brown-Vialetto-Van Laere syndrome" "" "0000358298" "05384" "00473503" "00006" "Familial, autosomal recessive" "35y" "age 34y , started 9y with distal lower and upper muscle weakness and atrophy , distal lower deformity after trauma, ataxia ,seizure and pure sensory neuropathy reported in EDX." "" "" "" "" "" "" "" "" "" "hereditary neuropathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 37 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000051443" "00051498" "1" "01400" "01400" "2015-09-30 10:44:30" "" "" "SEQ-NG" "DNA" "" "" "0000051444" "00051499" "1" "01400" "01400" "2015-09-30 11:15:10" "" "" "SEQ-NG" "DNA" "" "" "0000051447" "00051501" "1" "01400" "01400" "2015-09-30 11:39:40" "" "" "SEQ-NG" "DNA" "" "" "0000051448" "00051502" "1" "01400" "01400" "2015-09-30 11:48:14" "" "" "SEQ-NG" "DNA" "" "" "0000295762" "00294594" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000387740" "00386512" "1" "00006" "00006" "2021-10-22 18:14:55" "" "" "SEQ" "DNA" "" "" "0000387741" "00386513" "1" "00006" "00006" "2021-10-24 13:17:51" "" "" "SEQ;SEQ-NG" "DNA" "" "we" "0000387742" "00386514" "1" "00006" "00006" "2021-10-24 13:24:31" "" "" "SEQ" "DNA" "" "" "0000387745" "00386517" "1" "00006" "00006" "2021-10-24 15:07:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000387746" "00386518" "1" "00006" "00006" "2021-10-24 15:45:44" "" "" "SEQ" "DNA" "" "" "0000387747" "00386519" "1" "00006" "00006" "2021-10-24 15:45:44" "" "" "SEQ" "DNA" "" "" "0000387748" "00386520" "1" "00006" "00006" "2021-10-24 15:45:44" "" "" "SEQ" "DNA" "" "" "0000387749" "00386521" "1" "00006" "00006" "2021-10-24 15:45:44" "" "" "SEQ" "DNA" "" "" "0000387750" "00386522" "1" "00006" "00006" "2021-10-24 15:45:44" "" "" "SEQ" "DNA" "" "" "0000387751" "00386523" "1" "00006" "00006" "2021-10-24 15:45:44" "" "" "SEQ" "DNA" "" "" "0000387752" "00386524" "1" "00006" "00006" "2021-10-24 15:45:44" "" "" "SEQ" "DNA" "" "" "0000387753" "00386525" "1" "00006" "00006" "2021-10-24 15:45:44" "" "" "SEQ" "DNA" "" "" "0000387754" "00386526" "1" "00006" "00006" "2021-10-24 15:45:44" "" "" "SEQ" "DNA" "" "" "0000387755" "00386527" "1" "00006" "00006" "2021-10-24 15:45:44" "" "" "SEQ" "DNA" "" "" "0000387756" "00386528" "1" "00006" "00006" "2021-10-24 15:45:44" "" "" "SEQ" "DNA" "" "" "0000387757" "00386529" "1" "00006" "00006" "2021-10-24 15:45:44" "" "" "SEQ" "DNA" "" "" "0000387758" "00386530" "1" "00006" "00006" "2021-10-24 15:45:44" "" "" "SEQ" "DNA" "" "" "0000387759" "00386531" "1" "00006" "00006" "2021-10-24 15:45:44" "" "" "SEQ" "DNA" "" "" "0000387760" "00386532" "1" "00006" "00006" "2021-10-24 15:45:44" "" "" "SEQ" "DNA" "" "" "0000387761" "00386533" "1" "00006" "00006" "2021-10-24 15:45:44" "" "" "SEQ" "DNA" "" "" "0000387762" "00386534" "1" "00006" "00006" "2021-10-24 15:45:44" "" "" "SEQ" "DNA" "" "" "0000387763" "00386535" "1" "00006" "00006" "2021-10-24 15:51:33" "00006" "2021-10-24 16:03:15" "SEQ" "DNA" "" "" "0000471047" "00469379" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000471048" "00469380" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000471049" "00469381" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000471050" "00469382" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000471051" "00469383" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000471052" "00469384" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000471053" "00469385" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000471054" "00469386" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474577" "00472908" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475172" "00473503" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 23 "{{screeningid}}" "{{geneid}}" "0000387740" "SLC52A2" "0000387741" "SLC52A2" "0000387742" "SLC52A2" "0000387745" "SLC52A2" "0000387746" "SLC52A2" "0000387747" "SLC52A2" "0000387748" "SLC52A2" "0000387749" "SLC52A2" "0000387750" "SLC52A2" "0000387751" "SLC52A2" "0000387752" "SLC52A2" "0000387753" "SLC52A2" "0000387754" "SLC52A2" "0000387755" "SLC52A2" "0000387756" "SLC52A2" "0000387757" "SLC52A2" "0000387758" "SLC52A2" "0000387759" "SLC52A2" "0000387760" "SLC52A2" "0000387761" "SLC52A2" "0000387763" "SLC52A1" "0000387763" "SLC52A2" "0000387763" "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 = 122 "{{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}}" "0000080492" "3" "70" "8" "145583553" "145583553" "subst" "1.21873E-5" "01400" "SLC52A2_000002" "g.145583553C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.144359893C>T" "" "likely pathogenic" "" "0000080493" "3" "70" "8" "145583553" "145583553" "subst" "1.21873E-5" "01400" "SLC52A2_000002" "g.145583553C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.144359893C>T" "" "likely pathogenic" "" "0000080495" "3" "90" "8" "145584068" "145584068" "subst" "4.14559E-5" "01400" "SLC52A2_000001" "g.145584068G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.144360408G>A" "" "pathogenic" "" "0000080496" "3" "90" "8" "145584068" "145584068" "subst" "4.14559E-5" "01400" "SLC52A2_000001" "g.145584068G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.144360408G>A" "" "pathogenic" "" "0000254415" "0" "30" "8" "145583473" "145583473" "subst" "0" "01943" "SLC52A2_000003" "g.145583473A>G" "" "" "" "SLC52A2(NM_024531.4):c.321A>G (p.G107=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144359813A>G" "" "likely benign" "" "0000256564" "0" "50" "8" "145582966" "145582966" "subst" "6.13683E-5" "01943" "SLC52A2_000010" "g.145582966A>T" "" "" "" "SLC52A2(NM_024531.4):c.13A>T (p.T5S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144359306A>T" "" "VUS" "" "0000308472" "0" "30" "8" "145584337" "145584337" "subst" "0.00603152" "01943" "SLC52A2_000006" "g.145584337G>A" "" "" "" "SLC52A2(NM_001363118.1):c.1089G>A (p.P363=), SLC52A2(NM_024531.5):c.1089G>A (p.P363=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144360677G>A" "" "likely benign" "" "0000308473" "0" "50" "8" "145584541" "145584541" "subst" "3.26685E-5" "01943" "SLC52A2_000007" "g.145584541C>T" "" "" "" "SLC52A2(NM_001363118.2):c.1204C>T (p.(Arg402Trp)), SLC52A2(NM_024531.4):c.1204C>T (p.R402W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144360881C>T" "" "VUS" "" "0000308474" "0" "30" "8" "145583511" "145583511" "subst" "0.000560989" "01943" "SLC52A2_000004" "g.145583511T>C" "" "" "" "SLC52A2(NM_024531.4):c.359T>C (p.V120A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144359851T>C" "" "likely benign" "" "0000341501" "0" "50" "8" "145583319" "145583319" "subst" "1.62596E-5" "02327" "SLC52A2_000008" "g.145583319C>T" "" "" "" "SLC52A2(NM_001363118.1):c.167C>T (p.A56V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144359659C>T" "" "VUS" "" "0000349726" "0" "90" "8" "145583745" "145583745" "subst" "0" "02327" "SLC52A2_000009" "g.145583745G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144360085G>A" "" "pathogenic" "" "0000534201" "0" "90" "8" "145583301" "145583301" "dup" "0" "01943" "SLC52A2_000014" "g.145583301dup" "" "" "" "SLC52A2(NM_024531.4):c.149dupA (p.Y50*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144359641dup" "" "pathogenic" "" "0000534202" "0" "30" "8" "145583380" "145583380" "subst" "0.000727465" "01943" "SLC52A2_000015" "g.145583380C>T" "" "" "" "SLC52A2(NM_024531.4):c.228C>T (p.D76=), SLC52A2(NM_024531.5):c.228C>T (p.D76=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144359720C>T" "" "likely benign" "" "0000534203" "0" "30" "8" "145583505" "145583505" "subst" "0.00274417" "02330" "SLC52A2_000016" "g.145583505C>A" "" "" "" "SLC52A2(NM_024531.4):c.353C>A (p.A118D), SLC52A2(NM_024531.5):c.353C>A (p.A118D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144359845C>A" "" "likely benign" "" "0000534204" "0" "30" "8" "145583505" "145583505" "subst" "0.00274417" "01943" "SLC52A2_000016" "g.145583505C>A" "" "" "" "SLC52A2(NM_024531.4):c.353C>A (p.A118D), SLC52A2(NM_024531.5):c.353C>A (p.A118D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144359845C>A" "" "likely benign" "" "0000534205" "0" "30" "8" "145583505" "145583505" "subst" "0.00274417" "02325" "SLC52A2_000016" "g.145583505C>A" "" "" "" "SLC52A2(NM_024531.4):c.353C>A (p.A118D), SLC52A2(NM_024531.5):c.353C>A (p.A118D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144359845C>A" "" "likely benign" "" "0000534206" "0" "30" "8" "145583708" "145583708" "subst" "3.26078E-5" "01943" "SLC52A2_000017" "g.145583708G>A" "" "" "" "SLC52A2(NM_024531.4):c.556G>A (p.D186N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144360048G>A" "" "likely benign" "" "0000534207" "0" "30" "8" "145583999" "145583999" "subst" "0" "01943" "SLC52A2_000018" "g.145583999T>A" "" "" "" "SLC52A2(NM_024531.4):c.847T>A (p.L283M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144360339T>A" "" "likely benign" "" "0000534208" "0" "30" "8" "145584159" "145584159" "subst" "0.000872502" "01943" "SLC52A2_000019" "g.145584159C>T" "" "" "" "SLC52A2(NM_001363118.2):c.1001+6C>T, SLC52A2(NM_024531.4):c.1001+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144360499C>T" "" "likely benign" "" "0000534210" "0" "30" "8" "145584287" "145584287" "subst" "0.000602415" "01943" "SLC52A2_000021" "g.145584287G>A" "" "" "" "SLC52A2(NM_024531.4):c.1039G>A (p.V347M, p.(Val347Met)), SLC52A2(NM_024531.5):c.1039G>A (p.V347M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144360627G>A" "" "likely benign" "" "0000534211" "0" "30" "8" "145584358" "145584358" "subst" "8.45537E-6" "01943" "SLC52A2_000022" "g.145584358G>A" "" "" "" "SLC52A2(NM_024531.4):c.1110G>A (p.A370=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144360698G>A" "" "likely benign" "" "0000534212" "0" "30" "8" "145584361" "145584361" "subst" "0.000131163" "01943" "SLC52A2_000023" "g.145584361G>A" "" "" "" "SLC52A2(NM_001253815.1):c.1113G>A (p.(Gly371=)), SLC52A2(NM_001363118.2):c.1113G>A (p.G371=), SLC52A2(NM_024531.4):c.1113G>A (p.G371=), SLC52A2(NM...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144360701G>A" "" "likely benign" "" "0000534213" "0" "50" "8" "145584497" "145584499" "del" "0" "01943" "SLC52A2_000024" "g.145584497_145584499del" "" "" "" "SLC52A2(NM_024531.4):c.1160_1162delCCT (p.S387del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144360837_144360839del" "" "VUS" "" "0000534214" "0" "30" "8" "145584510" "145584510" "subst" "1.63003E-5" "01943" "SLC52A2_000025" "g.145584510G>A" "" "" "" "SLC52A2(NM_024531.4):c.1173G>A (p.V391=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144360850G>A" "" "likely benign" "" "0000534215" "0" "30" "8" "145584594" "145584594" "subst" "4.87797E-5" "01943" "SLC52A2_000026" "g.145584594C>T" "" "" "" "SLC52A2(NM_024531.4):c.1257C>T (p.G419=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144360934C>T" "" "likely benign" "" "0000534216" "0" "50" "8" "145584614" "145584614" "subst" "4.87547E-5" "01943" "SLC52A2_000027" "g.145584614C>T" "" "" "" "SLC52A2(NM_024531.4):c.1277C>T (p.P426L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144360954C>T" "" "VUS" "" "0000611519" "0" "30" "8" "145579954" "145579955" "ins" "0" "01804" "SLC52A2_000029" "g.145579954_145579955insGCACGGCACAAGGGCCCCCACACCTCACGTGCCTGGCCACAACCCAGAACAA" "" "" "" "FBXL6(NM_012162.2):c.1225+5_1225+6insTTGTTCTGGGTTGTGGCCAGGCACGTGAGGTGTGGGGGCCCTTGTGCCGTGC (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144356294_144356295insGCACGGCACAAGGGCCCCCACACCTCACGTGCCTGGCCACAACCCAGAACAA" "" "likely benign" "" "0000611520" "0" "30" "8" "145579961" "145579962" "ins" "0" "01804" "SLC52A2_000030" "g.145579961_145579962insTGGCACGGCACAAGGGCCCCCACACCTCACGTGCCTGGCCACAACCCAGAACAACTGACCC" "" "" "" "FBXL6(NM_012162.2):c.1225+5_1225+6insTTGTTCTGGGTTGTGGCCAGGCACGTGAGGTGTGGGGGCCCTTGTGCCGTGCCAGGGTCAG (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144356301_144356302insTGGCACGGCACAAGGGCCCCCACACCTCACGTGCCTGGCCACAACCCAGAACAACTGACCC" "" "likely benign" "" "0000611521" "0" "30" "8" "145583290" "145583290" "subst" "0" "01943" "SLC52A2_000032" "g.145583290C>T" "" "" "" "SLC52A2(NM_024531.4):c.138C>T (p.S46=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144359630C>T" "" "likely benign" "" "0000611523" "0" "30" "8" "145583380" "145583380" "subst" "0.000727465" "02326" "SLC52A2_000015" "g.145583380C>T" "" "" "" "SLC52A2(NM_024531.4):c.228C>T (p.D76=), SLC52A2(NM_024531.5):c.228C>T (p.D76=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144359720C>T" "" "likely benign" "" "0000611524" "0" "30" "8" "145584361" "145584361" "subst" "0.000131163" "02330" "SLC52A2_000023" "g.145584361G>A" "" "" "" "SLC52A2(NM_001253815.1):c.1113G>A (p.(Gly371=)), SLC52A2(NM_001363118.2):c.1113G>A (p.G371=), SLC52A2(NM_024531.4):c.1113G>A (p.G371=), SLC52A2(NM...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144360701G>A" "" "likely benign" "" "0000622022" "0" "10" "8" "145583707" "145583707" "subst" "0.00822138" "02330" "SLC52A2_000033" "g.145583707C>T" "" "" "" "SLC52A2(NM_024531.5):c.555C>T (p.L185=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144360047C>T" "" "benign" "" "0000622023" "0" "50" "8" "145584354" "145584354" "subst" "0.000173673" "02330" "SLC52A2_000034" "g.145584354C>T" "" "" "" "SLC52A2(NM_001363118.1):c.1106C>T (p.S369L), SLC52A2(NM_024531.5):c.1106C>T (p.S369L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144360694C>T" "" "VUS" "" "0000622024" "0" "30" "8" "145584370" "145584370" "subst" "0.00064372" "02330" "SLC52A2_000035" "g.145584370C>T" "" "" "" "SLC52A2(NM_024531.5):c.1122C>T (p.L374=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144360710C>T" "" "likely benign" "" "0000652451" "1" "10" "8" "145584694" "145584694" "subst" "0.024079" "03575" "SLC52A2_000036" "g.145584694C>T" "14/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "14 heterozygous, no homozygous; {DB:CLININrs34383175}" "Germline" "" "rs34383175" "0" "" "" "g.144361034C>T" "" "benign" "" "0000656032" "0" "10" "8" "145584337" "145584337" "subst" "0.00603152" "02330" "SLC52A2_000006" "g.145584337G>A" "" "" "" "SLC52A2(NM_001363118.1):c.1089G>A (p.P363=), SLC52A2(NM_024531.5):c.1089G>A (p.P363=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144360677G>A" "" "benign" "" "0000690205" "0" "50" "8" "145577725" "145577725" "subst" "0" "01943" "SLC52A2_000037" "g.145577725G>A" "" "" "" "TMEM249(NM_001280561.1):c.331C>T (p.R111C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690206" "0" "50" "8" "145583319" "145583319" "subst" "1.62596E-5" "01943" "SLC52A2_000008" "g.145583319C>T" "" "" "" "SLC52A2(NM_001363118.1):c.167C>T (p.A56V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721853" "0" "50" "8" "145583396" "145583396" "subst" "6.90973E-5" "02330" "SLC52A2_000038" "g.145583396C>T" "" "" "" "SLC52A2(NM_001363118.1):c.244C>T (p.R82W), SLC52A2(NM_024531.5):c.244C>T (p.R82W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721854" "0" "70" "8" "145583960" "145583960" "subst" "1.64398E-5" "02329" "SLC52A2_000005" "g.145583960C>T" "" "" "" "SLC52A2(NM_024531.5):c.808C>T (p.Q270*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000721855" "0" "50" "8" "145584041" "145584041" "subst" "5.3735E-5" "01943" "SLC52A2_000039" "g.145584041G>T" "" "" "" "SLC52A2(NM_001363118.1):c.889G>T (p.V297L), SLC52A2(NM_001363118.2):c.889G>T (p.(Val297Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721856" "0" "30" "8" "145584287" "145584287" "subst" "0.000602415" "02326" "SLC52A2_000021" "g.145584287G>A" "" "" "" "SLC52A2(NM_024531.4):c.1039G>A (p.V347M, p.(Val347Met)), SLC52A2(NM_024531.5):c.1039G>A (p.V347M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721857" "0" "50" "8" "145584354" "145584354" "subst" "0.000173673" "01943" "SLC52A2_000034" "g.145584354C>T" "" "" "" "SLC52A2(NM_001363118.1):c.1106C>T (p.S369L), SLC52A2(NM_024531.5):c.1106C>T (p.S369L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803532" "0" "50" "8" "145583366" "145583366" "subst" "0" "01943" "SLC52A2_000040" "g.145583366G>A" "" "" "" "SLC52A2(NM_001363118.1):c.214G>A (p.A72T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803533" "0" "50" "8" "145583396" "145583396" "subst" "6.90973E-5" "01943" "SLC52A2_000038" "g.145583396C>T" "" "" "" "SLC52A2(NM_001363118.1):c.244C>T (p.R82W), SLC52A2(NM_024531.5):c.244C>T (p.R82W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803534" "0" "50" "8" "145583493" "145583493" "subst" "0" "02327" "SLC52A2_000041" "g.145583493T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803535" "0" "30" "8" "145583521" "145583521" "subst" "0" "01943" "SLC52A2_000042" "g.145583521G>A" "" "" "" "SLC52A2(NM_024531.4):c.369G>A (p.L123=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803536" "0" "30" "8" "145583719" "145583719" "subst" "0" "01943" "SLC52A2_000043" "g.145583719G>A" "" "" "" "SLC52A2(NM_001363118.1):c.567G>A (p.E189=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803537" "0" "30" "8" "145583813" "145583813" "subst" "0" "01943" "SLC52A2_000044" "g.145583813C>T" "" "" "" "SLC52A2(NM_001363118.1):c.661C>T (p.P221S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803538" "0" "30" "8" "145584525" "145584525" "subst" "0" "01943" "SLC52A2_000045" "g.145584525G>A" "" "" "" "SLC52A2(NM_001363118.1):c.1188G>A (p.L396=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803539" "0" "30" "8" "145584657" "145584657" "subst" "0.000418771" "01943" "SLC52A2_000046" "g.145584657A>G" "" "" "" "SLC52A2(NM_001363118.1):c.1320A>G (p.A440=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000815874" "3" "90" "8" "145584068" "145584068" "subst" "4.14559E-5" "00006" "SLC52A2_000001" "g.145584068G>A" "" "{PMID:Foley 2014:24253200}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000815876" "3" "90" "8" "145584068" "145584068" "subst" "4.14559E-5" "00006" "SLC52A2_000001" "g.145584068G>A" "" "{PMID:Johnson 2012:22740598}" "" "" "not in 1400 control chromosomes" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000815878" "3" "90" "8" "145584068" "145584068" "subst" "4.14559E-5" "00006" "SLC52A2_000001" "g.145584068G>A" "" "{PMID:Johnson 2012:22740598}, {PMID:Foley 2014:24253200}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000815882" "11" "90" "8" "145583520" "145583520" "subst" "4.06425E-6" "00006" "SLC52A2_000047" "g.145583520T>C" "" "{PMID:Haack 2012:22864630}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000815883" "21" "90" "8" "145584264" "145584264" "subst" "7.16061E-5" "00006" "SLC52A2_000020" "g.145584264T>C" "" "{PMID:Haack 2012:22864630}" "" "" "" "Germline" "" "rs148234606" "0" "" "" "" "" "pathogenic (recessive)" "" "0000815884" "1" "90" "8" "145583045" "145583045" "subst" "0" "00006" "SLC52A2_000050" "g.145583045G>C" "" "{PMID:Foley 2014:24253200}" "" "" "" "Germline" "" "" "0" "" "" "g.144359385G>C" "" "pathogenic (recessive)" "" "0000815885" "1" "90" "8" "145583852" "145583852" "subst" "0" "00006" "SLC52A2_000051" "g.145583852C>T" "" "{PMID:Foley 2014:24253200}" "" "" "" "Germline" "" "" "0" "" "" "g.144360192C>T" "" "pathogenic (recessive)" "" "0000815886" "1" "90" "8" "145584068" "145584068" "subst" "4.14559E-5" "00006" "SLC52A2_000001" "g.145584068G>A" "" "{PMID:Foley 2014:24253200}" "" "" "" "Germline" "" "" "0" "" "" "g.144360408G>A" "" "pathogenic (recessive)" "" "0000815887" "1" "90" "8" "145584068" "145584068" "subst" "4.14559E-5" "00006" "SLC52A2_000001" "g.145584068G>A" "" "{PMID:Foley 2014:24253200}" "" "" "" "Germline" "" "" "0" "" "" "g.144360408G>A" "" "pathogenic (recessive)" "" "0000815888" "3" "90" "8" "145584068" "145584068" "subst" "4.14559E-5" "00006" "SLC52A2_000001" "g.145584068G>A" "" "{PMID:Foley 2014:24253200}" "" "" "" "Germline" "" "" "0" "" "" "g.144360408G>A" "" "pathogenic (recessive)" "" "0000815889" "3" "90" "8" "145584068" "145584068" "subst" "4.14559E-5" "00006" "SLC52A2_000001" "g.145584068G>A" "" "{PMID:Foley 2014:24253200}" "" "" "" "Germline" "" "" "0" "" "" "g.144360408G>A" "" "pathogenic (recessive)" "" "0000815890" "1" "90" "8" "145584066" "145584066" "subst" "8.28617E-6" "00006" "SLC52A2_000053" "g.145584066A>G" "" "{PMID:Foley 2014:24253200}" "" "" "" "Germline" "" "" "0" "" "" "g.144360406A>G" "" "pathogenic (recessive)" "" "0000815891" "3" "90" "8" "145584068" "145584068" "subst" "4.14559E-5" "00006" "SLC52A2_000001" "g.145584068G>A" "" "{PMID:Foley 2014:24253200}" "" "" "" "Germline" "" "" "0" "" "" "g.144360408G>A" "" "pathogenic (recessive)" "" "0000815892" "1" "90" "8" "145584087" "145584087" "subst" "2.49306E-5" "00006" "SLC52A2_000054" "g.145584087T>C" "" "{PMID:Foley 2014:24253200}" "" "" "" "Germline" "" "" "0" "" "" "g.144360427T>C" "" "pathogenic (recessive)" "" "0000815893" "1" "90" "8" "145584068" "145584068" "subst" "4.14559E-5" "00006" "SLC52A2_000001" "g.145584068G>A" "" "{PMID:Foley 2014:24253200}" "" "" "" "Germline" "" "" "0" "" "" "g.144360408G>A" "" "pathogenic (recessive)" "" "0000815894" "1" "90" "8" "145584068" "145584068" "subst" "4.14559E-5" "00006" "SLC52A2_000001" "g.145584068G>A" "" "{PMID:Foley 2014:24253200}" "" "" "" "Germline" "" "" "0" "" "" "g.144360408G>A" "" "pathogenic (recessive)" "" "0000815895" "1" "90" "8" "145584068" "145584068" "subst" "4.14559E-5" "00006" "SLC52A2_000001" "g.145584068G>A" "" "{PMID:Foley 2014:24253200}" "" "" "" "Germline" "" "" "0" "" "" "g.144360408G>A" "" "pathogenic (recessive)" "" "0000815896" "3" "90" "8" "145584068" "145584068" "subst" "4.14559E-5" "00006" "SLC52A2_000001" "g.145584068G>A" "" "{PMID:Foley 2014:24253200}" "" "" "" "Germline" "" "" "0" "" "" "g.144360408G>A" "" "pathogenic (recessive)" "" "0000815897" "3" "90" "8" "145584068" "145584068" "subst" "4.14559E-5" "00006" "SLC52A2_000001" "g.145584068G>A" "" "{PMID:Foley 2014:24253200}" "" "" "" "Germline" "" "" "0" "" "" "g.144360408G>A" "" "pathogenic (recessive)" "" "0000815898" "3" "90" "8" "145584068" "145584068" "subst" "4.14559E-5" "00006" "SLC52A2_000001" "g.145584068G>A" "" "{PMID:Foley 2014:24253200}" "" "" "" "Germline" "" "" "0" "" "" "g.144360408G>A" "" "pathogenic (recessive)" "" "0000815899" "1" "90" "8" "145584003" "145584003" "subst" "0" "00006" "SLC52A2_000052" "g.145584003C>A" "" "{PMID:Foley 2014:24253200}" "" "" "" "Germline" "" "" "0" "" "" "g.144360343C>A" "" "pathogenic (recessive)" "" "0000815900" "1" "90" "8" "145584003" "145584003" "subst" "0" "00006" "SLC52A2_000052" "g.145584003C>A" "" "{PMID:Foley 2014:24253200}" "" "" "" "Germline" "" "" "0" "" "" "g.144360343C>A" "" "pathogenic (recessive)" "" "0000815901" "2" "90" "8" "145584087" "145584087" "subst" "2.49306E-5" "00006" "SLC52A2_000054" "g.145584087T>C" "" "{PMID:Foley 2014:24253200}" "" "" "" "Germline" "" "" "0" "" "" "g.144360427T>C" "" "pathogenic (recessive)" "" "0000815902" "2" "90" "8" "145584595" "145584595" "subst" "1.2194E-5" "00006" "SLC52A2_000055" "g.145584595G>A" "" "{PMID:Foley 2014:24253200}" "" "" "" "Germline" "" "" "0" "" "" "g.144360935G>A" "" "pathogenic (recessive)" "" "0000815903" "2" "90" "8" "145584264" "145584264" "subst" "7.16061E-5" "00006" "SLC52A2_000020" "g.145584264T>C" "" "{PMID:Foley 2014:24253200}" "" "" "" "Germline" "" "" "0" "" "" "g.144360604T>C" "" "pathogenic (recessive)" "" "0000815904" "2" "90" "8" "145584264" "145584264" "subst" "7.16061E-5" "00006" "SLC52A2_000020" "g.145584264T>C" "" "{PMID:Foley 2014:24253200}" "" "" "" "Germline" "" "" "0" "" "" "g.144360604T>C" "" "pathogenic (recessive)" "" "0000815905" "2" "90" "8" "145584068" "145584068" "subst" "4.14559E-5" "00006" "SLC52A2_000001" "g.145584068G>A" "" "{PMID:Foley 2014:24253200}" "" "" "" "Germline" "" "" "0" "" "" "g.144360408G>A" "" "pathogenic (recessive)" "" "0000815906" "2" "90" "8" "145584264" "145584264" "subst" "7.16061E-5" "00006" "SLC52A2_000020" "g.145584264T>C" "" "{PMID:Foley 2014:24253200}" "" "" "" "Germline" "" "" "0" "" "" "g.144360604T>C" "" "pathogenic (recessive)" "" "0000815907" "2" "90" "8" "145584595" "145584595" "subst" "1.2194E-5" "00006" "SLC52A2_000055" "g.145584595G>A" "" "{PMID:Foley 2014:24253200}" "" "" "" "Germline" "" "" "0" "" "" "g.144360935G>A" "" "pathogenic (recessive)" "" "0000815908" "2" "90" "8" "145584264" "145584264" "subst" "7.16061E-5" "00006" "SLC52A2_000020" "g.145584264T>C" "" "{PMID:Foley 2014:24253200}" "" "" "" "Germline" "" "" "0" "" "" "g.144360604T>C" "" "pathogenic (recessive)" "" "0000815909" "2" "90" "8" "145584264" "145584264" "subst" "7.16061E-5" "00006" "SLC52A2_000020" "g.145584264T>C" "" "{PMID:Foley 2014:24253200}" "" "" "" "Germline" "" "" "0" "" "" "g.144360604T>C" "" "pathogenic (recessive)" "" "0000815910" "2" "90" "8" "145584068" "145584068" "subst" "4.14559E-5" "00006" "SLC52A2_000001" "g.145584068G>A" "" "{PMID:Foley 2014:24253200}" "" "" "" "Germline" "" "" "0" "" "" "g.144360408G>A" "" "pathogenic (recessive)" "" "0000815911" "2" "90" "8" "145584068" "145584068" "subst" "4.14559E-5" "00006" "SLC52A2_000001" "g.145584068G>A" "" "{PMID:Foley 2014:24253200}" "" "" "" "Germline" "" "" "0" "" "" "g.144360408G>A" "" "pathogenic (recessive)" "" "0000815912" "11" "90" "8" "145583307" "145583307" "subst" "1.22002E-5" "00006" "SLC52A2_000048" "g.145583307C>T" "" "{PMID:Ciccolella 2013:23243084}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000815913" "21" "90" "8" "145584592" "145584592" "subst" "0" "00006" "SLC52A2_000049" "g.145584592G>A" "" "{PMID:Ciccolella 2013:23243084}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000851840" "0" "30" "8" "145583275" "145583275" "subst" "3.27874E-5" "01943" "SLC52A2_000057" "g.145583275C>T" "" "" "" "SLC52A2(NM_001363118.1):c.131-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851841" "0" "30" "8" "145584314" "145584314" "subst" "0.000183862" "01943" "SLC52A2_000059" "g.145584314C>T" "" "" "" "SLC52A2(NM_001363118.1):c.1066C>T (p.L356=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851842" "0" "30" "8" "145584489" "145584489" "subst" "4.4887E-5" "01943" "SLC52A2_000060" "g.145584489C>A" "" "" "" "SLC52A2(NM_001363118.1):c.1152C>A (p.G384=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861125" "0" "10" "8" "145582839" "145582839" "subst" "0" "02326" "SLC52A2_000056" "g.145582839T>C" "" "" "" "SLC52A2(NM_024531.5):c.-110-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000861126" "0" "50" "8" "145583976" "145583976" "subst" "3.29823E-5" "01943" "SLC52A2_000058" "g.145583976G>T" "" "" "" "SLC52A2(NM_001253815.1):c.824G>T (p.R275L), SLC52A2(NM_001363118.2):c.824G>T (p.(Arg275Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861127" "0" "30" "8" "145584361" "145584361" "subst" "0.000131163" "01804" "SLC52A2_000023" "g.145584361G>A" "" "" "" "SLC52A2(NM_001253815.1):c.1113G>A (p.(Gly371=)), SLC52A2(NM_001363118.2):c.1113G>A (p.G371=), SLC52A2(NM_024531.4):c.1113G>A (p.G371=), SLC52A2(NM...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888224" "0" "50" "8" "145583576" "145583576" "subst" "2.03155E-5" "02330" "SLC52A2_000061" "g.145583576C>T" "" "" "" "SLC52A2(NM_001363118.2):c.424C>T (p.R142C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888225" "0" "30" "8" "145584159" "145584159" "subst" "0.000872502" "02330" "SLC52A2_000019" "g.145584159C>T" "" "" "" "SLC52A2(NM_001363118.2):c.1001+6C>T, SLC52A2(NM_024531.4):c.1001+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912902" "0" "50" "8" "145583630" "145583630" "subst" "7.73043E-5" "02330" "SLC52A2_000062" "g.145583630G>A" "" "" "" "SLC52A2(NM_001363118.2):c.478G>A (p.V160M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912903" "0" "10" "8" "145583795" "145583795" "subst" "0.000333624" "02330" "SLC52A2_000063" "g.145583795C>T" "" "" "" "SLC52A2(NM_001363118.2):c.643C>T (p.L215=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000929422" "0" "70" "8" "145583636" "145583636" "subst" "0" "02327" "SLC52A2_000064" "g.145583636G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000978124" "0" "30" "8" "145582270" "145582270" "subst" "0" "01804" "SLC52A2_000065" "g.145582270G>A" "" "" "" "SLC52A2(NM_001253816.2):c.-111G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978125" "0" "50" "8" "145582275" "145582275" "subst" "0" "01804" "SLC52A2_000066" "g.145582275G>T" "" "" "" "SLC52A2(NM_001253816.2):c.-111+5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978126" "0" "30" "8" "145583272" "145583272" "subst" "5.336E-5" "02326" "SLC52A2_000067" "g.145583272C>G" "" "" "" "SLC52A2(NM_001363118.2):c.131-11C>G, SLC52A2(NM_024531.5):c.131-11C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978127" "0" "50" "8" "145583703" "145583703" "subst" "4.07887E-6" "01804" "SLC52A2_000068" "g.145583703C>T" "" "" "" "SLC52A2(NM_001363118.2):c.551C>T (p.(Pro184Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978128" "0" "50" "8" "145583976" "145583976" "subst" "3.29823E-5" "01804" "SLC52A2_000058" "g.145583976G>T" "" "" "" "SLC52A2(NM_001253815.1):c.824G>T (p.R275L), SLC52A2(NM_001363118.2):c.824G>T (p.(Arg275Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978129" "0" "50" "8" "145584041" "145584041" "subst" "5.3735E-5" "01804" "SLC52A2_000039" "g.145584041G>T" "" "" "" "SLC52A2(NM_001363118.1):c.889G>T (p.V297L), SLC52A2(NM_001363118.2):c.889G>T (p.(Val297Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978130" "0" "30" "8" "145584361" "145584361" "subst" "0.000131163" "02326" "SLC52A2_000023" "g.145584361G>A" "" "" "" "SLC52A2(NM_001253815.1):c.1113G>A (p.(Gly371=)), SLC52A2(NM_001363118.2):c.1113G>A (p.G371=), SLC52A2(NM_024531.4):c.1113G>A (p.G371=), SLC52A2(NM...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997049" "0" "30" "8" "145577521" "145577521" "subst" "0.00152332" "01804" "SLC52A2_000069" "g.145577521G>A" "" "" "" "TMEM249(NM_001252402.2):c.445C>T (p.(His149Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997050" "0" "50" "8" "145577614" "145577614" "subst" "0" "01804" "SLC52A2_000070" "g.145577614C>T" "" "" "" "TMEM249(NM_001252402.2):c.442G>A (p.(Ala148Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997051" "0" "30" "8" "145584287" "145584287" "subst" "0.000602415" "01804" "SLC52A2_000021" "g.145584287G>A" "" "" "" "SLC52A2(NM_024531.4):c.1039G>A (p.V347M, p.(Val347Met)), SLC52A2(NM_024531.5):c.1039G>A (p.V347M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014424" "0" "30" "8" "145583272" "145583272" "subst" "5.336E-5" "02330" "SLC52A2_000067" "g.145583272C>G" "" "" "" "SLC52A2(NM_001363118.2):c.131-11C>G, SLC52A2(NM_024531.5):c.131-11C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036845" "0" "50" "8" "145583703" "145583703" "del" "0" "01804" "SLC52A2_000071" "g.145583703del" "" "" "" "SLC52A2(NM_001363118.2):c.551del (p.(Pro184Argfs*17))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036846" "0" "90" "8" "145584087" "145584087" "subst" "2.49306E-5" "01804" "SLC52A2_000054" "g.145584087T>C" "" "" "" "SLC52A2(NM_001363118.2):c.935T>C (p.(Leu312Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001053165" "0" "50" "8" "145584541" "145584541" "subst" "3.26685E-5" "01804" "SLC52A2_000007" "g.145584541C>T" "" "" "" "SLC52A2(NM_001363118.2):c.1204C>T (p.(Arg402Trp)), SLC52A2(NM_024531.4):c.1204C>T (p.R402W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001059169" "0" "90" "8" "145583307" "145583307" "subst" "1.22002E-5" "00006" "SLC52A2_000048" "g.145583307C>T" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.144359647C>T" "" "pathogenic" "" "0001059170" "0" "90" "8" "145584264" "145584264" "subst" "7.16061E-5" "00006" "SLC52A2_000020" "g.145584264T>C" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.144360604T>C" "" "pathogenic" "" "0001059171" "0" "90" "8" "145583307" "145583307" "subst" "1.22002E-5" "00006" "SLC52A2_000048" "g.145583307C>T" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.144359647C>T" "" "pathogenic" "" "0001059172" "0" "90" "8" "145584068" "145584068" "subst" "4.14559E-5" "00006" "SLC52A2_000001" "g.145584068G>A" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.144360408G>A" "" "pathogenic" "" "0001059173" "0" "90" "8" "145583444" "145583445" "del" "0" "00006" "SLC52A2_000073" "g.145583444_145583445del" "" "{PMID:Retterer 2016:26633542}" "" "292_293delCT" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.144359784_144359785del" "" "pathogenic" "" "0001059174" "0" "70" "8" "145584087" "145584087" "subst" "2.49306E-5" "00006" "SLC52A2_000054" "g.145584087T>C" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.144360427T>C" "" "likely pathogenic" "" "0001059175" "0" "70" "8" "145583337" "145583337" "subst" "4.06303E-6" "00006" "SLC52A2_000072" "g.145583337T>G" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.144359677T>G" "" "likely pathogenic" "" "0001059176" "0" "70" "8" "145584581" "145584581" "subst" "1.22007E-5" "00006" "SLC52A2_000074" "g.145584581G>C" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.144360921G>C" "" "likely pathogenic" "" "0001068975" "1" "70" "8" "145584534" "145584535" "delins" "0" "00006" "SLC52A2_000077" "g.145584534_145584535delinsT" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM2, PVS1, PP4" "Germline" "" "" "0" "" "" "g.144360874_144360875delinsT" "SCV006075268" "likely pathogenic" "ACMG" "0001069568" "3" "70" "8" "145584092" "145584092" "subst" "0" "00006" "SLC52A2_000076" "g.145584092G>A" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM2, PM1-sup, PM3-sup, PP3, PP4" "Germline" "" "" "0" "" "" "g.144360432G>A" "SCV006075267" "likely pathogenic" "ACMG" "0001070059" "0" "50" "8" "145583958" "145583958" "subst" "0.000123301" "00006" "SLC52A2_000075" "g.145583958A>G" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG BP4, PM3, PP4" "Germline" "" "" "0" "" "" "g.144360298A>G" "SCV006075266" "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 SLC52A2 ## Count = 122 "{{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}}" "0000080492" "00019359" "70" "401" "0" "401" "0" "c.401C>T" "r.(?)" "p.(Pro134Leu)" "3" "0000080493" "00019359" "70" "401" "0" "401" "0" "c.401C>T" "r.(?)" "p.(Pro134Leu)" "3" "0000080495" "00019359" "90" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Gly306Arg)" "3" "0000080496" "00019359" "90" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Gly306Arg)" "3" "0000254415" "00019359" "30" "321" "0" "321" "0" "c.321A>G" "r.(?)" "p.(Gly107=)" "" "0000256564" "00019359" "50" "13" "0" "13" "0" "c.13A>T" "r.(?)" "p.(Thr5Ser)" "" "0000308472" "00019359" "30" "1089" "0" "1089" "0" "c.1089G>A" "r.(?)" "p.(Pro363=)" "" "0000308473" "00019359" "50" "1204" "0" "1204" "0" "c.1204C>T" "r.(?)" "p.(Arg402Trp)" "" "0000308474" "00019359" "30" "359" "0" "359" "0" "c.359T>C" "r.(?)" "p.(Val120Ala)" "" "0000341501" "00019359" "50" "167" "0" "167" "0" "c.167C>T" "r.(?)" "p.(Ala56Val)" "" "0000349726" "00019359" "90" "593" "0" "593" "0" "c.593G>A" "r.(?)" "p.(Trp198Ter)" "" "0000534201" "00019359" "90" "149" "0" "149" "0" "c.149dup" "r.(?)" "p.(Tyr50Ter)" "" "0000534202" "00019359" "30" "228" "0" "228" "0" "c.228C>T" "r.(?)" "p.(Asp76=)" "" "0000534203" "00019359" "30" "353" "0" "353" "0" "c.353C>A" "r.(?)" "p.(Ala118Asp)" "" "0000534204" "00019359" "30" "353" "0" "353" "0" "c.353C>A" "r.(?)" "p.(Ala118Asp)" "" "0000534205" "00019359" "30" "353" "0" "353" "0" "c.353C>A" "r.(?)" "p.(Ala118Asp)" "" "0000534206" "00019359" "30" "556" "0" "556" "0" "c.556G>A" "r.(?)" "p.(Asp186Asn)" "" "0000534207" "00019359" "30" "847" "0" "847" "0" "c.847T>A" "r.(?)" "p.(Leu283Met)" "" "0000534208" "00019359" "30" "1001" "6" "1001" "6" "c.1001+6C>T" "r.(=)" "p.(=)" "" "0000534210" "00019359" "30" "1039" "0" "1039" "0" "c.1039G>A" "r.(?)" "p.(Val347Met)" "" "0000534211" "00019359" "30" "1110" "0" "1110" "0" "c.1110G>A" "r.(?)" "p.(Ala370=)" "" "0000534212" "00019359" "30" "1113" "0" "1113" "0" "c.1113G>A" "r.(?)" "p.(Gly371=)" "" "0000534213" "00019359" "50" "1160" "0" "1162" "0" "c.1160_1162del" "r.(?)" "p.(Ser387del)" "" "0000534214" "00019359" "30" "1173" "0" "1173" "0" "c.1173G>A" "r.(?)" "p.(Val391=)" "" "0000534215" "00019359" "30" "1257" "0" "1257" "0" "c.1257C>T" "r.(?)" "p.(Gly419=)" "" "0000534216" "00019359" "50" "1277" "0" "1277" "0" "c.1277C>T" "r.(?)" "p.(Pro426Leu)" "" "0000611519" "00019359" "30" "-2600" "0" "-2599" "0" "c.-2600_-2599insGCACGGCACAAGGGCCCCCACACCTCACGTGCCTGGCCACAACCCAGAACAA" "r.(?)" "p.(=)" "" "0000611520" "00019359" "30" "-2593" "0" "-2592" "0" "c.-2593_-2592insTGGCACGGCACAAGGGCCCCCACACCTCACGTGCCTGGCCACAACCCAGAACAACTGACCC" "r.(?)" "p.(=)" "" "0000611521" "00019359" "30" "138" "0" "138" "0" "c.138C>T" "r.(?)" "p.(Ser46=)" "" "0000611523" "00019359" "30" "228" "0" "228" "0" "c.228C>T" "r.(?)" "p.(Asp76=)" "" "0000611524" "00019359" "30" "1113" "0" "1113" "0" "c.1113G>A" "r.(?)" "p.(Gly371=)" "" "0000622022" "00019359" "10" "555" "0" "555" "0" "c.555C>T" "r.(?)" "p.(Leu185=)" "" "0000622023" "00019359" "50" "1106" "0" "1106" "0" "c.1106C>T" "r.(?)" "p.(Ser369Leu)" "" "0000622024" "00019359" "30" "1122" "0" "1122" "0" "c.1122C>T" "r.(?)" "p.(Leu374=)" "" "0000652451" "00019359" "10" "1357" "0" "1357" "0" "c.*19C>T" "r.(=)" "p.(=)" "" "0000656032" "00019359" "10" "1089" "0" "1089" "0" "c.1089G>A" "r.(?)" "p.(Pro363=)" "" "0000690205" "00019359" "50" "-4829" "0" "-4829" "0" "c.-4829G>A" "r.(?)" "p.(=)" "" "0000690206" "00019359" "50" "167" "0" "167" "0" "c.167C>T" "r.(?)" "p.(Ala56Val)" "" "0000721853" "00019359" "50" "244" "0" "244" "0" "c.244C>T" "r.(?)" "p.(Arg82Trp)" "" "0000721854" "00019359" "70" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Gln270Ter)" "" "0000721855" "00019359" "50" "889" "0" "889" "0" "c.889G>T" "r.(?)" "p.(Val297Leu)" "" "0000721856" "00019359" "30" "1039" "0" "1039" "0" "c.1039G>A" "r.(?)" "p.(Val347Met)" "" "0000721857" "00019359" "50" "1106" "0" "1106" "0" "c.1106C>T" "r.(?)" "p.(Ser369Leu)" "" "0000803532" "00019359" "50" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Ala72Thr)" "" "0000803533" "00019359" "50" "244" "0" "244" "0" "c.244C>T" "r.(?)" "p.(Arg82Trp)" "" "0000803534" "00019359" "50" "341" "0" "341" "0" "c.341T>C" "r.(?)" "p.(Phe114Ser)" "" "0000803535" "00019359" "30" "369" "0" "369" "0" "c.369G>A" "r.(?)" "p.(Leu123=)" "" "0000803536" "00019359" "30" "567" "0" "567" "0" "c.567G>A" "r.(?)" "p.(Glu189=)" "" "0000803537" "00019359" "30" "661" "0" "661" "0" "c.661C>T" "r.(?)" "p.(Pro221Ser)" "" "0000803538" "00019359" "30" "1188" "0" "1188" "0" "c.1188G>A" "r.(?)" "p.(Leu396=)" "" "0000803539" "00019359" "30" "1320" "0" "1320" "0" "c.1320A>G" "r.(?)" "p.(Ala440=)" "" "0000815874" "00019359" "90" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Gly306Arg)" "" "0000815876" "00019359" "90" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Gly306Arg)" "" "0000815878" "00019359" "90" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Gly306Arg)" "" "0000815882" "00019359" "90" "368" "0" "368" "0" "c.368T>C" "r.(?)" "p.(Leu123Pro)" "" "0000815883" "00019359" "90" "1016" "0" "1016" "0" "c.1016T>C" "r.(?)" "p.(Leu339Pro)" "" "0000815884" "00019359" "90" "92" "0" "92" "0" "c.92G>C" "r.(?)" "p.(Trp31Ser)" "" "0000815885" "00019359" "90" "700" "0" "700" "0" "c.700C>T" "r.(?)" "p.(Gln234Ter)" "" "0000815886" "00019359" "90" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Gly306Arg)" "" "0000815887" "00019359" "90" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Gly306Arg)" "" "0000815888" "00019359" "90" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Gly306Arg)" "" "0000815889" "00019359" "90" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Gly306Arg)" "" "0000815890" "00019359" "90" "914" "0" "914" "0" "c.914A>G" "r.(?)" "p.(Tyr305Cys)" "" "0000815891" "00019359" "90" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Gly306Arg)" "" "0000815892" "00019359" "90" "935" "0" "935" "0" "c.935T>C" "r.(?)" "p.(Leu312Pro)" "" "0000815893" "00019359" "90" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Gly306Arg)" "" "0000815894" "00019359" "90" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Gly306Arg)" "" "0000815895" "00019359" "90" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Gly306Arg)" "" "0000815896" "00019359" "90" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Gly306Arg)" "" "0000815897" "00019359" "90" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Gly306Arg)" "" "0000815898" "00019359" "90" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Gly306Arg)" "" "0000815899" "00019359" "90" "851" "0" "851" "0" "c.851C>A" "r.(?)" "p.(Ala284Asp)" "" "0000815900" "00019359" "90" "851" "0" "851" "0" "c.851C>A" "r.(?)" "p.(Ala284Asp)" "" "0000815901" "00019359" "90" "935" "0" "935" "0" "c.935T>C" "r.(?)" "p.(Leu312Pro)" "" "0000815902" "00019359" "90" "1258" "0" "1258" "0" "c.1258G>A" "r.(?)" "p.(Ala420Thr)" "" "0000815903" "00019359" "90" "1016" "0" "1016" "0" "c.1016T>C" "r.(?)" "p.(Leu339Pro)" "" "0000815904" "00019359" "90" "1016" "0" "1016" "0" "c.1016T>C" "r.(?)" "p.(Leu339Pro)" "" "0000815905" "00019359" "90" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Gly306Arg)" "" "0000815906" "00019359" "90" "1016" "0" "1016" "0" "c.1016T>C" "r.(?)" "p.(Leu339Pro)" "" "0000815907" "00019359" "90" "1258" "0" "1258" "0" "c.1258G>A" "r.(?)" "p.(Ala420Thr)" "" "0000815908" "00019359" "90" "1016" "0" "1016" "0" "c.1016T>C" "r.(?)" "p.(Leu339Pro)" "" "0000815909" "00019359" "90" "1016" "0" "1016" "0" "c.1016T>C" "r.(?)" "p.(Leu339Pro)" "" "0000815910" "00019359" "90" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Gly306Arg)" "" "0000815911" "00019359" "90" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Gly306Arg)" "" "0000815912" "00019359" "90" "155" "0" "155" "0" "c.155C>T" "r.(?)" "p.(Ser52Phe)" "" "0000815913" "00019359" "90" "1255" "0" "1255" "0" "c.1255G>A" "r.(?)" "p.(Gly419Ser)" "" "0000851840" "00019359" "30" "131" "-8" "131" "-8" "c.131-8C>T" "r.(=)" "p.(=)" "" "0000851841" "00019359" "30" "1066" "0" "1066" "0" "c.1066C>T" "r.(?)" "p.(Leu356=)" "" "0000851842" "00019359" "30" "1152" "0" "1152" "0" "c.1152C>A" "r.(?)" "p.(Gly384=)" "" "0000861125" "00019359" "10" "-110" "-5" "-110" "-5" "c.-110-5T>C" "r.spl?" "p.?" "" "0000861126" "00019359" "50" "824" "0" "824" "0" "c.824G>T" "r.(?)" "p.(Arg275Leu)" "" "0000861127" "00019359" "30" "1113" "0" "1113" "0" "c.1113G>A" "r.(?)" "p.(Gly371=)" "" "0000888224" "00019359" "50" "424" "0" "424" "0" "c.424C>T" "r.(?)" "p.(Arg142Cys)" "" "0000888225" "00019359" "30" "1001" "6" "1001" "6" "c.1001+6C>T" "r.(=)" "p.(=)" "" "0000912902" "00019359" "50" "478" "0" "478" "0" "c.478G>A" "r.(?)" "p.(Val160Met)" "" "0000912903" "00019359" "10" "643" "0" "643" "0" "c.643C>T" "r.(?)" "p.(Leu215=)" "" "0000929422" "00019359" "70" "484" "0" "484" "0" "c.484G>A" "r.(?)" "p.(Ala162Thr)" "" "0000978124" "00019359" "30" "-284" "0" "-284" "0" "c.-284G>A" "r.(?)" "p.(=)" "" "0000978125" "00019359" "50" "-279" "0" "-279" "0" "c.-279G>T" "r.(?)" "p.(=)" "" "0000978126" "00019359" "30" "131" "-11" "131" "-11" "c.131-11C>G" "r.(=)" "p.(=)" "" "0000978127" "00019359" "50" "551" "0" "551" "0" "c.551C>T" "r.(?)" "p.(Pro184Leu)" "" "0000978128" "00019359" "50" "824" "0" "824" "0" "c.824G>T" "r.(?)" "p.(Arg275Leu)" "" "0000978129" "00019359" "50" "889" "0" "889" "0" "c.889G>T" "r.(?)" "p.(Val297Leu)" "" "0000978130" "00019359" "30" "1113" "0" "1113" "0" "c.1113G>A" "r.(?)" "p.(Gly371=)" "" "0000997049" "00019359" "30" "-5033" "0" "-5033" "0" "c.-5033G>A" "r.(?)" "p.(=)" "" "0000997050" "00019359" "50" "-4940" "0" "-4940" "0" "c.-4940C>T" "r.(?)" "p.(=)" "" "0000997051" "00019359" "30" "1039" "0" "1039" "0" "c.1039G>A" "r.(?)" "p.(Val347Met)" "" "0001014424" "00019359" "30" "131" "-11" "131" "-11" "c.131-11C>G" "r.(=)" "p.(=)" "" "0001036845" "00019359" "50" "551" "0" "551" "0" "c.551del" "r.(?)" "p.(Pro184Argfs*17)" "" "0001036846" "00019359" "90" "935" "0" "935" "0" "c.935T>C" "r.(?)" "p.(Leu312Pro)" "" "0001053165" "00019359" "50" "1204" "0" "1204" "0" "c.1204C>T" "r.(?)" "p.(Arg402Trp)" "" "0001059169" "00019359" "90" "155" "0" "155" "0" "c.155C>T" "r.(?)" "p.(Ser52Phe)" "" "0001059170" "00019359" "90" "1016" "0" "1016" "0" "c.1016T>C" "r.(?)" "p.(Leu339Pro)" "" "0001059171" "00019359" "90" "155" "0" "155" "0" "c.155C>T" "r.(?)" "p.(Ser52Phe)" "" "0001059172" "00019359" "90" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Gly306Arg)" "" "0001059173" "00019359" "90" "292" "0" "293" "0" "c.292_293del" "r.(?)" "p.(Leu98ValfsTer91)" "" "0001059174" "00019359" "70" "935" "0" "935" "0" "c.935T>C" "r.(?)" "p.(Leu312Pro)" "" "0001059175" "00019359" "70" "185" "0" "185" "0" "c.185T>G" "r.(?)" "p.(Leu62Arg)" "" "0001059176" "00019359" "70" "1244" "0" "1244" "0" "c.1244G>C" "r.(?)" "p.(Gly415Ala)" "" "0001068975" "00019359" "70" "1197" "0" "1198" "0" "c.1197_1198delinsT" "r.(?)" "p.(Gly401AlafsTer88)" "" "0001069568" "00019359" "70" "940" "0" "940" "0" "c.940G>A" "r.(?)" "p.(Val314Met)" "" "0001070059" "00019359" "50" "806" "0" "806" "0" "c.806A>G" "r.(?)" "p.(Tyr269Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 51 "{{screeningid}}" "{{variantid}}" "0000051443" "0000080492" "0000051444" "0000080493" "0000051447" "0000080495" "0000051448" "0000080496" "0000295762" "0000652451" "0000387740" "0000815874" "0000387741" "0000815876" "0000387742" "0000815878" "0000387745" "0000815882" "0000387745" "0000815883" "0000387746" "0000815884" "0000387746" "0000815901" "0000387747" "0000815885" "0000387747" "0000815902" "0000387748" "0000815886" "0000387748" "0000815903" "0000387749" "0000815887" "0000387749" "0000815904" "0000387750" "0000815888" "0000387751" "0000815889" "0000387752" "0000815890" "0000387752" "0000815905" "0000387753" "0000815891" "0000387754" "0000815892" "0000387754" "0000815906" "0000387755" "0000815893" "0000387755" "0000815907" "0000387756" "0000815894" "0000387756" "0000815908" "0000387757" "0000815895" "0000387757" "0000815909" "0000387758" "0000815896" "0000387759" "0000815897" "0000387760" "0000815898" "0000387761" "0000815899" "0000387761" "0000815910" "0000387762" "0000815900" "0000387762" "0000815911" "0000387763" "0000815912" "0000387763" "0000815913" "0000471047" "0001059169" "0000471048" "0001059170" "0000471049" "0001059171" "0000471050" "0001059172" "0000471051" "0001059173" "0000471052" "0001059174" "0000471053" "0001059175" "0000471054" "0001059176" "0000474577" "0001068975" "0000474577" "0001070059" "0000475172" "0001069568"