### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NEFL) # 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}}" "NEFL" "neurofilament, light polypeptide" "8" "p21.2" "unknown" "NG_008492.1" "UD_132118747918" "" "https://www.LOVD.nl/NEFL" "IPNMDB - Inherited Peripheral Neuropathies Mutation DataBase " "1" "7739" "4747" "162280" "1" "1" "1" "1" "This database is one of the gene variant databases from the:

\r\n
Variants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB." "" "g" "https://databases.lovd.nl/shared/refseq/NEFL_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2018-12-28 11:29:59" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00025355" "NEFL" "neurofilament, light polypeptide" "001" "NM_006158.4" "" "NP_006149.2" "" "" "" "-354" "3488" "1633" "24814383" "24808468" "00006" "2018-12-28 11:33:29" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{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" "00199" "CMT2" "Charcot-Marie-Tooth disease, type 2 (CMT-2)" "" "" "" "" "" "00006" "2013-09-13 14:35:15" "00006" "2021-12-11 13:56:28" "02693" "CMT2E" "Charcot-Marie-Tooth disease, type 2E (CMT-2E)" "AD" "607684" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02698" "CMT1F" "Charcot-Marie-Tooth disease, type IF (CMT-1F)" "AD;AR" "607734" "" "" "" "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" "05111" "HMN" "neuropathy, motor, distal, hereditary (HMN)" "" "" "" "" "" "00006" "2016-01-11 01:33:03" "00006" "2016-03-20 12:15:43" "05113" "CMT" "Charcot-Marie-Tooth disease (CMT)" "" "" "" "" "" "00006" "2016-01-11 01:40:57" "" "" "05384" "neuropathy" "neuropathy" "" "" "" "" "" "00006" "2018-01-27 20:34:06" "" "" "06788" "CMTDIG" "Charcot-Marie-Tooth disease, dominant intermediate G" "AD" "617882" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "NEFL" "02693" "NEFL" "02698" "NEFL" "06788" ## Individuals ## Do not remove or alter this header ## ## Count = 62 "{{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}}" "00036393" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036394" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036395" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00207583" "" "" "" "1" "" "02371" "" "" "F" "no" "France" "69y" "0" "" "" "" "" "00210525" "" "" "" "1" "" "01493" "" "family, 3 affecteds" "F" "no" "Korea, South (Republic)" "" "0" "" "" "Korean" "" "00210526" "" "" "" "1" "" "01493" "" "family, 6 affecteds" "M" "no" "Korea, South (Republic)" "" "0" "" "" "Korean" "" "00210527" "" "" "" "1" "" "01493" "" "family, 2 affecteds" "F" "no" "Korea, South (Republic)" "" "0" "" "" "Korean" "" "00210528" "" "" "" "1" "" "00006" "{PMID:Zuchner 2004:14733962}" "" "" "" "" "" "0" "" "" "" "" "00210529" "" "" "" "1" "" "00006" "{PMID:Benedetti 2010:21149811}" "" "" "" "" "" "0" "" "" "" "" "00210530" "" "" "" "1" "" "00006" "{PMID:Jordanova 2003:12566280}" "" "" "" "" "" "0" "" "" "" "" "00210531" "" "" "" "1" "" "00006" "{PMID:Jordanova 2003:12566280}" "" "" "" "" "" "0" "" "" "" "" "00210532" "" "" "" "1" "" "00006" "{PMID:Jordanova 2003:12566280}" "" "" "" "" "" "0" "" "" "" "" "00210533" "" "" "" "1" "" "00006" "{PMID:Jordanova 2003:12566280}" "" "" "" "" "" "0" "" "" "" "" "00210534" "" "" "" "1" "" "00006" "{PMID:Jordanova 2003:12566280}" "" "" "" "" "" "0" "" "" "" "" "00210535" "" "" "" "1" "" "00006" "{PMID:Miltenberger-Miltenyi 2007:17620486}" "" "" "" "" "" "0" "" "" "" "" "00210536" "" "" "" "1" "" "00006" "{PMID:Yoshihara 2002:12477167}" "" "" "" "" "" "0" "" "" "" "" "00210537" "" "" "" "1" "" "00006" "{PMID:Abe 2009:19158810}" "" "" "" "" "" "0" "" "" "" "" "00210538" "" "" "" "1" "" "00006" "{PMID:Yoshihara 2002:12477167}" "" "" "" "" "" "0" "" "" "" "" "00210539" "" "" "" "1" "" "00006" "{PMID:Yum 2009:20039262}" "" "" "" "" "" "0" "" "" "" "" "00210540" "" "" "" "1" "" "00006" "{PMID:Georgiou 2002:12481988}" "" "" "" "" "" "0" "" "" "" "" "00210541" "" "" "" "1" "" "00006" "{PMID:Shin 2008:18758688}" "" "" "" "" "" "0" "" "" "" "" "00210542" "" "" "" "1" "" "00006" "{PMID:Fabrizi 2007:17052987}" "" "" "" "" "" "0" "" "" "" "" "00210543" "" "" "" "1" "" "00006" "{PMID:Mersiyanova 2000:10841809}" "" "" "" "" "" "0" "" "" "" "" "00210544" "" "" "" "1" "" "00006" "{PMID:Choi 2004:15241803}" "" "" "" "" "" "0" "" "" "" "" "00219021" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "F" "" "(Germany)" "" "0" "" "" "" "28902413-Pat31" "00219022" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "F" "" "(Germany)" "" "0" "" "" "" "28902413-Pat32" "00219023" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "F" "" "(Germany)" "" "0" "" "" "" "28902413-Pat33" "00219024" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "M" "" "(Germany)" "" "0" "" "" "" "28902413-Pat34" "00228245" "" "" "" "1" "" "01741" "" "" "" "" "" "" "0" "" "" "" "" "00263951" "" "" "" "1" "" "01364" "" "" "" "" "Spain" "" "0" "" "" "" "?" "00263952" "" "" "" "1" "" "01364" "" "" "" "" "Spain" "" "0" "" "" "" "?" "00263953" "" "" "" "1" "" "01364" "" "" "" "" "Spain" "" "0" "" "" "" "?" "00263954" "" "" "" "1" "" "01364" "" "" "" "" "Spain" "" "0" "" "" "" "?" "00263955" "" "" "" "1" "" "01364" "" "" "" "" "Spain" "" "0" "" "" "" "?" "00294622" "" "" "" "51" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294623" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00300017" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-NEFL-a" "00300018" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00300019" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00300082" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00300083" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00300121" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-NEFL-b" "00324636" "" "" "" "3" "" "00006" "{PMID:Lin 2011:232206013}" "2-generation family, 3 affected (F, 2M)" "F" "" "Taiwan" "" "0" "" "" "Han Chinese" "Fam4" "00324637" "" "" "" "1" "" "00006" "{PMID:Lin 2011:232206013}" "" "M" "" "Taiwan" "" "0" "" "" "Han Chinese" "Fam5" "00324638" "" "" "" "4" "" "00006" "{PMID:Lin 2011:232206013}" "2-generation family, >3 affected" "F" "" "Taiwan" "" "0" "" "" "Han Chinese" "Fam6" "00324639" "" "" "" "4" "" "00006" "{PMID:Lin 2011:232206013}" "2-generation family, >3 affected" "F" "" "Taiwan" "" "0" "" "" "Han Chinese" "Fam7" "00324640" "" "" "" "2" "" "00006" "{PMID:Lin 2011:232206013}" "2-generation family, affected brother/sister" "M" "" "Taiwan" "" "0" "" "" "Han Chinese" "Fam8" "00324641" "" "" "" "1" "" "00006" "{PMID:Lin 2011:232206013}" "" "F" "" "Taiwan" "" "0" "" "" "Han Chinese" "Fam9" "00374415" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-567" "00375207" "" "" "" "1" "" "01741" "" "" "" "" "" "" "" "" "" "" "" "00397139" "" "" "" "1" "" "04209" "{PMID:Horga 2017:28501821}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "?" "United Kingdom (Great Britain)" ">40y" "0" "" "" "Brittish" "Pat1" "00397394" "" "" "" "1" "" "04209" "{PMID:Horga 2017:28501821}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United Kingdom (Great Britain)" ">34y" "0" "" "" "Brittish;Irish" "Pat2" "00397502" "" "" "" "1" "" "04209" "{PMID:Horga 2017:28501821}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Austria;Russia" ">15y" "0" "" "" "" "Pat3" "00397517" "" "" "" "1" "" "04209" "{PMID:Horga 2017:28501821}" "2-generation family, 1 affected, unaffected parents" "M" "no" "United Kingdom (Great Britain)" ">76y" "0" "" "" "Brittish" "Pat5" "00397665" "" "" "" "1" "" "00006" "{PMID:Horga 2017:28501821}" "2-generation family, 1 affected, unaffected parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Brittish" "Pat4" "00398808" "" "" "" "2" "" "04209" "{PMID:Machado 2019:31788662}" "5-generation family, 2 affected females (mother and daughter)" "F" "yes" "Portugal" ">68y" "0" "" "" "Portugal" "FamPat1" "00398809" "" "" "00398808" "1" "" "04209" "{PMID:Machado 2019:31788662}" "daughter" "F" "no" "Portugal" ">47y" "0" "" "" "Portugal" "FamPat2" "00398853" "" "" "" "1" "" "04209" "{PMID:Fu 2017:29191368}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/" "F" "yes" "China" "" "0" "" "" "China" "patient" "00405095" "" "" "" "3" "" "00435" "" "family, affected proband, father and brother" "M" "" "Egypt" "" "0" "" "" "" "" "00408698" "" "" "" "1" "" "00006" "{PMID:Thomas 2022:34085946}" "no family history" "" "no" "France" "" "0" "" "" "" "Pat52" "00408953" "" "" "" "1" "" "00000" "{PMID:Lerat-2019:31393079}" "" "F" "" "France" "" "0" "" "" "French" "XIX" "00408955" "" "" "" "1" "" "00000" "{PMID:Lerat-2019:31393079}" "" "F" "" "France" "" "0" "" "" "French" "XXI" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 60 "{{individualid}}" "{{diseaseid}}" "00036395" "00198" "00207583" "05113" "00210525" "05113" "00210526" "05113" "00210527" "05113" "00210528" "05113" "00210529" "05113" "00210530" "00199" "00210531" "00199" "00210532" "00199" "00210533" "00199" "00210534" "00199" "00210535" "00199" "00210536" "05113" "00210537" "05113" "00210538" "05113" "00210539" "05384" "00210540" "00199" "00210541" "05113" "00210542" "00199" "00210543" "00199" "00210544" "00199" "00219021" "05113" "00219022" "05113" "00219023" "05113" "00219024" "05113" "00228245" "02698" "00263951" "00199" "00263952" "00199" "00263953" "00199" "00263954" "00199" "00263955" "00199" "00294622" "00198" "00294623" "00198" "00300017" "05113" "00300018" "05113" "00300019" "05111" "00300082" "00199" "00300083" "00199" "00300121" "05113" "00324636" "05113" "00324637" "05113" "00324638" "05113" "00324639" "05113" "00324640" "05113" "00324641" "05113" "00374415" "00198" "00375207" "02698" "00397139" "05113" "00397394" "05113" "00397502" "05113" "00397517" "02698" "00397665" "05113" "00398808" "05113" "00398809" "05113" "00398853" "05113" "00405095" "05113" "00408698" "00198" "00408953" "04214" "00408955" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00199, 02693, 02698, 04214, 05111, 05113, 05384, 06788 ## Count = 34 "{{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}}" "0000155394" "05113" "00207583" "02371" "Familial, autosomal dominant" "69y" "sensori-motor axonal neuropathy and moderate hearing loss" "45y" "" "" "NEFL" "" "" "" "" "CMT2E" "cmt" "" "0000156515" "00198" "00036395" "01164" "Unknown" "" "suspected HMSN" "" "" "" "" "" "" "" "" "" "hereditary motor and sensory neuropathy?" "" "0000159090" "05113" "00210525" "01493" "Familial, autosomal dominant" "" "type 2" "11y" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "0000159091" "05113" "00210526" "01493" "Familial, autosomal dominant" "" "intermediate type" "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "0000159092" "05113" "00210527" "01493" "Familial, autosomal dominant" "" "type 1" "23y" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "0000167578" "05113" "00219021" "00006" "Unknown" "" "CMT1F, CMT2E; no family history" "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth diseae" "" "0000167579" "05113" "00219022" "00006" "Unknown" "" "CMT1F, CMT2E; no family history" "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth diseae" "" "0000167580" "05113" "00219023" "00006" "Unknown" "" "CMT1F, CMT2E; no family history" "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth diseae" "" "0000167581" "05113" "00219024" "00006" "Familial, autosomal dominant" "" "CMT1F, CMT2E" "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth diseae" "" "0000227338" "05113" "00300017" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "CMT1" "" "0000227339" "05113" "00300018" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "CMT1" "" "0000227340" "05111" "00300019" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "hereditar motor neuropathy" "" "0000227403" "00199" "00300082" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "CMT2" "" "0000227404" "00199" "00300083" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "CMT2" "" "0000227442" "05113" "00300121" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "CMT1" "" "0000243141" "05113" "00324636" "00006" "Familial, autosomal dominant" "26y" "see paper; ..." "10y" "" "" "" "" "" "" "" "CMT2N" "Charcot-Marie-Tooth disease" "" "0000243142" "05113" "00324637" "00006" "Familial, autosomal dominant" "47y" "see paper; ..." "10y" "" "" "" "" "" "" "" "CMT2N" "Charcot-Marie-Tooth disease" "" "0000243143" "05113" "00324638" "00006" "Familial, autosomal dominant" "45y" "see paper; ..." "12y" "" "" "" "" "" "" "" "CMT2N" "Charcot-Marie-Tooth disease" "" "0000243144" "05113" "00324639" "00006" "Familial, autosomal dominant" "43y" "see paper; ..." "30y" "" "" "" "" "" "" "" "CMT2N" "Charcot-Marie-Tooth disease" "" "0000243145" "05113" "00324640" "00006" "Familial, autosomal dominant" "27y" "see paper; ..." "<1y" "" "" "" "" "" "" "" "CMT2N" "Charcot-Marie-Tooth disease" "" "0000243146" "05113" "00324641" "00006" "Familial, autosomal dominant" "60y" "see paper; ..." "40y" "" "" "" "" "" "" "" "CMT2N" "Charcot-Marie-Tooth disease" "" "0000269625" "00198" "00374415" "00006" "Familial, autosomal recessive" "" "Motor developmental delay and hypotonia. A nerve conduction velocity test was suggestive of HMSN." "" "" "" "" "" "" "" "" "" "neuropathy" "" "0000290293" "05113" "00397139" "04209" "Isolated (sporadic)" "40y" "see paper; motor delay (HP:0001270), finger contractures (HP:0012785), distal upper limb muscle atrophy (HP:0007149), lower limb muscular atrophy (HP:0008944), upper limb muscle weakness (HP:0003484), lower limb muscle weakness (HP:0007340); no deep tendon reflexes (HP:0001284), pinprick sensation reduced to mid-forearms/above knees (HP:0007328), vibration sense reduced to left shoulder/costal margins (HP:0002495), position sense reduced to the ankles, marked UL/LL limb ataxia worse with eyes closed (HP:0002070), no pyramidal signs (-HP:0007256), positive Romberg sign (HP:0002403), steppage gait (HP:0003376), ataxic gait (HP:0002066), pes cavus (HP:0001761); 5y-sensorineural hearing loss (HP:0000407), hearing aids; dysarthria (HP:0001260), mild head tremor (HP:0002346), broken-up smooth pursuits (HP:0007772), tongue hemiatrophy (HP:0100556), mild scoliosis (HP:0002650), scapular winging (HP:0003691); demyelinating neuropathy; absent brainstem auditory evoked potentials; MRI brain mild cerebellar and medullary volume loss; MRI spinal cord mild cervical cord volume loss, ..." "<01y" "" "delayed motor milestones, finger contractures" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "0000290532" "05113" "00397394" "04209" "Isolated (sporadic)" "34y" "see paper; motor delay (HP:0001270), hypotonia (HP:0001252), distal upper limb muscle atrophy (HP:0007149), lower limb muscular atrophy (HP:0008944), upper limb muscle weakness (HP:0003484), lower limb muscle weakness (HP:0007340); no deep tendon reflexes (HP:0001284), pinprick sensation reduced to mid-forearms/above knees (HP:0007328), vibration sense reduced to left shoulder/costal margins (HP:0002495), position sense reduced to the ankle/knee, mild UL/LL limb ataxia only with eyes closed (HP:0002070), no pyramidal signs (-HP:0007256), positive Romberg sign (HP:0002403), steppage gait (HP:0003376), pes cavus (HP:0001761); 8y-sensorineural hearing loss (HP:0000407), hearing aids; dysarthria (HP:0001260), mild head tremor (HP:0002346), broken-up smooth pursuits (HP:0007772), scapular winging (HP:0003691); demyelinating neuropathy; absent right brainstem auditory evoked potentials, abnornal left; MRI brain normal; MRI spinal cord mild cervical cord volume loss; nerves loss or large myelinated fibres, irregularly shaped fibres, thin myelin sheaths, onion bulb, ..." "<01y" "" "motor delay (HP:0001270), hypotonia (HP:0001252)" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "0000290634" "05113" "00397502" "04209" "Isolated (sporadic)" "15y" "see paper; motor delay (HP:0001270), optic nerve hypoplasia (HP:0000609), distal upper limb muscle atrophy (HP:0007149), distal lower limb muscular atrophy (HP:0008944), upper limb muscle weakness (HP:0003484), lower limb muscle weakness (HP:0007340); no deep tendon reflexes (HP:0001284), normal pinprick sensation (-HP:0007328), vibration sense reduced to elbows/ankles (HP:0002495), normal position sense (-HP:0002070), no linm ataxia, no pyramidal signs (-HP:0007256), positive Romberg sign (HP:0002403), steppage gait (HP:0003376), ataxic gait (HP:0002066), pes cavus (HP:0001761); 8y-sensorineural hearing loss (HP:0000407), hearing aids; mild hand tremor (HP:0002378), muscle cramps (HP:0003394), urinary incontinence (HP:0000020); demyelinating neuropathy; absent brainstem auditory evoked potentials; ..." "<02y" "" "motor delay (HP:0001270), optic nerve hypoplasia (HP:0000609)" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "0000290639" "02698" "00397517" "04209" "Unknown" "76y" "see paper; unsteady gait (HP:0002317), tremor hands (HP:0002378), muscle atrophy hands (HP:0008948), lower limb muscular atrophy (HP:0008944), upper limb muscle weakness (HP:0003484), lower limb muscle weakness (HP:0007340); no deep tendon reflexes (HP:0001284), pinprick sensation reduced to above ankles (HP:0007328), vibration sense reduced to knees (HP:0002495), position sense reduced to ankles (HP:0002070), no pyramidal signs (-HP:0007256), positive Romberg sign (HP:0002403), stamping gait, ataxic gait (HP:0002066), no pes cavus (-HP:0001761); mild head tremor (HP:0002346), thickened ulnar nerve; neuropathy with axonal and demyelinating features (HP:0009830); MRI brain normal; MRI spinal cord normal, ..." "50y-60y" "" "unsteady gait (HP:0002317), tremor hands (HP:0002378)" "" "" "" "" "" "CMT" "Charcot-Marie-Tooth disease" "" "0000290792" "05113" "00397665" "00006" "Unknown" "53y" "see paper; unsteady gait (HP:0002317), tremor hands (HP:0002378), restless legs (HP:0012452), atrophy hands (HP:0008948), lower limb muscular atrophy (HP:0008944), upper limb muscle weakness (HP:0003484), lower limb muscle weakness (HP:0007340); no deep tendon reflexes (HP:0001284), pinprick sensation reduced to wrists/knees (HP:0007328), vibration sense reduced to elbows/costal margins (HP:0002495), normal position sense (-HP:0002070), no pyramidal signs (-HP:0007256), positive Romberg sign (HP:0002403), steppage gait (HP:0003376), pes cavus (HP:0001761); subclinical high frequency sensorineural hearing loss (HP:0000407), mild head tremor (HP:0002346), mild tremor upper limbs, mild broken-up smooth pursuits, periodic limb movements disorder; neuropathy with axonal and demyelinating features (HP:0009830); normal brainstem auditory evoked potentials; MRI brain normal; MRI spinal cord normal, loss of large myelinated fibres, irregularly shaped fibres, regeneration clusters, ..." "" "10y-20y" "unsteady gait (HP:0002317), tremor hands (HP:0002378), restless legs (HP:0012452)" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "0000292398" "05113" "00398853" "04209" "Familial, autosomal recessive" "13y" "see paper; Distal lower limb muscle weakness (HP:0009053), Distal upper limb muscle weakness (HP:0008959), Distal upper limb amyotrophy (HP:0007149), Distal lower limb amyotrophy (HP:0008944), Foot dorsiflexor weakness (HP:0009027), Talipes equinovarus (HP:0001762), Pes cavus (HP:0001761), Achilles tendon contracture (HP:0001771), Areflexia (HP:0001284), No pyramidal signs (-HP:0007328), No pyramidal signs (-HP:0002495)" "01y" "" "Motor delay (HP:0001270), Gait disturbance (HP:0001288), Abnormality of the calf musculature (HP:0001430)" "" "" "" "" "" "CMT1F" "Charcot-Marie-Tooth disease" "" "0000292399" "05113" "00398808" "04209" "Familial, autosomal dominant" "66y" "see paper; Gait ataxia (HP:0002066), Positive Romberg sign (HP:0002403), Impaired tactile sensation (HP:0010830), Impaired pain sensation (HP:0007328), Impaired vibratory sensation (HP:0002495)" "42y" "" "Gait disturbance (HP:0001288)" "" "" "" "" "" "CMT2E" "Charcot-Marie-Tooth disease" "" "0000292400" "05113" "00398809" "04209" "Familial, autosomal dominant" "46y" "see paper; Steppage gait (HP:0003376), Hammertoe (HP:0001765), Lower limb muscle weakness (HP:0007340), No pyramidal signs (-HP:0010830), No pyramidal signs (-HP:0007328), Impaired vibration sensation in the lower limbs (HP:0002166)" "33y" "" "Gait disturbance (HP:0001288), Pes cavus (HP:0001761)" "" "" "" "" "" "CMT-2E" "Charcot-Marie-Tooth disease" "" "0000297648" "05113" "00405095" "00435" "Familial, autosomal dominant" "32y" "36-y male with progressive weakness and wasting of both upper and lower limbs" "17y" "" "" "" "" "" "" "" "" "CMT1F" "" "0000300816" "00198" "00408698" "00006" "Isolated (sporadic)" "" "" "3y" "" "" "" "" "" "" "" "CMTDIG" "" "" "0000301071" "04214" "00408953" "00000" "Familial, autosomal dominant" "69y" "moderate hearing loss" "45y" "" "Sensori?motor Axonal, pes cavus" "" "" "" "" "" "" "inherited peripheral neuropathy (IPN)" "" "0000301073" "04214" "00408955" "00000" "Familial, autosomal dominant" "10y" "moderate hearing loss" "2y" "" "Sensori?motor Demyelinating, pes cavus" "" "" "" "" "" "" "inherited peripheral neuropathy (IPN)" "" ## Screenings ## Do not remove or alter this header ## ## Count = 62 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000036463" "00036393" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036464" "00036394" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036465" "00036395" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000208620" "00207583" "1" "02371" "02371" "2018-11-25 18:19:06" "" "" "SEQ-NG" "DNA" "" "" "0000211601" "00210525" "1" "01493" "00006" "2012-05-14 16:49:07" "" "" "DSCA;SEQ" "DNA" "" "" "0000211602" "00210526" "1" "01493" "00006" "2012-05-14 16:55:16" "" "" "DSCA;SEQ" "DNA" "" "" "0000211603" "00210527" "1" "01493" "00006" "2012-05-14 17:02:19" "" "" "SEQ" "DNA" "" "" "0000211604" "00210528" "1" "00006" "00006" "2012-11-07 11:24:07" "" "" "SEQ" "DNA" "" "" "0000211605" "00210529" "1" "00006" "00006" "2012-11-07 11:24:07" "" "" "SEQ" "DNA" "" "" "0000211606" "00210530" "1" "00006" "00006" "2012-11-07 11:24:08" "" "" "SEQ" "DNA" "" "" "0000211607" "00210531" "1" "00006" "00006" "2012-11-07 11:24:08" "" "" "SEQ" "DNA" "" "" "0000211608" "00210532" "1" "00006" "00006" "2012-11-07 11:24:08" "" "" "SEQ" "DNA" "" "" "0000211609" "00210533" "1" "00006" "00006" "2012-11-07 11:24:08" "" "" "SEQ" "DNA" "" "" "0000211610" "00210534" "1" "00006" "00006" "2012-11-07 11:24:08" "" "" "SEQ" "DNA" "" "" "0000211611" "00210535" "1" "00006" "00006" "2012-11-07 11:24:08" "" "" "SEQ" "DNA" "" "" "0000211612" "00210536" "1" "00006" "00006" "2012-11-07 11:24:08" "" "" "SEQ" "DNA" "" "" "0000211613" "00210537" "1" "00006" "00006" "2012-11-07 11:24:08" "" "" "SEQ" "DNA" "" "" "0000211614" "00210538" "1" "00006" "00006" "2012-11-07 11:24:08" "" "" "SEQ" "DNA" "" "" "0000211615" "00210539" "1" "00006" "00006" "2012-11-07 11:24:08" "" "" "SEQ" "DNA" "" "" "0000211616" "00210540" "1" "00006" "00006" "2012-11-07 11:24:08" "" "" "SEQ" "DNA" "" "" "0000211617" "00210541" "1" "00006" "00006" "2012-11-07 11:24:08" "" "" "SEQ" "DNA" "" "" "0000211618" "00210542" "1" "00006" "00006" "2012-11-07 11:24:08" "" "" "SEQ" "DNA" "" "" "0000211619" "00210543" "1" "00006" "00006" "2012-11-07 11:24:08" "" "" "SEQ" "DNA" "" "" "0000211620" "00210544" "1" "00006" "00006" "2012-11-07 11:24:08" "" "" "SEQ" "DNA" "" "" "0000220093" "00219021" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted multigene panel" "0000220094" "00219022" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted multigene panel" "0000220095" "00219023" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted multigene panel" "0000220096" "00219024" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted multigene panel" "0000229335" "00228245" "1" "01741" "01741" "2019-03-22 11:59:19" "" "" "SEQ-NG" "DNA" "" "" "0000265061" "00263951" "1" "01364" "01364" "2015-09-18 12:05:38" "" "" "SEQ" "DNA" "Blood" "" "0000265062" "00263952" "1" "01364" "01364" "2015-09-18 12:05:38" "" "" "SEQ" "DNA" "Blood" "" "0000265063" "00263953" "1" "01364" "01364" "2015-09-18 12:05:38" "" "" "SEQ" "DNA" "Blood" "" "0000265064" "00263954" "1" "01364" "01364" "2015-09-18 12:05:38" "" "" "SEQ" "DNA" "Blood" "" "0000265065" "00263955" "1" "01364" "01364" "2015-09-18 12:05:38" "" "" "SEQ" "DNA" "Blood" "" "0000295790" "00294622" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295791" "00294623" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000301133" "00300017" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301134" "00300018" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301135" "00300019" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301198" "00300082" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301199" "00300083" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301237" "00300121" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000325835" "00324636" "1" "00006" "00006" "2020-12-20 16:14:59" "" "" "SEQ" "DNA" "" "gene panel" "0000325836" "00324637" "1" "00006" "00006" "2020-12-20 16:14:59" "" "" "SEQ" "DNA" "" "gene panel" "0000325837" "00324638" "1" "00006" "00006" "2020-12-20 16:14:59" "" "" "SEQ" "DNA" "" "gene panel" "0000325838" "00324639" "1" "00006" "00006" "2020-12-20 16:14:59" "" "" "SEQ" "DNA" "" "gene panel" "0000325839" "00324640" "1" "00006" "00006" "2020-12-20 16:14:59" "" "" "SEQ" "DNA" "" "gene panel" "0000325840" "00324641" "1" "00006" "00006" "2020-12-20 16:14:59" "" "" "SEQ" "DNA" "" "gene panel" "0000375609" "00374415" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000376401" "00375207" "1" "01741" "01741" "2021-05-31 10:02:23" "" "" "SEQ-NG" "DNA" "" "" "0000398379" "00397139" "1" "04209" "04209" "2021-12-19 21:17:16" "00006" "2021-12-27 16:38:43" "SEQ;SEQ-NG" "DNA" "" "WES" "0000398634" "00397394" "1" "04209" "04209" "2021-12-20 21:21:52" "00006" "2021-12-27 18:35:18" "SEQ;SEQ-NG" "DNA" "" "WES" "0000398742" "00397502" "1" "04209" "04209" "2021-12-22 15:15:48" "00006" "2021-12-27 18:36:47" "SEQ;SEQ-NG" "DNA" "" "WES" "0000398757" "00397517" "1" "04209" "04209" "2021-12-22 17:23:55" "00006" "2021-12-27 18:39:30" "SEQ;SEQ-NG" "DNA" "" "WES" "0000398903" "00397665" "1" "00006" "00006" "2021-12-27 19:45:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000400049" "00398808" "1" "04209" "04209" "2022-01-12 19:25:32" "" "" "SEQ-NG" "DNA" "" "WES" "0000400050" "00398809" "1" "04209" "04209" "2022-01-12 20:22:11" "" "" "SEQ-NG" "DNA" "" "WES" "0000400095" "00398853" "1" "04209" "04209" "2022-01-13 16:56:24" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000406338" "00405095" "1" "00435" "00435" "2022-03-16 00:36:58" "" "" "SEQ" "DNA" "blood" "" "0000409960" "00408698" "1" "00006" "00006" "2022-04-25 19:53:26" "" "" "SEQ" "DNA" "" "" "0000410218" "00408953" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ;SEQ-NG" "DNA" "peripheral blood" "" "0000410220" "00408955" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ;SEQ-NG" "DNA" "peripheral blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 59 "{{screeningid}}" "{{geneid}}" "0000036463" "NEFL" "0000036464" "NEFL" "0000036465" "NEFL" "0000208620" "NEFL" "0000211601" "NEFL" "0000211602" "NEFL" "0000211603" "NEFL" "0000211604" "NEFL" "0000211605" "NEFL" "0000211606" "NEFL" "0000211607" "NEFL" "0000211608" "NEFL" "0000211609" "NEFL" "0000211610" "NEFL" "0000211611" "NEFL" "0000211612" "NEFL" "0000211613" "NEFL" "0000211614" "NEFL" "0000211615" "NEFL" "0000211616" "NEFL" "0000211617" "NEFL" "0000211618" "NEFL" "0000211619" "NEFL" "0000211620" "NEFL" "0000220093" "NEFL" "0000220094" "NEFL" "0000220095" "NEFL" "0000220096" "NEFL" "0000229335" "NEFL" "0000265061" "NEFL" "0000265062" "NEFL" "0000265063" "NEFL" "0000265064" "NEFL" "0000265065" "NEFL" "0000301133" "NEFL" "0000301134" "NEFL" "0000301135" "NEFL" "0000301198" "NEFL" "0000301199" "NEFL" "0000301237" "NEFL" "0000325835" "NEFL" "0000325836" "NEFL" "0000325837" "NEFL" "0000325838" "NEFL" "0000325839" "NEFL" "0000325840" "NEFL" "0000375609" "NEFL" "0000376401" "NEFL" "0000398379" "NEFL" "0000398634" "NEFL" "0000398742" "NEFL" "0000398757" "NEFL" "0000398903" "NEFL" "0000400049" "NEFL" "0000400050" "NEFL" "0000400095" "NEFL" "0000406338" "NEFL" "0000410218" "NEFL" "0000410220" "NEFL" ## 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 = 123 "{{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}}" "0000063588" "1" "10" "8" "24812940" "24812940" "subst" "0.00903505" "01164" "NEFL_000003" "g.24812940C>T" "" "" "" "" "" "Germline" "" "rs43338656" "0" "" "" "g.24955426C>T" "" "benign" "" "0000063589" "1" "10" "8" "24812941" "24812941" "subst" "0.000341391" "01164" "NEFL_000002" "g.24812941C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.24955427C>G" "" "benign" "" "0000063590" "1" "50" "8" "24813095" "24813095" "subst" "0" "01164" "NEFL_000001" "g.24813095A>G" "" "" "" "" "Polyphen-2: prob. damaging (PSIC: 0,988)" "Germline" "" "" "0" "" "" "g.24955581A>G" "" "VUS" "" "0000246713" "0" "10" "8" "24813803" "24813803" "subst" "0.000712806" "02330" "NEFL_000027" "g.24813803A>G" "" "" "" "NEFL(NM_006158.4):c.227T>C (p.V76A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24956289A>G" "" "benign" "" "0000246722" "0" "10" "8" "24811322" "24811322" "subst" "0.065573" "02330" "NEFL_000016" "g.24811322A>G" "" "" "" "NEFL(NM_006158.4):c.1170-13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24953808A>G" "" "benign" "" "0000246756" "0" "90" "8" "24813032" "24813032" "subst" "0" "02330" "NEFL_000021" "g.24813032A>G" "" "" "" "NEFL(NM_006158.4):c.998T>C (p.L333P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24955518A>G" "" "pathogenic" "" "0000246757" "0" "70" "8" "24813749" "24813749" "subst" "0" "02330" "NEFL_000024" "g.24813749A>G" "" "" "" "NEFL(NM_006158.4):c.281T>C (p.L94P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24956235A>G" "" "likely pathogenic" "" "0000293019" "0" "10" "8" "24811784" "24811784" "subst" "1.62555E-5" "02330" "NEFL_000015" "g.24811784G>A" "" "" "" "NEFL(NM_006158.4):c.1080C>T (p.T360=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24954270G>A" "" "benign" "" "0000293020" "0" "10" "8" "24811681" "24811681" "subst" "2.03278E-5" "02330" "NEFL_000014" "g.24811681C>T" "" "" "" "NEFL(NM_006158.4):c.1169+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24954167C>T" "" "benign" "" "0000293021" "0" "90" "8" "24811293" "24811293" "subst" "0" "02330" "NEFL_000004" "g.24811293C>T" "" "" "" "NEFL(NM_006158.4):c.1186G>A (p.E396K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24953779C>T" "" "pathogenic" "" "0000293022" "0" "10" "8" "24811267" "24811267" "subst" "0.000354613" "02330" "NEFL_000012" "g.24811267G>A" "" "" "" "NEFL(NM_006158.4):c.1212C>T (p.S404=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24953753G>A" "" "benign" "" "0000293023" "0" "10" "8" "24813907" "24813907" "subst" "1.34235E-5" "02330" "NEFL_000029" "g.24813907G>A" "" "" "" "NEFL(NM_006158.4):c.123C>T (p.S41=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24956393G>A" "" "benign" "" "0000293024" "0" "10" "8" "24811077" "24811077" "subst" "0.00130876" "02330" "NEFL_000011" "g.24811077C>T" "" "" "" "NEFL(NM_006158.4):c.1402G>A (p.D468N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24953563C>T" "" "benign" "" "0000293025" "0" "10" "8" "24811071" "24811071" "del" "0" "02330" "NEFL_000009" "g.24811071del" "" "" "" "NEFL(NM_006158.4):c.1413delC (p.S472Lfs*78)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24953557del" "" "benign" "" "0000293026" "0" "10" "8" "24811021" "24811021" "subst" "0" "02330" "NEFL_000008" "g.24811021G>A" "" "" "" "NEFL(NM_006158.4):c.1457C>T (p.A486V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24953508G>A" "" "benign" "" "0000293029" "0" "10" "8" "24810380" "24810382" "del" "0" "02330" "NEFL_000005" "g.24810380_24810382del" "" "" "" "NEFL(NM_006158.4):c.1578_1580delGAG (p.E527del), NEFL(NM_006158.4):c.1579_1581delGAG (p.E527del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24952867_24952869del" "" "benign" "" "0000293031" "0" "10" "8" "24813838" "24813838" "subst" "0" "02330" "NEFL_000028" "g.24813838C>T" "" "" "" "NEFL(NM_006158.4):c.192G>A (p.L64=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24956324C>T" "" "benign" "" "0000293032" "0" "90" "8" "24814011" "24814011" "subst" "0" "02330" "NEFL_000007" "g.24814011C>T" "" "" "" "NEFL(NM_006158.4):c.19G>A (p.E7K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24956497C>T" "" "pathogenic" "" "0000293033" "0" "90" "8" "24814008" "24814008" "subst" "0" "02330" "NEFL_000036" "g.24814008G>T" "" "" "" "NEFL(NM_006158.4):c.22C>A (p.P8T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24956494G>T" "" "pathogenic" "" "0000293034" "0" "90" "8" "24814007" "24814007" "subst" "0" "02330" "NEFL_000069" "g.24814007G>T" "" "" "" "NEFL(NM_006158.4):c.23C>A (p.P8Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24956493G>T" "" "pathogenic" "" "0000293035" "0" "90" "8" "24814007" "24814007" "subst" "0" "02330" "NEFL_000034" "g.24814007G>C" "" "" "" "NEFL(NM_006158.4):c.23C>G (p.P8R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24956493G>C" "" "pathogenic" "" "0000293036" "0" "90" "8" "24814007" "24814007" "subst" "0" "02330" "NEFL_000035" "g.24814007G>A" "" "" "" "NEFL(NM_006158.4):c.23C>T (p.P8L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24956493G>A" "" "pathogenic" "" "0000293037" "0" "90" "8" "24813762" "24813762" "subst" "0" "02330" "NEFL_000026" "g.24813762C>T" "" "" "" "NEFL(NM_006158.4):c.268G>A (p.E90K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24956248C>T" "" "pathogenic" "" "0000293038" "0" "10" "8" "24813751" "24813751" "subst" "0.000120266" "02330" "NEFL_000025" "g.24813751C>T" "" "" "" "NEFL(NM_006158.4):c.279G>A (p.Q93=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24956237C>T" "" "benign" "" "0000293039" "0" "90" "8" "24813737" "24813737" "subst" "0" "02330" "NEFL_000070" "g.24813737T>C" "" "" "" "NEFL(NM_006158.4):c.293A>G (p.N98S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24956223T>C" "" "pathogenic" "" "0000293040" "0" "10" "8" "24813607" "24813607" "subst" "7.70977E-5" "02330" "NEFL_000022" "g.24813607C>T" "" "" "" "NEFL(NM_006158.4):c.423G>A (p.Q141=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24956093C>T" "" "benign" "" "0000293041" "0" "90" "8" "24813584" "24813584" "subst" "0" "02330" "NEFL_000033" "g.24813584G>A" "" "" "" "NEFL(NM_006158.4):c.446C>T (p.A149V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24956070G>A" "" "pathogenic" "" "0000293043" "0" "10" "8" "24813391" "24813391" "subst" "0.000698272" "02330" "NEFL_000020" "g.24813391G>C" "" "" "" "NEFL(NM_006158.4):c.639C>G (p.I213M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24955877G>C" "" "benign" "" "0000293044" "0" "90" "8" "24813966" "24813966" "subst" "0" "02330" "NEFL_000030" "g.24813966G>T" "" "" "" "NEFL(NM_006158.4):c.64C>A (p.P22T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24956452G>T" "" "pathogenic" "" "0000293045" "0" "90" "8" "24813966" "24813966" "subst" "0" "02330" "NEFL_000031" "g.24813966G>A" "" "" "" "NEFL(NM_006158.4):c.64C>T (p.P22S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24956452G>A" "" "pathogenic" "" "0000293046" "0" "10" "8" "24813310" "24813310" "subst" "4.0838E-6" "02330" "NEFL_000019" "g.24813310G>A" "" "" "" "NEFL(NM_006158.4):c.720C>T (p.Y240=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24955796G>A" "" "benign" "" "0000293047" "0" "90" "8" "24813035" "24813035" "subst" "0" "02330" "NEFL_000023" "g.24813035T>G" "" "" "" "NEFL(NM_006158.4):c.995A>C (p.Q332P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24955521T>G" "" "pathogenic" "" "0000296420" "0" "10" "8" "24811071" "24811071" "del" "0" "02325" "NEFL_000009" "g.24811071del" "" "" "" "NEFL(NM_006158.4):c.1413delC (p.S472Lfs*78)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24953557del" "" "benign" "" "0000438537" "1" "90" "8" "24813761" "24813761" "subst" "0" "02371" "NEFL_000038" "g.24813761T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.24956247T>C" "" "pathogenic" "" "0000443197" "21" "90" "8" "24811293" "24811293" "subst" "0" "01493" "NEFL_000004" "g.24811293C>T" "1/25" "" "" "" "" "Germline" "" "" "0" "" "" "g.24953779C>T" "" "pathogenic (dominant)" "" "0000443198" "21" "70" "8" "24811714" "24811714" "subst" "0" "01493" "NEFL_000067" "g.24811714T>A" "1/25" "" "" "" "" "Germline" "" "" "0" "" "" "g.24954200T>A" "" "likely pathogenic" "" "0000443199" "10" "90" "8" "24813966" "24813966" "subst" "0" "01493" "NEFL_000030" "g.24813966G>T" "1/25" "" "" "" "" "Germline" "" "rs28928910" "0" "" "" "g.24956452G>T" "" "pathogenic (dominant)" "" "0000443200" "0" "90" "8" "24811293" "24811293" "subst" "0" "00006" "NEFL_000004" "g.24811293C>T" "" "{PMID:Zuchner 2004:14733962}" "" "" "" "Germline" "" "" "0" "" "" "g.24953779C>T" "" "pathogenic" "" "0000443201" "0" "90" "8" "24811160" "24811160" "subst" "0" "00006" "NEFL_000068" "g.24811160G>A" "" "{PMID:Benedetti 2010:21149811}" "" "" "" "Germline" "" "rs587777882" "0" "" "" "g.24953646G>A" "" "pathogenic" "" "0000443202" "0" "90" "8" "24814011" "24814011" "subst" "0" "00006" "NEFL_000007" "g.24814011C>T" "" "{PMID:Jordanova 2003:12566280}" "" "" "" "Germline" "" "rs57848467" "0" "" "" "g.24956497C>T" "" "pathogenic" "" "0000443203" "0" "90" "8" "24814007" "24814007" "subst" "0" "00006" "NEFL_000069" "g.24814007G>T" "" "{PMID:Jordanova 2003:12566280}" "" "" "" "Germline" "" "rs61491953" "0" "" "" "g.24956493G>T" "" "pathogenic" "" "0000443204" "0" "90" "8" "24814007" "24814007" "subst" "0" "00006" "NEFL_000034" "g.24814007G>C" "" "{PMID:Jordanova 2003:12566280}" "" "" "" "Germline" "" "rs61491953" "0" "" "" "g.24956493G>C" "" "pathogenic" "" "0000443205" "0" "90" "8" "24814007" "24814007" "subst" "0" "00006" "NEFL_000035" "g.24814007G>A" "" "{PMID:Jordanova 2003:12566280}" "" "" "" "Germline" "" "rs61491953" "0" "" "" "g.24956493G>A" "" "pathogenic" "" "0000443206" "0" "90" "8" "24813762" "24813762" "subst" "0" "00006" "NEFL_000026" "g.24813762C>T" "" "{PMID:Jordanova 2003:12566280}" "" "" "" "Germline" "" "rs58332872" "0" "" "" "g.24956248C>T" "" "pathogenic" "" "0000443207" "0" "90" "8" "24813749" "24813749" "subst" "0" "00006" "NEFL_000024" "g.24813749A>G" "" "{PMID:Miltenberger-Miltenyi 2007:17620486}" "" "" "" "Germline" "" "rs62636505" "0" "" "" "g.24956235A>G" "" "pathogenic" "" "0000443208" "0" "90" "8" "24813737" "24813737" "subst" "0" "00006" "NEFL_000070" "g.24813737T>C" "" "{PMID:Yoshihara 2002:12477167}" "" "" "" "Germline" "" "rs58982919" "0" "" "" "g.24956223T>C" "" "pathogenic" "" "0000443209" "0" "90" "8" "24813612" "24813612" "subst" "0" "00006" "NEFL_000013" "g.24813612C>A" "" "{PMID:Abe 2009:19158810}" "" "" "" "Germline" "" "rs121913663" "0" "" "" "g.24956098C>A" "" "pathogenic" "" "0000443210" "0" "90" "8" "24813584" "24813584" "subst" "0" "00006" "NEFL_000033" "g.24813584G>A" "" "{PMID:Yoshihara 2002:12477167}" "" "" "" "Germline" "" "rs59101996" "0" "" "" "g.24956070G>A" "" "pathogenic" "" "0000443211" "0" "90" "8" "24813402" "24813402" "subst" "0" "00006" "NEFL_000037" "g.24813402C>A" "" "{PMID:Yum 2009:20039262}" "" "" "" "Germline" "" "rs199422214" "0" "" "" "g.24955888C>A" "" "pathogenic" "" "0000443212" "0" "90" "8" "24813966" "24813966" "subst" "0" "00006" "NEFL_000031" "g.24813966G>A" "" "{PMID:Georgiou 2002:12481988}" "" "" "" "Germline" "" "rs28928910" "0" "" "" "g.24956452G>A" "" "pathogenic" "" "0000443213" "0" "90" "8" "24813965" "24813965" "subst" "0" "00006" "NEFL_000017" "g.24813965G>C" "" "{PMID:Shin 2008:18758688}" "" "" "" "Germline" "" "rs267607538" "0" "" "" "g.24956451G>C" "" "pathogenic" "" "0000443214" "0" "90" "8" "24813227" "24813227" "subst" "0" "00006" "NEFL_000018" "g.24813227A>G" "" "{PMID:Fabrizi 2007:17052987}" "" "" "" "Germline" "" "rs62636502" "0" "" "" "g.24955713A>G" "" "pathogenic" "" "0000443215" "0" "90" "8" "24813035" "24813035" "subst" "0" "00006" "NEFL_000023" "g.24813035T>G" "" "{PMID:Mersiyanova 2000:10841809}" "" "" "" "Germline" "" "rs59443585" "0" "" "" "g.24955521T>G" "" "pathogenic" "" "0000443216" "0" "90" "8" "24813032" "24813032" "subst" "0" "00006" "NEFL_000021" "g.24813032A>G" "" "{PMID:Choi 2004:15241803}" "" "" "" "Germline" "" "rs60930717" "0" "" "" "g.24955518A>G" "" "pathogenic" "" "0000454986" "1" "90" "8" "24811293" "24811293" "subst" "0" "00006" "NEFL_000004" "g.24811293C>T" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "" "Germline" "" "" "0" "" "" "g.24953779C>T" "" "pathogenic" "" "0000454987" "1" "90" "8" "24813965" "24813965" "subst" "0" "00006" "NEFL_000017" "g.24813965G>C" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "" "Germline" "" "rs267607538" "0" "" "" "g.24956451G>C" "" "pathogenic" "" "0000454988" "1" "90" "8" "24813965" "24813965" "subst" "0" "00006" "NEFL_000017" "g.24813965G>C" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "" "Germline" "yes" "rs267607538" "0" "" "" "g.24956451G>C" "" "pathogenic" "" "0000454989" "1" "90" "8" "24813035" "24813035" "subst" "0" "00006" "NEFL_000023" "g.24813035T>G" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "" "Germline" "" "rs59443585" "0" "" "" "g.24955521T>G" "" "pathogenic" "" "0000470523" "0" "50" "8" "24813084" "24813089" "dup" "0" "01741" "NEFL_000039" "g.24813084_24813089dup" "" "" "" "" "The effect ist unknown, but a pathogenic tendency of this variant is assumed." "Germline/De novo (untested)" "" "" "0" "" "" "g.24955570_24955575dup" "" "VUS" "" "0000534610" "0" "30" "8" "24810383" "24810384" "ins" "0" "02330" "NEFL_000040" "g.24810383_24810384insC" "" "" "" "NEFL(NM_006158.4):c.1571_1572insG (p.E525Rfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24952870_24952871insC" "" "likely benign" "" "0000534611" "0" "10" "8" "24810436" "24810438" "del" "0" "02330" "NEFL_000041" "g.24810436_24810438del" "" "" "" "NEFL(NM_006158.4):c.1529_1531delAAG (p.E510del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24952923_24952925del" "" "benign" "" "0000534612" "0" "50" "8" "24811750" "24811750" "subst" "0" "02327" "NEFL_000042" "g.24811750A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24954236A>C" "" "VUS" "" "0000534613" "0" "30" "8" "24812902" "24812986" "del" "0" "02330" "NEFL_000043" "g.24812902_24812986del" "" "" "" "NEFL(NM_006158.4):c.1044+8_1044+92del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24955388_24955472del" "" "likely benign" "" "0000534614" "0" "50" "8" "24813234" "24813239" "del" "0" "02327" "NEFL_000044" "g.24813234_24813239del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24955720_24955725del" "" "VUS" "" "0000534615" "0" "10" "8" "24813363" "24813363" "subst" "0.00536954" "02330" "NEFL_000045" "g.24813363G>A" "" "" "" "NEFL(NM_006158.4):c.667C>T (p.L223=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24955849G>A" "" "benign" "" "0000534616" "0" "30" "8" "24813363" "24813363" "subst" "0.00536954" "01943" "NEFL_000045" "g.24813363G>A" "" "" "" "NEFL(NM_006158.4):c.667C>T (p.L223=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24955849G>A" "" "likely benign" "" "0000534617" "0" "10" "8" "24813448" "24813448" "subst" "0.00123529" "02330" "NEFL_000046" "g.24813448T>G" "" "" "" "NEFL(NM_006158.4):c.582A>C (p.E194D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24955934T>G" "" "benign" "" "0000534618" "0" "50" "8" "24813498" "24813498" "subst" "2.13939E-5" "02330" "NEFL_000047" "g.24813498A>T" "" "" "" "NEFL(NM_006158.4):c.532T>A (p.Y178N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24955984A>T" "" "VUS" "" "0000534619" "0" "50" "8" "24813734" "24813734" "subst" "0" "02327" "NEFL_000048" "g.24813734T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24956220T>G" "" "VUS" "" "0000534620" "0" "70" "8" "24813768" "24813768" "subst" "0" "02330" "NEFL_000049" "g.24813768T>G" "" "" "" "NEFL(NM_006158.4):c.262A>C (p.T88P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24956254T>G" "" "likely pathogenic" "" "0000534622" "0" "90" "8" "24813768" "24813768" "subst" "0" "02326" "NEFL_000049" "g.24813768T>G" "" "" "" "NEFL(NM_006158.4):c.262A>C (p.T88P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24956254T>G" "" "pathogenic" "" "0000534623" "0" "90" "8" "24813970" "24813971" "ins" "0" "02330" "NEFL_000050" "g.24813970_24813971insGCGCTACGTGGAG" "" "" "" "NEFL(NM_006158.4):c.59_60insCTCCACGTAGCGC (p.E20Dfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24956456_24956457insGCGCTACGTGGAG" "" "pathogenic" "" "0000534624" "0" "30" "8" "24813985" "24813985" "subst" "2.22076E-5" "02330" "NEFL_000051" "g.24813985C>T" "" "" "" "NEFL(NM_006158.4):c.45G>A (p.K15=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24956471C>T" "" "likely benign" "" "0000534625" "0" "10" "8" "24814071" "24814071" "del" "0" "02330" "NEFL_000052" "g.24814071del" "" "" "" "NEFL(NM_006158.4):c.-42delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24956557del" "" "benign" "" "0000595644" "0" "70" "8" "24813737" "24813737" "subst" "0" "01364" "NEFL_000055" "g.24813737T>G" "" "" "" "" "" "Germline" "" "rs58982919" "0" "" "" "g.24956223T>G" "" "likely pathogenic" "" "0000595645" "0" "70" "8" "24811164" "24811164" "subst" "0" "01364" "NEFL_000053" "g.24811164A>T" "" "" "" "" "" "Germline" "" "rs199775873" "0" "" "" "g.24953650A>T" "" "likely pathogenic" "" "0000595646" "0" "70" "8" "24813737" "24813737" "subst" "0" "01364" "NEFL_000070" "g.24813737T>G" "" "" "" "" "" "Germline" "" "rs58982919" "0" "" "" "g.24956223T>C" "" "likely pathogenic" "" "0000595647" "0" "70" "8" "24811301" "24811301" "subst" "0" "01364" "NEFL_000054" "g.24811301A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.24953787A>C" "" "likely pathogenic" "" "0000595648" "0" "30" "8" "24814007" "24814007" "subst" "0" "01364" "NEFL_000034" "g.24814007G>C" "" "" "" "" "" "Germline" "" "rs61491953" "0" "" "" "g.24956493G>C" "" "likely benign" "" "0000652479" "1" "30" "8" "24809223" "24809223" "subst" "0" "03575" "NEFL_000058" "g.24809223G>A" "51/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "51 heterozygous, no homozygous; {DB:CLININrs79736124}" "Germline" "" "rs79736124" "0" "" "" "g.24951710G>A" "" "likely benign" "" "0000652480" "1" "30" "8" "24813803" "24813803" "subst" "0.000712806" "03575" "NEFL_000027" "g.24813803A>G" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs58907919}" "Germline" "" "rs58907919" "0" "" "" "g.24956289A>G" "" "likely benign" "" "0000664028" "0" "90" "8" "24814007" "24814007" "subst" "0" "00006" "NEFL_000034" "g.24814007G>C" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "rs61491953" "0" "" "" "g.24956493G>C" "" "pathogenic (dominant)" "" "0000664029" "0" "90" "8" "24813737" "24813737" "subst" "0" "00006" "NEFL_000070" "g.24813737T>C" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "rs58982919" "0" "" "" "g.24956223T>C" "" "pathogenic (dominant)" "" "0000664030" "0" "90" "8" "24811293" "24811293" "subst" "0" "00006" "NEFL_000004" "g.24811293C>T" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "rs62636503" "0" "" "" "g.24953779C>T" "" "pathogenic (dominant)" "" "0000664093" "0" "70" "8" "24813731" "24813731" "subst" "0" "00006" "NEFL_000060" "g.24813731C>G" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "" "0" "" "" "g.24956217C>G" "" "likely pathogenic (dominant)" "" "0000664094" "0" "70" "8" "24813227" "24813227" "subst" "0" "00006" "NEFL_000059" "g.24813227A>C" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "rs62636502" "0" "" "" "g.24955713A>C" "" "likely pathogenic (dominant)" "" "0000664132" "0" "90" "8" "24814007" "24814007" "subst" "0" "00006" "NEFL_000034" "g.24814007G>C" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "rs61491953" "0" "" "" "g.24956493G>C" "" "pathogenic (dominant)" "" "0000678368" "0" "30" "8" "24812971" "24812971" "subst" "0" "02330" "NEFL_000061" "g.24812971C>G" "" "" "" "NEFL(NM_006158.4):c.1044+15G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678369" "0" "50" "8" "24813630" "24813630" "subst" "0" "02327" "NEFL_000062" "g.24813630G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000708995" "11" "90" "8" "24814007" "24814007" "subst" "0" "00006" "NEFL_000034" "g.24814007G>C" "" "{PMID:Lin 2011:232206013}" "" "" "" "Germline" "" "rs61491953" "0" "" "" "g.24956493G>C" "" "pathogenic (dominant)" "" "0000708996" "0" "90" "8" "24814007" "24814007" "subst" "0" "00006" "NEFL_000034" "g.24814007G>C" "" "{PMID:Lin 2011:232206013}" "" "" "" "Germline" "" "rs61491953" "0" "" "" "g.24956493G>C" "" "pathogenic (dominant)" "" "0000708997" "11" "90" "8" "24813966" "24813966" "subst" "0" "00006" "NEFL_000031" "g.24813966G>A" "" "{PMID:Lin 2011:232206013}" "" "" "" "Germline" "" "rs28928910" "0" "" "" "g.24956452G>A" "" "pathogenic (dominant)" "" "0000708998" "21" "90" "8" "24811293" "24811293" "subst" "0" "00006" "NEFL_000004" "g.24811293C>T" "" "{PMID:Lin 2011:232206013}" "" "" "" "Germline" "" "" "0" "" "" "g.24953779C>T" "" "pathogenic (dominant)" "" "0000708999" "0" "90" "8" "24811293" "24811293" "subst" "0" "00006" "NEFL_000004" "g.24811293C>T" "" "{PMID:Lin 2011:232206013}" "" "" "" "Germline" "" "" "0" "" "" "g.24953779C>T" "" "pathogenic (dominant)" "" "0000709000" "0" "90" "8" "24811293" "24811293" "subst" "0" "00006" "NEFL_000004" "g.24811293C>T" "" "{PMID:Lin 2011:232206013}" "" "" "" "Germline" "" "" "0" "" "" "g.24953779C>T" "" "pathogenic (dominant)" "" "0000721945" "0" "30" "8" "24813391" "24813391" "subst" "0.000698272" "01943" "NEFL_000020" "g.24813391G>C" "" "" "" "NEFL(NM_006158.4):c.639C>G (p.I213M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000786960" "3" "90" "8" "24811218" "24811218" "subst" "0" "00006" "NEFL_000063" "g.24811218G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.24953704G>A" "" "pathogenic" "" "0000787999" "0" "90" "8" "24813488" "24813488" "dup" "0" "01741" "NEFL_000064" "g.24813488dup" "" "" "" "" "pathogenic for \"Charcot-Marie-Tooth disease, dominant intermediate G\"" "Germline/De novo (untested)" "" "" "0" "" "" "g.24955974dup" "" "pathogenic" "" "0000803608" "0" "30" "8" "24810345" "24810345" "subst" "0.000422424" "01943" "NEFL_000065" "g.24810345T>C" "" "" "" "NEFL(NM_006158.4):c.1610A>G (p.Q537R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803609" "0" "50" "8" "24813749" "24813749" "subst" "0" "02330" "NEFL_000066" "g.24813749A>T" "" "" "" "NEFL(NM_006158.4):c.281T>A (p.L94H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803610" "0" "50" "8" "24813768" "24813768" "subst" "0" "01943" "NEFL_000049" "g.24813768T>G" "" "" "" "NEFL(NM_006158.4):c.262A>C (p.T88P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000830590" "0" "90" "8" "24813737" "24813737" "subst" "0" "04209" "NEFL_000070" "g.24813737T>C" "3/5 patients" "{PMID:Horga 2017:28501821}" "" "N98S" "" "De novo" "" "rs58982919" "0" "" "" "g.24956223T>C" "" "pathogenic (dominant)" "" "0000830850" "0" "90" "8" "24813737" "24813737" "subst" "0" "04209" "NEFL_000070" "g.24813737T>C" "3/5 patients" "{PMID:Horga 2017:28501821}" "" "N98S" "" "De novo" "" "rs58982919" "0" "" "" "g.24956223T>C" "" "pathogenic (dominant)" "" "0000830983" "0" "90" "8" "24813737" "24813737" "subst" "0" "04209" "NEFL_000070" "g.24813737T>C" "3/5 patients" "{PMID:Horga 2017:28501821}" "" "N98S" "" "De novo" "" "rs58982919" "0" "" "" "g.24956223T>C" "" "pathogenic (dominant)" "" "0000830988" "0" "90" "8" "24813098" "24813098" "subst" "0" "04209" "NEFL_000071" "g.24813098A>G" "1/5 cases" "{PMID:Horga 2017:28501821}" "" "L311P" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.24955584A>G" "" "pathogenic (dominant)" "" "0000831197" "0" "90" "8" "24814007" "24814007" "subst" "0" "00006" "NEFL_000034" "g.24814007G>C" "" "{PMID:Horga 2017:28501821}" "" "P8R" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.24956493G>C" "" "pathogenic (dominant)" "" "0000832799" "0" "90" "8" "24813236" "24813236" "subst" "0" "04209" "NEFL_000072" "g.24813236T>C" "" "{PMID:Machado 2019:31788662}" "" "" "" "Germline" "yes" "" "0" "" "" "g.24955722T>C" "RCV0001438101" "likely pathogenic (dominant)" "" "0000832800" "21" "90" "8" "24813236" "24813236" "subst" "0" "04209" "NEFL_000072" "g.24813236T>C" "" "{PMID:Machado 2019:31788662}" "" "" "" "Germline" "yes" "" "0" "" "" "g.24955722T>C" "RCV0001438101" "likely pathogenic (dominant)" "" "0000832860" "3" "90" "8" "24813543" "24813543" "subst" "0" "04209" "NEFL_000073" "g.24813543C>A" "" "{PMID:Fu 2017:29191368}" "" "" "variant not in 500 healthy controls" "Germline" "" "" "0" "" "" "g.24956029C>A" "" "pathogenic (recessive)" "" "0000842918" "11" "90" "8" "24813236" "24813236" "subst" "0" "00435" "NEFL_000072" "g.24813236T>C" "" "" "" "" "proband, affected father and brother heterozygous, unaffected mother/brothers did not carry variant" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "ACGS" "0000847176" "0" "90" "8" "24813737" "24813737" "subst" "0" "00006" "NEFL_000070" "g.24813737T>C" "" "{PMID:Thomas 2022:34085946}" "" "c.293A>G" "" "De novo" "" "" "0" "" "" "g.24956223T>C" "" "pathogenic" "" "0000847486" "0" "90" "8" "24813761" "24813761" "subst" "0" "00000" "NEFL_000038" "g.24813761T>C" "" "" "" "c.269A>G" "no second gene variant" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000847488" "0" "90" "8" "24813737" "24813737" "subst" "0" "00000" "NEFL_000070" "g.24813737T>C" "" "" "" "c.293A>G" "" "Germline" "" "rs58982919" "0" "" "" "" "" "pathogenic" "" "0000851899" "0" "10" "8" "24811072" "24811072" "subst" "0.001689" "02330" "NEFL_000075" "g.24811072C>T" "" "" "" "NEFL(NM_006158.4):c.1407G>A (p.E469=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000888315" "0" "10" "8" "24810380" "24810382" "del" "0" "02326" "NEFL_000005" "g.24810380_24810382del" "" "" "" "NEFL(NM_006158.4):c.1578_1580delGAG (p.E527del), NEFL(NM_006158.4):c.1579_1581delGAG (p.E527del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000888316" "0" "30" "8" "24813391" "24813391" "subst" "0.000698272" "02326" "NEFL_000020" "g.24813391G>C" "" "" "" "NEFL(NM_006158.4):c.639C>G (p.I213M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888317" "0" "10" "8" "24813446" "24813446" "subst" "0.000591179" "02330" "NEFL_000076" "g.24813446G>A" "" "" "" "NEFL(NM_006158.4):c.584C>T (p.A195V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912942" "0" "30" "8" "24813046" "24813046" "subst" "8.13266E-6" "02330" "NEFL_000077" "g.24813046C>A" "" "" "" "NEFL(NM_006158.4):c.984G>T (p.A328=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949063" "0" "50" "8" "24810441" "24810441" "subst" "2.04482E-5" "02330" "NEFL_000078" "g.24810441G>A" "" "" "" "NEFL(NM_006158.4):c.1514C>T (p.A505V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949064" "0" "50" "8" "24813692" "24813692" "subst" "0.000277495" "02330" "NEFL_000079" "g.24813692T>G" "" "" "" "NEFL(NM_006158.4):c.338A>C (p.Q113P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997123" "0" "10" "8" "24810345" "24810345" "subst" "0.000422424" "02330" "NEFL_000065" "g.24810345T>C" "" "" "" "NEFL(NM_006158.4):c.1610A>G (p.Q537R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001025515" "0" "30" "8" "24813583" "24813583" "subst" "0" "02330" "NEFL_000080" "g.24813583C>G" "" "" "" "NEFL(NM_006158.4):c.447G>C (p.A149=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025516" "0" "90" "8" "24814007" "24814007" "subst" "0" "02327" "NEFL_000035" "g.24814007G>A" "" "" "" "NEFL(NM_006158.4):c.23C>T (p.P8L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes NEFL ## Count = 123 "{{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}}" "0000063588" "00025355" "10" "1044" "46" "1044" "46" "c.1044+46G>A" "r.(=)" "p.(=)" "" "0000063589" "00025355" "10" "1044" "45" "1044" "45" "c.1044+45G>C" "r.(=)" "p.(=)" "" "0000063590" "00025355" "50" "935" "0" "935" "0" "c.935T>C" "r.(?)" "p.(Leu312Pro)" "" "0000246713" "00025355" "10" "227" "0" "227" "0" "c.227T>C" "r.(?)" "p.(Val76Ala)" "" "0000246722" "00025355" "10" "1170" "-13" "1170" "-13" "c.1170-13T>C" "r.(=)" "p.(=)" "" "0000246756" "00025355" "90" "998" "0" "998" "0" "c.998T>C" "r.(?)" "p.(Leu333Pro)" "" "0000246757" "00025355" "70" "281" "0" "281" "0" "c.281T>C" "r.(?)" "p.(Leu94Pro)" "" "0000293019" "00025355" "10" "1080" "0" "1080" "0" "c.1080C>T" "r.(?)" "p.(Thr360=)" "" "0000293020" "00025355" "10" "1169" "14" "1169" "14" "c.1169+14G>A" "r.(=)" "p.(=)" "" "0000293021" "00025355" "90" "1186" "0" "1186" "0" "c.1186G>A" "r.(?)" "p.(Glu396Lys)" "" "0000293022" "00025355" "10" "1212" "0" "1212" "0" "c.1212C>T" "r.(?)" "p.(Ser404=)" "" "0000293023" "00025355" "10" "123" "0" "123" "0" "c.123C>T" "r.(?)" "p.(Ser41=)" "" "0000293024" "00025355" "10" "1402" "0" "1402" "0" "c.1402G>A" "r.(?)" "p.(Asp468Asn)" "" "0000293025" "00025355" "10" "1406" "0" "1408" "0" "c.1406_1408=" "r.(=)" "p.(Glu469=)" "" "0000293026" "00025355" "10" "1457" "0" "1457" "0" "c.1457C>T" "r.(?)" "p.(Ala486Val)" "" "0000293029" "00025355" "10" "1579" "0" "1581" "0" "c.1579_1581del" "r.(?)" "p.(Glu527del)" "" "0000293031" "00025355" "10" "192" "0" "192" "0" "c.192G>A" "r.(?)" "p.(Leu64=)" "" "0000293032" "00025355" "90" "19" "0" "19" "0" "c.19G>A" "r.(?)" "p.(Glu7Lys)" "" "0000293033" "00025355" "90" "22" "0" "22" "0" "c.22C>A" "r.(?)" "p.(Pro8Thr)" "" "0000293034" "00025355" "90" "23" "0" "23" "0" "c.23C>A" "r.(?)" "p.(Pro8Gln)" "" "0000293035" "00025355" "90" "23" "0" "23" "0" "c.23C>G" "r.(?)" "p.(Pro8Arg)" "" "0000293036" "00025355" "90" "23" "0" "23" "0" "c.23C>T" "r.(?)" "p.(Pro8Leu)" "" "0000293037" "00025355" "90" "268" "0" "268" "0" "c.268G>A" "r.(?)" "p.(Glu90Lys)" "" "0000293038" "00025355" "10" "279" "0" "279" "0" "c.279G>A" "r.(?)" "p.(Gln93=)" "" "0000293039" "00025355" "90" "293" "0" "293" "0" "c.293A>G" "r.(?)" "p.(Asn98Ser)" "" "0000293040" "00025355" "10" "423" "0" "423" "0" "c.423G>A" "r.(?)" "p.(Gln141=)" "" "0000293041" "00025355" "90" "446" "0" "446" "0" "c.446C>T" "r.(?)" "p.(Ala149Val)" "" "0000293043" "00025355" "10" "639" "0" "639" "0" "c.639C>G" "r.(?)" "p.(Ile213Met)" "" "0000293044" "00025355" "90" "64" "0" "64" "0" "c.64C>A" "r.(?)" "p.(Pro22Thr)" "" "0000293045" "00025355" "90" "64" "0" "64" "0" "c.64C>T" "r.(?)" "p.(Pro22Ser)" "" "0000293046" "00025355" "10" "720" "0" "720" "0" "c.720C>T" "r.(?)" "p.(Tyr240=)" "" "0000293047" "00025355" "90" "995" "0" "995" "0" "c.995A>C" "r.(?)" "p.(Gln332Pro)" "" "0000296420" "00025355" "10" "1406" "0" "1408" "0" "c.1406_1408=" "r.(=)" "p.(Glu469=)" "" "0000438537" "00025355" "90" "269" "0" "269" "0" "c.269A>G" "r.(?)" "p.(Glu90Gly)" "" "0000443197" "00025355" "90" "1186" "0" "1186" "0" "c.1186G>A" "r.(?)" "p.(Glu396Lys)" "3" "0000443198" "00025355" "70" "1150" "0" "1150" "0" "c.1150A>T" "r.(?)" "p.(Ile384Phe)" "2" "0000443199" "00025355" "90" "64" "0" "64" "0" "c.64C>A" "r.(?)" "p.(Pro22Thr)" "1" "0000443200" "00025355" "90" "1186" "0" "1186" "0" "c.1186G>A" "r.(?)" "p.(Glu396Lys)" "3" "0000443201" "00025355" "90" "1319" "0" "1319" "0" "c.1319C>T" "r.(?)" "p.(Pro440Leu)" "3" "0000443202" "00025355" "90" "19" "0" "19" "0" "c.19G>A" "r.(?)" "p.(Glu7Lys)" "1" "0000443203" "00025355" "90" "23" "0" "23" "0" "c.23C>A" "r.(?)" "p.(Pro8Gln)" "1" "0000443204" "00025355" "90" "23" "0" "23" "0" "c.23C>G" "r.(?)" "p.(Pro8Arg)" "1" "0000443205" "00025355" "90" "23" "0" "23" "0" "c.23C>T" "r.(?)" "p.(Pro8Leu)" "1" "0000443206" "00025355" "90" "268" "0" "268" "0" "c.268G>A" "r.(?)" "p.(Glu90Lys)" "1" "0000443207" "00025355" "90" "281" "0" "281" "0" "c.281T>C" "r.(?)" "p.(Leu94Pro)" "1" "0000443208" "00025355" "90" "293" "0" "293" "0" "c.293A>G" "r.(?)" "p.(Asn98Ser)" "1" "0000443209" "00025355" "90" "418" "0" "418" "0" "c.418G>T" "r.(?)" "p.(Glu140*)" "1" "0000443210" "00025355" "90" "446" "0" "446" "0" "c.446C>T" "r.(?)" "p.(Ala149Val)" "1" "0000443211" "00025355" "90" "628" "0" "628" "0" "c.628G>T" "r.(?)" "p.(Glu210*)" "1" "0000443212" "00025355" "90" "64" "0" "64" "0" "c.64C>T" "r.(?)" "p.(Pro22Ser)" "1" "0000443213" "00025355" "90" "65" "0" "65" "0" "c.65C>G" "r.(?)" "p.(Pro22Arg)" "1" "0000443214" "00025355" "90" "803" "0" "803" "0" "c.803T>C" "r.(?)" "p.(Leu268Pro)" "1" "0000443215" "00025355" "90" "995" "0" "995" "0" "c.995A>C" "r.(?)" "p.(Gln332Pro)" "1" "0000443216" "00025355" "90" "998" "0" "998" "0" "c.998T>C" "r.(?)" "p.(Leu333Pro)" "1" "0000454986" "00025355" "90" "1186" "0" "1186" "0" "c.1186G>A" "r.(?)" "p.(Glu396Lys)" "" "0000454987" "00025355" "90" "65" "0" "65" "0" "c.65C>G" "r.(?)" "p.(Pro22Arg)" "" "0000454988" "00025355" "90" "65" "0" "65" "0" "c.65C>G" "r.(?)" "p.(Pro22Arg)" "" "0000454989" "00025355" "90" "995" "0" "995" "0" "c.995A>C" "r.(?)" "p.(Gln332Pro)" "" "0000470523" "00025355" "50" "943" "0" "948" "0" "c.943_948dup" "r.(?)" "p.(Lys315_Thr316dup)" "" "0000534610" "00025355" "30" "1571" "0" "1572" "0" "c.1571_1572insG" "r.(?)" "p.(Glu525ArgfsTer7)" "" "0000534611" "00025355" "10" "1529" "0" "1531" "0" "c.1529_1531del" "r.(?)" "p.(Glu510del)" "" "0000534612" "00025355" "50" "1114" "0" "1114" "0" "c.1114T>G" "r.(?)" "p.(Tyr372Asp)" "" "0000534613" "00025355" "30" "1044" "8" "1044" "92" "c.1044+8_1044+92del" "r.(=)" "p.(=)" "" "0000534614" "00025355" "50" "793" "0" "798" "0" "c.793_798del" "r.(?)" "p.(Tyr265_Glu266del)" "" "0000534615" "00025355" "10" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Leu223=)" "" "0000534616" "00025355" "30" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Leu223=)" "" "0000534617" "00025355" "10" "582" "0" "582" "0" "c.582A>C" "r.(?)" "p.(Glu194Asp)" "" "0000534618" "00025355" "50" "532" "0" "532" "0" "c.532T>A" "r.(?)" "p.(Tyr178Asn)" "" "0000534619" "00025355" "50" "296" "0" "296" "0" "c.296A>C" "r.(?)" "p.(Asp99Ala)" "" "0000534620" "00025355" "70" "262" "0" "262" "0" "c.262A>C" "r.(?)" "p.(Thr88Pro)" "" "0000534622" "00025355" "90" "262" "0" "262" "0" "c.262A>C" "r.(?)" "p.(Thr88Pro)" "" "0000534623" "00025355" "90" "59" "0" "60" "0" "c.59_60insCTCCACGTAGCGC" "r.(?)" "p.(Glu20AspfsTer4)" "" "0000534624" "00025355" "30" "45" "0" "45" "0" "c.45G>A" "r.(?)" "p.(Lys15=)" "" "0000534625" "00025355" "10" "-42" "0" "-42" "0" "c.-42del" "r.(?)" "p.(=)" "" "0000595644" "00025355" "70" "293" "0" "293" "0" "c.293A>C" "r.(?)" "p.(Asn98Thr)" "" "0000595645" "00025355" "70" "1315" "0" "1315" "0" "c.1315T>A" "r.(?)" "p.(Phe439Ile)" "" "0000595646" "00025355" "70" "293" "0" "293" "0" "c.293A>G" "r.(?)" "p.(Asn98Ser)" "" "0000595647" "00025355" "70" "1178" "0" "1178" "0" "c.1178T>G" "r.(?)" "p.(Leu393Trp)" "" "0000595648" "00025355" "30" "23" "0" "23" "0" "c.23C>G" "r.(?)" "p.(Pro8Arg)" "" "0000652479" "00025355" "30" "2733" "0" "2733" "0" "c.*1100C>T" "r.(=)" "p.(=)" "" "0000652480" "00025355" "30" "227" "0" "227" "0" "c.227T>C" "r.(?)" "p.(Val76Ala)" "" "0000664028" "00025355" "90" "23" "0" "23" "0" "c.23C>G" "r.(?)" "p.(Pro8Arg)" "" "0000664029" "00025355" "90" "293" "0" "293" "0" "c.293A>G" "r.(?)" "p.(Asn98Ser)" "" "0000664030" "00025355" "90" "1186" "0" "1186" "0" "c.1186G>A" "r.(?)" "p.(Glu396Lys)" "" "0000664093" "00025355" "70" "299" "0" "299" "0" "c.299G>C" "r.(?)" "p.(Arg100Pro)" "" "0000664094" "00025355" "70" "803" "0" "803" "0" "c.803T>G" "r.(?)" "p.(Leu268Arg)" "" "0000664132" "00025355" "90" "23" "0" "23" "0" "c.23C>G" "r.(?)" "p.(Pro8Arg)" "" "0000678368" "00025355" "30" "1044" "15" "1044" "15" "c.1044+15G>C" "r.(=)" "p.(=)" "" "0000678369" "00025355" "50" "400" "0" "400" "0" "c.400C>T" "r.(?)" "p.(Arg134Cys)" "" "0000708995" "00025355" "90" "23" "0" "23" "0" "c.23C>G" "r.(?)" "p.(Pro8Arg)" "" "0000708996" "00025355" "90" "23" "0" "23" "0" "c.23C>G" "r.(?)" "p.(Pro8Arg)" "" "0000708997" "00025355" "90" "64" "0" "64" "0" "c.64C>T" "r.(?)" "p.(Pro22Ser)" "" "0000708998" "00025355" "90" "1186" "0" "1186" "0" "c.1186G>A" "r.(?)" "p.(Glu396Lys)" "" "0000708999" "00025355" "90" "1186" "0" "1186" "0" "c.1186G>A" "r.(?)" "p.(Glu396Lys)" "" "0000709000" "00025355" "90" "1186" "0" "1186" "0" "c.1186G>A" "r.(?)" "p.(Glu396Lys)" "" "0000721945" "00025355" "30" "639" "0" "639" "0" "c.639C>G" "r.(?)" "p.(Ile213Met)" "" "0000786960" "00025355" "90" "1261" "0" "1261" "0" "c.1261C>T" "r.(?)" "p.(Arg421Ter)" "3" "0000787999" "00025355" "90" "542" "0" "542" "0" "c.542dup" "r.(?)" "p.(Val182Glyfs*96)" "1" "0000803608" "00025355" "30" "1610" "0" "1610" "0" "c.1610A>G" "r.(?)" "p.(Gln537Arg)" "" "0000803609" "00025355" "50" "281" "0" "281" "0" "c.281T>A" "r.(?)" "p.(Leu94His)" "" "0000803610" "00025355" "50" "262" "0" "262" "0" "c.262A>C" "r.(?)" "p.(Thr88Pro)" "" "0000830590" "00025355" "90" "293" "0" "293" "0" "c.293A>G" "r.(?)" "p.(Asn98Ser)" "1" "0000830850" "00025355" "90" "293" "0" "293" "0" "c.293A>G" "r.(?)" "p.(Asn98Ser)" "1" "0000830983" "00025355" "90" "293" "0" "293" "0" "c.293A>G" "r.(?)" "p.(Asn98Ser)" "1" "0000830988" "00025355" "90" "932" "0" "932" "0" "c.932T>C" "r.(?)" "p.(Leu311Pro)" "1" "0000831197" "00025355" "90" "23" "0" "23" "0" "c.23C>G" "r.(?)" "p.(Pro8Arg)" "" "0000832799" "00025355" "90" "794" "0" "794" "0" "c.794A>G" "r.(?)" "(p.Tyr265Cys)" "" "0000832800" "00025355" "90" "794" "0" "794" "0" "c.794A>G" "r.(?)" "(p.Tyr265Cys)" "" "0000832860" "00025355" "90" "487" "0" "487" "0" "c.487G>T" "r.(?)" "(p.Glu163*)" "" "0000842918" "00025355" "90" "794" "0" "794" "0" "c.794A>G" "r.(?)" "p.(Tyr265Cys)" "1" "0000847176" "00025355" "90" "293" "0" "293" "0" "c.293A>G" "r.(?)" "p.(Asn98Ser)" "" "0000847486" "00025355" "90" "269" "0" "269" "0" "c.269A>G" "r.?" "p.?" "1" "0000847488" "00025355" "90" "293" "0" "293" "0" "c.293A>G" "r.?" "p.?" "1" "0000851899" "00025355" "10" "1407" "0" "1407" "0" "c.1407delinsAC" "r.(?)" "p.(Ser472Leufs*2)" "" "0000888315" "00025355" "10" "1579" "0" "1581" "0" "c.1579_1581del" "r.(?)" "p.(Glu527del)" "" "0000888316" "00025355" "30" "639" "0" "639" "0" "c.639C>G" "r.(?)" "p.(Ile213Met)" "" "0000888317" "00025355" "10" "584" "0" "584" "0" "c.584C>T" "r.(?)" "p.(Ala195Val)" "" "0000912942" "00025355" "30" "984" "0" "984" "0" "c.984G>T" "r.(?)" "p.(Ala328=)" "" "0000949063" "00025355" "50" "1515" "0" "1515" "0" "c.1515C>T" "r.(?)" "p.?" "" "0000949064" "00025355" "50" "338" "0" "338" "0" "c.338A>C" "r.(?)" "p.?" "" "0000997123" "00025355" "10" "1610" "0" "1610" "0" "c.1610A>G" "r.(?)" "p.(Gln537Arg)" "" "0001025515" "00025355" "30" "447" "0" "447" "0" "c.447G>C" "r.(?)" "p.?" "" "0001025516" "00025355" "90" "23" "0" "23" "0" "c.23C>T" "r.(?)" "p.(Pro8Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 62 "{{screeningid}}" "{{variantid}}" "0000036463" "0000063588" "0000036464" "0000063589" "0000036465" "0000063590" "0000208620" "0000438537" "0000211601" "0000443197" "0000211602" "0000443198" "0000211603" "0000443199" "0000211604" "0000443200" "0000211605" "0000443201" "0000211606" "0000443202" "0000211607" "0000443203" "0000211608" "0000443204" "0000211609" "0000443205" "0000211610" "0000443206" "0000211611" "0000443207" "0000211612" "0000443208" "0000211613" "0000443209" "0000211614" "0000443210" "0000211615" "0000443211" "0000211616" "0000443212" "0000211617" "0000443213" "0000211618" "0000443214" "0000211619" "0000443215" "0000211620" "0000443216" "0000220093" "0000454986" "0000220094" "0000454987" "0000220095" "0000454988" "0000220096" "0000454989" "0000229335" "0000470523" "0000265061" "0000595644" "0000265062" "0000595645" "0000265063" "0000595646" "0000265064" "0000595647" "0000265065" "0000595648" "0000295790" "0000652479" "0000295791" "0000652480" "0000301133" "0000664028" "0000301134" "0000664029" "0000301135" "0000664030" "0000301198" "0000664093" "0000301199" "0000664094" "0000301237" "0000664132" "0000325835" "0000708995" "0000325836" "0000708996" "0000325837" "0000708997" "0000325838" "0000708998" "0000325839" "0000708999" "0000325840" "0000709000" "0000375609" "0000786960" "0000376401" "0000787999" "0000398379" "0000830590" "0000398634" "0000830850" "0000398742" "0000830983" "0000398757" "0000830988" "0000398903" "0000831197" "0000400049" "0000832799" "0000400050" "0000832800" "0000400095" "0000832860" "0000406338" "0000842918" "0000409960" "0000847176" "0000410218" "0000847486" "0000410220" "0000847488"