### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KIF21A) # 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}}" "KIF21A" "kinesin family member 21A" "12" "q12" "unknown" "NG_017067.1" "UD_132118726231" "" "https://www.LOVD.nl/KIF21A" "" "1" "19349" "55605" "608283" "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/KIF21A_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-12-23 14:55:55" "00006" "2025-11-13 14:05:45" ## 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}}" "00025791" "KIF21A" "transcript variant 1" "004" "NM_001173464.1" "" "NP_001166935.1" "" "" "" "-420" "6221" "5025" "39837192" "39687030" "00006" "2022-12-23 14:47:33" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00291" "ADHD" "attention deficit-hyperactivity disorder (ADHD)" "AD" "143465" "" "" "" "00006" "2013-12-20 10:47:26" "00006" "2021-12-10 21:51:32" "01332" "CFEOM1;CFEOM3B" "fibrosis, extraocular muscles, congenital, type 1" "AD" "135700" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2022-12-23 14:57:03" "04191" "CCDD" "dysinnervation disorder, cranial, congenital (CCDD)" "" "" "" "" "" "00006" "2015-02-14 17:51:00" "00006" "2015-12-08 23:59:30" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "KIF21A" "01332" ## Individuals ## Do not remove or alter this header ## ## Count = 21 "{{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}}" "00207800" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00208845" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00273171" "" "" "" "1" "" "02061" "" "" "M" "" "Saudi Arabia" "" "0" "" "" "Arab" "" "00290686" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290687" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290688" "" "" "" "174" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290689" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304351" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00327520" "" "" "" "1" "" "01823" "" "" "F" "no" "United Kingdom (Great Britain)" "" "" "" "" "" "F3:I-2" "00327521" "" "" "" "1" "" "01823" "" "" "F" "" "" "" "" "" "" "" "F3:II-2" "00327522" "" "" "" "1" "" "01823" "" "" "F" "" "" "" "" "" "" "" "F3:III-1" "00327527" "" "" "" "1" "" "01823" "" "" "" "" "" "" "" "" "" "" "S1:II-1" "00335193" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "patient" "" "no" "Netherlands" "" "0" "" "" "" "5669" "00409866" "" "" "" "1" "" "03322" "{PMID:Masunaga 2022:36224347}" "2-generation family, 1 affected, unaffected carrier parents" "M" "no" "Japan" "" "0" "" "" "" "Pat1" "00428236" "" "" "" "3" "" "00006" "{PMID:Falb 2023:34740919}, {DOI:Falb 2023:10.1136/jmedgenet-2021-108064}" "family, 3 affected fetuses (F, 2M)" "M" "" "Germany" "<0d" "0" "" "" "" "Fam22PatII1" "00428237" "" "" "00428236" "1" "" "00006" "{PMID:Falb 2023:34740919}, {DOI:Falb 2023:10.1136/jmedgenet-2021-108064}" "fetus 2" "F" "" "Germany" "<0d" "0" "" "" "" "Fam22PatII2" "00428238" "" "" "00428236" "1" "" "00006" "{PMID:Falb 2023:34740919}, {DOI:Falb 2023:10.1136/jmedgenet-2021-108064}" "fetus 3" "M" "" "Germany" "<0d" "0" "" "" "" "Fam22PatII4" "00428239" "" "" "" "2" "" "00006" "{PMID:Falb 2023:34740919}, {DOI:Falb 2023:10.1136/jmedgenet-2021-108064}" "family, 2 affected fetuses (F, M)" "M" "" "Germany" "<0d" "0" "" "" "" "Fam23PatII1" "00428240" "" "" "00428239" "1" "" "00006" "{PMID:Falb 2023:34740919}, {DOI:Falb 2023:10.1136/jmedgenet-2021-108064}" "fetus 2" "F" "" "Germany" "<0d" "0" "" "" "" "Fam23PatII2" "00444291" "" "" "" "1" "" "00006" "{PMID:Moon 2021:35052368}" "" "" "" "Korea" "" "0" "" "" "" "Pat53" "00469037" "" "" "" "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 = 19 "{{individualid}}" "{{diseaseid}}" "00273171" "00291" "00290686" "00198" "00290687" "00198" "00290688" "00198" "00290689" "00198" "00304351" "00198" "00327520" "04191" "00327521" "04191" "00327522" "04191" "00327527" "04191" "00335193" "00198" "00409866" "05517" "00428236" "00198" "00428237" "00198" "00428238" "00198" "00428239" "00198" "00428240" "00198" "00444291" "04214" "00469037" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00291, 01332, 04191, 04214, 05517 ## Count = 11 "{{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}}" "0000155582" "00198" "00207800" "01164" "Unknown" "" "HP:0003473 (Fatigable weakness)" "" "" "" "" "" "" "" "" "" "" "" "0000157454" "00198" "00208845" "01164" "Unknown" "" "HP:0000544 (External ophthalmoplegia); HP:0003198 (Myopathy)" "" "" "" "" "" "" "" "" "" "" "" "0000252908" "00198" "00335193" "00000" "Unknown" "" "Unknown syndrome with developmental motor delay and facial dysmorfism; 0y-diagnosis visual impairment" "" "" "" "" "" "" "" "" "" "developmental eye defect" "" "0000301981" "05517" "00409866" "03322" "Familial, autosomal recessive" "" "see paper; ..." "" "" "skeletal dysplasia at born" "NANS" "" "" "" "" "SEMDG" "NANS-CDG" "" "0000319148" "00198" "00428236" "00006" "Familial, autosomal recessive" "<0d" "termination pregnancy 24w; reduced fetal movements, polyhydramnios, scalp oedema, pulmonary hypoplasia, missing stomach filling, diaphragmatic protrusion, thoracic kyphoscoliosis; contractures elbows, wrists, fingers, knees, ankles, talipes equinovarus (bilateral); hypertelorism, retrognathia, cleft palate, flat broad nose, low-set ears; hypotrophy of lower leg muscles; internally rotated shoulders, straight ribs, narrow long tubular bones" "" "" "" "" "" "" "" "" "" "fetal akinesia" "" "0000319149" "00198" "00428237" "00006" "Familial, autosomal recessive" "<0d" "termination pregnancy 26w; reduced fetal movements, polyhydramnios, IUGR, scalp oedema, thoracic hypoplasia, hydrothorax, ascites, missing stomach filling, diaphragmatic protrusion; contractures elbows, fingers, knees, talipes equinovarus (bilateral); microglossia, mircognathia and retrognathia, cleft palate, high-arched palate, low-set ears; jejunal perforation, dilated tortuous ureter (bilateral), internally rotated shoulders, thoracic scoliosis, additional cervical rib, straight ribs, narrow long tubular bones, femoral anteversion (bilateral), genu recurvatum (bilateral)" "" "" "" "" "" "" "" "" "" "fetal akinesia" "" "0000319150" "00198" "00428238" "00006" "Familial, autosomal recessive" "<0d" "termination pregnancy 21w; reduced fetal movements, micrognathia, prenasal oedema, neck oedema, pulmonary hypoplasia; contractures knees, talipes equinovarus (bilateral); autopsy not performed" "" "" "" "" "" "" "" "" "" "fetal akinesia" "" "0000319151" "00198" "00428239" "00006" "Familial, autosomal recessive" "<0d" "termination pregnancy 29w; reduced fetal movements, polyhydramnios, brachycephaly, scalp oedema, prenasal oedema, neck oedema, pulmonary hypoplasia, dextrocardia, gastrointestinal abnormalities; contractures fingers, wrists, talipes equinovarus (bilateral), rocker-bottom feet; skull deformation with protruding skull bones, micrognathia and retrognathia, clinodactyly of 2nd digit (bilateral); cerebral ventriculomegaly; severe pulmonary hypoplasia, dextrocardia, clenched hands with crossing fingers (bilateral)" "" "" "" "" "" "" "" "" "" "fetal akinesia" "" "0000319152" "00198" "00428240" "00006" "Familial, autosomal recessive" "<0d" "termination pregnancy 28w; reduced fetal movements, polyhydramnios, scalp oedema, prenasal oedema, pulmonary hypoplasia; contractures fingers, wrists, talipes equinovarus (bilateral); micrognathia and retrognathia (autopsy not performed)" "" "" "" "" "" "" "" "" "" "fetal akinesia" "" "0000333544" "04214" "00444291" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "congenital cranial dys-innervational disorder" "" "0000354190" "00198" "00469037" "00006" "Isolated (sporadic)" "" "developmental delay, nystagmus, ptosis, hypotonia" "" "" "" "" "" "" "" "" "CFEOM1;NF1;MRD7" "multiple congenital anomalies" "" ## Screenings ## Do not remove or alter this header ## ## Count = 21 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000208841" "00207800" "1" "01164" "01164" "2018-11-30 14:45:19" "" "" "SEQ-NG" "DNA" "" "" "0000209890" "00208845" "1" "01164" "01164" "2018-12-18 12:12:02" "" "" "SEQ-NG" "DNA" "" "" "0000274326" "00273171" "1" "02061" "02061" "2019-12-20 18:45:22" "" "" "SEQ-NG-IT" "DNA" "" "WES" "0000291854" "00290686" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291855" "00290687" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291856" "00290688" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291857" "00290689" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305480" "00304351" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000328735" "00327520" "1" "01823" "01823" "2021-01-22 17:38:26" "" "" "SEQ" "DNA" "" "" "0000328736" "00327521" "1" "01823" "01823" "2021-01-22 17:47:13" "" "" "SEQ" "DNA" "" "" "0000328737" "00327522" "1" "01823" "01823" "2021-01-22 17:49:02" "" "" "SEQ" "DNA" "" "" "0000328742" "00327527" "1" "01823" "01823" "2021-01-22 17:58:26" "" "" "SEQ" "DNA" "" "" "0000336422" "00335193" "1" "00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "WES" "0000411129" "00409866" "1" "03322" "03322" "2022-05-13 03:14:16" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000429647" "00428236" "1" "00006" "00006" "2022-12-24 16:09:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000429648" "00428237" "1" "00006" "00006" "2022-12-24 16:09:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000429649" "00428238" "1" "00006" "00006" "2022-12-24 16:09:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000429650" "00428239" "1" "00006" "00006" "2022-12-24 16:09:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000429651" "00428240" "1" "00006" "00006" "2022-12-24 16:09:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000445865" "00444291" "1" "00006" "00006" "2023-12-21 19:04:03" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000470705" "00469037" "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 = 2 "{{screeningid}}" "{{geneid}}" "0000336422" "KIF21A" "0000411129" "NANS" ## 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 = 70 "{{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}}" "0000253695" "0" "10" "12" "39698647" "39698647" "subst" "0.00126318" "01943" "KIF21A_000001" "g.39698647A>G" "" "" "" "KIF21A(NM_001173464.1):c.4536T>C (p.T1512=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39304845A>G" "" "benign" "" "0000285813" "0" "30" "12" "39735937" "39735937" "subst" "0.00221754" "02326" "KIF21A_000005" "g.39735937G>C" "" "" "" "KIF21A(NM_001173464.2):c.1713-11C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39342135G>C" "" "likely benign" "" "0000285814" "0" "10" "12" "39735348" "39735348" "subst" "0.0353213" "02326" "KIF21A_000004" "g.39735348C>A" "" "" "" "KIF21A(NM_001173464.2):c.1880G>T (p.G627V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39341546C>A" "" "benign" "" "0000285816" "0" "30" "12" "39709031" "39709031" "subst" "0.000362715" "02326" "KIF21A_000002" "g.39709031C>T" "" "" "" "KIF21A(NM_001173464.2):c.3959G>A (p.R1320K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39315229C>T" "" "likely benign" "" "0000343483" "0" "50" "12" "39726490" "39726490" "subst" "1.62689E-5" "02327" "KIF21A_000007" "g.39726490C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39332688C>T" "" "VUS" "" "0000346197" "0" "10" "12" "39735348" "39735348" "subst" "0.0353213" "02327" "KIF21A_000004" "g.39735348C>A" "" "" "" "KIF21A(NM_001173464.2):c.1880G>T (p.G627V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39341546C>A" "" "benign" "" "0000347915" "0" "90" "12" "39726409" "39726409" "subst" "0" "02327" "KIF21A_000006" "g.39726409A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39332607A>T" "" "pathogenic" "" "0000438836" "0" "50" "12" "39726734" "39726734" "subst" "4.06626E-6" "01164" "KIF21A_000008" "g.39726734C>G" "" "" "" "" "ACMG grading: PP3,PM2" "Germline" "" "rs781301465" "0" "" "" "g.39332932C>G" "" "VUS" "ACMG" "0000440135" "0" "70" "12" "39726067" "39726069" "del" "0" "01164" "KIF21A_000009" "g.39726067_39726069del" "" "" "" "" "ACMG grading: PM6,PM4,PM2; de novo after segregation analysis; reported in Wang (2011) Int J Mol Med epub" "Germline" "" "" "0" "" "" "g.39332265_39332267del" "" "likely pathogenic" "ACMG" "0000548012" "0" "10" "12" "39698641" "39698641" "subst" "0.0074767" "01943" "KIF21A_000010" "g.39698641G>C" "" "" "" "KIF21A(NM_001173464.1):c.4542C>G (p.S1514=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39304839G>C" "" "benign" "" "0000548013" "0" "30" "12" "39705271" "39705271" "subst" "0.000581235" "01943" "KIF21A_000011" "g.39705271T>C" "" "" "" "KIF21A(NM_001173464.1):c.4044A>G (p.K1348=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39311469T>C" "" "likely benign" "" "0000548014" "0" "50" "12" "39709755" "39709755" "subst" "0" "01943" "KIF21A_000012" "g.39709755G>T" "" "" "" "KIF21A(NM_001173464.1):c.3926C>A (p.S1309Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39315953G>T" "" "VUS" "" "0000548015" "0" "50" "12" "39716500" "39716500" "subst" "0.000857284" "01943" "KIF21A_000013" "g.39716500G>C" "" "" "" "KIF21A(NM_001173464.1):c.3641C>G (p.P1214R), KIF21A(NM_017641.4):c.3602C>G (p.P1201R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39322698G>C" "" "VUS" "" "0000548016" "0" "30" "12" "39724052" "39724052" "subst" "0.00126525" "01943" "KIF21A_000014" "g.39724052A>G" "" "" "" "KIF21A(NM_001173464.1):c.3332T>C (p.V1111A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39330250A>G" "" "likely benign" "" "0000548017" "0" "30" "12" "39724550" "39724564" "dup" "0" "01943" "KIF21A_000015" "g.39724550_39724564dup" "" "" "" "KIF21A(NM_001173464.1):c.3319+1_3319+2insCCTTGTAAAGCATGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39330748_39330762dup" "" "likely benign" "" "0000548018" "0" "90" "12" "39726207" "39726207" "subst" "0" "02327" "KIF21A_000016" "g.39726207G>A" "" "" "" "KIF21A(NM_001173464.2):c.2860C>T (p.(Arg954Trp)), KIF21A(NM_017641.4):c.2821C>T (p.R941W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39332405G>A" "" "pathogenic" "" "0000548019" "0" "50" "12" "39726514" "39726514" "subst" "2.03432E-5" "01943" "KIF21A_000017" "g.39726514C>T" "" "" "" "KIF21A(NM_001173464.1):c.2735G>A (p.R912Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39332712C>T" "" "VUS" "" "0000548020" "0" "30" "12" "39726716" "39726716" "subst" "0.000264256" "01943" "KIF21A_000018" "g.39726716G>A" "" "" "" "KIF21A(NM_001173464.1):c.2681C>T (p.T894M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39332914G>A" "" "likely benign" "" "0000548021" "0" "30" "12" "39734066" "39734066" "subst" "0.000448785" "01943" "KIF21A_000019" "g.39734066T>G" "" "" "" "KIF21A(NM_001173464.1):c.2211A>C (p.A737=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39340264T>G" "" "likely benign" "" "0000614133" "0" "30" "12" "39730970" "39730970" "subst" "1.22197E-5" "01943" "KIF21A_000022" "g.39730970C>T" "" "" "" "KIF21A(NM_001173464.1):c.2346G>A (p.E782=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39337168C>T" "" "likely benign" "" "0000614134" "0" "30" "12" "39751215" "39751215" "subst" "0.00180445" "02326" "KIF21A_000023" "g.39751215C>G" "" "" "" "KIF21A(NM_001173464.2):c.1240G>C (p.(Gly414Arg), p.G414R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39357413C>G" "" "likely benign" "" "0000622877" "0" "50" "12" "39724649" "39724649" "subst" "0" "01943" "KIF21A_000021" "g.39724649T>C" "" "" "" "KIF21A(NM_001173464.1):c.3218A>G (p.E1073G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39330847T>C" "" "VUS" "" "0000622878" "0" "30" "12" "39752157" "39752157" "subst" "0.000349292" "01943" "KIF21A_000024" "g.39752157T>C" "" "" "" "KIF21A(NM_001173464.1):c.1038A>G (p.A346=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39358355T>C" "" "likely benign" "" "0000628283" "21" "50" "12" "39701374" "39701374" "subst" "4.06296E-6" "02061" "KIF21A_000025" "g.39701374G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.39307572G>C" "" "VUS" "" "0000648543" "1" "30" "12" "39696936" "39696936" "subst" "8.55725E-5" "03575" "KIF21A_000026" "g.39696936A>C" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs142038295}" "Germline" "" "rs142038295" "0" "" "" "g.39303134A>C" "" "likely benign" "" "0000648544" "1" "30" "12" "39725496" "39725496" "subst" "0.00222802" "03575" "KIF21A_000027" "g.39725496T>C" "6/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 heterozygous, no homozygous; {DB:CLININrs142268373}" "Germline" "" "rs142268373" "0" "" "" "g.39331694T>C" "" "likely benign" "" "0000648545" "1" "30" "12" "39735348" "39735348" "subst" "0.0353213" "03575" "KIF21A_000004" "g.39735348C>A" "174/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "174 heterozygous; {DB:CLININrs79089655}" "Germline" "" "rs79089655" "0" "" "" "g.39341546C>A" "" "likely benign" "" "0000648546" "1" "30" "12" "39745624" "39745624" "subst" "0" "03575" "KIF21A_000028" "g.39745624T>C" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs149219011}" "Germline" "" "rs149219011" "0" "" "" "g.39351822T>C" "" "likely benign" "" "0000657084" "0" "30" "12" "39761846" "39761846" "del" "0" "01943" "KIF21A_000029" "g.39761846del" "" "" "" "KIF21A(NM_001173464.1):c.451-6delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39368044del" "" "likely benign" "" "0000669168" "3" "30" "12" "39735348" "39735348" "subst" "0.0353213" "03575" "KIF21A_000004" "g.39735348C>A" "2/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs79089655}" "Germline" "" "rs79089655" "0" "" "" "g.39341546C>A" "" "likely benign" "" "0000679508" "0" "50" "12" "39735383" "39735385" "del" "0" "01943" "KIF21A_000030" "g.39735383_39735385del" "" "" "" "KIF21A(NM_001173464.1):c.1860_1862delGGA (p.E621del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679509" "0" "50" "12" "39752123" "39752123" "subst" "0" "01943" "KIF21A_000031" "g.39752123T>A" "" "" "" "KIF21A(NM_001173464.1):c.1072A>T (p.T358S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679510" "0" "50" "12" "39763663" "39763663" "subst" "1.62653E-5" "01943" "KIF21A_000032" "g.39763663A>C" "" "" "" "KIF21A(NM_001173464.1):c.318T>G (p.I106M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691329" "0" "30" "12" "39735394" "39735394" "subst" "2.91201E-5" "01943" "KIF21A_000033" "g.39735394C>T" "" "" "" "KIF21A(NM_001173464.1):c.1834G>A (p.D612N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691330" "0" "50" "12" "39761830" "39761830" "subst" "0" "01943" "KIF21A_000034" "g.39761830T>C" "" "" "" "KIF21A(NM_001173464.1):c.455A>G (p.Y152C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000712762" "0" "70" "12" "39726168" "39726168" "subst" "0" "01823" "KIF21A_000035" "g.39726168T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "" "" "likely pathogenic (dominant)" "" "0000712763" "21" "70" "12" "39726168" "39726168" "subst" "0" "01823" "KIF21A_000035" "g.39726168T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic (dominant)" "" "0000712764" "21" "70" "12" "39726168" "39726168" "subst" "0" "01823" "KIF21A_000035" "g.39726168T>C" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic (dominant)" "" "0000712769" "0" "70" "12" "39726168" "39726168" "subst" "0" "01823" "KIF21A_000035" "g.39726168T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "" "" "likely pathogenic (dominant)" "" "0000724017" "0" "50" "12" "39730909" "39730909" "subst" "2.04063E-5" "01943" "KIF21A_000036" "g.39730909G>A" "" "" "" "KIF21A(NM_001173464.1):c.2407C>T (p.R803C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724018" "0" "30" "12" "39745710" "39745710" "subst" "0.000243835" "01943" "KIF21A_000037" "g.39745710C>T" "" "" "" "KIF21A(NM_001173464.1):c.1542G>A (p.A514=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724019" "0" "50" "12" "39751191" "39751191" "subst" "4.06365E-6" "01943" "KIF21A_000038" "g.39751191A>G" "" "" "" "KIF21A(NM_001173464.1):c.1264T>C (p.F422L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724020" "0" "30" "12" "39756911" "39756911" "subst" "1.21859E-5" "01943" "KIF21A_000039" "g.39756911G>A" "" "" "" "KIF21A(NM_001173464.1):c.1008C>T (p.L336=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000735697" "1" "90" "12" "39726409" "39726409" "subst" "0" "00000" "KIF21A_000006" "g.39726409A>T" "" "{PMID:Haer-Wigman 2017:28224992}" "" "NM_001173464.1:2840T>A (Met947Lys)" "" "De novo" "" "" "0" "" "" "g.39332607A>T" "" "pathogenic" "" "0000805699" "0" "30" "12" "39716649" "39716649" "subst" "2.45361E-5" "01943" "KIF21A_000040" "g.39716649C>T" "" "" "" "KIF21A(NM_001173464.1):c.3492G>A (p.L1164=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805700" "0" "30" "12" "39725496" "39725496" "subst" "0.00222802" "01943" "KIF21A_000027" "g.39725496T>C" "" "" "" "KIF21A(NM_001173464.1):c.3149A>G (p.N1050S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805701" "0" "30" "12" "39726829" "39726829" "subst" "0.000170747" "01943" "KIF21A_000041" "g.39726829A>G" "" "" "" "KIF21A(NM_001173464.1):c.2568T>C (p.D856=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805702" "0" "30" "12" "39735377" "39735377" "subst" "6.19707E-5" "01943" "KIF21A_000042" "g.39735377C>T" "" "" "" "KIF21A(NM_001173464.1):c.1851G>A (p.E617=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862970" "0" "50" "12" "39752141" "39752141" "subst" "0" "01943" "KIF21A_000043" "g.39752141C>G" "" "" "" "KIF21A(NM_001173464.1):c.1054G>C (p.D352H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890555" "0" "30" "12" "39716500" "39716500" "subst" "0.000857284" "02326" "KIF21A_000013" "g.39716500G>C" "" "" "" "KIF21A(NM_001173464.1):c.3641C>G (p.P1214R), KIF21A(NM_017641.4):c.3602C>G (p.P1201R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000909232" "3" "70" "12" "39751109" "39751109" "subst" "0" "00006" "KIF21A_000045" "g.39751109A>T" "" "{PMID:Falb 2023:34740919}, {DOI:Falb 2023:10.1136/jmedgenet-2021-108064}" "" "" "candidate gene" "Germline" "" "" "0" "" "" "g.39357307A>T" "" "likely pathogenic (recessive)" "" "0000909233" "3" "70" "12" "39751109" "39751109" "subst" "0" "00006" "KIF21A_000045" "g.39751109A>T" "" "{PMID:Falb 2023:34740919}, {DOI:Falb 2023:10.1136/jmedgenet-2021-108064}" "" "" "candidate gene" "Germline" "" "" "0" "" "" "g.39357307A>T" "" "likely pathogenic (recessive)" "" "0000909234" "3" "70" "12" "39751109" "39751109" "subst" "0" "00006" "KIF21A_000045" "g.39751109A>T" "" "{PMID:Falb 2023:34740919}, {DOI:Falb 2023:10.1136/jmedgenet-2021-108064}" "" "" "candidate gene" "Germline" "" "" "0" "" "" "g.39357307A>T" "" "likely pathogenic (recessive)" "" "0000909235" "3" "70" "12" "39730946" "39730946" "del" "0" "00006" "KIF21A_000044" "g.39730946del" "" "{PMID:Falb 2023:34740919}, {DOI:Falb 2023:10.1136/jmedgenet-2021-108064}" "" "" "candidate gene" "Germline" "" "" "0" "" "" "g.39337144del" "" "likely pathogenic (recessive)" "" "0000909236" "3" "70" "12" "39730946" "39730946" "del" "0" "00006" "KIF21A_000044" "g.39730946del" "" "{PMID:Falb 2023:34740919}, {DOI:Falb 2023:10.1136/jmedgenet-2021-108064}" "" "" "candidate gene" "Germline" "" "" "0" "" "" "g.39337144del" "" "likely pathogenic (recessive)" "" "0000933154" "21" "90" "12" "39735342" "39735342" "subst" "0.000127575" "00006" "KIF21A_000046" "g.39735342C>A" "" "{PMID:Masunaga 2022:36224347}" "" "" "" "Germline" "" "" "0" "" "" "g.39341540C>A" "" "pathogenic (recessive)" "" "0000933155" "11" "70" "12" "39735377" "39735385" "del" "0" "00006" "KIF21A_000047" "g.39735377_39735385del" "" "{PMID:Masunaga 2022:36224347}" "" "" "" "Germline" "" "" "0" "" "" "g.39341575_39341583del" "" "likely pathogenic (recessive)" "" "0000954050" "21" "70" "12" "39752128" "39752128" "subst" "0" "00006" "KIF21A_000048" "g.39752128A>G" "" "{PMID:Moon 2021:35052368}" "" "" "" "Germline" "" "" "0" "" "" "g.39358326A>G" "" "likely pathogenic" "" "0000966883" "0" "90" "12" "39726207" "39726207" "subst" "0" "02326" "KIF21A_000016" "g.39726207G>A" "" "" "" "KIF21A(NM_001173464.2):c.2860C>T (p.(Arg954Trp)), KIF21A(NM_017641.4):c.2821C>T (p.R941W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000980245" "0" "30" "12" "39761371" "39761371" "subst" "0" "01804" "KIF21A_000049" "g.39761371A>C" "" "" "" "KIF21A(NM_001173464.2):c.600+314T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980246" "0" "30" "12" "39840794" "39840794" "subst" "0" "01804" "KIF21A_000050" "g.39840794G>A" "" "" "" "KIF21A(NM_001173464.2):c.-4022C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999981" "0" "50" "12" "39730900" "39730900" "subst" "0" "01804" "KIF21A_000051" "g.39730900C>G" "" "" "" "KIF21A(NM_017641.3):c.2377G>C (p.(Asp793His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999982" "0" "50" "12" "39730935" "39730935" "subst" "0" "01804" "KIF21A_000052" "g.39730935T>C" "" "" "" "KIF21A(NM_001173464.1):c.2381A>G (p.(His794Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999983" "0" "50" "12" "39751185" "39751185" "subst" "0" "01804" "KIF21A_000053" "g.39751185C>G" "" "" "" "KIF21A(NM_001173464.1):c.1270G>C (p.(Glu424Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026178" "0" "50" "12" "39713729" "39713729" "subst" "0" "02325" "KIF21A_000054" "g.39713729G>A" "" "" "" "KIF21A(NM_017641.4):c.3719C>T (p.S1240L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039210" "0" "50" "12" "39716603" "39716603" "subst" "8.1279E-6" "01804" "KIF21A_000055" "g.39716603C>T" "" "" "" "KIF21A(NM_001173464.2):c.3538G>A (p.(Ala1180Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039211" "0" "90" "12" "39726207" "39726207" "subst" "0" "01804" "KIF21A_000016" "g.39726207G>A" "" "" "" "KIF21A(NM_001173464.2):c.2860C>T (p.(Arg954Trp)), KIF21A(NM_017641.4):c.2821C>T (p.R941W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001039212" "0" "30" "12" "39751215" "39751215" "subst" "0.00180445" "01804" "KIF21A_000023" "g.39751215C>G" "" "" "" "KIF21A(NM_001173464.2):c.1240G>C (p.(Gly414Arg), p.G414R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001054280" "0" "50" "12" "39750684" "39750686" "del" "0" "01804" "KIF21A_000056" "g.39750684_39750686del" "" "" "" "KIF21A(NM_001173464.2):c.1420_1422del (p.(Glu474del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001058827" "0" "90" "12" "39695417" "39695417" "subst" "0" "00006" "KIF21A_000057" "g.39695417A>C" "" "{PMID:Retterer 2016:26633542}" "" "NM_017641.2:c.4757T>G" "variants reported seperately, unknown if mono-allelic or bi-allelic" "De novo" "" "" "0" "" "" "g.39301615A>C" "" "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 KIF21A ## Count = 70 "{{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}}" "0000253695" "00025791" "10" "4536" "0" "4536" "0" "c.4536T>C" "r.(?)" "p.(Thr1512=)" "" "0000285813" "00025791" "30" "1713" "-11" "1713" "-11" "c.1713-11C>G" "r.(=)" "p.(=)" "" "0000285814" "00025791" "10" "1880" "0" "1880" "0" "c.1880G>T" "r.(?)" "p.(Gly627Val)" "" "0000285816" "00025791" "30" "3959" "0" "3959" "0" "c.3959G>A" "r.(?)" "p.(Arg1320Lys)" "" "0000343483" "00025791" "50" "2759" "0" "2759" "0" "c.2759G>A" "r.(?)" "p.(Arg920His)" "" "0000346197" "00025791" "10" "1880" "0" "1880" "0" "c.1880G>T" "r.(?)" "p.(Gly627Val)" "" "0000347915" "00025791" "90" "2840" "0" "2840" "0" "c.2840T>A" "r.(?)" "p.(Met947Lys)" "" "0000438836" "00025791" "50" "2663" "0" "2663" "0" "c.2663G>C" "r.(?)" "p.(Arg888Thr)" "" "0000440135" "00025791" "70" "2998" "0" "3000" "0" "c.2998_3000del" "r.(?)" "p.(Asn1000del)" "" "0000548012" "00025791" "10" "4542" "0" "4542" "0" "c.4542C>G" "r.(?)" "p.(Ser1514=)" "" "0000548013" "00025791" "30" "4044" "0" "4044" "0" "c.4044A>G" "r.(?)" "p.(Lys1348=)" "" "0000548014" "00025791" "50" "3926" "0" "3926" "0" "c.3926C>A" "r.(?)" "p.(Ser1309Tyr)" "" "0000548015" "00025791" "50" "3641" "0" "3641" "0" "c.3641C>G" "r.(?)" "p.(Pro1214Arg)" "" "0000548016" "00025791" "30" "3332" "0" "3332" "0" "c.3332T>C" "r.(?)" "p.(Val1111Ala)" "" "0000548017" "00025791" "30" "3306" "0" "3319" "1" "c.3306_3319+1dup" "r.spl?" "p.?" "" "0000548018" "00025791" "90" "2860" "0" "2860" "0" "c.2860C>T" "r.(?)" "p.(Arg954Trp)" "" "0000548019" "00025791" "50" "2735" "0" "2735" "0" "c.2735G>A" "r.(?)" "p.(Arg912Gln)" "" "0000548020" "00025791" "30" "2681" "0" "2681" "0" "c.2681C>T" "r.(?)" "p.(Thr894Met)" "" "0000548021" "00025791" "30" "2211" "0" "2211" "0" "c.2211A>C" "r.(?)" "p.(Ala737=)" "" "0000614133" "00025791" "30" "2346" "0" "2346" "0" "c.2346G>A" "r.(?)" "p.(Glu782=)" "" "0000614134" "00025791" "30" "1240" "0" "1240" "0" "c.1240G>C" "r.(?)" "p.(Gly414Arg)" "" "0000622877" "00025791" "50" "3218" "0" "3218" "0" "c.3218A>G" "r.(?)" "p.(Glu1073Gly)" "" "0000622878" "00025791" "30" "1038" "0" "1038" "0" "c.1038A>G" "r.(?)" "p.(Ala346=)" "" "0000628283" "00025791" "50" "4435" "0" "4435" "0" "c.4435C>G" "r.(?)" "p.(Leu1479Val)" "" "0000648543" "00025791" "30" "4562" "0" "4562" "0" "c.4562T>G" "r.(?)" "p.(Met1521Arg)" "" "0000648544" "00025791" "30" "3149" "0" "3149" "0" "c.3149A>G" "r.(?)" "p.(Asn1050Ser)" "" "0000648545" "00025791" "30" "1880" "0" "1880" "0" "c.1880G>T" "r.(?)" "p.(Gly627Val)" "" "0000648546" "00025791" "30" "1628" "0" "1628" "0" "c.1628A>G" "r.(?)" "p.(Lys543Arg)" "" "0000657084" "00025791" "30" "451" "-6" "451" "-6" "c.451-6del" "r.(=)" "p.(=)" "" "0000669168" "00025791" "30" "1880" "0" "1880" "0" "c.1880G>T" "r.(?)" "p.(Gly627Val)" "" "0000679508" "00025791" "50" "1860" "0" "1862" "0" "c.1860_1862del" "r.(?)" "p.(Glu621del)" "" "0000679509" "00025791" "50" "1072" "0" "1072" "0" "c.1072A>T" "r.(?)" "p.(Thr358Ser)" "" "0000679510" "00025791" "50" "318" "0" "318" "0" "c.318T>G" "r.(?)" "p.(Ile106Met)" "" "0000691329" "00025791" "30" "1834" "0" "1834" "0" "c.1834G>A" "r.(?)" "p.(Asp612Asn)" "" "0000691330" "00025791" "50" "455" "0" "455" "0" "c.455A>G" "r.(?)" "p.(Tyr152Cys)" "" "0000712762" "00025791" "70" "2899" "0" "2899" "0" "c.2899A>G" "r.(?)" "p.(Arg967Gly)" "" "0000712763" "00025791" "70" "2899" "0" "2899" "0" "c.2899A>G" "r.(?)" "p.(Arg967Gly)" "" "0000712764" "00025791" "70" "2899" "0" "2899" "0" "c.2899A>G" "r.(?)" "p.(Arg967Gly)" "" "0000712769" "00025791" "70" "2899" "0" "2899" "0" "c.2899A>G" "r.(?)" "p.(Arg967Gly)" "" "0000724017" "00025791" "50" "2407" "0" "2407" "0" "c.2407C>T" "r.(?)" "p.(Arg803Cys)" "" "0000724018" "00025791" "30" "1542" "0" "1542" "0" "c.1542G>A" "r.(?)" "p.(Ala514=)" "" "0000724019" "00025791" "50" "1264" "0" "1264" "0" "c.1264T>C" "r.(?)" "p.(Phe422Leu)" "" "0000724020" "00025791" "30" "1008" "0" "1008" "0" "c.1008C>T" "r.(?)" "p.(Leu336=)" "" "0000735697" "00025791" "90" "2840" "0" "2840" "0" "c.2840T>A" "r.(?)" "p.(Met947Lys)" "" "0000805699" "00025791" "30" "3492" "0" "3492" "0" "c.3492G>A" "r.(?)" "p.(Leu1164=)" "" "0000805700" "00025791" "30" "3149" "0" "3149" "0" "c.3149A>G" "r.(?)" "p.(Asn1050Ser)" "" "0000805701" "00025791" "30" "2568" "0" "2568" "0" "c.2568T>C" "r.(?)" "p.(Asp856=)" "" "0000805702" "00025791" "30" "1851" "0" "1851" "0" "c.1851G>A" "r.(?)" "p.(Glu617=)" "" "0000862970" "00025791" "50" "1054" "0" "1054" "0" "c.1054G>C" "r.(?)" "p.(Asp352His)" "" "0000890555" "00025791" "30" "3641" "0" "3641" "0" "c.3641C>G" "r.(?)" "p.(Pro1214Arg)" "" "0000909232" "00025791" "70" "1346" "0" "1346" "0" "c.1346T>A" "r.(?)" "p.(Leu449Ter)" "" "0000909233" "00025791" "70" "1346" "0" "1346" "0" "c.1346T>A" "r.(?)" "p.(Leu449Ter)" "" "0000909234" "00025791" "70" "1346" "0" "1346" "0" "c.1346T>A" "r.(?)" "p.(Leu449Ter)" "" "0000909235" "00025791" "70" "2371" "0" "2371" "0" "c.2371del" "r.(?)" "p.(Arg791GlufsTer8)" "" "0000909236" "00025791" "70" "2371" "0" "2371" "0" "c.2371del" "r.(?)" "p.(Arg791GlufsTer8)" "" "0000933154" "00025791" "90" "1886" "0" "1886" "0" "c.1886G>T" "r.(?)" "p.(Ser629Ile)" "" "0000933155" "00025791" "70" "1854" "0" "1862" "0" "c.1854_1862del" "r.(?)" "p.(Glu619_Glu621del)" "" "0000954050" "00025791" "70" "1067" "0" "1067" "0" "c.1067T>C" "r.(?)" "p.(Met356Thr)" "" "0000966883" "00025791" "90" "2860" "0" "2860" "0" "c.2860C>T" "r.(?)" "p.(Arg954Trp)" "" "0000980245" "00025791" "30" "600" "314" "600" "314" "c.600+314T>G" "r.(=)" "p.(=)" "" "0000980246" "00025791" "30" "-4022" "0" "-4022" "0" "c.-4022C>T" "r.(?)" "p.(=)" "" "0000999981" "00025791" "50" "2416" "0" "2416" "0" "c.2416G>C" "r.(?)" "p.(Asp806His)" "" "0000999982" "00025791" "50" "2381" "0" "2381" "0" "c.2381A>G" "r.(?)" "p.(Glu794Gly)" "" "0000999983" "00025791" "50" "1270" "0" "1270" "0" "c.1270G>C" "r.(?)" "p.(Glu424Gln)" "" "0001026178" "00025791" "50" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Ser1253Leu)" "" "0001039210" "00025791" "50" "3538" "0" "3538" "0" "c.3538G>A" "r.(?)" "p.(Ala1180Thr)" "" "0001039211" "00025791" "90" "2860" "0" "2860" "0" "c.2860C>T" "r.(?)" "p.(Arg954Trp)" "" "0001039212" "00025791" "30" "1240" "0" "1240" "0" "c.1240G>C" "r.(?)" "p.(Gly414Arg)" "" "0001054280" "00025791" "50" "1420" "0" "1422" "0" "c.1420_1422del" "r.(?)" "p.(Glu474del)" "" "0001058827" "00025791" "90" "4796" "0" "4796" "0" "c.4796T>G" "r.(?)" "p.(Leu1599Trp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 22 "{{screeningid}}" "{{variantid}}" "0000208841" "0000438836" "0000209890" "0000440135" "0000274326" "0000628283" "0000291854" "0000648543" "0000291855" "0000648544" "0000291856" "0000648545" "0000291857" "0000648546" "0000305480" "0000669168" "0000328735" "0000712762" "0000328736" "0000712763" "0000328737" "0000712764" "0000328742" "0000712769" "0000336422" "0000735697" "0000411129" "0000933154" "0000411129" "0000933155" "0000429647" "0000909232" "0000429648" "0000909233" "0000429649" "0000909234" "0000429650" "0000909235" "0000429651" "0000909236" "0000445865" "0000954050" "0000470705" "0001058827"