### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SORD) # 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}}" "SORD" "sorbitol dehydrogenase" "15" "q15-q21.1" "unknown" "NC_000015.9" "UD_132319904083" "" "https://www.LOVD.nl/SORD" "" "1" "11184" "6652" "182500" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/SORD_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-05-10 10:23:35" "00006" "2026-03-06 17:26:39" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00020025" "SORD" "transcript variant 1" "002" "NM_003104.5" "" "NP_003095.2" "" "" "" "-180" "2633" "1074" "45315302" "45367287" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{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" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04670" "HMNR8" "cataract, congenital?neuronopathy, distal hereditary motor, autosomal recessive,type 8" "AR" "618912" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2026-03-06 19:35:50" "05113" "CMT" "Charcot-Marie-Tooth disease (CMT)" "" "" "" "" "" "00006" "2016-01-11 01:40:57" "" "" "05123" "SMA" "atrophy, muscular, spinal (SMA)" "" "" "" "" "" "00006" "2016-01-24 01:41:54" "" "" "05384" "neuropathy" "neuropathy" "" "" "" "" "" "00006" "2018-01-27 20:34:06" "" "" "07236" "motor neuron disease" "motor neuron disease" "" "" "" "" "" "00006" "2026-03-03 15:11:15" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SORD" "04670" ## Individuals ## Do not remove or alter this header ## ## Count = 60 "{{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}}" "00301208" "" "" "" "2" "" "00006" "{PMID:Cortese 2020:32367058}" "Family, 2 affected" "F" "" "United States" "" "0" "" "" "white" "Fam1Case1" "00301209" "" "" "00301208" "1" "" "00006" "{PMID:Cortese 2020:32367058}" "" "F" "" "United States" "" "0" "" "" "white" "Fam1Case2" "00301210" "" "" "" "1" "" "00006" "{PMID:Cortese 2020:32367058}" "no Family history" "M" "" "Greece" "" "0" "" "" "white" "Fam2Case3" "00301211" "" "" "" "1" "" "00006" "{PMID:Cortese 2020:32367058}" "no Family history" "M" "" "France" "" "0" "" "" "white" "Fam3Case4" "00301212" "" "" "" "1" "" "00006" "{PMID:Cortese 2020:32367058}" "no Family history" "M" "" "Netherlands" "" "0" "" "" "white" "Fam4Case5" "00301213" "" "" "" "1" "" "00006" "{PMID:Cortese 2020:32367058}" "no Family history" "M" "" "United States" "" "0" "" "" "white" "Fam5Case6" "00301214" "" "" "" "1" "" "00006" "{PMID:Cortese 2020:32367058}" "no Family history" "F" "" "United States" "" "0" "" "" "white" "Fam6Case7" "00301215" "" "" "" "1" "" "00006" "{PMID:Cortese 2020:32367058}" "Family history" "M" "" "Iraq" "" "0" "" "" "Middle Eastern" "Fam7Case8" "00301216" "" "" "" "1" "" "00006" "{PMID:Cortese 2020:32367058}" "no Family history" "F" "" "United States" "" "0" "" "" "white" "Fam8Case9" "00301217" "" "" "" "1" "" "00006" "{PMID:Cortese 2020:32367058}" "no Family history" "M" "" "United States" "" "0" "" "" "white" "Fam9Case10" "00301218" "" "" "" "1" "" "00006" "{PMID:Cortese 2020:32367058}" "no Family history" "F" "" "United States" "" "0" "" "" "white;African American" "Fam10Case11" "00301219" "" "" "" "1" "" "00006" "{PMID:Cortese 2020:32367058}" "no Family history" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Fam11Case12" "00301220" "" "" "" "1" "" "00006" "{PMID:Cortese 2020:32367058}" "no Family history" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Fam12Case13" "00301221" "" "" "" "1" "" "00006" "{PMID:Cortese 2020:32367058}" "no Family history" "M" "" "Germany" "" "0" "" "" "white" "Fam13Case14" "00301222" "" "" "" "2" "" "00006" "{PMID:Cortese 2020:32367058}" "Family, 2 affected" "M" "" "Austria" "" "0" "" "" "white" "Fam14Case15II1" "00301223" "" "" "00301222" "1" "" "00006" "{PMID:Cortese 2020:32367058}" "" "F" "" "Austria" "" "0" "" "" "white" "Fam14Case16II2" "00301224" "" "" "" "1" "" "00006" "{PMID:Cortese 2020:32367058}" "no Family history" "F" "" "Egypt" "" "0" "" "" "Middle Eastern, Bedouin" "Fam15Case17" "00301225" "" "" "" "1" "" "00006" "{PMID:Cortese 2020:32367058}" "no Family history" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Fam16Case18" "00301226" "" "" "" "1" "" "00006" "{PMID:Cortese 2020:32367058}" "no Family history" "M" "" "Singapore" "" "0" "" "" "East Asian" "Fam17Case19" "00301227" "" "" "" "2" "" "00006" "{PMID:Cortese 2020:32367058}" "Family, 2 affected" "F" "" "Egypt" "" "0" "" "" "Middle Eastern" "Fam18Case20II2" "00301228" "" "" "00301227" "1" "" "00006" "{PMID:Cortese 2020:32367058}" "" "M" "" "Egypt" "" "0" "" "" "Middle Eastern" "Fam18Case21II3" "00301229" "" "" "" "3" "" "00006" "{PMID:Cortese 2020:32367058}" "Family, 3 affected" "M" "" "Egypt" "" "0" "" "" "Middle Eastern" "Fam19Case22I1" "00301230" "" "" "00301229" "1" "" "00006" "{PMID:Cortese 2020:32367058}" "" "M" "" "Egypt" "" "0" "" "" "Middle Eastern" "Fam19Case23II2" "00301231" "" "" "00301229" "1" "" "00006" "{PMID:Cortese 2020:32367058}" "" "M" "" "Egypt" "" "0" "" "" "Middle Eastern" "Fam19Case24II3" "00301232" "" "" "" "1" "" "00006" "{PMID:Cortese 2020:32367058}" "Family history" "M" "" "Kuwait" "" "0" "" "" "Middle Eastern" "Fam20Case25II3" "00301233" "" "" "" "1" "" "00006" "{PMID:Cortese 2020:32367058}" "no Family history" "F" "" "Italy" "" "0" "" "" "white" "Fam21Case26" "00301234" "" "" "" "1" "" "00006" "{PMID:Cortese 2020:32367058}" "Family history" "M" "" "Italy" "" "0" "" "" "white" "Fam22Case27" "00301235" "" "" "" "2" "" "00006" "{PMID:Cortese 2020:32367058}" "Family, 2 affected" "M" "" "Italy" "" "0" "" "" "white" "Fam23Case28II1" "00301236" "" "" "00301235" "1" "" "00006" "{PMID:Cortese 2020:32367058}" "" "F" "" "Italy" "" "0" "" "" "white" "Fam23Case29II2" "00301237" "" "" "" "1" "" "00006" "{PMID:Cortese 2020:32367058}" "no Family history" "F" "" "Italy" "" "0" "" "" "white" "Fam24Case30" "00301238" "" "" "" "1" "" "00006" "{PMID:Cortese 2020:32367058}" "no Family history" "M" "" "Italy" "" "0" "" "" "white" "Fam25Case31" "00301239" "" "" "" "1" "" "00006" "{PMID:Cortese 2020:32367058}" "no Family history" "M" "" "Italy" "" "0" "" "" "white" "Fam26Case32" "00301240" "" "" "" "1" "" "00006" "{PMID:Cortese 2020:32367058}" "no Family history" "M" "" "Italy" "" "0" "" "" "white" "Fam27Case33" "00301241" "" "" "" "2" "" "00006" "{PMID:Cortese 2020:32367058}" "Family, 2 affected" "F" "" "Italy" "" "0" "" "" "white" "Fam28Case34" "00301242" "" "" "00301241" "1" "" "00006" "{PMID:Cortese 2020:32367058}" "" "F" "" "Italy" "" "0" "" "" "white" "Fam28Case35" "00301243" "" "" "" "1" "" "00006" "{PMID:Cortese 2020:32367058}" "no Family history" "M" "" "Italy" "" "0" "" "" "white" "Fam29Case36" "00301244" "" "" "" "1" "" "00006" "{PMID:Cortese 2020:32367058}" "no Family history" "M" "" "Italy" "" "0" "" "" "white" "Fam30Case37" "00301245" "" "" "" "1" "" "00006" "{PMID:Cortese 2020:32367058}" "no Family history" "M" "" "Italy" "" "0" "" "" "white" "Fam31Case38" "00301246" "" "" "" "1" "" "00006" "{PMID:Cortese 2020:32367058}" "no Family history" "M" "" "Italy" "" "0" "" "" "white" "Fam32Case39" "00301247" "" "" "" "1" "" "00006" "{PMID:Cortese 2020:32367058}" "no Family history" "M" "" "Italy" "" "0" "" "" "white" "Fam33Case40" "00301248" "" "" "" "1" "" "00006" "{PMID:Cortese 2020:32367058}" "no Family history" "M" "" "United States" "" "0" "" "" "white" "Fam34Case41" "00301249" "" "" "" "1" "" "00006" "{PMID:Cortese 2020:32367058}" "no Family history" "M" "" "United States" "" "0" "" "" "Native American (Alaska);white" "Fam35Case42" "00301250" "" "" "" "1" "" "00006" "{PMID:Cortese 2020:32367058}" "sporadic" "M" "" "China" "" "0" "" "" "Chinese, Han" "Fam36Case43" "00301251" "" "" "" "1" "" "00006" "{PMID:Cortese 2020:32367058}" "sporadic" "M" "" "China" "" "0" "" "" "Chinese, Han" "Fam37Case44" "00301252" "" "" "" "1" "" "00006" "{PMID:Cortese 2020:32367058}" "sporadic" "M" "" "China" "" "0" "" "" "Chinese, Han" "Fam38Case45" "00334673" "" "" "" "5" "" "00000" "{PMID:Maranhao 2015:26352687}" "analysis 25 Pedigrees" "" "" "Pakistan" "" "0" "" "" "" "" "00334674" "" "" "" "5" "" "00000" "{PMID:Maranhao 2015:26352687}" "analysis 25 Pedigrees" "" "" "Pakistan" "" "0" "" "" "" "" "00334675" "" "" "" "8" "" "00000" "{PMID:Maranhao 2015:26352687}" "analysis 25 Pedigrees" "" "" "Pakistan" "" "0" "" "" "" "" "00404075" "" "" "" "9" "" "00435" "" "" "M" "no" "Egypt" "" "" "" "" "" "" "00404076" "" "" "" "4" "" "00435" "" "" "F" "" "Egypt" "" "" "" "" "" "" "00472265" "" "" "" "1" "" "04653" "Verebi et al. (submitted)" "" "M" "" "France" "" "0" "" "" "" "" "00472917" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "M" "no" "Iran" "" "0" "" "" "" "Fam105336Pat14" "00473063" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "F" "yes" "Iran" "" "0" "" "" "" "Fam12759Pat177" "00473162" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam104167Pat310" "00473190" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam107213Pat363" "00473411" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, 2 affected sibs, family history" "F" "no" "Iran" "" "0" "" "" "" "Fam208802Pat709" "00473457" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "M" "no" "Iran" "" "0" "" "" "" "Fam212187Pat784" "00473753" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam9609562Pat1205" "00473920" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam9901122Pat1441" "00473986" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "M" "no" "Iran" "" "0" "" "" "" "Fam9915399Pat1522" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 60 "{{individualid}}" "{{diseaseid}}" "00301208" "05384" "00301209" "05384" "00301210" "05384" "00301211" "05384" "00301212" "05384" "00301213" "05384" "00301214" "05384" "00301215" "05384" "00301216" "05384" "00301217" "05384" "00301218" "05384" "00301219" "05384" "00301220" "05384" "00301221" "05384" "00301222" "05384" "00301223" "05384" "00301224" "05384" "00301225" "05384" "00301226" "05384" "00301227" "05384" "00301228" "05384" "00301229" "05384" "00301230" "05384" "00301231" "05384" "00301232" "05384" "00301233" "05384" "00301234" "05384" "00301235" "05384" "00301236" "05384" "00301237" "05384" "00301238" "05384" "00301239" "05384" "00301240" "05384" "00301241" "05384" "00301242" "05384" "00301243" "05384" "00301244" "05384" "00301245" "05384" "00301246" "05384" "00301247" "05384" "00301248" "05384" "00301249" "05384" "00301250" "05384" "00301251" "05384" "00301252" "05384" "00334673" "04214" "00334674" "04214" "00334675" "04214" "00404075" "05113" "00404076" "00199" "00472265" "00198" "00472917" "05384" "00473063" "05113" "00473162" "05384" "00473190" "05113" "00473411" "00198" "00473457" "05113" "00473753" "05113" "00473920" "05123" "00473986" "07236" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00199, 04214, 04670, 05113, 05123, 05384, 07236 ## Count = 57 "{{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/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000228476" "05384" "00301208" "00006" "Familial, autosomal recessive" "43y" "mild severity; axonal motor NCS motor NCS" "10y" "" "walking difficulties" "" "" "" "" "" "CMT2" "" "0000228477" "05384" "00301209" "00006" "Familial, autosomal recessive" "38y" "mild severity; axonal motor NCS" "10y" "" "distal atrophy of lower limbs" "" "" "" "" "" "CMT2" "" "0000228478" "05384" "00301210" "00006" "Familial, autosomal recessive" "39y" "mild severity; axonal motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs absent; Rapid onset after flu-like syndrome, upper limb tremor" "15y" "" "unable to stand on toes and heels" "" "" "" "" "" "CMT2 (motor predominant)" "" "0000228479" "05384" "00301211" "00006" "Familial, autosomal recessive" "17y" "moderate severity; intermediate motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs reduced; upper limb tremor, mild hearing loss" "13y" "" "difficulties running and jumping, ankle sprains" "" "" "" "" "" "CMT intermediate" "" "0000228480" "05384" "00301212" "00006" "Familial, autosomal recessive" "20y" "mild severity; axonal motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs normal; muscle ache, raised CK up to 1200 IU, scapular winging" "14y" "" "unable to stand on toes, walking difficulties" "" "" "" "" "" "CMT2 (motor predominant)" "" "0000228481" "05384" "00301213" "00006" "Familial, autosomal recessive" "23y" "mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal; upper limb tremor" "12y" "" "walking and running difficulties, decreased sport performance" "" "" "" "" "" "dHMN" "" "0000228482" "05384" "00301214" "00006" "Familial, autosomal recessive" "59y" "mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal" "28y" "" "unsteadiness" "" "" "" "" "" "dHMN" "" "0000228483" "05384" "00301215" "00006" "Familial, autosomal recessive" "29y" "mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs reduced" "14y" "" "not available" "" "" "" "" "" "dHMN" "" "0000228484" "05384" "00301216" "00006" "Familial, autosomal recessive" "32y" "mild severity; intermediate motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal; rapid worsening" "20y" "" "balance problems during pregnancy" "" "" "" "" "" "dHMN" "" "0000228485" "05384" "00301217" "00006" "Familial, autosomal recessive" "15y" "mild severity; intermediate motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs normal; upper limb tremor" "12y" "" "walking difficulty" "" "" "" "" "" "CMT intermediate" "" "0000228486" "05384" "00301218" "00006" "Familial, autosomal recessive" "23y" "mild severity; intermediate motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs reduced" "12y" "" "walking difficulty" "" "" "" "" "" "CMT2" "" "0000228487" "05384" "00301219" "00006" "Familial, autosomal recessive" "34y" "mild severity; axonal motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs normal; stress fractures" "15y" "" "unable to stand on toes" "" "" "" "" "" "dHMN" "" "0000228488" "05384" "00301220" "00006" "Familial, autosomal recessive" "43y" "moderate severity; axonal motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs normal; Left peroneal nerve mononeuropathy" "13y" "" "unable to stand on toes" "" "" "" "" "" "dHMN" "" "0000228489" "05384" "00301221" "00006" "Familial, autosomal recessive" "34y" "mild severity; axonal motor NCS; sensory NCS lower limbs normal; Complex ataxo-spastic syndrome entailing mental retardation (since age 3), coarse facial features, bulky stature" "29y" "" "walking difficulties" "" "" "" "" "" "complex CMT2" "" "0000228490" "05384" "00301222" "00006" "Familial, autosomal recessive" "27y" "moderate severity; intermediate motor NCS; sensory NCS upper limbs reducedl; upper limb distal weakness and tremor" "10y" "" "walking difficulties" "" "" "" "" "" "CMT2" "" "0000228491" "05384" "00301223" "00006" "Familial, autosomal recessive" "36y" "mild severity; intermediate motor NCS; sensory NCS upper limbs reducedl" "20y" "" "walking difficulties" "" "" "" "" "" "CMT2" "" "0000228492" "05384" "00301224" "00006" "Familial, autosomal recessive" "28y" "mild severity; axonal motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs reduced; upper limb tremor" "18y" "" "unable to stand on toes, unable to wear high heels" "" "" "" "" "" "dHMN" "" "0000228493" "05384" "00301225" "00006" "Familial, autosomal recessive" "55y" "mild severity; axonal motor NCS; sensory NCS upper limbs absent, sensory NCS lower limbs normal" "15y" "" "walking difficulties" "" "" "" "" "" "dHMN" "" "0000228494" "05384" "00301226" "00006" "Familial, autosomal recessive" "23y" "moderate severity; axonal motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs normal" "12y" "" "walking and running difficulties" "" "" "" "" "" "CMT intermediate" "" "0000228495" "05384" "00301227" "00006" "Familial, autosomal recessive" "20y" "moderate severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs absent; burning pain in hands and feet" "12y" "" "walking difficulties" "" "" "" "" "" "CMT2" "" "0000228496" "05384" "00301228" "00006" "Familial, autosomal recessive" "17y" "moderate severity; intermediate motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs absent" "15y" "" "walking difficulties" "" "" "" "" "" "CMT2" "" "0000228497" "05384" "00301229" "00006" "Familial, autosomal recessive" "70y" "severe severity" "40y" "" "walking difficulties" "" "" "" "" "" "CMT2" "" "0000228498" "05384" "00301230" "00006" "Familial, autosomal recessive" "39y" "moderate severity" "29y" "" "walking difficulties" "" "" "" "" "" "CMT2" "" "0000228499" "05384" "00301231" "00006" "Familial, autosomal recessive" "19y" "mild severity" "16y" "" "walking difficulties" "" "" "" "" "" "CMT2" "" "0000228500" "05384" "00301232" "00006" "Familial, autosomal recessive" "26y" "mild severity; intermediate motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs reduced" "18y" "" "Difficulties running and jumping" "" "" "" "" "" "CMT2 (motor predominant)" "" "0000228501" "05384" "00301233" "00006" "Familial, autosomal recessive" "29y" "moderate severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs reduced" "20y" "" "walking difficulties" "" "" "" "" "" "CMT2 (motor predominant)" "" "0000228502" "05384" "00301234" "00006" "Familial, autosomal recessive" "31y" "mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal" "15y" "" "distal atrophy of lower limbs" "" "" "" "" "" "dHMN" "" "0000228503" "05384" "00301235" "00006" "Familial, autosomal recessive" "52y" "mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal; epilepsy, vascular encephalopathy, upper limb tremor, scoliosis. Has a normal sural nerve biopsy" "25y" "" "walking difficulties" "" "" "" "" "" "dHMN" "" "0000228504" "05384" "00301236" "00006" "Familial, autosomal recessive" "45y" "mild severity; axonal motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs reduced" "20y" "" "pes cavus" "" "" "" "" "" "CMT2" "" "0000228505" "05384" "00301237" "00006" "Familial, autosomal recessive" "42y" "moderate severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal; brisk reflexes" "20y" "" "walking difficulties" "" "" "" "" "" "dHMN" "" "0000228506" "05384" "00301238" "00006" "Familial, autosomal recessive" "46y" "mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal" "14y" "" "walking difficulties" "" "" "" "" "" "dHMN" "" "0000228507" "05384" "00301239" "00006" "Familial, autosomal recessive" "41y" "moderate severity; axonal motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs normal; split hand" "12y" "" "walking difficulties" "" "" "" "" "" "CMT2 (motor predominant)" "" "0000228508" "05384" "00301240" "00006" "Familial, autosomal recessive" "28y" "moderate severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal; scoliosis, raised CK" "13y" "" "walking difficulties" "" "" "" "" "" "dHMN" "" "0000228509" "05384" "00301241" "00006" "Familial, autosomal recessive" "48y" "mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal; brisk reflexes" "40y" "" "walking difficulties" "" "" "" "" "" "dHMN" "" "0000228510" "05384" "00301242" "00006" "Familial, autosomal recessive" "52y" "mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal; brisk reflexes" "20y" "" "walking difficulties" "" "" "" "" "" "dHMN" "" "0000228511" "05384" "00301243" "00006" "Familial, autosomal recessive" "41y" "moderate severity; axonal motor NCS; sensory NCS upper limbs absent, sensory NCS lower limbs absent; scoliosis" "2y" "" "retarded developmental milestone" "" "" "" "" "" "CMT2" "" "0000228512" "05384" "00301244" "00006" "Familial, autosomal recessive" "18y" "mild severity; intermediate motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs absent" "15y" "" "falls" "" "" "" "" "" "CMT2" "" "0000228513" "05384" "00301245" "00006" "Familial, autosomal recessive" "42y" "moderate severity; intermediate motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs absent; scoliosis" "30y" "" "walking difficulties" "" "" "" "" "" "CMT2" "" "0000228514" "05384" "00301246" "00006" "Familial, autosomal recessive" "29y" "mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal; raised CK" "18y" "" "walking difficulties, cramps" "" "" "" "" "" "dHMN" "" "0000228515" "05384" "00301247" "00006" "Familial, autosomal recessive" "60y" "moderate severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs reduced; mild hearing loss" "15y" "" "falls" "" "" "" "" "" "CMT2 (motor predominant)" "" "0000228516" "05384" "00301248" "00006" "Familial, autosomal recessive" "36y" "mild severity; intermediate motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal" "25y" "" "distal atrophy of lower limbs" "" "" "" "" "" "CMT intermediate" "" "0000228517" "05384" "00301249" "00006" "Familial, autosomal recessive" "16y" "mild severity; axonal motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs normal" "12y" "" "running difficulties" "" "" "" "" "" "dHMN" "" "0000228518" "05384" "00301250" "00006" "Familial, autosomal recessive" "29y" "mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal" "10y" "" "foot drop and walking difficulties" "" "" "" "" "" "CMT2 (motor predominant)" "" "0000228519" "05384" "00301251" "00006" "Familial, autosomal recessive" "24y" "mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs reduced" "10y" "" "walking difficulties" "" "" "" "" "" "CMT2" "" "0000228520" "05384" "00301252" "00006" "Familial, autosomal recessive" "26y" "mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs reduced" "16y" "" "walking difficulties" "" "" "" "" "" "CMT2" "" "0000296667" "05113" "00404075" "00435" "Familial, autosomal recessive" "72y" "72-y old man with progressive weakness and wasting of both lower limbs, stocking and glove hypothesia, pes cavus. He developed diabetes at the age of 65. He had 8 sons and daughters with similar condition started in their adulthood in all except one son (12 y old) who developed frequent falling, mild lower limb weakness and stocking hypothesias at the age of 10. five sons has diabetes in their third decade. Nerve conduction velocity study of the proband and his siblings showed mixed demyelinating and axonal peripheral neuropathy which were done earlier at onset before the development of diabetes by many years." "40y" "" "" "" "" "" "" "CMT-2" "Autosomal recessive Hereditary sensorimotor neuropathy" "" "0000296668" "00199" "00404076" "00435" "Familial, autosomal recessive" "20y" "20-y female with progressive weakness and wasting of both upper and lower limbs, stocking and glove hypesthesia, deep sensory loss, autonomic neuropathy and pes cavus. Her nerve conduction velocity study showed axonal neuropathy. She had a brother and two paternal uncles with similar condition." "12y" "" "" "" "" "" "" "CMT-2" "Autosomal recessive Hereditary sensorimotor neuropathy" "" "0000357075" "00198" "00472265" "04653" "Familial, autosomal recessive" "" "0012548: Fatty infiltration in skeletal muscle, 0009054: Scapulopelvic myopathy, 0003458: EMG: myopathic abnormalities, 0100304: Intranuclear inclusion bodies in muscle fibre, 0012084: Abnormal skeletal muscle fibre size, 0011807: Type 1 muscle fibre atrophy, 0031237: Internally nucleated skeletal muscle fibres" "" "" "" "" "" "" "" "" "Distal myopathy" "" "0000357712" "05384" "00472917" "00006" "Unknown" "36y" "onset 18y, Easy fatigability; Difficulty walking; Pes cavus, bilateral; Atrophy of calf muscle, bilateral." "" "" "" "" "" "" "" "" "hereditary neuropathy" "" "0000357858" "05113" "00473063" "00006" "Familial, autosomal recessive" "15y" "onset 11y, Laxity in fingers, wrists & elbows; Distal > proximal muscle weakness & wasting; Abnormal gait, imbalance; Difficulty walking, running & climbing steps; Hand tremor; Muscle cramps; Claw toes, mild; Bilateral pes cavus; Thenar & hypothenar atrophy; Axonal neuropathy; EMG-NCV: distal sensory, motor polyneuropathic process mainly axonal with active axonal degeneration." "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "0000357957" "05384" "00473162" "00006" "Familial, autosomal recessive" "38y" "parents distal lower muscle weakness and atrophy, foot deformity, pes cavus, gait abnormality, distal hereditary motor neuropathy reported in EMG/NCV" "" "" "" "" "" "" "" "" "hereditary neuropathy" "" "0000357985" "05113" "00473190" "00006" "Familial, autosomal recessive" "30y" "onsanguineous parents, multiple affected individuals in three generation,onset 24y ,lower muscle pain, pes cavus, genu recurvatum ,hereditary axonal symmetric sensory motor polyneuropathy or anterior horn cell disease in favor of distal SMA reported in EMG/NCV." "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "0000358206" "00198" "00473411" "00006" "Familial, autosomal recessive" "42y" "two affected siblings, started 15y with distal muscle weakness, foot drop and impaired toe-heel walking and chronic inactive anterior horn cell disease reported in EDX" "" "" "" "" "" "" "" "" "anterior horn cell disease" "" "0000358252" "05113" "00473457" "00006" "Familial, autosomal recessive" "19y" "Sporadic case, age 19y , second cousin parents, started 4y with distal lower muscle weakness, heel walking inability, pes planus, hammer toes, decreased DTR, chronic severe axonal type motor polyneuropathy" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "0000358548" "05113" "00473753" "00006" "Familial, autosomal recessive" "28y" "Muscle weakness, upper/lower limbs; Thenar and hypothenar atrophy; Pes cavus; Gait abnormality; Muscle wasting; Cataract, bilateral; EMG-NCV: severe axonal sensorimotor polyneuropathy" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "0000358715" "05123" "00473920" "00006" "Familial, autosomal recessive" "18y" "Muscle wasting, lower & upper limbs since 1.5y ago; Pes cavus; Mild muscle limbs atrophy; EMG-NCV: chronic neurogenic changes, probably ant. horn cell disease." "" "" "" "" "" "" "" "" "spinal myscular atrophy" "" "0000358781" "07236" "00473986" "00006" "Unknown" "33y" "onset 29.5y with fasciculations in distal of upper limb muscle; Upper limb muscle atrophy, distal; Dysarthria; Nasal speech; Generalized muscle fasciculations; Hyperreflexia; Spasticity; EMG_NCV: motor neuron disease; MRI of cervical spine revealed hemangioma in body of C3 spine" "" "" "" "" "" "" "" "" "motor neuron disease" "" ## Screenings ## Do not remove or alter this header ## ## Count = 60 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000302331" "00301208" "1" "00006" "00006" "2020-05-10 11:49:06" "" "" "SEQ" "DNA" "" "" "0000302332" "00301209" "1" "00006" "00006" "2020-05-10 11:49:06" "" "" "SEQ" "DNA" "" "" "0000302333" "00301210" "1" "00006" "00006" "2020-05-10 11:49:06" "" "" "SEQ" "DNA" "" "" "0000302334" "00301211" "1" "00006" "00006" "2020-05-10 11:49:06" "" "" "SEQ" "DNA" "" "" "0000302335" "00301212" "1" "00006" "00006" "2020-05-10 11:49:06" "" "" "SEQ" "DNA" "" "" "0000302336" "00301213" "1" "00006" "00006" "2020-05-10 11:49:06" "" "" "SEQ" "DNA" "" "" "0000302337" "00301214" "1" "00006" "00006" "2020-05-10 11:49:06" "" "" "SEQ" "DNA" "" "" "0000302338" "00301215" "1" "00006" "00006" "2020-05-10 11:49:06" "" "" "SEQ" "DNA" "" "" "0000302339" "00301216" "1" "00006" "00006" "2020-05-10 11:49:06" "" "" "SEQ" "DNA" "" "" "0000302340" "00301217" "1" "00006" "00006" "2020-05-10 11:49:06" "" "" "SEQ" "DNA" "" "" "0000302341" "00301218" "1" "00006" "00006" "2020-05-10 11:49:06" "" "" "SEQ" "DNA" "" "" "0000302342" "00301219" "1" "00006" "00006" "2020-05-10 11:49:06" "" "" "SEQ" "DNA" "" "" "0000302343" "00301220" "1" "00006" "00006" "2020-05-10 11:49:06" "" "" "SEQ" "DNA" "" "" "0000302344" "00301221" "1" "00006" "00006" "2020-05-10 11:49:06" "" "" "SEQ" "DNA" "" "" "0000302345" "00301222" "1" "00006" "00006" "2020-05-10 11:49:06" "" "" "SEQ" "DNA" "" "" "0000302346" "00301223" "1" "00006" "00006" "2020-05-10 11:49:06" "" "" "SEQ" "DNA" "" "" "0000302347" "00301224" "1" "00006" "00006" "2020-05-10 11:49:06" "" "" "SEQ" "DNA" "" "" "0000302348" "00301225" "1" "00006" "00006" "2020-05-10 11:49:06" "" "" "SEQ" "DNA" "" "" "0000302349" "00301226" "1" "00006" "00006" "2020-05-10 11:49:06" "" "" "SEQ" "DNA" "" "" "0000302350" "00301227" "1" "00006" "00006" "2020-05-10 11:49:06" "" "" "SEQ" "DNA" "" "" "0000302351" "00301228" "1" "00006" "00006" "2020-05-10 11:49:06" "" "" "SEQ" "DNA" "" "" "0000302352" "00301229" "1" "00006" "00006" "2020-05-10 11:49:06" "" "" "SEQ" "DNA" "" "" "0000302353" "00301230" "1" "00006" "00006" "2020-05-10 11:49:06" "" "" "SEQ" "DNA" "" "" "0000302354" "00301231" "1" "00006" "00006" "2020-05-10 11:49:06" "" "" "SEQ" "DNA" "" "" "0000302355" "00301232" "1" "00006" "00006" "2020-05-10 11:49:06" "" "" "SEQ" "DNA" "" "" "0000302356" "00301233" "1" "00006" "00006" "2020-05-10 11:49:06" "" "" "SEQ" "DNA" "" "" "0000302357" "00301234" "1" "00006" "00006" "2020-05-10 11:49:06" "" "" "SEQ" "DNA" "" "" "0000302358" "00301235" "1" "00006" "00006" "2020-05-10 11:49:06" "" "" "SEQ" "DNA" "" "" "0000302359" "00301236" "1" "00006" "00006" "2020-05-10 11:49:06" "" "" "SEQ" "DNA" "" "" "0000302360" "00301237" "1" "00006" "00006" "2020-05-10 11:49:06" "" "" "SEQ" "DNA" "" "" "0000302361" "00301238" "1" "00006" "00006" "2020-05-10 11:49:06" "" "" "SEQ" "DNA" "" "" "0000302362" "00301239" "1" "00006" "00006" "2020-05-10 11:49:06" "" "" "SEQ" "DNA" "" "" "0000302363" "00301240" "1" "00006" "00006" "2020-05-10 11:49:06" "" "" "SEQ" "DNA" "" "" "0000302364" "00301241" "1" "00006" "00006" "2020-05-10 11:49:06" "" "" "SEQ" "DNA" "" "" "0000302365" "00301242" "1" "00006" "00006" "2020-05-10 11:49:06" "" "" "SEQ" "DNA" "" "" "0000302366" "00301243" "1" "00006" "00006" "2020-05-10 11:49:06" "" "" "SEQ" "DNA" "" "" "0000302367" "00301244" "1" "00006" "00006" "2020-05-10 11:49:06" "" "" "SEQ" "DNA" "" "" "0000302368" "00301245" "1" "00006" "00006" "2020-05-10 11:49:06" "" "" "SEQ" "DNA" "" "" "0000302369" "00301246" "1" "00006" "00006" "2020-05-10 11:49:06" "" "" "SEQ" "DNA" "" "" "0000302370" "00301247" "1" "00006" "00006" "2020-05-10 11:49:06" "" "" "SEQ" "DNA" "" "" "0000302371" "00301248" "1" "00006" "00006" "2020-05-10 11:49:06" "" "" "SEQ" "DNA" "" "" "0000302372" "00301249" "1" "00006" "00006" "2020-05-10 11:49:06" "" "" "SEQ" "DNA" "" "" "0000302373" "00301250" "1" "00006" "00006" "2020-05-10 11:49:06" "" "" "SEQ" "DNA" "" "" "0000302374" "00301251" "1" "00006" "00006" "2020-05-10 11:49:06" "" "" "SEQ" "DNA" "" "" "0000302375" "00301252" "1" "00006" "00006" "2020-05-10 11:49:06" "" "" "SEQ" "DNA" "" "" "0000335902" "00334673" "1" "00000" "00006" "2021-03-01 16:58:55" "" "" "SEQ-NG" "DNA" "" "WES" "0000335903" "00334674" "1" "00000" "00006" "2021-03-01 16:58:55" "" "" "SEQ-NG" "DNA" "" "WES" "0000335904" "00334675" "1" "00000" "00006" "2021-03-01 16:58:55" "" "" "SEQ-NG" "DNA" "" "WES" "0000405312" "00404075" "1" "00435" "00435" "2022-02-25 22:33:29" "" "" "SEQ-NG" "DNA" "blood" "" "0000405313" "00404076" "1" "00435" "00435" "2022-02-25 22:48:53" "" "" "SEQ-NG" "DNA" "blood" "" "0000473935" "00472265" "1" "04653" "04653" "2026-01-20 16:06:00" "" "" "SEQ-NG-I" "DNA" "" "WGS" "0000474586" "00472917" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474732" "00473063" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474831" "00473162" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474859" "00473190" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475080" "00473411" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475126" "00473457" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475422" "00473753" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475589" "00473920" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475655" "00473986" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 47 "{{screeningid}}" "{{geneid}}" "0000302331" "SORD" "0000302332" "SORD" "0000302333" "SORD" "0000302334" "SORD" "0000302335" "SORD" "0000302336" "SORD" "0000302337" "SORD" "0000302338" "SORD" "0000302339" "SORD" "0000302340" "SORD" "0000302341" "SORD" "0000302342" "SORD" "0000302343" "SORD" "0000302344" "SORD" "0000302345" "SORD" "0000302346" "SORD" "0000302347" "SORD" "0000302348" "SORD" "0000302349" "SORD" "0000302350" "SORD" "0000302351" "SORD" "0000302352" "SORD" "0000302353" "SORD" "0000302354" "SORD" "0000302355" "SORD" "0000302356" "SORD" "0000302357" "SORD" "0000302358" "SORD" "0000302359" "SORD" "0000302360" "SORD" "0000302361" "SORD" "0000302362" "SORD" "0000302363" "SORD" "0000302364" "SORD" "0000302365" "SORD" "0000302366" "SORD" "0000302367" "SORD" "0000302368" "SORD" "0000302369" "SORD" "0000302370" "SORD" "0000302371" "SORD" "0000302372" "SORD" "0000302373" "SORD" "0000302374" "SORD" "0000302375" "SORD" "0000405312" "SORD" "0000405313" "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 = 87 "{{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}}" "0000324071" "0" "50" "15" "45353285" "45353285" "subst" "0" "01804" "SORD_000001" "g.45353285C>T" "" "" "" "SORD(NM_003104.5):c.286C>T (p.(Pro96Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45061087C>T" "" "VUS" "" "0000324072" "0" "50" "15" "45365657" "45365657" "subst" "1.37692E-5" "01804" "SORD_000003" "g.45365657T>C" "" "" "" "SORD(NM_003104.5):c.1003T>C (p.(Phe335Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45073459T>C" "" "VUS" "" "0000665550" "3" "90" "15" "45361221" "45361221" "del" "0" "00006" "SORD_000002" "g.45361221del" "" "{PMID:Cortese 2020:32367058}" "" "" "" "Germline" "" "" "0" "" "" "g.45069023del" "" "pathogenic (recessive)" "" "0000665551" "3" "90" "15" "45361221" "45361221" "del" "0" "00006" "SORD_000002" "g.45361221del" "" "{PMID:Cortese 2020:32367058}" "" "" "" "Germline" "" "" "0" "" "" "g.45069023del" "" "pathogenic (recessive)" "" "0000665552" "21" "90" "15" "45361221" "45361221" "del" "0" "00006" "SORD_000002" "g.45361221del" "" "{PMID:Cortese 2020:32367058}" "" "" "" "Germline" "" "" "0" "" "" "g.45069023del" "" "pathogenic (recessive)" "" "0000665553" "11" "90" "15" "45361221" "45361221" "del" "0" "00006" "SORD_000002" "g.45361221del" "" "{PMID:Cortese 2020:32367058}" "" "" "" "Germline" "" "" "0" "" "" "g.45069023del" "" "pathogenic (recessive)" "" "0000665554" "3" "90" "15" "45361221" "45361221" "del" "0" "00006" "SORD_000002" "g.45361221del" "" "{PMID:Cortese 2020:32367058}" "" "" "" "Germline" "" "" "0" "" "" "g.45069023del" "" "pathogenic (recessive)" "" "0000665555" "3" "90" "15" "45361221" "45361221" "del" "0" "00006" "SORD_000002" "g.45361221del" "" "{PMID:Cortese 2020:32367058}" "" "" "" "Germline" "" "" "0" "" "" "g.45069023del" "" "pathogenic (recessive)" "" "0000665556" "3" "90" "15" "45361221" "45361221" "del" "0" "00006" "SORD_000002" "g.45361221del" "" "{PMID:Cortese 2020:32367058}" "" "" "" "Germline" "" "" "0" "" "" "g.45069023del" "" "pathogenic (recessive)" "" "0000665557" "3" "90" "15" "45361221" "45361221" "del" "0" "00006" "SORD_000002" "g.45361221del" "" "{PMID:Cortese 2020:32367058}" "" "" "" "Germline" "" "" "0" "" "" 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"45364617" "45364617" "subst" "0.000181261" "02326" "SORD_000016" "g.45364617G>A" "" "" "" "SORD(NM_003104.6):c.889G>A (p.V297M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981233" "0" "90" "15" "45361221" "45361221" "del" "0" "01804" "SORD_000002" "g.45361221del" "" "" "" "SORD(NM_003104.6):c.757del (p.(Ala253GlnfsTer27)), SORD(NM_003104.6):c.757delG (p.A253Qfs*27)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001001431" "0" "10" "15" "45357410" "45357410" "subst" "0" "02326" "SORD_000017" "g.45357410T>G" "" "" "" "SORD(NM_003104.6):c.426-59T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001001432" "0" "10" "15" "45357547" "45357547" "subst" "0.00334309" "02326" "SORD_000018" "g.45357547C>T" "" "" "" "SORD(NM_003104.6):c.504C>T (p.G168=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001001433" "0" "30" "15" "45360350" "45360350" "subst" "0.00334235" "02326" "SORD_000019" "g.45360350G>C" "" "" "" "SORD(NM_003104.6):c.545-29G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001434" "0" "10" "15" "45360983" "45360983" "subst" "0" "02326" "SORD_000020" "g.45360983A>G" "" "" "" "SORD(NM_003104.6):c.611-92A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001001435" "0" "30" "15" "45360993" "45360993" "subst" "0" "02326" "SORD_000021" "g.45360993T>C" "" "" "" "SORD(NM_003104.6):c.611-82T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001436" "0" "10" "15" "45361011" "45361011" "subst" "0" "02326" "SORD_000022" "g.45361011C>T" "" "" "" "SORD(NM_003104.6):c.611-64C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001001437" "0" "10" "15" "45361180" "45361180" "subst" "0.201003" "02326" "SORD_000023" "g.45361180A>T" "" "" "" "SORD(NM_003104.6):c.716A>T (p.Q239L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001001438" "0" "30" "15" "45365792" "45365792" "subst" "0" "02326" "SORD_000024" "g.45365792G>A" "" "" "" "SORD(NR_034039.2):n.1312G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026439" "0" "90" "15" "45357501" "45357501" "subst" "0.000471288" "02327" "SORD_000009" "g.45357501C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001062909" "11" "70" "15" "45361221" "45361221" "del" "0" "04653" "SORD_000002" "g.45361221del" "" "Verebi et al. (submitted)" "" "" "" "Germline" "" "" "0" "" "" "g.45069023del" "" "pathogenic" "ACMG" "0001062910" "21" "70" "15" "45335572" "45335572" "subst" "2.97094E-5" "04653" "SORD_000025" "g.45335572C>T" "" "Verebi et al. (submitted)" "" "" "" "Germline" "" "" "0" "" "" "g.45043374C>T" "" "likely pathogenic" "ACMG" "0001068984" "1" "70" "15" "45357501" "45357501" "subst" "0.000471288" "00006" "SORD_000009" "g.45357501C>A" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PP3, PM2, PS3, PP5, PM1" "Germline" "" "" "0" "" "" "g.45065303C>A" "SCV006075370.1" "likely pathogenic" "ACMG" "0001069130" "3" "70" "15" "45357501" "45357501" "subst" "0.000471288" "00006" "SORD_000009" "g.45357501C>A" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PS3, PM2, PP3, PP5" "Germline" "" "" "0" "" "" "g.45065303C>A" "SCV006075370.1" "likely pathogenic" "ACMG" "0001069229" "3" "90" "15" "45361221" "45361221" "del" "0" "00006" "SORD_000002" "g.45361221del" "" "{PMID:Molaei 2025:41315541}" "" "757delG" "" "Germline" "" "" "0" "" "" "g.45069023del" "SCV001755401" "pathogenic" "" "0001069257" "3" "90" "15" "45361221" "45361221" "del" "0" "00006" "SORD_000002" "g.45361221del" "" "{PMID:Molaei 2025:41315541}" "" "757delG" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.45069023del" "SCV001755401" "pathogenic" "ACMG" "0001069477" "3" "90" "15" "45361221" "45361221" "del" "0" "00006" "SORD_000002" "g.45361221del" "" "{PMID:Molaei 2025:41315541}" "" "757delG" "ACMG PVS1, PM3, PP5" "Germline" "" "" "0" "" "" "g.45069023del" "SCV001755401" "pathogenic" "ACMG" "0001069522" "3" "90" "15" "45361221" "45361221" "del" "0" "00006" "SORD_000002" "g.45361221del" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PVS1_VS, PM3_str, PM2_mod" "Germline" "" "" "0" "" "" "g.45069023del" "SCV001755401.2" "pathogenic" "ACMG" "0001069817" "3" "70" "15" "45361221" "45361221" "del" "0" "00006" "SORD_000002" "g.45361221del" "" "{PMID:Molaei 2025:41315541}" "" "757delG" "ACMG PS3, PP3, PM3" "Germline" "" "" "0" "" "" "g.45069023del" "SCV001755401" "likely pathogenic" "ACMG" "0001069982" "3" "70" "15" "45361221" "45361221" "del" "0" "00006" "SORD_000002" "g.45361221del" "" "{PMID:Molaei 2025:41315541}" "" "757delG" "ACMG PS3, PP3, PM3" "Germline" "" "" "0" "" "" "g.45069023del" "SCV001755401" "likely pathogenic" "ACMG" "0001070047" "0" "70" "15" "45361221" "45361221" "del" "0" "00006" "SORD_000002" "g.45361221del" "" "{PMID:Molaei 2025:41315541}" "" "757delG" "ACMG PS3, PM2, PM3, PP3" "Germline" "" "" "0" "" "" "g.45069023del" "SCV001755401" "likely pathogenic" "ACMG" "0001070068" "0" "50" "15" "45365702" "45365702" "subst" "0" "00006" "SORD_000026" "g.45365702T>G" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.45073504T>G" "SCV006075276" "VUS" "ACMG" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes SORD ## Count = 87 "{{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}}" "0000324071" "00020025" "50" "286" "0" "286" "0" "c.286C>T" "r.(?)" "p.(Pro96Ser)" "" "0000324072" "00020025" "50" "1003" "0" "1003" "0" "c.1003T>C" "r.(?)" "p.(Phe335Leu)" "" "0000665550" "00020025" "90" "757" "0" "757" "0" "c.757del" "r.(?)" "p.(Ala253Glnfs*27)" "" "0000665551" "00020025" "90" "757" "0" "757" "0" "c.757del" "r.(?)" "p.(Ala253Glnfs*27)" "" "0000665552" "00020025" "90" "757" "0" "757" "0" "c.757del" "r.(?)" "p.(Ala253Glnfs*27)" "" "0000665553" "00020025" "90" "757" "0" "757" "0" "c.757del" "r.(?)" "p.(Ala253Glnfs*27)" "" "0000665554" "00020025" "90" "757" "0" "757" "0" "c.757del" "r.(?)" "p.(Ala253Glnfs*27)" "" "0000665555" "00020025" "90" "757" "0" "757" "0" "c.757del" "r.(?)" "p.(Ala253Glnfs*27)" "" "0000665556" "00020025" "90" "757" "0" "757" "0" "c.757del" "r.(?)" "p.(Ala253Glnfs*27)" "" "0000665557" "00020025" "90" "757" "0" "757" "0" "c.757del" "r.(?)" "p.(Ala253Glnfs*27)" "" "0000665558" "00020025" "90" "757" "0" "757" "0" "c.757del" "r.(?)" "p.(Ala253Glnfs*27)" "" "0000665559" "00020025" "90" "757" "0" "757" "0" "c.757del" "r.(?)" "p.(Ala253Glnfs*27)" "" "0000665560" "00020025" "90" "757" "0" "757" "0" "c.757del" "r.(?)" "p.(Ala253Glnfs*27)" "" "0000665561" "00020025" "90" "757" "0" "757" "0" "c.757del" "r.(?)" "p.(Ala253Glnfs*27)" "" "0000665562" "00020025" "90" "757" "0" "757" "0" "c.757del" "r.(?)" "p.(Ala253Glnfs*27)" "" "0000665563" "00020025" "90" "757" "0" "757" "0" "c.757del" "r.(?)" "p.(Ala253Glnfs*27)" "" "0000665564" "00020025" "90" "757" "0" "757" "0" "c.757del" "r.(?)" "p.(Ala253Glnfs*27)" "" "0000665565" "00020025" "90" "757" "0" "757" "0" "c.757del" "r.(?)" "p.(Ala253Glnfs*27)" "" "0000665566" "00020025" "90" "757" "0" "757" "0" "c.757del" "r.(?)" "p.(Ala253Glnfs*27)" "" "0000665567" "00020025" "90" "757" "0" "757" "0" "c.757del" "r.(?)" "p.(Ala253Glnfs*27)" "" "0000665568" "00020025" "90" "757" "0" "757" "0" "c.757del" "r.(?)" "p.(Ala253Glnfs*27)" "" "0000665569" "00020025" "90" "757" "0" "757" "0" "c.757del" "r.(?)" "p.(Ala253Glnfs*27)" "" "0000665570" "00020025" "90" "757" "0" "757" "0" "c.757del" "r.(?)" "p.(Ala253Glnfs*27)" "" "0000665571" "00020025" "90" "757" "0" "757" "0" "c.757del" "r.(?)" "p.(Ala253Glnfs*27)" "" "0000665572" "00020025" "90" "757" "0" "757" "0" "c.757del" "r.(?)" "p.(Ala253Glnfs*27)" "" "0000665573" "00020025" "90" "757" "0" "757" "0" "c.757del" "r.(?)" "p.(Ala253Glnfs*27)" "" "0000665574" "00020025" "90" "757" "0" "757" "0" "c.757del" "r.(?)" "p.(Ala253Glnfs*27)" "" "0000665575" "00020025" "90" "757" "0" "757" "0" "c.757del" "r.(?)" "p.(Ala253Glnfs*27)" "" "0000665576" "00020025" "90" "757" "0" "757" "0" "c.757del" "r.(?)" "p.(Ala253Glnfs*27)" "" "0000665577" "00020025" "90" "757" "0" "757" "0" "c.757del" "r.(?)" "p.(Ala253Glnfs*27)" "" "0000665578" "00020025" "90" "757" "0" "757" "0" "c.757del" "r.(?)" "p.(Ala253Glnfs*27)" "" "0000665579" "00020025" "90" "757" "0" "757" "0" "c.757del" "r.(?)" "p.(Ala253Glnfs*27)" "" "0000665580" "00020025" "90" "757" "0" "757" "0" "c.757del" "r.(?)" "p.(Ala253Glnfs*27)" "" "0000665581" "00020025" "90" "757" "0" "757" "0" "c.757del" "r.(?)" "p.(Ala253Glnfs*27)" "" "0000665582" "00020025" "90" "757" "0" "757" "0" "c.757del" "r.(?)" "p.(Ala253Glnfs*27)" "" "0000665583" "00020025" "90" "757" "0" "757" "0" "c.757del" "r.(?)" "p.(Ala253Glnfs*27)" "" "0000665584" "00020025" "90" "757" "0" "757" "0" "c.757del" "r.(?)" "p.(Ala253Glnfs*27)" "" "0000665585" "00020025" "90" "757" "0" "757" "0" "c.757del" "r.(?)" "p.(Ala253Glnfs*27)" "" "0000665586" "00020025" "90" "757" "0" "757" "0" "c.757del" "r.(?)" "p.(Ala253Glnfs*27)" "" "0000665587" "00020025" "90" "757" "0" "757" "0" "c.757del" "r.(?)" "p.(Ala253Glnfs*27)" "" "0000665588" "00020025" "90" "757" "0" "757" "0" "c.757del" "r.(?)" "p.(Ala253Glnfs*27)" "" "0000665589" "00020025" "90" "757" "0" "757" "0" "c.757del" "r.(?)" "p.(Ala253Glnfs*27)" "" "0000665590" "00020025" "90" "757" "0" "757" "0" "c.757del" "r.(?)" "p.(Ala253Glnfs*27)" "" "0000665591" "00020025" "90" "757" "0" "757" "0" "c.757del" "r.(?)" "p.(Ala253Glnfs*27)" "" "0000665592" "00020025" "90" "757" "0" "757" "0" "c.757del" "r.(?)" "p.(Ala253Glnfs*27)" "" "0000665593" "00020025" "90" "757" "0" "757" "0" "c.757del" "r.(?)" "p.(Ala253Glnfs*27)" "" "0000665594" "00020025" "90" "757" "0" "757" "0" "c.757del" "r.(?)" "p.(Ala253Glnfs*27)" "" "0000665595" "00020025" "90" "298" "0" "298" "0" "c.298C>T" "r.(?)" "p.(Arg100*)" "" "0000665596" "00020025" "90" "329" "0" "329" "0" "c.329G>C" "r.(?)" "p.(Arg110Pro)" "" "0000665597" "00020025" "90" "458" "0" "458" "0" "c.458C>A" "r.(?)" "p.(Ala153Asp)" "" "0000665598" "00020025" "90" "458" "0" "458" "0" "c.458C>A" "r.(?)" "p.(Ala153Asp)" "" "0000665599" "00020025" "90" "964" "0" "964" "0" "c.964G>A" "r.(?)" "p.(Val322Ile)" "" "0000665600" "00020025" "90" "316" "0" "425" "165" "c.316_425+165del" "r.spl?" "p.?" "" "0000665601" "00020025" "90" "28" "0" "28" "0" "c.28C>T" "r.(?)" "p.(Leu10Phe)" "" "0000665602" "00020025" "90" "895" "0" "895" "0" "c.895C>T" "r.(?)" "p.(Arg299*)" "" "0000725126" "00020025" "90" "757" "0" "757" "0" "c.757del" "r.(?)" "p.(Ala253GlnfsTer27)" "" "0000734814" "00020025" "30" "1672" "0" "1672" "0" "c.*598C>T" "r.(=)" "p.(=)" "" "0000734815" "00020025" "30" "1673" "0" "1673" "0" "c.*599A>G" "r.(=)" "p.(=)" "" "0000734816" "00020025" "30" "1685" "0" "1685" "0" "c.*611G>T" "r.(=)" "p.(=)" "" "0000841397" "00020025" "90" "757" "0" "757" "0" "c.757del" "r.(?)" "p.(Ala253Glnfs*27)" "7" "0000841398" "00020025" "90" "757" "0" "757" "0" "c.757del" "r.(?)" "p.(Ala253Glnfs*27)" "7" "0000863855" "00020025" "10" "806" "0" "806" "0" "c.806A>C" "r.(?)" "p.(Asn269Thr)" "" "0000892069" "00020025" "10" "964" "0" "964" "0" "c.964G>T" "r.(?)" "p.(Val322Phe)" "" "0000914293" "00020025" "90" "757" "0" "757" "0" "c.757del" "r.(?)" "p.(Ala253GlnfsTer27)" "" "0000967784" "00020025" "30" "889" "0" "889" "0" "c.889G>A" "r.(?)" "p.(Val297Met)" "" "0000981233" "00020025" "90" "757" "0" "757" "0" "c.757del" "r.(?)" "p.(Ala253GlnfsTer27)" "" "0001001431" "00020025" "10" "426" "-59" "426" "-59" "c.426-59T>G" "r.(=)" "p.(=)" "" "0001001432" "00020025" "10" "504" "0" "504" "0" "c.504C>T" "r.(?)" "p.(=)" "" "0001001433" "00020025" "30" "545" "-29" "545" "-29" "c.545-29G>C" "r.(=)" "p.(=)" "" "0001001434" "00020025" "10" "611" "-92" "611" "-92" "c.611-92A>G" "r.(=)" "p.(=)" "" "0001001435" "00020025" "30" "611" "-82" "611" "-82" "c.611-82T>C" "r.(=)" "p.(=)" "" "0001001436" "00020025" "10" "611" "-64" "611" "-64" "c.611-64C>T" "r.(=)" "p.(=)" "" "0001001437" "00020025" "10" "716" "0" "716" "0" "c.716A>T" "r.(?)" "p.(Gln239Leu)" "" "0001001438" "00020025" "30" "1138" "0" "1138" "0" "c.*64G>A" "r.(=)" "p.(=)" "" "0001026439" "00020025" "90" "458" "0" "458" "0" "c.458C>A" "r.(?)" "p.(Ala153Asp)" "" "0001062909" "00020025" "70" "757" "0" "757" "0" "c.757del" "r.(?)" "p.(Ala253GlnfsTer27)" "7" "0001062910" "00020025" "70" "218" "0" "218" "0" "c.218C>T" "r.(?)" "p.(Ser73Leu)" "3" "0001068984" "00020025" "70" "458" "0" "458" "0" "c.458C>A" "r.(?)" "p.(Ala153Asp)" "" "0001069130" "00020025" "70" "458" "0" "458" "0" "c.458C>A" "r.(?)" "p.(Ala153Asp)" "" "0001069229" "00020025" "90" "757" "0" "757" "0" "c.757del" "r.(?)" "p.(Ala253GlnfsTer27)" "" "0001069257" "00020025" "90" "757" "0" "757" "0" "c.757del" "r.(?)" "p.(Ala253GlnfsTer27)" "" "0001069477" "00020025" "90" "757" "0" "757" "0" "c.757del" "r.(?)" "p.(Ala253GlnfsTer27)" "" "0001069522" "00020025" "90" "757" "0" "757" "0" "c.757del" "r.(?)" "p.(Ala253GlnfsTer27)" "" "0001069817" "00020025" "70" "757" "0" "757" "0" "c.757del" "r.(?)" "p.(Ala253GlnfsTer27)" "" "0001069982" "00020025" "70" "757" "0" "757" "0" "c.757del" "r.(?)" "p.(Ala253GlnfsTer27)" "" "0001070047" "00020025" "70" "757" "0" "757" "0" "c.757del" "r.(?)" "p.(Ala253GlnfsTer27)" "" "0001070068" "00020025" "50" "1048" "0" "1048" "0" "c.1048T>G" "r.(?)" "p.(Cys350Gly)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 70 "{{screeningid}}" "{{variantid}}" "0000302331" "0000665550" "0000302332" "0000665551" "0000302333" "0000665552" "0000302333" "0000665595" "0000302334" "0000665553" "0000302334" "0000665596" "0000302335" "0000665554" "0000302336" "0000665555" "0000302337" "0000665556" "0000302338" "0000665557" "0000302339" "0000665558" "0000302340" "0000665559" "0000302341" "0000665560" "0000302342" "0000665561" "0000302343" "0000665562" "0000302344" "0000665563" "0000302345" "0000665564" "0000302345" "0000665597" "0000302346" "0000665565" "0000302346" "0000665598" "0000302347" "0000665566" "0000302348" "0000665567" "0000302349" "0000665568" "0000302350" "0000665569" "0000302351" "0000665570" "0000302352" "0000665571" "0000302353" "0000665572" "0000302354" "0000665573" "0000302355" "0000665574" "0000302356" "0000665575" "0000302357" "0000665576" "0000302358" "0000665577" "0000302359" "0000665578" "0000302360" "0000665579" "0000302361" "0000665580" "0000302362" "0000665581" "0000302363" "0000665582" "0000302364" "0000665583" "0000302365" "0000665584" "0000302366" "0000665585" "0000302366" "0000665599" "0000302367" "0000665586" "0000302367" "0000665600" "0000302368" "0000665587" "0000302369" "0000665588" "0000302369" "0000665601" "0000302370" "0000665589" "0000302370" "0000665602" "0000302371" "0000665590" "0000302372" "0000665591" "0000302373" "0000665592" "0000302374" "0000665593" "0000302375" "0000665594" "0000335902" "0000734814" "0000335903" "0000734815" "0000335904" "0000734816" "0000405312" "0000841397" "0000405313" "0000841398" "0000473935" "0001062909" "0000473935" "0001062910" "0000474586" "0001068984" "0000474586" "0001070068" "0000474732" "0001069130" "0000474831" "0001069229" "0000474859" "0001069257" "0000475080" "0001069477" "0000475126" "0001069522" "0000475422" "0001069817" "0000475589" "0001069982" "0000475655" "0001070047"