### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KIF1C) # 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}}" "KIF1C" "kinesin family member 1C" "17" "p13.2" "unknown" "NC_000017.10" "UD_132438481952" "" "http://www.LOVD.nl/KIF1C" "" "1" "6317" "10749" "603060" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/KIF1C_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-09-27 09:13:35" "00006" "2025-11-13 13:04:16" ## 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}}" "00010575" "KIF1C" "kinesin family member 1C" "001" "NM_006612.5" "" "NP_006603.2" "" "" "" "-357" "7560" "3312" "4901243" "4931694" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01972" "neuropathy (CCT5)" "neuropathy, sensory, with spastic paraplegia, hereditary, autosomal recessive" "AR" "256840" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03020" "SPAX2;SPG58" "ataxia, spastic, type 2, autosomal dominant (SPAX-2, spastic paraplegia (SPG-58))" "AR" "611302" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04255" "ALS" "sclerosis, lateral, amyotrophic (ALS)" "" "" "" "" "" "00015" "2015-05-08 11:45:27" "00006" "2015-12-08 23:53:05" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "KIF1C" "03020" ## Individuals ## Do not remove or alter this header ## ## Count = 13 "{{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}}" "00095132" "" "" "" "4" "" "00006" "{PMID:Novarino 2014:24482476}, {DOI:Novarino 2014:10.1126/science.1247363}" "4-generation family, 4 affecteds (2F, 2M), unaffected heterozygous carrier parents, patient 789IV-1" "F" "yes" "" "" "0" "added by student Anneliz de Leeuw" "" "" "" "00095133" "" "" "00095132" "1" "" "00006" "{PMID:Novarino 2014:24482476}, {DOI:Novarino 2014:10.1126/science.1247363}" "brother of 789IV-1" "M" "yes" "" "" "0" "added by student Anneliz de Leeuw" "" "" "" "00095134" "" "" "" "2" "" "00006" "{PMID:Novarino 2014:24482476}, {DOI:Novarino 2014:10.1126/science.1247363}" "4-generation family, 2 affecteds sisters, unaffected heterozygous carrier parents, patient 803IV-1" "F" "yes" "" "" "0" "added by student Rachel van Loo" "" "" "" "00095135" "" "" "00095134" "1" "" "00006" "{PMID: Gaia Novarino 2014: 24482476}" "sister of 803IV-1" "F" "yes" "" "" "0" "added by student Rachel van Loo" "" "" "" "00095147" "" "" "" "4" "" "00006" "{PMID:Novarino 2014:24482476}, {DOI:Novarino 2014:10.1126/science.1247363}" "5-generation family, 4 affecteds (F, 3M), unaffected heterozygous carrier parents" "F;M" "yes" "" "" "0" "" "" "" "" "00144672" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00164422" "" "" "" "1" "" "01807" "" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00291790" "" "" "" "171" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291791" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291792" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304591" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00411970" "" "" "" "11" "" "00006" "{PMID:Wu 2012:22801503}" "3-generation family, 11 affected" "" "" "" "" "0" "" "" "Jew-Sephardic" "Fam2" "00469036" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 13 "{{individualid}}" "{{diseaseid}}" "00095132" "01972" "00095133" "01972" "00095134" "03020" "00095135" "03020" "00095147" "00198" "00144672" "00198" "00164422" "00198" "00291790" "00198" "00291791" "00198" "00291792" "00198" "00304591" "00198" "00411970" "04255" "00469036" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01972, 03020, 04255 ## Count = 9 "{{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}}" "0000073527" "01972" "00095132" "00006" "Familial, autosomal recessive" "" "Spasticity (HP:0001257), Dysarthria (HP:0001260), Chorea (HP:0002072), Myoclonus (HP:0001336), Ataxia (HP:0001251), Increased deep tendon reflexes (HP:0001347), Unknown Hoffmann\'s sign (?HP:0003487), Plantar reflex (HP:0002487), Motor deficit (HP:0002333), No amyotrophy (-HP:0003202), No fasciculations (-HP:0002380), Normal vibration sense at ankles (-HP:0006938), No objective sensory loss (-HP:0010835), No skeletal deformities (-HP:0000924), No sphincter disturbances (-HP:0002839), White matter abnormalities (HP:0002500), No spinal abnormalities (-HP:0002143), Delayed intellectual development (HP:0001263), Hypodontia (HP:0000668), Ptosis (HP:0000508)" "04y" "" "" "" "" "" "" "" "" "" "" "0000073528" "01972" "00095133" "00006" "Familial, autosomal recessive" "" "Spasticity (HP:0001257), Dysarthria (HP:0001260), Chorea (HP:0002072), Myoclonus (HP:0001336), Ataxia (HP:0001251), Increased deep tendon reflexes (HP:0001347), Unknown Hoffmann\'s sign (?HP:0003487), Plantar reflex (HP:0002487), Motor deficit (HP:0002333), No amyotrophy (-HP:0003202), No fasciculations (-HP:0002380), Normal vibration sense at ankles (-HP:0006938), No objective sensory loss (-HP:0010835), No skeletal deformities (-HP:0000924), No sphincter disturbances (-HP:0002839), White matter abnormalities (HP:0002500), Unknown spinal abnormalities (?HP:0002143), Delayed intellectual development (HP:0001263), Hypodontia (HP:0000668)" "03y" "" "" "" "" "" "" "" "" "" "" "0000073529" "03020" "00095134" "00006" "Familial, autosomal recessive" "" "Short stature (HP:0004322), Decreased head circumference (HP:0040195), Intention tremor (HP:0002080), Lower limb hyperreflexia (HP:0002395), Clonus (HP:0002169), Poor fine motor coordination (HP:0007010), Spasticity (HP:0001257), Toe walking (HP:0040083), Dysarthria (HP:0001260), No amyotrophy (-HP:0003202), No fasciculations (-HP:0002380), No abnormality of skeletal morphology (-HP:0011842), No sphincter disturbances (-HP:0002839), No decreased Vibration sense at ankles (-HP:0006938), No white matter abnormalities (-HP:0002500), No abnormality of the spinal cord (-HP:0002143), No intellectual disability (-HP:0001249), No sensory impairment (-HP:0003474)" "02y06m" "" "" "" "" "" "" "" "" "" "" "0000073530" "03020" "00095135" "00006" "Familial, autosomal recessive" "" "Short stature (HP:0004322), Decreased head circumference (HP:0040195), Lower limb hyperreflexia (HP:0002395), Clonus (HP:0002169), Unsteady gate (HP:0002317), Dysarthria (HP:0001260), Toe walking (HP:0040083), Spasticity (HP:0001257), No amyotrophy (-HP:0003202), No fasciculations (-HP:0002380), No abnormality of skeletal morphology (-HP:0011842), No sphincter disturbances (-HP:0002839), No decreased Vibration sense at ankles (-HP:0006938), No white matter abnormalities (-HP:0002500), No abnormality of the spinal cord (-HP:0002143), No intellectual disability (-HP:0001249), No sensory impairment (-HP:0003474)" "02y06m" "" "" "" "" "" "" "" "" "" "" "0000073544" "00198" "00095147" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000117408" "00198" "00144672" "01807" "Unknown" "" "HP:0001258 (Spastic paraplegia)" "" "" "" "" "" "" "" "" "" "" "" "0000129481" "00198" "00164422" "01807" "Unknown" "" "Spastic ataxia (HP:0002497); Limb ataxia (HP:0002070); Head tremor (HP:0002346)" "" "" "" "" "" "" "" "" "" "" "" "0000303997" "04255" "00411970" "00006" "Familial, autosomal dominant" "" "see paper; ..., limb onset (no bulbar onset)" "" "" "" "" "" "" "" "" "ALS18" "amyotrophic lateral sclerosis" "" "0000354189" "00198" "00469036" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" "" ## Screenings ## Do not remove or alter this header ## ## Count = 13 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000095530" "00095132" "1" "00006" "00006" "2016-09-22 13:17:38" "" "" "arraySNP;SEQ-NG-I;SEQ-NG-R;PCR;RT-PCR;Western" "DNA" "Blood" "" "0000095531" "00095133" "1" "00006" "00006" "2016-09-22 13:56:36" "" "" "arraySNP;SEQ-NG-I;SEQ-NG-R;PCR;RT-PCR;Western" "DNA" "Blood" "" "0000095532" "00095134" "1" "00006" "00006" "2016-09-23 20:10:09" "" "" "SEQ" "DNA" "" "" "0000095533" "00095135" "1" "00006" "00006" "2016-09-23 20:21:19" "" "" "SEQ" "DNA" "" "" "0000095545" "00095147" "1" "00006" "00006" "2017-01-06 15:46:39" "" "" "arrayCNV" "DNA" "" "" "0000145529" "00144672" "0" "01807" "01807" "2017-12-21 13:08:44" "" "" "SEQ" "DNA" "" "" "0000165289" "00164422" "1" "01807" "01807" "2018-05-17 16:06:52" "" "" "SEQ" "DNA" "" "" "0000292958" "00291790" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292959" "00291791" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292960" "00291792" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305720" "00304591" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000413242" "00411970" "1" "00006" "00006" "2022-06-20 15:39:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470704" "00469036" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000095530" "KIF1C" "0000095531" "KIF1C" "0000095532" "KIF1C" "0000095533" "KIF1C" "0000095545" "KIF1C" ## 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}}" "0000154099" "3" "90" "17" "4904143" "4904143" "subst" "0" "00006" "KIF1C_000002" "g.4904143G>A" "" "{PMID:Novarino 2014:24482476}, {DOI:Novarino 2014:10.1126/science.1247363}" "" "" "effect on RNA splicing shown schematically, effect not observed in heterozygous carriers" "Germline" "yes" "" "0" "" "" "g.5000848G>A" "" "pathogenic" "" "0000154100" "3" "90" "17" "4904143" "4904143" "subst" "0" "00006" "KIF1C_000002" "g.4904143G>A" "" "{PMID:Novarino 2014:24482476}, {DOI:Novarino 2014:10.1126/science.1247363}" "" "" "effect on RNA splicing shown schematically, effect not observed in heterozygous carriers" "Germline" "yes" "" "0" "" "" "g.5000848G>A" "" "pathogenic" "" "0000154101" "3" "90" "17" "4925567" "4925567" "subst" "0" "00006" "KIF1C_000001" "g.4925567C>T" "" "{PMID:Novarino 2014:24482476}, {DOI:Novarino 2014:10.1126/science.1247363}" "" "C2191T (R731X)" "" "Germline" "yes" "" "0" "" "" "g.5022272C>T" "" "pathogenic" "" "0000154102" "3" "90" "17" "4925567" "4925567" "subst" "0" "00006" "KIF1C_000001" "g.4925567C>T" "" "{PMID:Novarino 2014:24482476}, {DOI:Novarino 2014:10.1126/science.1247363}" "" "C2191T (R731X)" "" "Germline" "yes" "" "0" "" "" "g.5022272C>T" "" "pathogenic" "" "0000154115" "3" "90" "17" "" "" "" "" "00006" "KIF1C_000003" "g.(4908296_4910209(_(4918133_4923290)del" "" "{PMID:Novarino 2014:24482476}, {DOI:Novarino 2014:10.1126/science.1247363}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000237903" "0" "70" "17" "4903544" "4903544" "subst" "0" "01807" "KIF1C_000004" "g.4903544G>T" "" "" "" "Met1?" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.5000249G>T" "" "likely pathogenic" "" "0000237904" "0" "70" "17" "4910381" "4910384" "del" "0" "01807" "KIF1C_000005" "g.4910381_4910384del" "" "" "" "1335+2_1335+5delTGGG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.5007086_5007089del" "" "likely pathogenic" "" "0000256487" "0" "50" "17" "4906919" "4906919" "subst" "0" "01943" "KIF1C_000009" "g.4906919A>G" "" "" "" "KIF1C(NM_006612.5):c.733A>G (p.S245G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5003624A>G" "" "VUS" "" "0000290296" "0" "50" "17" "4908241" "4908241" "subst" "0.00341528" "01943" "KIF1C_000010" "g.4908241G>A" "" "" "" "KIF1C(NM_006612.5):c.1111G>A (p.A371T), KIF1C(NM_006612.6):c.1111G>A (p.A371T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5004946G>A" "" "VUS" "" "0000290297" "0" "10" "17" "4910202" "4910202" "subst" "0.00251694" "01943" "KIF1C_000011" "g.4910202C>T" "" "" "" "KIF1C(NM_006612.5):c.1166-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5006907C>T" "" "benign" "" "0000290298" "0" "30" "17" "4910319" "4910319" "subst" "0.000810541" "01943" "KIF1C_000012" "g.4910319G>A" "" "" "" "KIF1C(NM_006612.5):c.1275G>A (p.P425=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5007024G>A" "" "likely benign" "" "0000290299" "0" "30" "17" "4910336" "4910336" "subst" "0.000125596" "01943" "KIF1C_000013" "g.4910336C>T" "" "" "" "KIF1C(NM_006612.5):c.1292C>T (p.T431M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5007041C>T" "" "likely benign" "" "0000290300" "0" "30" "17" "4925475" "4925475" "subst" "0.00285367" "01943" "KIF1C_000014" "g.4925475C>T" "" "" "" "KIF1C(NM_006612.5):c.2099C>T (p.P700L), KIF1C(NM_006612.6):c.2099C>T (p.P700L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5022180C>T" "" "likely benign" "" "0000290301" "0" "50" "17" "4925675" "4925675" "subst" "0.00143763" "01943" "KIF1C_000015" "g.4925675G>A" "" "" "" "KIF1C(NM_006612.5):c.2299G>A (p.G767R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5022380G>A" "" "VUS" "" "0000290302" "0" "30" "17" "4925701" "4925701" "subst" "0.000964258" "01943" "KIF1C_000016" "g.4925701C>T" "" "" "" "KIF1C(NM_006612.5):c.2325C>T (p.A775=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5022406C>T" "" "likely benign" "" "0000290303" "0" "30" "17" "4925954" "4925954" "subst" "0.000490452" "01943" "KIF1C_000017" "g.4925954G>A" "" "" "" "KIF1C(NM_006612.5):c.2578G>A (p.A860T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5022659G>A" "" "likely benign" "" "0000290304" "0" "30" "17" "4925995" "4925995" "subst" "0" "01943" "KIF1C_000018" "g.4925995C>T" "" "" "" "KIF1C(NM_006612.5):c.2619C>T (p.P873=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5022700C>T" "" "likely benign" "" "0000290305" "0" "50" "17" "4927045" "4927045" "subst" "0" "01943" "KIF1C_000019" "g.4927045C>T" "" "" "" "KIF1C(NM_006612.5):c.2911C>T (p.P971S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5023750C>T" "" "VUS" "" "0000290306" "0" "30" "17" "4927205" "4927205" "subst" "0.00184811" "01943" "KIF1C_000020" "g.4927205G>A" "" "" "" "KIF1C(NM_006612.5):c.3071G>A (p.R1024Q), KIF1C(NM_006612.6):c.3071G>A (p.R1024Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5023910G>A" "" "likely benign" "" "0000290307" "0" "30" "17" "4927247" "4927247" "subst" "0" "01943" "KIF1C_000021" "g.4927247G>A" "" "" "" "KIF1C(NM_006612.5):c.3113G>A (p.G1038D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5023952G>A" "" "likely benign" "" "0000290308" "0" "30" "17" "4904701" "4904701" "subst" "3.68002E-5" "01943" "KIF1C_000006" "g.4904701G>A" "" "" "" "KIF1C(NM_006612.5):c.363+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5001406G>A" "" "likely benign" "" "0000290309" "0" "50" "17" "4905817" "4905817" "subst" "1.21904E-5" "01943" "KIF1C_000007" "g.4905817G>A" "" "" "" "KIF1C(NM_006612.5):c.488G>A (p.R163Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5002522G>A" "" "VUS" "" "0000290310" "0" "50" "17" "4906918" "4906918" "subst" "0.000457236" "01943" "KIF1C_000008" "g.4906918C>G" "" "" "" "KIF1C(NM_006612.5):c.732C>G (p.I244M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5003623C>G" "" "VUS" "" "0000342258" "0" "50" "17" "4906063" "4906063" "subst" "0" "02327" "KIF1C_000022" "g.4906063C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5002768C>T" "" "VUS" "" "0000348615" "0" "10" "17" "4926882" "4926882" "subst" "0.71772" "02327" "KIF1C_000024" "g.4926882A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5023587A>G" "" "benign" "" "0000351250" "0" "90" "17" "4918036" "4918036" "subst" "0" "02327" "KIF1C_000023" "g.4918036A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5014741A>G" "" "pathogenic" "" "0000368947" "0" "70" "17" "4908179" "4908182" "del" "0" "01807" "KIF1C_000026" "g.4908179_4908182del" "" "" "" "1049_1052delGCAA" "" "Unknown" "" "" "0" "" "" "g.5004884_5004887del" "" "likely pathogenic" "" "0000368948" "0" "70" "17" "4907370" "4907370" "subst" "0" "01807" "KIF1C_000025" "g.4907370T>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.5004075T>G" "" "likely pathogenic" "" "0000562285" "0" "90" "17" "4901453" "4901453" "subst" "0" "01943" "INCA1_000001" "g.4901453T>G" "" "" "" "KIF1C(NM_006612.5):c.-149+2T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4998158T>G" "" "pathogenic" "" "0000562286" "0" "30" "17" "4903559" "4903559" "subst" "0.000327897" "01943" "INCA1_000002" "g.4903559G>A" "" "" "" "KIF1C(NM_006612.5):c.18G>A (p.V6=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5000264G>A" "" "likely benign" "" "0000562287" "0" "30" "17" "4904509" "4904509" "subst" "0.00063974" "01943" "INCA1_000003" "g.4904509T>C" "" "" "" "KIF1C(NM_006612.5):c.184-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5001214T>C" "" "likely benign" "" "0000562288" "0" "50" "17" "4904556" "4904556" "subst" "8.12334E-6" "01943" "INCA1_000004" "g.4904556C>T" "" "" "" "KIF1C(NM_006612.5):c.223C>T (p.R75W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5001261C>T" "" "VUS" "" "0000562289" "0" "50" "17" "4907294" "4907294" "subst" "0.00110043" "01943" "KIF1C_000027" "g.4907294A>C" "" "" "" "KIF1C(NM_006612.5):c.866A>C (p.Q289P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5003999A>C" "" "VUS" "" "0000562290" "0" "50" "17" "4908266" "4908266" "subst" "0.00043455" "01943" "KIF1C_000028" "g.4908266C>G" "" "" "" "KIF1C(NM_006612.5):c.1136C>G (p.A379G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5004971C>G" "" "VUS" "" "0000562291" "0" "30" "17" "4910548" "4910548" "subst" "0.000627116" "01943" "KIF1C_000029" "g.4910548A>T" "" "" "" "KIF1C(NM_006612.5):c.1336-10A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5007253A>T" "" "likely benign" "" "0000562292" "0" "50" "17" "4910568" "4910568" "subst" "8.86166E-5" "01943" "KIF1C_000030" "g.4910568A>G" "" "" "" "KIF1C(NM_006612.5):c.1346A>G (p.K449R), KIF1C(NM_006612.6):c.1346A>G (p.K449R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5007273A>G" "" "VUS" "" "0000562293" "0" "30" "17" "4918035" "4918035" "subst" "0.000253459" "01943" "KIF1C_000031" "g.4918035C>T" "" "" "" "KIF1C(NM_006612.5):c.1572-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5014740C>T" "" "likely benign" "" "0000562295" "0" "30" "17" "4923780" "4923780" "subst" "0.00694543" "01943" "KIF1C_000033" "g.4923780T>A" "" "" "" "KIF1C(NM_006612.5):c.1751-7T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5020485T>A" "" "likely benign" "" "0000562296" "0" "50" "17" "4924127" "4924127" "subst" "0" "01943" "KIF1C_000034" "g.4924127G>A" "" "" "" "KIF1C(NM_006612.5):c.1964G>A (p.R655Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5020832G>A" "" "VUS" "" "0000562298" "0" "10" "17" "4926780" "4926780" "subst" "0.000936707" "01943" "KIF1C_000035" "g.4926780T>C" "" "" "" "KIF1C(NM_006612.5):c.2646T>C (p.N882=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5023485T>C" "" "benign" "" "0000562299" "0" "50" "17" "4926868" "4926868" "subst" "0.00149424" "01943" "KIF1C_000036" "g.4926868C>T" "" "" "" "KIF1C(NM_006612.5):c.2734C>T (p.R912W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5023573C>T" "" "VUS" "" "0000562300" "0" "50" "17" "4926883" "4926883" "subst" "6.57451E-5" "01943" "KIF1C_000037" "g.4926883C>A" "" "" "" "KIF1C(NM_006612.5):c.2749C>A (p.P917T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5023588C>A" "" "VUS" "" "0000562301" "0" "50" "17" "4927049" "4927049" "subst" "0" "01943" "KIF1C_000038" "g.4927049C>T" "" "" "" "KIF1C(NM_006612.5):c.2915C>T (p.P972L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5023754C>T" "" "VUS" "" "0000562302" "0" "50" "17" "4927054" "4927054" "subst" "8.38725E-5" "01943" "KIF1C_000039" "g.4927054G>A" "" "" "" "KIF1C(NM_006612.5):c.2920G>A (p.D974N), KIF1C(NM_006612.6):c.2920G>A (p.D974N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5023759G>A" "" "VUS" "" "0000562303" "0" "30" "17" "4927139" "4927139" "subst" "0.00020126" "01943" "KIF1C_000040" "g.4927139C>T" "" "" "" "KIF1C(NM_006612.5):c.3005C>T (p.P1002L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5023844C>T" "" "likely benign" "" "0000562304" "0" "30" "17" "4927205" "4927205" "subst" "0.00184811" "02325" "KIF1C_000020" "g.4927205G>A" "" "" "" "KIF1C(NM_006612.5):c.3071G>A (p.R1024Q), KIF1C(NM_006612.6):c.3071G>A (p.R1024Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5023910G>A" "" "likely benign" "" "0000616690" "0" "30" "17" "4905750" "4905750" "subst" "0" "01943" "INCA1_000005" "g.4905750C>G" "" "" "" "KIF1C(NM_006612.5):c.430-9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5002455C>G" "" "likely benign" "" "0000623717" "0" "30" "17" "4925857" "4925857" "subst" "0.000228447" "01943" "KIF1C_000041" "g.4925857G>A" "" "" "" "KIF1C(NM_006612.5):c.2481G>A (p.G827=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5022562G>A" "" "likely benign" "" "0000623718" "0" "30" "17" "4927262" "4927262" "subst" "0.000174777" "01943" "KIF1C_000042" "g.4927262C>T" "" "" "" "KIF1C(NM_006612.5):c.3128C>T (p.A1043V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5023967C>T" "" "likely benign" "" "0000649647" "1" "10" "17" "4904564" "4904564" "subst" "0.0857945" "03575" "KIF1C_000043" "g.4904564T>C" "171/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "171 heterozygous; {DB:CLININrs17707385}" "Germline" "" "rs17707385" "0" "" "" "g.5001269T>C" "" "benign" "" "0000649648" "1" "50" "17" "4925475" "4925475" "subst" "0.00285367" "03575" "KIF1C_000014" "g.4925475C>T" "2/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs148934699}" "Germline" "" "rs148934699" "0" "" "" "g.5022180C>T" "" "VUS" "" "0000649649" "1" "50" "17" "4926868" "4926868" "subst" "0.00149424" "03575" "KIF1C_000036" "g.4926868C>T" "2/2768 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs202232792}" "Germline" "" "rs202232792" "0" "" "" "g.5023573C>T" "" "VUS" "" "0000658190" "0" "30" "17" "4903273" "4903273" "subst" "0" "01943" "INCA1_000006" "g.4903273G>A" "" "" "" "KIF1C(NM_006612.5):c.-28+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4999978G>A" "" "likely benign" "" "0000658191" "0" "30" "17" "4910259" "4910259" "subst" "0" "01943" "KIF1C_000044" "g.4910259A>G" "" "" "" "KIF1C(NM_006612.5):c.1215A>G (p.S405=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5006964A>G" "" "likely benign" "" "0000658192" "0" "50" "17" "4925846" "4925846" "subst" "0.000664702" "01943" "KIF1C_000045" "g.4925846G>A" "" "" "" "KIF1C(NM_006612.5):c.2470G>A (p.G824R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5022551G>A" "" "VUS" "" "0000669408" "3" "10" "17" "4904564" "4904564" "subst" "0.0857945" "03575" "KIF1C_000043" "g.4904564T>C" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 homozygous; {DB:CLININrs17707385}" "Germline" "" "rs17707385" "0" "" "" "g.5001269T>C" "" "benign" "" "0000680926" "0" "30" "17" "4908241" "4908241" "subst" "0.00341528" "02326" "KIF1C_000010" "g.4908241G>A" "" "" "" "KIF1C(NM_006612.5):c.1111G>A (p.A371T), KIF1C(NM_006612.6):c.1111G>A (p.A371T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692400" "0" "30" "17" "4926994" "4926994" "subst" "0" "01943" "KIF1C_000046" "g.4926994G>A" "" "" "" "KIF1C(NM_006612.5):c.2860G>A (p.G954S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726513" "0" "70" "17" "4923327" "4923328" "del" "0" "02329" "KIF1C_000032" "g.4923327_4923328del" "" "" "" "KIF1C(NM_006612.6):c.1703_1704delCA (p.T568Ifs*18)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000726514" "0" "50" "17" "4925877" "4925877" "subst" "0" "02327" "KIF1C_000047" "g.4925877G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726515" "0" "50" "17" "4927045" "4927045" "subst" "0" "02327" "KIF1C_000019" "g.4927045C>T" "" "" "" "KIF1C(NM_006612.5):c.2911C>T (p.P971S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808100" "0" "30" "17" "4904603" "4904603" "subst" "0.000198983" "01943" "INCA1_000007" "g.4904603C>T" "" "" "" "KIF1C(NM_006612.5):c.270C>T (p.N90=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808101" "0" "50" "17" "4907312" "4907312" "subst" "0.000389819" "01943" "KIF1C_000048" "g.4907312C>T" "" "" "" "KIF1C(NM_006612.5):c.884C>T (p.S295L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808102" "0" "30" "17" "4908298" "4908298" "subst" "0.000203211" "01943" "KIF1C_000049" "g.4908298C>T" "" "" "" "KIF1C(NM_006612.5):c.1165+3C>T, KIF1C(NM_006612.6):c.1165+3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808103" "0" "30" "17" "4908298" "4908298" "subst" "0.000203211" "02325" "KIF1C_000049" "g.4908298C>T" "" "" "" "KIF1C(NM_006612.5):c.1165+3C>T, KIF1C(NM_006612.6):c.1165+3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808104" "0" "30" "17" "4924146" "4924146" "subst" "0" "01943" "KIF1C_000050" "g.4924146C>T" "" "" "" "KIF1C(NM_006612.5):c.1983C>T (p.A661=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808105" "0" "30" "17" "4925475" "4925475" "subst" "0.00285367" "02326" "KIF1C_000014" "g.4925475C>T" "" "" "" "KIF1C(NM_006612.5):c.2099C>T (p.P700L), KIF1C(NM_006612.6):c.2099C>T (p.P700L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808106" "0" "30" "17" "4925813" "4925813" "subst" "0" "01943" "KIF1C_000051" "g.4925813G>A" "" "" "" "KIF1C(NM_006612.5):c.2437G>A (p.G813S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808107" "0" "50" "17" "4927096" "4927096" "subst" "6.012E-6" "02325" "KIF1C_000052" "g.4927096C>T" "" "" "" "KIF1C(NM_006612.6):c.2962C>T (p.R988W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855001" "0" "30" "17" "4904700" "4904700" "subst" "2.86184E-5" "02325" "INCA1_000008" "g.4904700C>T" "" "" "" "KIF1C(NM_006612.6):c.363+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855002" "0" "50" "17" "4910568" "4910568" "subst" "8.86166E-5" "02329" "KIF1C_000030" "g.4910568A>G" "" "" "" "KIF1C(NM_006612.5):c.1346A>G (p.K449R), KIF1C(NM_006612.6):c.1346A>G (p.K449R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855003" "0" "50" "17" "4927054" "4927054" "subst" "8.38725E-5" "02329" "KIF1C_000039" "g.4927054G>A" "" "" "" "KIF1C(NM_006612.5):c.2920G>A (p.D974N), KIF1C(NM_006612.6):c.2920G>A (p.D974N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865365" "0" "30" "17" "4907313" "4907313" "subst" "0.00118977" "01943" "KIF1C_000053" "g.4907313G>A" "" "" "" "KIF1C(NM_006612.5):c.885G>A (p.S295=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865366" "0" "50" "17" "4910793" "4910793" "subst" "2.83198E-5" "01943" "KIF1C_000054" "g.4910793G>A" "" "" "" "KIF1C(NM_006612.5):c.1447G>A (p.V483I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865367" "0" "30" "17" "4927205" "4927205" "subst" "0.00184811" "02326" "KIF1C_000020" "g.4927205G>A" "" "" "" "KIF1C(NM_006612.5):c.3071G>A (p.R1024Q), KIF1C(NM_006612.6):c.3071G>A (p.R1024Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000870700" "1" "50" "17" "4904685" "4904685" "subst" "0" "00006" "KIF1C_000055" "g.4904685A>Y" "" "{PMID:Wu 2012:22801503}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000894043" "0" "30" "17" "4904113" "4904113" "subst" "0.000609107" "02326" "INCA1_000009" "g.4904113C>T" "" "" "" "KIF1C(NM_006612.6):c.153C>T (p.T51=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894044" "0" "10" "17" "4906156" "4906156" "subst" "0" "02326" "INCA1_000010" "g.4906156C>G" "" "" "" "KIF1C(NM_006612.6):c.720+19C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894045" "0" "30" "17" "4923992" "4923992" "subst" "0.000812816" "02326" "KIF1C_000056" "g.4923992C>T" "" "" "" "KIF1C(NM_006612.6):c.1937+19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914897" "0" "50" "17" "4927222" "4927222" "subst" "0.000115065" "02325" "KIF1C_000057" "g.4927222C>T" "" "" "" "KIF1C(NM_006612.6):c.3088C>T (p.R1030C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003421" "0" "50" "17" "4907156" "4907156" "subst" "4.06062E-6" "02325" "KIF1C_000058" "g.4907156A>G" "" "" "" "KIF1C(NM_006612.6):c.809A>G (p.N270S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003423" "0" "30" "17" "4923380" "4923382" "del" "0" "02325" "KIF1C_000059" "g.4923380_4923382del" "" "" "" "KIF1C(NM_006612.6):c.1750+6_1750+8delAGA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003427" "0" "30" "17" "4925481" "4925481" "subst" "0.00473445" "01804" "KIF1C_000060" "g.4925481C>T" "" "" "" "KIF1C(NM_006612.5):c.2105C>T (p.(Thr702Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041987" "0" "30" "17" "4906157" "4906157" "del" "0" "02326" "INCA1_000011" "g.4906157del" "" "" "" "KIF1C(NM_006612.6):c.720+20delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046649" "0" "50" "17" "4927215" "4927215" "subst" "0" "02325" "KIF1C_000061" "g.4927215C>A" "" "" "" "KIF1C(NM_006612.6):c.3081C>A (p.H1027Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055788" "0" "50" "17" "4906118" "4906118" "subst" "6.10496E-5" "01804" "INCA1_000012" "g.4906118C>T" "" "" "" "KIF1C(NM_006612.6):c.701C>T (p.(Thr234Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001058826" "0" "70" "17" "4918106" "4918106" "subst" "8.16104E-5" "00006" "KIF1C_000062" "g.4918106G>T" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.5014811G>T" "" "likely 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 KIF1C ## 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}}" "0000154099" "00010575" "90" "183" "0" "183" "0" "c.183G>A" "r.[183_184ins?, 107_183del]" "p.(Ser61=)" "4" "0000154100" "00010575" "90" "183" "0" "183" "0" "c.183G>A" "r.[183_184ins?, 107_183del]" "p.(Ser61=)" "4" "0000154101" "00010575" "90" "2191" "0" "2191" "0" "c.2191C>T" "r.(?)" "p.(Arg731*)" "22" "0000154102" "00010575" "90" "2191" "0" "2191" "0" "c.2191C>T" "r.(?)" "p.(Arg731*)" "22" "0000154115" "00010575" "90" "1166" "-1" "1666" "1" "c.(1165+1_1166-1)_(1666+1_1667-1)del" "r.?" "p.?" "13i_18i" "0000237903" "00010575" "70" "3" "0" "3" "0" "c.3G>T" "r.(?)" "p.0?" "3" "0000237904" "00010575" "70" "1335" "2" "1335" "5" "c.1335+2_1335+5del" "r.spl" "p.?" "14i" "0000256487" "00010575" "50" "733" "0" "733" "0" "c.733A>G" "r.(?)" "p.(Ser245Gly)" "" "0000290296" "00010575" "50" "1111" "0" "1111" "0" "c.1111G>A" "r.(?)" "p.(Ala371Thr)" "" "0000290297" "00010575" "10" "1166" "-8" "1166" "-8" "c.1166-8C>T" "r.(=)" "p.(=)" "" "0000290298" "00010575" "30" "1275" "0" "1275" "0" "c.1275G>A" "r.(?)" "p.(Pro425=)" "" "0000290299" "00010575" "30" "1292" "0" "1292" "0" "c.1292C>T" "r.(?)" "p.(Thr431Met)" "" "0000290300" "00010575" "30" "2099" "0" "2099" "0" "c.2099C>T" "r.(?)" "p.(Pro700Leu)" "" "0000290301" "00010575" "50" "2299" "0" "2299" "0" "c.2299G>A" "r.(?)" "p.(Gly767Arg)" "" "0000290302" "00010575" "30" "2325" "0" "2325" "0" "c.2325C>T" "r.(?)" "p.(Ala775=)" "" "0000290303" "00010575" "30" "2578" "0" "2578" "0" "c.2578G>A" "r.(?)" "p.(Ala860Thr)" "" "0000290304" "00010575" "30" "2619" "0" "2619" "0" "c.2619C>T" "r.(?)" "p.(Pro873=)" "" "0000290305" "00010575" "50" "2911" "0" "2911" "0" "c.2911C>T" "r.(?)" "p.(Pro971Ser)" "" "0000290306" "00010575" "30" "3071" "0" "3071" "0" "c.3071G>A" "r.(?)" "p.(Arg1024Gln)" "" "0000290307" "00010575" "30" "3113" "0" "3113" "0" "c.3113G>A" "r.(?)" "p.(Gly1038Asp)" "" "0000290308" "00010575" "30" "363" "5" "363" "5" "c.363+5G>A" "r.spl?" "p.?" "" "0000290309" "00010575" "50" "488" "0" "488" "0" "c.488G>A" "r.(?)" "p.(Arg163Gln)" "" "0000290310" "00010575" "50" "732" "0" "732" "0" "c.732C>G" "r.(?)" "p.(Ile244Met)" "" "0000342258" "00010575" "50" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Arg216Cys)" "" "0000348615" "00010575" "10" "2748" "0" "2748" "0" "c.2748A>G" "r.(?)" "p.(Pro916=)" "" "0000351250" "00010575" "90" "1572" "-2" "1572" "-2" "c.1572-2A>G" "r.spl?" "p.?" "" "0000368947" "00010575" "70" "1049" "0" "1052" "0" "c.1049_1052del" "r.(?)" "p.(Cys350Leufs*12)" "" "0000368948" "00010575" "70" "940" "2" "940" "2" "c.940+2T>G" "r.spl" "p.?" "" "0000562285" "00010575" "90" "-149" "2" "-149" "2" "c.-149+2T>G" "r.spl?" "p.?" "" "0000562286" "00010575" "30" "18" "0" "18" "0" "c.18G>A" "r.(?)" "p.(Val6=)" "" "0000562287" "00010575" "30" "184" "-8" "184" "-8" "c.184-8T>C" "r.(=)" "p.(=)" "" "0000562288" "00010575" "50" "223" "0" "223" "0" "c.223C>T" "r.(?)" "p.(Arg75Trp)" "" "0000562289" "00010575" "50" "866" "0" "866" "0" "c.866A>C" "r.(?)" "p.(Gln289Pro)" "" "0000562290" "00010575" "50" "1136" "0" "1136" "0" "c.1136C>G" "r.(?)" "p.(Ala379Gly)" "" "0000562291" "00010575" "30" "1336" "-10" "1336" "-10" "c.1336-10A>T" "r.(=)" "p.(=)" "" "0000562292" "00010575" "50" "1346" "0" "1346" "0" "c.1346A>G" "r.(?)" "p.(Lys449Arg)" "" "0000562293" "00010575" "30" "1572" "-3" "1572" "-3" "c.1572-3C>T" "r.spl?" "p.?" "" "0000562295" "00010575" "30" "1751" "-7" "1751" "-7" "c.1751-7T>A" "r.(=)" "p.(=)" "" "0000562296" "00010575" "50" "1964" "0" "1964" "0" "c.1964G>A" "r.(?)" "p.(Arg655Gln)" "" "0000562298" "00010575" "10" "2646" "0" "2646" "0" "c.2646T>C" "r.(?)" "p.(Asn882=)" "" "0000562299" "00010575" "50" "2734" "0" "2734" "0" "c.2734C>T" "r.(?)" "p.(Arg912Trp)" "" "0000562300" "00010575" "50" "2749" "0" "2749" "0" "c.2749C>A" "r.(?)" "p.(Pro917Thr)" "" "0000562301" "00010575" "50" "2915" "0" "2915" "0" "c.2915C>T" "r.(?)" "p.(Pro972Leu)" "" "0000562302" "00010575" "50" "2920" "0" "2920" "0" "c.2920G>A" "r.(?)" "p.(Asp974Asn)" "" "0000562303" "00010575" "30" "3005" "0" "3005" "0" "c.3005C>T" "r.(?)" "p.(Pro1002Leu)" "" "0000562304" "00010575" "30" "3071" "0" "3071" "0" "c.3071G>A" "r.(?)" "p.(Arg1024Gln)" "" "0000616690" "00010575" "30" "430" "-9" "430" "-9" "c.430-9C>G" "r.(=)" "p.(=)" "" "0000623717" "00010575" "30" "2481" "0" "2481" "0" "c.2481G>A" "r.(?)" "p.(Gly827=)" "" "0000623718" "00010575" "30" "3128" "0" "3128" "0" "c.3128C>T" "r.(?)" "p.(Ala1043Val)" "" "0000649647" "00010575" "10" "231" "0" "231" "0" "c.231T>C" "r.(=)" "p.(=)" "" "0000649648" "00010575" "50" "2099" "0" "2099" "0" "c.2099C>T" "r.(?)" "p.(Pro700Leu)" "" "0000649649" "00010575" "50" "2734" "0" "2734" "0" "c.2734C>T" "r.(?)" "p.(Arg912Trp)" "" "0000658190" "00010575" "30" "-28" "8" "-28" "8" "c.-28+8G>A" "r.(=)" "p.(=)" "" "0000658191" "00010575" "30" "1215" "0" "1215" "0" "c.1215A>G" "r.(?)" "p.(Ser405=)" "" "0000658192" "00010575" "50" "2470" "0" "2470" "0" "c.2470G>A" "r.(?)" "p.(Gly824Arg)" "" "0000669408" "00010575" "10" "231" "0" "231" "0" "c.231T>C" "r.(=)" "p.(=)" "" "0000680926" "00010575" "30" "1111" "0" "1111" "0" "c.1111G>A" "r.(?)" "p.(Ala371Thr)" "" "0000692400" "00010575" "30" "2860" "0" "2860" "0" "c.2860G>A" "r.(?)" "p.(Gly954Ser)" "" "0000726513" "00010575" "70" "1703" "0" "1704" "0" "c.1703_1704del" "r.(?)" "p.(Thr568IlefsTer18)" "" "0000726514" "00010575" "50" "2501" "0" "2501" "0" "c.2501G>A" "r.(?)" "p.(Arg834Gln)" "" "0000726515" "00010575" "50" "2911" "0" "2911" "0" "c.2911C>T" "r.(?)" "p.(Pro971Ser)" "" "0000808100" "00010575" "30" "270" "0" "270" "0" "c.270C>T" "r.(?)" "p.(Asn90=)" "" "0000808101" "00010575" "50" "884" "0" "884" "0" "c.884C>T" "r.(?)" "p.(Ser295Leu)" "" "0000808102" "00010575" "30" "1165" "3" "1165" "3" "c.1165+3C>T" "r.spl?" "p.?" "" "0000808103" "00010575" "30" "1165" "3" "1165" "3" "c.1165+3C>T" "r.spl?" "p.?" "" "0000808104" "00010575" "30" "1983" "0" "1983" "0" "c.1983C>T" "r.(?)" "p.(Ala661=)" "" "0000808105" "00010575" "30" "2099" "0" "2099" "0" "c.2099C>T" "r.(?)" "p.(Pro700Leu)" "" "0000808106" "00010575" "30" "2437" "0" "2437" "0" "c.2437G>A" "r.(?)" "p.(Gly813Ser)" "" "0000808107" "00010575" "50" "2962" "0" "2962" "0" "c.2962C>T" "r.(?)" "p.(Arg988Trp)" "" "0000855001" "00010575" "30" "363" "4" "363" "4" "c.363+4C>T" "r.spl?" "p.?" "" "0000855002" "00010575" "50" "1346" "0" "1346" "0" "c.1346A>G" "r.(?)" "p.(Lys449Arg)" "" "0000855003" "00010575" "50" "2920" "0" "2920" "0" "c.2920G>A" "r.(?)" "p.(Asp974Asn)" "" "0000865365" "00010575" "30" "885" "0" "885" "0" "c.885G>A" "r.(?)" "p.(Ser295=)" "" "0000865366" "00010575" "50" "1447" "0" "1447" "0" "c.1447G>A" "r.(?)" "p.(Val483Ile)" "" "0000865367" "00010575" "30" "3071" "0" "3071" "0" "c.3071G>A" "r.(?)" "p.(Arg1024Gln)" "" "0000870700" "00010575" "50" "352" "0" "352" "0" "c.352A>Y" "r.(?)" "p.(Ile118Leu)" "" "0000894043" "00010575" "30" "153" "0" "153" "0" "c.153C>T" "r.(?)" "p.(Thr51=)" "" "0000894044" "00010575" "10" "720" "19" "720" "19" "c.720+19C>G" "r.(=)" "p.(=)" "" "0000894045" "00010575" "30" "1937" "19" "1937" "19" "c.1937+19C>T" "r.(=)" "p.(=)" "" "0000914897" "00010575" "50" "3088" "0" "3088" "0" "c.3088C>T" "r.(?)" "p.(Arg1030Cys)" "" "0001003421" "00010575" "50" "809" "0" "809" "0" "c.809A>G" "r.(?)" "p.(Asn270Ser)" "" "0001003423" "00010575" "30" "1750" "6" "1750" "8" "c.1750+6_1750+8del" "r.(=)" "p.(=)" "" "0001003427" "00010575" "30" "2105" "0" "2105" "0" "c.2105C>T" "r.(?)" "p.(Thr702Ile)" "" "0001041987" "00010575" "30" "720" "20" "720" "20" "c.720+20del" "r.(=)" "p.(=)" "" "0001046649" "00010575" "50" "3081" "0" "3081" "0" "c.3081C>A" "r.(?)" "p.(His1027Gln)" "" "0001055788" "00010575" "50" "701" "0" "701" "0" "c.701C>T" "r.(?)" "p.(Thr234Met)" "" "0001058826" "00010575" "70" "1640" "0" "1640" "0" "c.1640G>T" "r.(?)" "p.(Arg547Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{variantid}}" "0000095530" "0000154099" "0000095531" "0000154100" "0000095532" "0000154101" "0000095533" "0000154102" "0000095545" "0000154115" "0000145529" "0000237903" "0000145529" "0000237904" "0000165289" "0000368947" "0000165289" "0000368948" "0000292958" "0000649647" "0000292959" "0000649648" "0000292960" "0000649649" "0000305720" "0000669408" "0000413242" "0000870700" "0000470704" "0001058826"