### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = SBF2)
# 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}}"
"SBF2" "SET binding factor 2" "11" "p15.3" "unknown" "LRG_267" "UD_132118333705" "" "https://www.LOVD.nl/SBF2" "" "1" "2135" "81846" "607697" "1" "1" "1" "1" "This database is one of the gene variant databases from the:![](\"docs/LOVD_LMDp-logo.png\")
.\r\nVariants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB. All variants submitted here will be shared with the IPNMDB." "" "g" "https://databases.lovd.nl/shared/refseq/SBF2_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00001" "2012-05-23 00:00:00" "00006" "2017-12-28 10:33:09" "00000" "2025-11-01 13:22:20"
## 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}}"
"00018432" "SBF2" "SET binding factor 2" "001" "NM_030962.3" "" "NP_112224.1" "" "" "" "-138" "7301" "5550" "10315754" "9800214" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 6
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"02518" "CMT4B2" "Charcot-Marie-Tooth disease, type 4B2 (CMT-4B2)" "AR" "604563" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26"
"05113" "CMT" "Charcot-Marie-Tooth disease (CMT)" "" "" "" "" "" "00006" "2016-01-11 01:40:57" "" ""
"05383" "HSAN" "neuropathy, sensory and autonomic, hereditary (HSAN)" "" "" "" "" "" "00006" "2018-01-27 17:13:02" "" ""
"05384" "neuropathy" "neuropathy" "" "" "" "" "" "00006" "2018-01-27 20:34:06" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"SBF2" "02518"
## Individuals ## Do not remove or alter this header ##
## Count = 45
"{{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}}"
"00036762" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036763" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036764" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036765" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036766" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036767" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036768" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036769" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036770" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036771" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036772" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036773" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036774" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036775" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036776" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036777" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036778" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036779" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036780" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036781" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036782" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00151954" "" "" "" "1" "" "00006" "{PMID:Hirano 2004:15304601}" "" "" "" "" "" "0" "" "" "" ""
"00151955" "" "" "" "1" "" "00006" "{PMID:Baets 2011:21840889}" "" "" "" "" "" "0" "" "" "" ""
"00151956" "" "" "" "1" "" "00006" "{PMID:Azzedine 2003:12687498}" "" "" "" "" "" "0" "" "" "" ""
"00151957" "" "" "" "1" "" "00006" "{PMID:Azzedine 2003:12687498}" "" "" "" "" "" "0" "" "" "" ""
"00151958" "" "" "" "1" "" "00006" "{PMID:Baets 2011:21840889}" "" "" "" "" "" "0" "" "" "" ""
"00151959" "" "" "" "1" "" "00006" "{PMID:Baets 2011:21840889}" "" "" "" "" "" "0" "" "" "" ""
"00151960" "" "" "" "1" "" "00006" "{PMID:Baets 2011:21840889}" "" "" "" "" "" "0" "" "" "" ""
"00290566" "" "" "" "10" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00300090" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00300091" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00300092" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00300093" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00385481" "" "" "" "1" "" "00000" "{PMID:Lenassi 2020:31848469}" "retrospective analysis" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "15022168"
"00397843" "" "" "" "1" "" "04212" "{PMID:Lassuthova 2018:30028002}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "likely" "Turkey" ">22y" "0" "" "" "" "FamAPatII:1"
"00397844" "" "" "" "2" "" "04212" "{PMID:Lassuthova 2018:30028002}" "2-generation family, 2 affected (brother/sister), unaffected heterozygous carrier parents" "F" "no" "Germany" "" "0" "" "" "" "FamBPatII:1"
"00397845" "" "" "00397844" "1" "" "04212" "{PMID:Lassuthova 2018:3002800}" "brother" "M" "no" "Germany" ">11y" "0" "" "" "" "FamBPatII:2"
"00398320" "" "" "" "2" "" "04212" "{PMID:Lassuthova 2018:30028002}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier mother" "F" "likely" "Turkey" ">12y" "0" "" "" "" "FamCPatII:1"
"00398498" "" "" "" "2" "" "04212" "{PMID:Lassuthova 2018:30028002}" "2-generation family, 2 affected (brother/sister), unaffected parents" "F" "yes" "India" ">43y" "0" "" "" "" "FamDPatII:1"
"00398499" "" "" "" "3" "" "04212" "{PMID:Lassuthova 2018:30028002}" "2-generation family, 3 affected sibs (2F, M), unaffected parents" "M" "likely" "" ">18y" "0" "" "" "Kurdistan" "FamEPatII:1"
"00398500" "" "" "00398499" "1" "" "04212" "{PMID:Lassuthova 2018:30028002}" "sister" "F" "likely" "" ">16y" "0" "" "" "Kurdistan" "FamEPatII:2"
"00398501" "" "" "00398499" "1" "" "04212" "{PMID:Lassuthova 2018:30028002}" "sister" "F" "likely" "" ">03y" "0" "" "" "Kurdistan" "FamEPatII:3"
"00398502" "" "" "" "1" "" "04212" "{PMID:Lassuthova 2018:30028002}" "2-generation family, 1 affected, unaffected heterozygous carrier father/non-carrier mother" "M" "no" "Czech Republic" ">35y" "0" "" "" "" "FamFPatII:1"
"00398510" "" "" "" "1" "" "04212" "{PMID:Lassuthova 2018:30028002}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "no" "Czech Republic" ">07y" "0" "" "" "" "FamGPatII:1"
"00446735" "" "" "" "1" "" "01741" "" "" "F" "" "Germany" "" "" "" "" "" ""
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 24
"{{individualid}}" "{{diseaseid}}"
"00151954" "02518"
"00151955" "05383"
"00151956" "02518"
"00151957" "02518"
"00151958" "05383"
"00151959" "05383"
"00151960" "05383"
"00290566" "00198"
"00300090" "05113"
"00300091" "05113"
"00300092" "05113"
"00300093" "05113"
"00385481" "04214"
"00397843" "05113"
"00397844" "05113"
"00397845" "05113"
"00398320" "05113"
"00398498" "05113"
"00398499" "05113"
"00398500" "05113"
"00398501" "05113"
"00398502" "05113"
"00398510" "05113"
"00446735" "05384"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 02518, 04214, 05113, 05383, 05384
## Count = 23
"{{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}}"
"0000124317" "02518" "00151954" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT-4B2" "Charcot-Marie-Tooth disease" ""
"0000124318" "05383" "00151955" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT-4B2" "hereditary motor & sensory neuropathy" ""
"0000124319" "02518" "00151956" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT-4B2" "Charcot-Marie-Tooth disease" ""
"0000124320" "02518" "00151957" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT-4B2" "Charcot-Marie-Tooth disease" ""
"0000124321" "05383" "00151958" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT-4B2" "hereditary motor & sensory neuropathy" ""
"0000124322" "05383" "00151959" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT-4B2" "hereditary motor & sensory neuropathy" ""
"0000124323" "05383" "00151960" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT-4B2" "hereditary motor & sensory neuropathy" ""
"0000227411" "05113" "00300090" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "CMT1" ""
"0000227412" "05113" "00300091" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "CMT1" ""
"0000227413" "05113" "00300092" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "CMT1" ""
"0000227414" "05113" "00300093" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "CMT1" ""
"0000279276" "04214" "00385481" "00000" "Familial, autosomal recessive" "" "" "<1y" "" "" "" "" "" "" "" "bilateral anterior segment dysgenesis (ASD) including congenital glaucoma" "congenital glaucoma" ""
"0000290970" "05113" "00397843" "04212" "Familial, autosomal recessive" "22y" "6m-ocular disease; glaucoma (HP:0000501); distal lower limbs muscle weakness (HP:0009053); hand muscle atrophy-UL (HP:0009130); muscle atrophy, LL, distal (HP:0008944); hammertoe-foot deformity (HP:0001765); claw-hand deformities (HP:0001171); increased deep tendon reflexes-UL (HP:0001347); no abnormal central sensory function (-HP:0011730); scoliosis (HP:0002650)" "00y06m" "07y" "Foot deformity (HP:0001765)" "" "" "" "" "" "CMT4B2" "Charcot-Marie-Tooth disease" ""
"0000290971" "05113" "00397844" "04212" "Familial, autosomal recessive" "15y" "No glaucoma (-HP:0000501); distal lower limbs muscle weakness (HP:0009053); hand muscle atrophy-UL (HP:0009130); lower limb muscle atrophy-feet/calves (HP:0008956); foot deformity (HP:0001760); no hand deformities (-HP:0001155); absent deep tendon reflexes (HP:0001284); steppage gait (HP:0003376)" "" ">06y" "Steppage gait (HP:0003376)" "" "" "" "" "" "CMT4B2" "Charcot-Marie-Tooth disease" ""
"0000290972" "05113" "00397845" "04212" "Familial, autosomal recessive" "11y" "No glaucoma (-HP:0000501); distal lower limbs muscle weakness (HP:0009053); hand muscle atrophy-UL (HP:0009130); lower limb muscle atrophy-feet/calves (HP:0008956); foot deformity (HP:0001760); hammertoe (HP:0001765); no hand deformities (-HP:0001155); walks indepently-stumbles frequenly; absent deep tendon reflexes (HP:0001284); no scoliosis (-HP:0002650); waddling gait (HP:0002515)" "" "06y" "Waddling gait (HP:0002515); hammertoe (HP:0001765)" "" "" "" "" "" "CMT4B2" "Charcot-Marie-Tooth disease" ""
"0000291443" "05113" "00398320" "04212" "Familial, autosomal recessive" "" "No glaucoma (-HP:0000501); \r\n\r\nDelayed early motor milestones (HP:0001270); 2y-independent walking; distal muscle weakness (HP:0002460); muscle wasting (HP:0003202); distal upper limb muscle weakness (HP:00008959); distal lower limb muscle weakness (HP:0009053); distal upper limb muscle atrophy-hands (HP:0007149); \r\n\r\nfoot deformity (HP:0001760); pes enquines \r\n(HP:0001762); claw hands (HP:0001171); increased deep tendon reflexes (HP:0001374); steppage gait (HP:0003376); no scoliosis (-HP:0002650)" "07y" "12y" "Distal muscle weakness (HP:0002460); muscle wasting (HP:0003202)" "" "" "" "" "" "CMT4B2" "Charcot-Marie-Tooth disease" ""
"0000291625" "05113" "00398498" "04212" "Familial, autosomal recessive" "43y" "No glaucoma (-HP:0000501); \r\n\r\n distal lower limb muscle weakness (HP:0009053); UL-hand muscle atrophy (HP:0009130); muscle atrophy, lower limb, distal (HP:0008944); pes enquines (HP:0001762); no hand deformities (-HP:0001155); no scoliosis (-HP:0002650)" "" "12y" "Leg-muscle weakness (HP:0001324)" "" "" "" "" "" "CMT4B2" "Charcot-Marie-Tooth disease" ""
"0000291626" "05113" "00398499" "04212" "Familial, autosomal recessive" "18y" "Birth-ocular disease; glaucoma (HP:0000501); 3/4y-foot deformity (HP:000160); gait disturbance (HP:0001288); \r\n\r\n distal lower limb muscle weakness (HP:0009053); no UL-hand muscle atrophy (-HP:0009130); muscle atrophy, lower limb, distal (HP:0008944); pes cavus (HP:0001761); 11y- hammertoe (HP:0001765); no scoliosis (-HP:0002650)" "" "03y" "3/4y-foot deformity (HP:000160); gait disturbance (HP:0001288)" "" "" "" "" "" "CMT4B2" "Charcot-Marie-Tooth disease" ""
"0000291627" "05113" "00398500" "04212" "Familial, autosomal recessive" "16y" "Birth-ocular disease; glaucoma (HP:0000501); 12y-hammertoe (HP:0001765); distal lower limb muscle weakness (HP:0009053); no UL-hand muscle atrophy (-HP:0009130); no muscle atrophy, lower limb, distal (-HP:0008944); pes cavus (HP:0001761); no scoliosis (-HP:0002650)" "" "12y" "hammertoe (HP:0001765)" "" "" "" "" "" "CMT4B2" "Charcot-Marie-Tooth disease" ""
"0000291628" "05113" "00398501" "04212" "Familial, autosomal recessive" "03y" "2m-ocular disease; glaucoma (HP:0000501); asymptomatic" "" "" "asymptomatic" "" "" "" "" "" "CMT4B2" "Charcot-Marie-Tooth disease" ""
"0000291629" "05113" "00398502" "04212" "Familial, autosomal recessive" "35y" "32y-ocular disease; increased IOP (HP:0007906); 3y-footdrop (HP:0009027); leg-distal muscle weakness (HP:0002460); distal upper limb muscle weakness (HP:0008959); distal lower limb muscle weakness (HP:0009053); UL-hand muscle atrophy (HP:0009130); feet-upper limb muscle atrophy; 23y-pes cavovarus; claw hands (HP:0001171); increased deep tendon reflexes (HP:0001347); gait disturbance(HP:0001288); hypophonia (HP:0001621)" "03y" "03y" "footdrop (HP:0009027); leg-distal muscle weakness (HP:0002460" "" "" "" "" "" "CMT4B2" "Charcot-Marie-Tooth disease" ""
"0000291637" "05113" "00398510" "04212" "Familial, autosomal recessive" "07y" "Birth-ocular disease; glaucoma (HP:000501); 10y-foot deformity (HP:0001760); distal lower limb muscle weakness (HP:0009053); UL-hand muscle atrophy (HP:0009130); feet-upper limb muscle atrophy; 12y-pes cavovarus; no claw hands (-HP:0001171)" "" "10y" "Foot deformity (HP:0001760)" "" "" "" "" "" "CMT4B2" "Charcot-Marie-Tooth disease" ""
"0000335937" "05384" "00446735" "01741" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
## Screenings ## Do not remove or alter this header ##
## Count = 45
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000036832" "00036762" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036833" "00036763" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036834" "00036764" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036835" "00036765" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036836" "00036766" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036837" "00036767" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036838" "00036768" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036839" "00036769" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036840" "00036770" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036841" "00036771" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036842" "00036772" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036843" "00036773" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036844" "00036774" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036845" "00036775" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036846" "00036776" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036847" "00036777" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036848" "00036778" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036849" "00036779" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036850" "00036780" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036851" "00036781" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036852" "00036782" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000152811" "00151954" "1" "00006" "00006" "2012-11-07 12:04:00" "" "" "SEQ" "DNA" "" ""
"0000152812" "00151955" "1" "00006" "00006" "2012-11-07 12:04:00" "" "" "SEQ" "DNA" "" ""
"0000152813" "00151956" "1" "00006" "00006" "2012-11-07 12:04:00" "" "" "SEQ" "DNA" "" ""
"0000152814" "00151957" "1" "00006" "00006" "2012-11-07 12:04:00" "" "" "SEQ" "DNA" "" ""
"0000152815" "00151958" "1" "00006" "00006" "2012-11-07 12:04:00" "" "" "SEQ" "DNA" "" ""
"0000152816" "00151959" "1" "00006" "00006" "2012-11-07 12:04:00" "" "" "SEQ" "DNA" "" ""
"0000152817" "00151960" "1" "00006" "00006" "2012-11-07 12:04:00" "" "" "SEQ" "DNA" "" ""
"0000291734" "00290566" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000301206" "00300090" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel"
"0000301207" "00300091" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel"
"0000301208" "00300092" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel"
"0000301209" "00300093" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel"
"0000386710" "00385481" "1" "00000" "03840" "2021-10-12 17:40:23" "" "" "SEQ-NG" "DNA" "blood" "45 genes panel tested"
"0000399085" "00397843" "1" "04212" "04212" "2021-12-29 13:19:40" "00006" "2022-01-06 15:21:58" "SEQ" "DNA" "" ""
"0000399086" "00397844" "1" "04212" "04212" "2021-12-29 13:28:46" "00006" "2022-01-06 15:08:05" "SEQ" "DNA" "" ""
"0000399087" "00397845" "1" "04212" "04212" "2021-12-29 13:44:37" "00006" "2022-01-06 15:21:11" "SEQ" "DNA" "" ""
"0000399566" "00398320" "1" "04212" "04212" "2022-01-04 12:05:32" "00006" "2022-01-06 15:21:11" "SEQ" "DNA" "" ""
"0000399744" "00398498" "1" "04212" "04212" "2022-01-05 15:33:47" "00006" "2022-01-06 15:21:11" "SEQ" "DNA" "" ""
"0000399745" "00398499" "1" "04212" "04212" "2022-01-05 15:41:42" "00006" "2022-01-06 15:21:11" "SEQ" "DNA" "" ""
"0000399746" "00398500" "1" "04212" "04212" "2022-01-05 15:46:10" "00006" "2022-01-06 15:21:11" "SEQ" "DNA" "" ""
"0000399747" "00398501" "1" "04212" "04212" "2022-01-05 15:53:13" "00006" "2022-01-06 15:21:11" "SEQ" "DNA" "" ""
"0000399748" "00398502" "1" "04212" "04212" "2022-01-05 15:59:26" "00006" "2022-01-06 15:44:50" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000399756" "00398510" "1" "04212" "04212" "2022-01-05 16:03:31" "00006" "2022-01-06 15:21:11" "SEQ" "DNA" "" ""
"0000448310" "00446735" "1" "01741" "01741" "2024-01-23 08:54:52" "" "" "SEQ-NG" "DNA" "" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 54
"{{screeningid}}" "{{geneid}}"
"0000036832" "SBF2"
"0000036833" "SBF2"
"0000036834" "SBF2"
"0000036835" "SBF2"
"0000036836" "SBF2"
"0000036837" "SBF2"
"0000036838" "SBF2"
"0000036839" "SBF2"
"0000036840" "SBF2"
"0000036841" "SBF2"
"0000036842" "SBF2"
"0000036843" "SBF2"
"0000036844" "SBF2"
"0000036845" "SBF2"
"0000036846" "SBF2"
"0000036847" "SBF2"
"0000036848" "SBF2"
"0000036849" "SBF2"
"0000036850" "SBF2"
"0000036851" "SBF2"
"0000036852" "SBF2"
"0000152811" "SBF2"
"0000152812" "SBF2"
"0000152813" "SBF2"
"0000152814" "SBF2"
"0000152815" "SBF2"
"0000152816" "SBF2"
"0000152817" "SBF2"
"0000301206" "SBF2"
"0000301207" "SBF2"
"0000301208" "SBF2"
"0000301209" "SBF2"
"0000386710" "SBF2"
"0000399085" "SBF2"
"0000399086" "SBF2"
"0000399087" "SBF2"
"0000399566" "SBF2"
"0000399744" "SBF2"
"0000399745" "SBF2"
"0000399746" "SBF2"
"0000399747" "SBF2"
"0000399748" "SBF2"
"0000399756" "SBF2"
"0000448310" "GDAP1"
"0000448310" "GJB1"
"0000448310" "HINT1"
"0000448310" "HSPB1"
"0000448310" "HSPB8"
"0000448310" "MFN2"
"0000448310" "MPZ"
"0000448310" "PMP22"
"0000448310" "SBF2"
"0000448310" "SH3TC2"
"0000448310" "SORD"
## 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 = 121
"{{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}}"
"0000063957" "1" "10" "11" "9861009" "9861009" "subst" "0.772931" "01164" "SBF2_000011" "g.9861009G>A" "" "" "" "" "" "Germline" "" "rs7483882" "0" "" "" "g.9839462G>A" "" "benign" ""
"0000063958" "1" "10" "11" "9830595" "9830595" "subst" "0.429494" "01164" "SBF2_000045" "g.9830595G>A" "" "" "" "" "" "Germline" "" "rs11042500" "0" "" "" "g.9809048G>A" "" "benign" ""
"0000063959" "1" "10" "11" "9853777" "9853777" "subst" "0.0968784" "01164" "SBF2_000046" "g.9853777G>C" "" "" "" "" "" "Germline" "" "rs12574508" "0" "" "" "g.9832230G>C" "" "benign" ""
"0000063960" "1" "10" "11" "9812236" "9812236" "subst" "0.861767" "01164" "SBF2_000044" "g.9812236G>A" "" "" "" "" "" "Germline" "" "rs2645029" "0" "" "" "g.9790689G>A" "" "benign" ""
"0000063961" "1" "10" "11" "9806924" "9806925" "ins" "0" "01164" "SBF2_000043" "g.9806924_9806925insCTGA" "" "" "" "" "" "Germline" "" "rs72443389" "0" "" "" "g.9785377_9785378insCTGA" "" "benign" ""
"0000063962" "1" "10" "11" "9879838" "9879838" "subst" "0.0778688" "01164" "SBF2_000016" "g.9879838C>T" "" "" "" "" "" "Germline" "" "rs7102464" "0" "" "" "g.9858291C>T" "" "benign" ""
"0000063963" "1" "50" "11" "9864125" "9864125" "subst" "0.00160782" "01164" "SBF2_000012" "g.9864125A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.9842578A>G" "" "VUS" ""
"0000063964" "1" "10" "11" "9874505" "9874505" "subst" "0" "01164" "SBF2_000013" "g.9874505T>G" "" "" "" "" "" "Germline" "" "rs7122293" "0" "" "" "g.9852958T>G" "" "benign" ""
"0000063965" "1" "10" "11" "10014371" "10014372" "dup" "0" "01164" "SBF2_000021" "g.10014371_10014372dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.9992824_9992825dup" "" "benign" ""
"0000063966" "1" "50" "11" "10215321" "10215321" "subst" "0" "01164" "SBF2_000048" "g.10215321T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10193774T>C" "" "VUS" ""
"0000063967" "1" "10" "11" "10024311" "10024311" "subst" "0" "01164" "SBF2_000003" "g.10024311A>G" "" "" "" "" "" "Germline" "" "rs10500716" "0" "" "" "g.10002764A>G" "" "benign" ""
"0000063968" "1" "10" "11" "10014463" "10014463" "subst" "0" "01164" "SBF2_000018" "g.10014463G>A" "" "" "" "" "" "Germline" "" "rs78399419" "0" "" "" "g.9992916G>A" "" "benign" ""
"0000063969" "1" "10" "11" "10022585" "10022585" "subst" "0.185426" "01164" "SBF2_000003" "g.10022585A>T" "" "" "" "" "" "Germline" "" "rs7128234" "0" "" "" "g.10001038A>T" "" "benign" ""
"0000063970" "1" "10" "11" "10050157" "10050157" "subst" "0" "01164" "SBF2_000042" "g.10050157T>A" "" "" "" "" "" "Germline" "" "rs10840344" "0" "" "" "g.10028610T>A" "" "benign" ""
"0000063971" "1" "10" "11" "10215598" "10215598" "subst" "0" "01164" "SBF2_000047" "g.10215598C>T" "" "" "" "" "" "Germline" "" "rs4910097" "0" "" "" "g.10194051C>T" "" "benign" ""
"0000063972" "1" "10" "11" "10014462" "10014462" "subst" "0" "01164" "SBF2_000049" "g.10014462C>A" "" "" "" "" "" "Germline" "" "rs56223901" "0" "" "" "g.9992915C>A" "" "benign" ""
"0000063973" "1" "10" "11" "10010964" "10010964" "subst" "0" "01164" "SBF2_000020" "g.10010964A>C" "" "" "" "" "" "Germline" "" "rs11826263" "0" "" "" "g.9989417A>C" "" "benign" ""
"0000063974" "1" "10" "11" "9917620" "9917620" "subst" "0" "01164" "SBF2_000017" "g.9917620G>C" "" "" "" "" "" "Germline" "" "rs491007" "0" "" "" "g.9896073G>C" "" "benign" ""
"0000063975" "1" "10" "11" "10019879" "10019879" "subst" "0.0744426" "01164" "SBF2_000019" "g.10019879G>A" "" "" "" "" "" "Germline" "" "rs16907355" "0" "" "" "g.9998332G>A" "" "benign" ""
"0000063976" "1" "10" "11" "9875353" "9875353" "subst" "0" "01164" "SBF2_000014" "g.9875353G>T" "" "" "" "" "" "Germline" "" "rs375686" "0" "" "" "g.9853806G>T" "" "benign" ""
"0000063977" "1" "50" "11" "9878352" "9878352" "del" "0" "01164" "SBF2_000015" "g.9878352del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.9856805del" "" "VUS" ""
"0000246992" "0" "10" "11" "10022585" "10022585" "subst" "0.185426" "02330" "SBF2_000003" "g.10022585A>T" "" "" "" "SBF2(NM_030962.4):c.753-16T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10001038A>T" "" "benign" ""
"0000247039" "0" "10" "11" "9809300" "9809300" "subst" "0.0432373" "02330" "SBF2_000026" "g.9809300A>G" "" "" "" "SBF2(NM_030962.4):c.4933-15T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9787753A>G" "" "benign" ""
"0000248444" "0" "10" "11" "10022585" "10022585" "subst" "0.185426" "02325" "SBF2_000003" "g.10022585A>T" "" "" "" "SBF2(NM_030962.4):c.753-16T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10001038A>T" "" "benign" ""
"0000295295" "0" "10" "11" "9801925" "9801925" "subst" "0.307426" "02330" "SBF2_000022" "g.9801925T>G" "" "" "" "SBF2(NM_030962.4):c.*40A>C, SBF2-AS1(NR_036485.1):n.211+21875T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9780378T>G" "" "benign" ""
"0000295296" "0" "50" "11" "10064509" "10064509" "subst" "0" "02330" "SBF2_000041" "g.10064509C>T" "" "" "" "SBF2(NM_030962.4):c.161G>A (p.W54*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10042962C>T" "" "VUS" ""
"0000295297" "0" "10" "11" "9879838" "9879838" "subst" "0.0778688" "02330" "SBF2_000016" "g.9879838C>T" "" "" "" "SBF2(NM_030962.4):c.2035G>A (p.E679K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9858291C>T" "" "benign" ""
"0000295298" "0" "50" "11" "9878204" "9878204" "subst" "3.24931E-5" "02330" "SBF2_000038" "g.9878204G>A" "" "" "" "SBF2(NM_030962.4):c.2164C>T (p.R722C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9856657G>A" "" "VUS" ""
"0000295299" "0" "30" "11" "9878045" "9878045" "subst" "0.00318438" "02330" "SBF2_000037" "g.9878045C>T" "" "" "" "SBF2(NM_030962.3):c.2323G>A (p.G775S), SBF2(NM_030962.4):c.2323G>A (p.G775S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9856498C>T" "" "likely benign" ""
"0000295301" "0" "10" "11" "9868638" "9868638" "subst" "3.25127E-5" "02330" "SBF2_000035" "g.9868638T>C" "" "" "" "SBF2(NM_030962.4):c.2807-8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9847091T>C" "" "benign" ""
"0000295302" "0" "90" "11" "9868562" "9868562" "subst" "0" "02330" "SBF2_000006" "g.9868562G>A" "" "" "" "SBF2(NM_030962.4):c.2875C>T (p.Q959*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9847015G>A" "" "pathogenic" ""
"0000295303" "0" "10" "11" "9861208" "9861208" "subst" "0.0205195" "02330" "SBF2_000033" "g.9861208G>C" "" "" "" "SBF2(NM_030962.3):c.3292C>G (p.L1098V), SBF2(NM_030962.4):c.3292C>G (p.L1098V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9839661G>C" "" "benign" ""
"0000295304" "0" "90" "11" "9853837" "9853837" "subst" "4.06075E-6" "02330" "SBF2_000007" "g.9853837G>A" "" "" "" "SBF2(NM_030962.4):c.3586C>T (p.R1196*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9832290G>A" "" "pathogenic" ""
"0000295305" "0" "10" "11" "9853777" "9853777" "subst" "0.0968784" "02330" "SBF2_000046" "g.9853777G>C" "" "" "" "SBF2(NM_030962.4):c.3646C>G (p.Q1216E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9832230G>C" "" "benign" ""
"0000295306" "0" "50" "11" "10052633" "10052633" "subst" "4.06438E-6" "02330" "SBF2_000040" "g.10052633C>T" "" "" "" "SBF2(NM_030962.4):c.364G>A (p.V122M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10031086C>T" "" "VUS" ""
"0000295307" "0" "10" "11" "9838591" "9838591" "subst" "0.018929" "02330" "SBF2_000030" "g.9838591G>A" "" "" "" "SBF2(NM_030962.4):c.3794-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9817044G>A" "" "benign" ""
"0000295308" "0" "50" "11" "9838499" "9838499" "subst" "6.90585E-5" "02330" "SBF2_000029" "g.9838499C>T" "" "" "" "SBF2(NM_030962.4):c.3866G>A (p.R1289Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9816952C>T" "" "VUS" ""
"0000295309" "0" "50" "11" "10051403" "10051403" "subst" "4.06934E-6" "02330" "SBF2_000039" "g.10051403T>C" "" "" "" "SBF2(NM_030962.4):c.422A>G (p.Y141C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10029856T>C" "" "VUS" ""
"0000295310" "0" "90" "11" "9810714" "9810714" "subst" "0" "02330" "SBF2_000027" "g.9810714C>T" "" "" "" "SBF2(NM_030962.4):c.4874G>A (p.W1625*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9789167C>T" "" "pathogenic" ""
"0000295311" "0" "50" "11" "9809201" "9809203" "del" "0" "02330" "SBF2_000025" "g.9809201_9809203del" "" "" "" "SBF2(NM_030962.3):c.5020_5022del (p.(Glu1674del)), SBF2(NM_030962.4):c.5020_5022delGAA (p.E1674del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9787654_9787656del" "" "VUS" ""
"0000295312" "0" "30" "11" "9809181" "9809181" "subst" "0.00043456" "02330" "SBF2_000024" "g.9809181G>A" "" "" "" "SBF2(NM_030962.3):c.5037C>T (p.(=)), SBF2(NM_030962.4):c.5037C>T (p.R1679=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9787634G>A" "" "likely benign" ""
"0000295313" "0" "10" "11" "10019879" "10019879" "subst" "0.0744426" "02330" "SBF2_000019" "g.10019879G>A" "" "" "" "SBF2(NM_030962.4):c.909C>T (p.P303=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9998332G>A" "" "benign" ""
"0000295315" "0" "90" "11" "9829546" "9829546" "subst" "0" "02330" "SBF2_000028" "g.9829546C>G" "" "" "" "SBF2-AS1(NR_036485.1):n.363C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9807999C>G" "" "pathogenic" ""
"0000301651" "0" "30" "11" "9861208" "9861208" "subst" "0.0205195" "02326" "SBF2_000033" "g.9861208G>C" "" "" "" "SBF2(NM_030962.3):c.3292C>G (p.L1098V), SBF2(NM_030962.4):c.3292C>G (p.L1098V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9839661G>C" "" "likely benign" ""
"0000301652" "0" "30" "11" "9850966" "9850966" "subst" "0" "02326" "SBF2_000031" "g.9850966C>A" "" "" "" "SBF2(NM_030962.3):c.3730G>T (p.V1244F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9829419C>A" "" "likely benign" ""
"0000351646" "0" "90" "11" "9990029" "9990029" "subst" "0" "00006" "SBF2_000004" "g.9990029G>A" "" "{PMID:Hirano 2004:15304601}" "" "1459C>T" "" "Germline" "" "" "0" "" "" "g.9968482G>A" "" "pathogenic" ""
"0000351647" "0" "90" "11" "9989951" "9989951" "subst" "0" "00006" "SBF2_000005" "g.9989951G>A" "" "{PMID:Baets 2011:21840889}" "" "1537C>T" "" "Germline" "" "" "0" "" "" "g.9968404G>A" "" "pathogenic" ""
"0000351648" "0" "90" "11" "9868562" "9868562" "subst" "0" "00006" "SBF2_000006" "g.9868562G>A" "" "{PMID:Azzedine 2003:12687498}" "" "2875C>T" "" "Germline" "" "" "0" "" "" "g.9847015G>A" "" "pathogenic" ""
"0000351649" "0" "90" "11" "9853837" "9853837" "subst" "4.06075E-6" "00006" "SBF2_000007" "g.9853837G>A" "" "{PMID:Azzedine 2003:12687498}" "" "3586C>T" "" "Germline" "" "" "0" "" "" "g.9832290G>A" "" "pathogenic" ""
"0000351650" "0" "90" "11" "9838421" "9838421" "del" "0" "00006" "SBF2_000008" "g.9838421del" "" "{PMID:Baets 2011:21840889}" "" "3946delC" "" "Germline" "" "" "0" "" "" "g.9816874del" "" "pathogenic" ""
"0000351651" "0" "90" "11" "9829691" "9829691" "subst" "0" "00006" "SBF2_000009" "g.9829691C>G" "" "{PMID:Baets 2011:21840889}" "" "4299G>C" "" "Germline" "" "" "0" "" "" "g.9808144C>G" "" "pathogenic" ""
"0000351652" "0" "90" "11" "9810806" "9810806" "subst" "4.06085E-6" "00006" "SBF2_000010" "g.9810806A>C" "" "{PMID:Baets 2011:21840889}" "" "4782T>G" "" "Germline" "" "" "0" "" "" "g.9789259A>C" "" "pathogenic" ""
"0000541755" "0" "10" "11" "10014085" "10014085" "subst" "0.00753944" "02330" "SBF2_000059" "g.10014085T>C" "" "" "" "SBF2(NM_030962.4):c.1173A>G (p.A391=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9992538T>C" "" "benign" ""
"0000541756" "0" "50" "11" "10014538" "10014538" "subst" "8.17628E-6" "02330" "SBF2_000060" "g.10014538T>C" "" "" "" "SBF2(NM_030962.4):c.1166A>G (p.K389R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9992991T>C" "" "VUS" ""
"0000541758" "0" "10" "11" "10051295" "10051295" "subst" "0.00734797" "02330" "SBF2_000061" "g.10051295C>G" "" "" "" "SBF2(NM_030962.4):c.513+17G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10029748C>G" "" "benign" ""
"0000541760" "0" "10" "11" "10064550" "10064550" "dup" "0" "02330" "SBF2_000062" "g.10064550dup" "" "" "" "SBF2(NM_030962.3):c.142-14dupT, SBF2(NM_030962.4):c.142-14dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10043003dup" "" "benign" ""
"0000546163" "0" "50" "11" "9809181" "9809181" "subst" "0.00043456" "01804" "SBF2_000024" "g.9809181G>A" "" "" "" "SBF2(NM_030962.3):c.5037C>T (p.(=)), SBF2(NM_030962.4):c.5037C>T (p.R1679=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9787634G>A" "" "VUS" ""
"0000546164" "0" "10" "11" "9812236" "9812236" "subst" "0.861767" "02330" "SBF2_000044" "g.9812236G>A" "" "" "" "SBF2(NM_030962.4):c.4571-6C>T, SBF2-AS1(NR_036485.1):n.212-17159G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9790689G>A" "" "benign" ""
"0000546165" "0" "10" "11" "9812236" "9812236" "subst" "0.861767" "02325" "SBF2_000044" "g.9812236G>A" "" "" "" "SBF2(NM_030962.4):c.4571-6C>T, SBF2-AS1(NR_036485.1):n.212-17159G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9790689G>A" "" "benign" ""
"0000546166" "0" "50" "11" "9834169" "9834169" "subst" "4.06134E-6" "02330" "SBF2_000050" "g.9834169C>A" "" "" "" "SBF2(NM_030962.4):c.4065G>T (p.K1355N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9812622C>A" "" "VUS" ""
"0000546167" "0" "30" "11" "9853851" "9853851" "subst" "0" "01804" "SBF2_000051" "g.9853851C>T" "" "" "" "SBF2(NM_030962.3):c.3572G>A (p.(Gly1191Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9832304C>T" "" "likely benign" ""
"0000546168" "0" "10" "11" "9864323" "9864323" "subst" "0.00380302" "02330" "SBF2_000052" "g.9864323A>G" "" "" "" "SBF2(NM_030962.4):c.3111-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9842776A>G" "" "benign" ""
"0000546169" "0" "10" "11" "9868587" "9868587" "subst" "0.00443726" "02330" "SBF2_000053" "g.9868587G>A" "" "" "" "SBF2(NM_030962.4):c.2850C>T (p.I950=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9847040G>A" "" "benign" ""
"0000546170" "0" "10" "11" "9871799" "9871802" "del" "0" "02330" "SBF2_000054" "g.9871799_9871802del" "" "" "" "SBF2(NM_030962.4):c.2611-19_2611-16delAATC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9850252_9850255del" "" "benign" ""
"0000546171" "0" "30" "11" "9871799" "9871802" "dup" "0" "02330" "SBF2_000055" "g.9871799_9871802dup" "" "" "" "SBF2(NM_030962.4):c.2611-19_2611-16dupAATC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9850252_9850255dup" "" "likely benign" ""
"0000546172" "0" "30" "11" "9878049" "9878049" "subst" "0.000194973" "02330" "SBF2_000056" "g.9878049C>T" "" "" "" "SBF2(NM_030962.4):c.2319G>A (p.A773=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9856502C>T" "" "likely benign" ""
"0000546173" "0" "30" "11" "9917526" "9917526" "subst" "2.43825E-5" "02330" "SBF2_000057" "g.9917526G>A" "" "" "" "SBF2(NM_030962.4):c.1893C>T (p.A631=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9895979G>A" "" "likely benign" ""
"0000546177" "0" "30" "11" "9989979" "9989979" "subst" "0.000223343" "02330" "SBF2_000058" "g.9989979T>C" "" "" "" "SBF2(NM_030962.4):c.1509A>G (p.E503=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9968432T>C" "" "likely benign" ""
"0000546178" "0" "90" "11" "9990029" "9990029" "subst" "0" "02330" "SBF2_000004" "g.9990029G>A" "" "" "" "SBF2(NM_030962.4):c.1459C>T (p.R487*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9968482G>A" "" "pathogenic" ""
"0000612842" "0" "50" "11" "10013967" "10013967" "subst" "0" "02330" "SBF2_000071" "g.10013967C>T" "" "" "" "SBF2(NM_030962.4):c.1291G>A (p.D431N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9992420C>T" "" "VUS" ""
"0000613789" "0" "30" "11" "9809201" "9809203" "del" "0" "01804" "SBF2_000025" "g.9809201_9809203del" "" "" "" "SBF2(NM_030962.3):c.5020_5022del (p.(Glu1674del)), SBF2(NM_030962.4):c.5020_5022delGAA (p.E1674del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9787654_9787656del" "" "likely benign" ""
"0000613790" "0" "10" "11" "9817415" "9817415" "subst" "0.0025364" "02330" "SBF2_000063" "g.9817415T>C" "" "" "" "SBF2(NM_030962.3):c.4533A>G (p.T1511=), SBF2(NM_030962.4):c.4533A>G (p.T1511=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9795868T>C" "" "benign" ""
"0000613791" "0" "30" "11" "9838488" "9838488" "subst" "0.000113741" "01943" "SBF2_000065" "g.9838488T>C" "" "" "" "SBF2(NM_030962.3):c.3877A>G (p.K1293E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9816941T>C" "" "likely benign" ""
"0000613792" "0" "30" "11" "9850884" "9850884" "subst" "4.06177E-6" "02326" "SBF2_000066" "g.9850884A>C" "" "" "" "SBF2(NM_030962.3):c.3793+19T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9829337A>C" "" "likely benign" ""
"0000613793" "0" "50" "11" "9861210" "9861210" "subst" "0.0010477" "01943" "SBF2_000067" "g.9861210G>T" "" "" "" "SBF2(NM_030962.3):c.3290C>A (p.T1097N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9839663G>T" "" "VUS" ""
"0000613794" "0" "30" "11" "9867186" "9867186" "subst" "0.000361744" "02330" "SBF2_000068" "g.9867186G>A" "" "" "" "SBF2(NM_030962.4):c.3036C>T (p.T1012=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9845639G>A" "" "likely benign" ""
"0000613795" "0" "50" "11" "9878171" "9878171" "subst" "0.000186828" "02330" "SBF2_000069" "g.9878171G>C" "" "" "" "SBF2(NM_030962.3):c.2197C>G (p.Q733E), SBF2(NM_030962.4):c.2197C>G (p.Q733E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9856624G>C" "" "VUS" ""
"0000613796" "0" "50" "11" "9879828" "9879828" "subst" "0" "02330" "SBF2_000070" "g.9879828C>T" "" "" "" "SBF2(NM_030962.4):c.2045G>A (p.R682H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9858281C>T" "" "VUS" ""
"0000648423" "1" "50" "11" "9861210" "9861210" "subst" "0.0010477" "03575" "SBF2_000067" "g.9861210G>T" "10/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 10 heterozygous, no homozygous; {DB:CLININrs141894081}" "Germline" "" "rs141894081" "0" "" "" "g.9839663G>T" "" "VUS" ""
"0000664101" "0" "70" "11" "10024236" "10024236" "subst" "0" "00006" "SBF2_000075" "g.10024236C>A" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "" "0" "" "" "g.10002689C>A" "" "likely pathogenic (recessive)" ""
"0000664102" "0" "70" "11" "9853770" "9990093" "del" "0" "00006" "SBF2_000072" "g.(9851044_9853770)_(9990093_10011043)del" "" "{PMID:Antoniadi 2015:26392352}" "" "c.1396-?_3652+?del" "" "Germline" "" "" "0" "" "" "g.(9829497_9832223)_(9968546_9989496)del" "" "likely pathogenic (recessive)" ""
"0000664103" "0" "70" "11" "9878153" "9878153" "subst" "0" "00006" "SBF2_000074" "g.9878153C>T" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "" "0" "" "" "g.9856606C>T" "" "likely pathogenic (recessive)" ""
"0000664104" "0" "70" "11" "9875086" "9875086" "subst" "0" "00006" "SBF2_000073" "g.9875086C>T" "" "{PMID:Antoniadi 2015:26392352}" "" "c.2536+1G>A" "" "Germline" "" "" "0" "" "" "g.9853539C>T" "" "likely pathogenic (recessive)" ""
"0000691222" "0" "30" "11" "9802031" "9802031" "subst" "4.49339E-5" "02330" "SBF2_000076" "g.9802031G>A" "" "" "" "SBF2(NM_030962.4):c.5484C>T (p.C1828=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000691223" "0" "30" "11" "9838546" "9838546" "subst" "0.000195146" "02326" "SBF2_000077" "g.9838546G>A" "" "" "" "SBF2(NM_030962.3):c.3819C>T (p.S1273=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000723054" "0" "50" "11" "10014580" "10014580" "subst" "1.62901E-5" "02330" "SBF2_000080" "g.10014580T>C" "" "" "" "SBF2(NM_030962.4):c.1124A>G (p.Q375R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000723777" "0" "30" "11" "9810779" "9810779" "subst" "0.000373607" "02326" "SBF2_000078" "g.9810779G>A" "" "" "" "SBF2(NM_030962.3):c.4809C>T (p.H1603=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000723778" "0" "50" "11" "9817426" "9817426" "subst" "0.000288604" "02330" "SBF2_000079" "g.9817426G>A" "" "" "" "SBF2(NM_030962.4):c.4522C>T (p.R1508C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000723779" "0" "30" "11" "9878045" "9878045" "subst" "0.00318438" "01943" "SBF2_000037" "g.9878045C>T" "" "" "" "SBF2(NM_030962.3):c.2323G>A (p.G775S), SBF2(NM_030962.4):c.2323G>A (p.G775S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000805486" "0" "30" "11" "9853991" "9853995" "del" "0" "02330" "SBF2_000081" "g.9853991_9853995del" "" "" "" "SBF2(NM_030962.4):c.3456-22_3456-18delTCTCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000805487" "0" "30" "11" "9917483" "9917483" "subst" "1.21942E-5" "02330" "SBF2_000082" "g.9917483A>G" "" "" "" "SBF2(NM_030962.4):c.1929+7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000814390" "3" "90" "11" "10215448" "10215448" "subst" "0" "00000" "SBF2_000083" "g.10215448C>T" "" "{PMID:Lenassi 2020:31848469}" "" "SBF2 c.141+1G>A hom" "homozygous" "Germline" "?" "" "0" "" "" "g.10193901C>T" "" "pathogenic" "ACMG"
"0000831403" "3" "90" "11" "9805920" "9805924" "dup" "0" "04212" "SBF2_000085" "g.9805920_9805924dup" "" "{PMID:Lassuthova 2018:30028002}" "" "5301_5302insTTTTG Asp1768fs" "" "Germline" "" "" "0" "" "" "g.9784373_9784377dup" "" "pathogenic (recessive)" ""
"0000831404" "21" "90" "11" "9874255" "9874255" "subst" "4.06663E-6" "04212" "SBF2_000086" "g.9874255G>A" "" "{PMID:Lassuthova 2018:30028002}" "" "Arg860*" "" "Germline" "" "" "0" "" "" "g.9852708G>A" "" "pathogenic (recessive)" ""
"0000831405" "11" "90" "11" "9874237" "9874237" "del" "0" "04212" "SBF2_000084" "g.9874237del" "" "{PMID:Lassuthova 2018:30028002}" "" "2596delC" "" "Germline" "" "" "0" "" "" "g.9852690del" "" "pathogenic (recessive)" ""
"0000832360" "3" "90" "11" "10064491" "10064492" "del" "0" "04212" "SBF2_000089" "g.10064491_10064492del" "" "{PMID:Lassuthova 2018:30028002}" "" "178_179delAG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000832361" "3" "90" "11" "9871698" "9871698" "subst" "0" "04212" "SBF2_000090" "g.9871698A>G" "" "{PMID:Lassuthova 2018:30028002}" "" "" "" "Germline" "yes" "" "0" "" "" "g.9850151A>G" "" "pathogenic (recessive)" ""
"0000832362" "3" "90" "11" "9871698" "9871698" "subst" "0" "04212" "SBF2_000090" "g.9871698A>G" "" "{PMID:Lassuthova 2018:30028002}" "" "" "" "Germline" "yes" "" "0" "" "" "g.9850151A>G" "" "pathogenic (recessive)" ""
"0000832363" "3" "90" "11" "9871698" "9871698" "subst" "0" "04212" "SBF2_000090" "g.9871698A>G" "" "{PMID:Lassuthova 2018:30028002}" "" "" "" "Germline" "yes" "" "0" "" "" "g.9850151A>G" "" "pathogenic (recessive)" ""
"0000832364" "11" "90" "11" "9985431" "9985431" "subst" "0" "04212" "SBF2_000091" "g.9985431T>C" "" "{PMID:Lassuthova 2018:30028002}" "" "" "" "Germline" "" "" "0" "" "" "g.9963884T>C" "" "pathogenic (recessive)" ""
"0000832374" "3" "90" "11" "10215456" "10215456" "subst" "0" "04212" "SBF2_000093" "g.10215456A>T" "" "{PMID:Lassuthova 2018:30028002}" "" "" "" "Germline" "" "" "0" "" "" "g.10193909A>T" "" "pathogenic (recessive)" ""
"0000832416" "11" "90" "11" "9874237" "9874237" "del" "0" "04212" "SBF2_000087" "g.9874237del" "" "{PMID:Lassuthova 2018:30028002}" "" "596delC" "" "Germline" "yes" "" "0" "" "" "g.9852690del" "" "pathogenic (recessive)" ""
"0000832417" "21" "90" "11" "9874255" "9874255" "subst" "4.06663E-6" "04212" "SBF2_000086" "g.9874255G>A" "" "{PMID:Lassuthova 2018:30028002}" "" "Arg860*" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000832418" "3" "90" "11" "10013967" "10013967" "subst" "0" "04212" "SBF2_000088" "g.10013967C>G" "" "{PMID:Lassuthova 2018:30028002}" "" "Asp431His" "" "Germline" "" "" "0" "" "" "g.9992420C>G" "" "pathogenic (recessive)" ""
"0000832419" "20" "90" "11" "9805974" "9805996" "del" "0" "00006" "SBF2_000092" "g.9805974_9805996del" "" "{PMID:Lassuthova 2018:30028002}" "" "5232-10_5244del" "" "De novo" "" "" "0" "" "" "g.9784427_9784449del" "" "pathogenic (recessive)" ""
"0000853222" "0" "50" "11" "9879906" "9879906" "subst" "0.000304685" "02330" "SBF2_000095" "g.9879906C>G" "" "" "" "SBF2(NM_030962.4):c.1967G>C (p.C656S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000862758" "0" "30" "11" "9830496" "9830496" "subst" "3.65458E-5" "01943" "SBF2_000094" "g.9830496A>G" "" "" "" "SBF2(NM_030962.3):c.4209T>C (p.G1403=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000889370" "0" "50" "11" "10022545" "10022545" "subst" "0.00024377" "02330" "SBF2_000097" "g.10022545C>T" "" "" "" "SBF2(NM_030962.4):c.777G>A (p.P259=, p.(Pro259=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000889371" "0" "30" "11" "10051294" "10051294" "subst" "0.000252242" "02330" "SBF2_000098" "g.10051294T>A" "" "" "" "SBF2(NM_030962.4):c.513+18A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000890223" "0" "50" "11" "9806745" "9806745" "subst" "0" "02330" "SBF2_000096" "g.9806745A>G" "" "" "" "SBF2(NM_030962.4):c.5158T>C (p.S1720P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000913384" "0" "30" "11" "10064550" "10064550" "dup" "0" "02326" "SBF2_000062" "g.10064550dup" "" "" "" "SBF2(NM_030962.3):c.142-14dupT, SBF2(NM_030962.4):c.142-14dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000913726" "0" "10" "11" "9817415" "9817415" "subst" "0.0025364" "02326" "SBF2_000063" "g.9817415T>C" "" "" "" "SBF2(NM_030962.3):c.4533A>G (p.T1511=), SBF2(NM_030962.4):c.4533A>G (p.T1511=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000929994" "0" "50" "11" "9861124" "9861124" "subst" "2.03047E-5" "02330" "SBF2_000099" "g.9861124T>A" "" "" "" "SBF2(NM_001386339.1):c.3376A>T (p.I1126L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000949817" "0" "50" "11" "9875199" "9875199" "subst" "6.90664E-5" "02330" "SBF2_000100" "g.9875199A>T" "" "" "" "SBF2(NM_001386339.1):c.2424T>A (p.N808K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000957716" "0" "50" "11" "10019933" "10019933" "subst" "0" "01741" "SBF2_000101" "g.10019933G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.9998386G>C" "" "VUS" "ACMG"
"0000966643" "0" "30" "11" "9878045" "9878045" "subst" "0.00318438" "02326" "SBF2_000037" "g.9878045C>T" "" "" "" "SBF2(NM_030962.3):c.2323G>A (p.G775S), SBF2(NM_030962.4):c.2323G>A (p.G775S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000979263" "0" "50" "11" "10022545" "10022545" "subst" "0.00024377" "01804" "SBF2_000097" "g.10022545C>T" "" "" "" "SBF2(NM_030962.4):c.777G>A (p.P259=, p.(Pro259=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001038861" "0" "30" "11" "9853756" "9853756" "subst" "0.000170654" "02326" "SBF2_000102" "g.9853756T>C" "" "" "" "SBF2(NM_030962.3):c.3652+15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001038862" "0" "30" "11" "9878171" "9878171" "subst" "0.000186828" "02326" "SBF2_000069" "g.9878171G>C" "" "" "" "SBF2(NM_030962.3):c.2197C>G (p.Q733E), SBF2(NM_030962.4):c.2197C>G (p.Q733E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001038863" "0" "50" "11" "9878267" "9878267" "subst" "4.06755E-6" "01804" "SBF2_000103" "g.9878267C>T" "" "" "" "SBF2(NM_030962.4):c.2101G>A (p.(Asp701Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001053809" "0" "50" "11" "9875173" "9875173" "subst" "2.03125E-5" "01804" "SBF2_000104" "g.9875173C>T" "" "" "" "SBF2(NM_030962.4):c.2450G>A (p.(Arg817Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
## 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 SBF2
## Count = 121
"{{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}}"
"0000063957" "00018432" "10" "3455" "36" "3455" "36" "c.3455+36C>T" "r.(=)" "p.(=)" ""
"0000063958" "00018432" "10" "4156" "-46" "4156" "-46" "c.4156-46C>T" "r.(=)" "p.(=)" ""
"0000063959" "00018432" "10" "3646" "0" "3646" "0" "c.3646C>G" "r.(?)" "p.(Gln1216Glu)" ""
"0000063960" "00018432" "10" "4571" "-6" "4571" "-6" "c.4571-6C>T" "r.(=)" "p.(=)" ""
"0000063961" "00018432" "10" "5038" "-58" "5038" "-57" "c.5038-58_5038-57insAGTC" "r.(=)" "p.(=)" ""
"0000063962" "00018432" "10" "2035" "0" "2035" "0" "c.2035G>A" "r.(?)" "p.(Glu679Lys)" ""
"0000063963" "00018432" "50" "3256" "47" "3256" "47" "c.3256+47T>C" "r.(=)" "p.(=)" ""
"0000063964" "00018432" "10" "2537" "-209" "2537" "-209" "c.2537-209A>C" "r.(=)" "p.(=)" ""
"0000063965" "00018432" "10" "1167" "165" "1167" "166" "c.1167+165_1167+166dup" "r.(=)" "p.(=)" ""
"0000063966" "00018432" "50" "141" "128" "141" "128" "c.141+128A>G" "r.(=)" "p.(=)" ""
"0000063967" "00018432" "10" "620" "-75" "620" "-75" "c.620-75T>C" "r.(=)" "p.(=)" ""
"0000063968" "00018432" "10" "1167" "74" "1167" "74" "c.1167+74C>T" "r.(=)" "p.(=)" ""
"0000063969" "00018432" "10" "753" "-16" "753" "-16" "c.753-16T>A" "r.(=)" "p.(=)" ""
"0000063970" "00018432" "10" "514" "-53" "514" "-53" "c.514-53A>T" "r.(=)" "p.(=)" ""
"0000063971" "00018432" "10" "56" "-64" "56" "-64" "c.56-64G>A" "r.(=)" "p.(=)" ""
"0000063972" "00018432" "10" "1167" "75" "1167" "75" "c.1167+75G>T" "r.(=)" "p.(=)" ""
"0000063973" "00018432" "10" "1395" "80" "1395" "80" "c.1395+80T>G" "r.(=)" "p.(=)" ""
"0000063974" "00018432" "10" "1861" "-62" "1861" "-62" "c.1861-62C>G" "r.(=)" "p.(=)" ""
"0000063975" "00018432" "10" "909" "0" "909" "0" "c.909C>T" "r.(=)" "p.(=)" ""
"0000063976" "00018432" "10" "2364" "-94" "2364" "-94" "c.2364-94C>A" "r.(=)" "p.(=)" ""
"0000063977" "00018432" "50" "2101" "-66" "2101" "-66" "c.2101-66del" "r.(=)" "p.(=)" ""
"0000246992" "00018432" "10" "753" "-16" "753" "-16" "c.753-16T>A" "r.(=)" "p.(=)" ""
"0000247039" "00018432" "10" "4933" "-15" "4933" "-15" "c.4933-15T>C" "r.(=)" "p.(=)" ""
"0000248444" "00018432" "10" "753" "-16" "753" "-16" "c.753-16T>A" "r.(=)" "p.(=)" ""
"0000295295" "00018432" "10" "5590" "0" "5590" "0" "c.*40A>C" "r.(=)" "p.(=)" ""
"0000295296" "00018432" "50" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Trp54Ter)" ""
"0000295297" "00018432" "10" "2035" "0" "2035" "0" "c.2035G>A" "r.(?)" "p.(Glu679Lys)" ""
"0000295298" "00018432" "50" "2164" "0" "2164" "0" "c.2164C>T" "r.(?)" "p.(Arg722Cys)" ""
"0000295299" "00018432" "30" "2323" "0" "2323" "0" "c.2323G>A" "r.(?)" "p.(Gly775Ser)" ""
"0000295301" "00018432" "10" "2807" "-8" "2807" "-8" "c.2807-8A>G" "r.(=)" "p.(=)" ""
"0000295302" "00018432" "90" "2875" "0" "2875" "0" "c.2875C>T" "r.(?)" "p.(Gln959Ter)" ""
"0000295303" "00018432" "10" "3292" "0" "3292" "0" "c.3292C>G" "r.(?)" "p.(Leu1098Val)" ""
"0000295304" "00018432" "90" "3586" "0" "3586" "0" "c.3586C>T" "r.(?)" "p.(Arg1196Ter)" ""
"0000295305" "00018432" "10" "3646" "0" "3646" "0" "c.3646C>G" "r.(?)" "p.(Gln1216Glu)" ""
"0000295306" "00018432" "50" "364" "0" "364" "0" "c.364G>A" "r.(?)" "p.(Val122Met)" ""
"0000295307" "00018432" "10" "3794" "-20" "3794" "-20" "c.3794-20C>T" "r.(=)" "p.(=)" ""
"0000295308" "00018432" "50" "3866" "0" "3866" "0" "c.3866G>A" "r.(?)" "p.(Arg1289Gln)" ""
"0000295309" "00018432" "50" "422" "0" "422" "0" "c.422A>G" "r.(?)" "p.(Tyr141Cys)" ""
"0000295310" "00018432" "90" "4874" "0" "4874" "0" "c.4874G>A" "r.(?)" "p.(Trp1625Ter)" ""
"0000295311" "00018432" "50" "5020" "0" "5022" "0" "c.5020_5022del" "r.(?)" "p.(Glu1674del)" ""
"0000295312" "00018432" "30" "5037" "0" "5037" "0" "c.5037C>T" "r.(?)" "p.(Arg1679=)" ""
"0000295313" "00018432" "10" "909" "0" "909" "0" "c.909C>T" "r.(?)" "p.(Pro303=)" ""
"0000295315" "00018432" "90" "4443" "1" "4443" "1" "c.4443+1G>C" "r.spl?" "p.?" ""
"0000301651" "00018432" "30" "3292" "0" "3292" "0" "c.3292C>G" "r.(?)" "p.(Leu1098Val)" ""
"0000301652" "00018432" "30" "3730" "0" "3730" "0" "c.3730G>T" "r.(?)" "p.(Val1244Phe)" ""
"0000351646" "00018432" "90" "1459" "0" "1459" "0" "c.1459C>T" "r.(?)" "p.(Arg487*)" "14"
"0000351647" "00018432" "90" "1537" "0" "1537" "0" "c.1537C>T" "r.(?)" "p.(Gln513*)" "14"
"0000351648" "00018432" "90" "2875" "0" "2875" "0" "c.2875C>T" "r.(?)" "p.(Gln959*)" "23"
"0000351649" "00018432" "90" "3586" "0" "3586" "0" "c.3586C>T" "r.(?)" "p.(Arg1196*)" "27"
"0000351650" "00018432" "90" "3946" "0" "3946" "0" "c.3946del" "r.(?)" "p.(Leu1316Phefs*10)" "29"
"0000351651" "00018432" "90" "4299" "0" "4299" "0" "c.4299G>C" "r.(?)" "p.(Arg1433Ser)" "32"
"0000351652" "00018432" "90" "4782" "0" "4782" "0" "c.4782T>G" "r.(?)" "p.(Tyr1594*)" "35"
"0000541755" "00018432" "10" "1173" "0" "1173" "0" "c.1173A>G" "r.(?)" "p.(Ala391=)" ""
"0000541756" "00018432" "50" "1166" "0" "1166" "0" "c.1166A>G" "r.(?)" "p.(Lys389Arg)" ""
"0000541758" "00018432" "10" "513" "17" "513" "17" "c.513+17G>C" "r.(=)" "p.(=)" ""
"0000541760" "00018432" "10" "142" "-14" "142" "-14" "c.142-14dup" "r.(=)" "p.(=)" ""
"0000546163" "00018432" "50" "5037" "0" "5037" "0" "c.5037C>T" "r.(?)" "p.(Arg1679=)" ""
"0000546164" "00018432" "10" "4571" "-6" "4571" "-6" "c.4571-6C>T" "r.(=)" "p.(=)" ""
"0000546165" "00018432" "10" "4571" "-6" "4571" "-6" "c.4571-6C>T" "r.(=)" "p.(=)" ""
"0000546166" "00018432" "50" "4065" "0" "4065" "0" "c.4065G>T" "r.(?)" "p.(Lys1355Asn)" ""
"0000546167" "00018432" "30" "3572" "0" "3572" "0" "c.3572G>A" "r.(?)" "p.(Gly1191Asp)" ""
"0000546168" "00018432" "10" "3111" "-6" "3111" "-6" "c.3111-6T>C" "r.(=)" "p.(=)" ""
"0000546169" "00018432" "10" "2850" "0" "2850" "0" "c.2850C>T" "r.(?)" "p.(Ile950=)" ""
"0000546170" "00018432" "10" "2611" "-19" "2611" "-16" "c.2611-19_2611-16del" "r.(=)" "p.(=)" ""
"0000546171" "00018432" "30" "2611" "-19" "2611" "-16" "c.2611-19_2611-16dup" "r.(=)" "p.(=)" ""
"0000546172" "00018432" "30" "2319" "0" "2319" "0" "c.2319G>A" "r.(?)" "p.(Ala773=)" ""
"0000546173" "00018432" "30" "1893" "0" "1893" "0" "c.1893C>T" "r.(?)" "p.(Ala631=)" ""
"0000546177" "00018432" "30" "1509" "0" "1509" "0" "c.1509A>G" "r.(?)" "p.(Glu503=)" ""
"0000546178" "00018432" "90" "1459" "0" "1459" "0" "c.1459C>T" "r.(?)" "p.(Arg487Ter)" ""
"0000612842" "00018432" "50" "1291" "0" "1291" "0" "c.1291G>A" "r.(?)" "p.(Asp431Asn)" ""
"0000613789" "00018432" "30" "5020" "0" "5022" "0" "c.5020_5022del" "r.(?)" "p.(Glu1674del)" ""
"0000613790" "00018432" "10" "4533" "0" "4533" "0" "c.4533A>G" "r.(?)" "p.(Thr1511=)" ""
"0000613791" "00018432" "30" "3877" "0" "3877" "0" "c.3877A>G" "r.(?)" "p.(Lys1293Glu)" ""
"0000613792" "00018432" "30" "3793" "19" "3793" "19" "c.3793+19T>G" "r.(=)" "p.(=)" ""
"0000613793" "00018432" "50" "3290" "0" "3290" "0" "c.3290C>A" "r.(?)" "p.(Thr1097Asn)" ""
"0000613794" "00018432" "30" "3036" "0" "3036" "0" "c.3036C>T" "r.(?)" "p.(Thr1012=)" ""
"0000613795" "00018432" "50" "2197" "0" "2197" "0" "c.2197C>G" "r.(?)" "p.(Gln733Glu)" ""
"0000613796" "00018432" "50" "2045" "0" "2045" "0" "c.2045G>A" "r.(?)" "p.(Arg682His)" ""
"0000648423" "00018432" "50" "3290" "0" "3290" "0" "c.3290C>A" "r.(?)" "p.(Thr1097Asn)" ""
"0000664101" "00018432" "70" "620" "0" "620" "0" "c.620G>T" "r.(?)" "p.(Gly207Val)" ""
"0000664102" "00018432" "70" "1396" "-1" "3652" "1" "c.(1395+1_1396-1)_(3652+1_3653-1)del" "r.?" "p.?" ""
"0000664103" "00018432" "70" "2215" "0" "2215" "0" "c.2215G>A" "r.(?)" "p.(Glu739Lys)" ""
"0000664104" "00018432" "70" "2536" "1" "2536" "1" "c.2536+1G>A" "r.spl" "p.?" ""
"0000691222" "00018432" "30" "5484" "0" "5484" "0" "c.5484C>T" "r.(?)" "p.(Cys1828=)" ""
"0000691223" "00018432" "30" "3819" "0" "3819" "0" "c.3819C>T" "r.(?)" "p.(Ser1273=)" ""
"0000723054" "00018432" "50" "1124" "0" "1124" "0" "c.1124A>G" "r.(?)" "p.(Gln375Arg)" ""
"0000723777" "00018432" "30" "4809" "0" "4809" "0" "c.4809C>T" "r.(?)" "p.(His1603=)" ""
"0000723778" "00018432" "50" "4522" "0" "4522" "0" "c.4522C>T" "r.(?)" "p.(Arg1508Cys)" ""
"0000723779" "00018432" "30" "2323" "0" "2323" "0" "c.2323G>A" "r.(?)" "p.(Gly775Ser)" ""
"0000805486" "00018432" "30" "3456" "-22" "3456" "-18" "c.3456-22_3456-18del" "r.(=)" "p.(=)" ""
"0000805487" "00018432" "30" "1929" "7" "1929" "7" "c.1929+7T>C" "r.(=)" "p.(=)" ""
"0000814390" "00018432" "90" "141" "1" "141" "1" "c.141+1G>A" "r.spl" "p.(?)" ""
"0000831403" "00018432" "90" "5297" "0" "5301" "0" "c.5297_5301dup" "r.(?)" "p.(Asp1768Phefs*4)" ""
"0000831404" "00018432" "90" "2578" "0" "2578" "0" "c.2578C>T" "r.(?)" "p.(Arg860*)" ""
"0000831405" "00018432" "90" "2597" "0" "2597" "0" "c.2597del" "r.(?)" "p.(Pro866Argfs*70)" ""
"0000832360" "00018432" "90" "178" "0" "179" "0" "c.178_179del" "r.(?)" "p.(Arg60Glufs*14)" ""
"0000832361" "00018432" "90" "2678" "0" "2678" "0" "c.2678T>C" "r.(?)" "p.(Leu893Pro)" ""
"0000832362" "00018432" "90" "2678" "0" "2678" "0" "c.2678T>C" "r.(?)" "p.(Leu893Pro)" ""
"0000832363" "00018432" "90" "2678" "0" "2678" "0" "c.2678T>C" "r.(?)" "p.(Leu893Pro)" ""
"0000832364" "00018432" "90" "1601" "-2" "1601" "-2" "c.1601-2A>G" "r.1601_1617del" "p.Val534Glyfs*23" "14i"
"0000832374" "00018432" "90" "134" "0" "134" "0" "c.134T>A" "r.(?)" "p.(Ile45Asn)" ""
"0000832416" "00018432" "90" "2597" "0" "2597" "0" "c.2597del" "r.(?)" "p.(Pro866Argfs*70)" ""
"0000832417" "00018432" "90" "2578" "0" "2578" "0" "c.2578C>T" "r.(?)" "p.(Arg860*)" ""
"0000832418" "00018432" "90" "1291" "0" "1291" "0" "c.1291G>C" "r.(?)" "p.(Asp431His)" ""
"0000832419" "00018432" "90" "5232" "-10" "5244" "0" "c.5232-10_5244del" "r.5232_5319del" "p.Arg1744Serfs*22" "37i"
"0000853222" "00018432" "50" "1967" "0" "1967" "0" "c.1967G>C" "r.(?)" "p.(Cys656Ser)" ""
"0000862758" "00018432" "30" "4209" "0" "4209" "0" "c.4209T>C" "r.(?)" "p.(Gly1403=)" ""
"0000889370" "00018432" "50" "777" "0" "777" "0" "c.777G>A" "r.(?)" "p.(Pro259=)" ""
"0000889371" "00018432" "30" "513" "18" "513" "18" "c.513+18A>T" "r.(=)" "p.(=)" ""
"0000890223" "00018432" "50" "5158" "0" "5158" "0" "c.5158T>C" "r.(?)" "p.(Ser1720Pro)" ""
"0000913384" "00018432" "30" "142" "-14" "142" "-14" "c.142-14dup" "r.(=)" "p.(=)" ""
"0000913726" "00018432" "10" "4533" "0" "4533" "0" "c.4533A>G" "r.(?)" "p.(Thr1511=)" ""
"0000929994" "00018432" "50" "3376" "0" "3376" "0" "c.3376A>T" "r.(?)" "p.(Ile1126Leu)" ""
"0000949817" "00018432" "50" "2424" "0" "2424" "0" "c.2424T>A" "r.(?)" "p.(Asn808Lys)" ""
"0000957716" "00018432" "50" "862" "-7" "862" "-7" "c.862-7C>G" "r.spl?" "p.(?)" ""
"0000966643" "00018432" "30" "2323" "0" "2323" "0" "c.2323G>A" "r.(?)" "p.(Gly775Ser)" ""
"0000979263" "00018432" "50" "777" "0" "777" "0" "c.777G>A" "r.(?)" "p.(Pro259=)" ""
"0001038861" "00018432" "30" "3652" "15" "3652" "15" "c.3652+15A>G" "r.(=)" "p.(=)" ""
"0001038862" "00018432" "30" "2197" "0" "2197" "0" "c.2197C>G" "r.(?)" "p.(Gln733Glu)" ""
"0001038863" "00018432" "50" "2101" "0" "2101" "0" "c.2101G>A" "r.(?)" "p.(Asp701Asn)" ""
"0001053809" "00018432" "50" "2450" "0" "2450" "0" "c.2450G>A" "r.(?)" "p.(Arg817Gln)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 48
"{{screeningid}}" "{{variantid}}"
"0000036832" "0000063957"
"0000036833" "0000063958"
"0000036834" "0000063959"
"0000036835" "0000063960"
"0000036836" "0000063961"
"0000036837" "0000063962"
"0000036838" "0000063963"
"0000036839" "0000063964"
"0000036840" "0000063965"
"0000036841" "0000063966"
"0000036842" "0000063967"
"0000036843" "0000063968"
"0000036844" "0000063969"
"0000036845" "0000063970"
"0000036846" "0000063971"
"0000036847" "0000063972"
"0000036848" "0000063973"
"0000036849" "0000063974"
"0000036850" "0000063975"
"0000036851" "0000063976"
"0000036852" "0000063977"
"0000152811" "0000351646"
"0000152812" "0000351647"
"0000152813" "0000351648"
"0000152814" "0000351649"
"0000152815" "0000351650"
"0000152816" "0000351651"
"0000152817" "0000351652"
"0000291734" "0000648423"
"0000301206" "0000664101"
"0000301207" "0000664102"
"0000301208" "0000664103"
"0000301209" "0000664104"
"0000386710" "0000814390"
"0000399085" "0000831403"
"0000399086" "0000831404"
"0000399086" "0000832416"
"0000399087" "0000831405"
"0000399087" "0000832417"
"0000399566" "0000832418"
"0000399744" "0000832360"
"0000399745" "0000832361"
"0000399746" "0000832362"
"0000399747" "0000832363"
"0000399748" "0000832364"
"0000399748" "0000832419"
"0000399756" "0000832374"
"0000448310" "0000957716"