### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KIF22) # 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}}" "KIF22" "kinesin family member 22" "16" "p11.2" "unknown" "NG_032055.1" "UD_134408458792" "" "http://www.LOVD.nl/KIF22" "" "1" "6391" "3835" "603213" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/KIF22_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2012-02-23 00:00:00" "00006" "2017-07-04 20:42:41" "00000" "2026-01-20 18:57:21" ## 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}}" "00024071" "KIF22" "transcript variant 1" "002" "NM_007317.2" "" "NP_015556.1" "" "" "" "-47" "2073" "1998" "29802034" "29816706" "00006" "2015-10-30 17:18:25" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "02457" "SEMDJL2" "dysplasia, spondyloepimetaphyseal, with joint laxity (SEMDJL-2)" "AD" "603546" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "KIF22" "02457" ## Individuals ## Do not remove or alter this header ## ## Count = 14 "{{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}}" "00050370" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected mother/child" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050653" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050683" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected sibling(s)" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00081741" "" "" "" "1" "" "01709" "{PMID:Silveira 2021:34529350}, {DOI:Silveira 2021:10.1002/ajmg.c.31937}" "" "M" "no" "Brazil" "" "0" "" "" "" "Pat26" "00107945" "" "" "" "1" "" "00006" "{PMID:Min 2011:22152677}" "" "F" "" "Korea" "" "0" "" "" "" "" "00107946" "" "" "" "1" "" "00006" "{PMID:Min 2011:22152677}" "" "F" "" "Korea" "" "0" "" "" "" "" "00107947" "" "" "" "1" "" "00006" "{PMID:Min 2011:22152677}" "" "M" "" "Korea" "" "0" "" "" "" "" "00107948" "" "" "" "1" "" "00006" "{PMID:Min 2011:22152677}" "" "F" "" "Korea" "" "0" "" "" "" "" "00107949" "" "" "" "1" "" "00006" "{PMID:Min 2011:22152677}" "" "F" "" "Korea" "" "0" "" "" "" "" "00107950" "" "" "" "1" "" "00006" "{PMID:Min 2011:22152677}" "" "M" "" "Korea" "" "0" "" "" "" "" "00107951" "" "" "" "1" "" "00006" "{PMID:Min 2011:22152677}" "" "F" "" "Korea" "" "0" "" "" "" "" "00390025" "" "" "" "1" "" "00000" "{PMID:Ruberto 2020:32507954}" "" "?" "" "Italy" "" "0" "" "" "" "3" "00419620" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "M" "" "Greece" "" "0" "" "" "" "8113" "00465860" "" "" "" "1" "" "00006" "{PMID:Ranza 2017:28229453}" "patient, no family history" "" "yes" "Algeria" "" "0" "" "" "" "Pat17" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 14 "{{individualid}}" "{{diseaseid}}" "00050370" "00198" "00050653" "00198" "00050683" "00198" "00081741" "02457" "00107945" "02457" "00107946" "02457" "00107947" "02457" "00107948" "02457" "00107949" "02457" "00107950" "02457" "00107951" "02457" "00390025" "04214" "00419620" "00198" "00465860" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02457, 04214 ## Count = 13 "{{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}}" "0000036982" "00198" "00050370" "00006" "Unknown" "" "cleft palate, micrognathia, upslanted palpebral fissure, obesity, global developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000037265" "00198" "00050653" "00006" "Isolated (sporadic)" "" "global developmental delay, specific learning disability, constipation, hypoplasia of dental enamel" "" "" "" "" "" "" "" "" "" "" "" "0000037295" "00198" "00050683" "00006" "Unknown" "" "microcephaly, abnormality of the outer ear, prominent metopic ridge, narrow mouth, inferior vermis hypoplasia, delayed speech and language development" "" "" "" "" "" "" "" "" "" "" "" "0000085689" "02457" "00107945" "00006" "Familial, autosomal dominant" "45y" "Spondyloepimetaphyseal dysplasia with joint laxity, type 2" "" "" "" "" "" "" "" "" "" "" "" "0000085690" "02457" "00107946" "00006" "Familial, autosomal dominant" "11y" "Spondyloepimetaphyseal dysplasia with joint laxity, type 2" "" "" "" "" "" "" "" "" "" "" "" "0000085691" "02457" "00107947" "00006" "Familial, autosomal dominant" "08y" "Spondyloepimetaphyseal dysplasia with joint laxity, type 2" "" "" "" "" "" "" "" "" "" "" "" "0000085692" "02457" "00107948" "00006" "Familial, autosomal dominant" "04y" "Spondyloepimetaphyseal dysplasia with joint laxity, type 2" "" "" "" "" "" "" "" "" "" "" "" "0000085693" "02457" "00107949" "00006" "Familial, autosomal dominant" "13y" "Spondyloepimetaphyseal dysplasia with joint laxity, type 2" "" "" "" "" "" "" "" "" "" "" "" "0000085694" "02457" "00107950" "00006" "Familial, autosomal dominant" "04y" "Spondyloepimetaphyseal dysplasia with joint laxity, type 2" "" "" "" "" "" "" "" "" "" "" "" "0000085695" "02457" "00107951" "00006" "Familial, autosomal dominant" "12y" "Spondyloepimetaphyseal dysplasia with joint laxity, type 2" "" "" "" "" "" "" "" "" "" "" "" "0000283565" "04214" "00390025" "00000" "Unknown" "11m" "Pale and tilted optic disk associated to hypoplasia, tortuous retinal vessels, non-homogeneous macula" "" "" "" "" "" "" "" "" "Retinal dystrophy" "" "" "0000310901" "00198" "00419620" "02300" "Isolated (sporadic)" "20y" "" "" "" "" "" "" "" "" "" "" "skeletal and/or connective tissue abnormality" "" "0000351309" "00198" "00465860" "00006" "Isolated (sporadic)" "" "see paper; ..., no intrauterine growth retadation; 3y-short stature (-3 SD); retarded bone age; joint dislocations hips; hands slender phalanges; kyphoscoliosis, hemivertebrae, sacrum anomaly, prominent heels, slender distal femur, sternal protrusion; tracheomalacia; flat nose, midface retrusion, thick lips; no intellectual disability" "" "" "" "" "" "" "" "" "" "chondrodysplasia, multiple dislocations" "" ## Screenings ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050315" "00050370" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050598" "00050653" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050628" "00050683" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000081870" "00081741" "1" "01709" "01709" "2016-10-21 15:13:48" "" "" "PCR" "DNA" "Blood" "" "0000108412" "00107945" "1" "00006" "00002" "2012-02-24 09:01:41" "" "" "SEQ-NG-I" "DNA" "" "" "0000108413" "00107946" "1" "00006" "00002" "2012-02-24 09:01:41" "" "" "SEQ-NG-I" "DNA" "" "" "0000108414" "00107947" "1" "00006" "00002" "2012-02-24 09:01:41" "" "" "SEQ-NG-I" "DNA" "" "" "0000108415" "00107948" "1" "00006" "00002" "2012-02-24 09:01:41" "" "" "SEQ-NG-I" "DNA" "" "" "0000108416" "00107949" "1" "00006" "00002" "2012-02-24 09:01:41" "" "" "SEQ-NG-I" "DNA" "" "" "0000108417" "00107950" "1" "00006" "00002" "2012-02-24 09:01:41" "" "" "SEQ-NG-I" "DNA" "" "" "0000108418" "00107951" "1" "00006" "00002" "2012-02-24 09:01:41" "" "" "SEQ-NG-I" "DNA" "" "" "0000391266" "00390025" "1" "00000" "03840" "2021-11-08 12:01:50" "" "" "arrayCGH" "DNA" "" "targeted sequencing with 1 of 4 panels of OFTALMOgenics probes" "0000420924" "00419620" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000467511" "00465860" "1" "00006" "00006" "2025-06-07 14:19:00" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{geneid}}" "0000081870" "KIF22" "0000108412" "KIF22" "0000108413" "KIF22" "0000108414" "KIF22" "0000108415" "KIF22" "0000108416" "KIF22" "0000108417" "KIF22" "0000108418" "KIF22" "0000391266" "CLN3" ## 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 = 55 "{{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}}" "0000079295" "21" "90" "16" "29606538" "30215625" "del" "0" "00006" "FAM57B_000002" "g.29606538_30215625del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "Germline" "" "" "0" "" "" "g.29595217_30204304del" "" "pathogenic" "" "0000079578" "21" "90" "16" "29592782" "30257228" "dup" "0" "00006" "FAM57B_000004" "g.29592782_30257228dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "increased gene dosage" "Germline" "" "" "0" "" "" "g.29581461_30245907dup" "" "pathogenic" "" "0000079608" "0" "90" "16" "27183151" "31888684" "dup" "0" "00006" "CLN3_000010" "g.27183151_31888684dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "mosaicism, copy number 3 in 0.33 cells" "Somatic" "" "" "0" "" "" "g.27171830_31877363dup" "" "pathogenic" "" "0000132546" "0" "70" "16" "29810410" "29810410" "subst" "0" "01709" "KIF22_000006" "g.29810410G>C" "" "{PMID:Silveira 2021:34529350}, {DOI:Silveira 2021:10.1002/ajmg.c.31937}" "" "" "ACMG PP4, PM2, PS2" "De novo" "" "" "0" "" "" "g.29799089G>C" "" "likely pathogenic (dominant)" "ACMG" "0000174364" "1" "97" "16" "29809961" "29809961" "subst" "0" "00006" "KIF22_000001" "g.29809961C>T" "" "{PMID:Min 2011:22152677}" "" "" "" "Germline" "" "" "0" "" "" "g.29798640C>T" "" "pathogenic" "" "0000174365" "21" "97" "16" "29809961" "29809961" "subst" "0" "00006" "KIF22_000001" "g.29809961C>T" "" "{PMID:Min 2011:22152677}" "" "" "" "Germline" "" "" "0" "" "" "g.29798640C>T" "" "pathogenic" "" "0000174366" "21" "97" "16" "29809961" "29809961" "subst" "0" "00006" "KIF22_000001" "g.29809961C>T" "" "{PMID:Min 2011:22152677}" "" "" "" "Germline" "" "" "0" "" "" "g.29798640C>T" "" "pathogenic" "" "0000174367" "1" "97" "16" "29809962" "29809962" "subst" "0" "00006" "KIF22_000002" "g.29809962C>T" "" "{PMID:Min 2011:22152677}" "" "" "" "De novo" "" "" "0" "" "" "g.29798641C>T" "" "pathogenic" "" "0000174368" "1" "97" "16" "29809962" "29809962" "subst" "0" "00006" "KIF22_000002" "g.29809962C>T" "" "{PMID:Min 2011:22152677}" "" "" "" "De novo" "" "" "0" "" "" "g.29798641C>T" "" "pathogenic" "" "0000174369" "1" "97" "16" "29809965" "29809965" "subst" "0" "00006" "KIF22_000003" "g.29809965G>A" "" "{PMID:Min 2011:22152677}" "" "" "" "De novo" "" "" "0" "" "" "g.29798644G>A" "" "pathogenic" "" "0000174370" "1" "97" "16" "29809965" "29809965" "subst" "0" "00006" "KIF22_000003" "g.29809965G>A" "" "{PMID:Min 2011:22152677}" "" "" "" "De novo" "" "" "0" "" "" "g.29798644G>A" "" "pathogenic" "" "0000174371" "21" "13" "16" "29810441" "29810441" "subst" "0" "00006" "KIF22_000004" "g.29810441G>A" "" "{PMID:Min 2011:22152677}" "" "" "" "Germline" "" "" "0" "" "" "g.29799120G>A" "" "benign" "" "0000174372" "21" "13" "16" "29815510" "29815510" "subst" "0" "00006" "KIF22_000005" "g.29815510A>T" "" "{PMID:Min 2011:22152677}" "" "" "" "Germline" "" "" "0" "" "" "g.29804189A>T" "" "benign" "" "0000281797" "0" "10" "16" "29811319" "29811319" "subst" "0.974681" "02325" "KIF22_000007" "g.29811319C>T" "" "" "" "KIF22(NM_001256270.1):c.1026C>T (p.I342=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29799998C>T" "" "benign" "" "0000281798" "0" "10" "16" "29814234" "29814234" "subst" "0.974758" "02325" "KIF22_000008" "g.29814234G>A" "" "" "" "KIF22(NM_001256270.1):c.1221G>A (p.V407=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29802913G>A" "" "benign" "" "0000324692" "0" "50" "16" "29818332" "29818332" "subst" "0" "01804" "MAZ_000001" "g.29818332C>T" "" "" "" "MAZ(NM_001042539.1):c.226C>T (p.(Pro76Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29807011C>T" "" "VUS" "" "0000324695" "0" "50" "16" "29818533" "29818538" "del" "0" "01804" "MAZ_000004" "g.29818533_29818538del" "" "" "" "MAZ(NM_001042539.1):c.424_429del (p.(Ala144_Ala145del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29807212_29807217del" "" "VUS" "" "0000341952" "0" "90" "16" "29809965" "29809965" "subst" "0" "02327" "KIF22_000003" "g.29809965G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29798644G>A" "" "pathogenic" "" "0000342465" "0" "50" "16" "29810615" "29810615" "subst" "0.000117991" "02327" "KIF22_000009" "g.29810615C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29799294C>T" "" "VUS" "" "0000557800" "0" "10" "16" "29809684" "29809687" "del" "0" "02325" "KIF22_000011" "g.29809684_29809687del" "" "" "" "KIF22(NM_001256270.1):c.63-11_63-8delTCTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29798363_29798366del" "" "benign" "" "0000557801" "0" "30" "16" "29811268" "29811268" "subst" "4.06207E-6" "01804" "KIF22_000012" "g.29811268G>T" "" "" "" "KIF22(NM_001256269.1):c.975G>T (p.(Leu325Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29799947G>T" "" "likely benign" "" "0000557802" "0" "30" "16" "29816190" "29816190" "subst" "2.44541E-5" "02327" "KIF22_000013" "g.29816190T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29804869T>C" "" "likely benign" "" "0000557804" "0" "30" "16" "29818615" "29818615" "subst" "0" "01804" "PRRT2_000051" "g.29818615C>T" "" "" "" "MAZ(NM_001042539.1):c.509C>T (p.(Thr170Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29807294C>T" "" "likely benign" "" "0000557807" "0" "30" "16" "29821438" "29821452" "del" "0" "01804" "PRRT2_000054" "g.29821438_29821452del" "" "" "" "MAZ(NM_001042539.1):c.*46_*60del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29810117_29810131del" "" "likely benign" "" "0000615926" "0" "30" "16" "29814858" "29814858" "subst" "8.14041E-5" "01804" "KIF22_000015" "g.29814858G>A" "" "" "" "KIF22(NM_001256269.1):c.1334G>A (p.(Arg445Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29803537G>A" "" "likely benign" "" "0000692039" "0" "50" "16" "29816481" "29816481" "dup" "0" "01943" "KIF22_000016" "g.29816481dup" "" "" "" "KIF22(NM_001256270.1):c.1732dupG (p.E578Gfs*?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725732" "0" "50" "16" "29810009" "29810009" "subst" "4.46824E-5" "01804" "KIF22_000017" "g.29810009G>A" "" "" "" "KIF22(NM_001256269.1):c.286G>A (p.(Glu96Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725733" "0" "30" "16" "29811027" "29811027" "subst" "0.00869331" "01804" "KIF22_000018" "g.29811027T>A" "" "" "" "KIF22(NM_001256269.1):c.865T>A (p.(Ser289Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725734" "0" "30" "16" "29814262" "29814262" "subst" "0.00182865" "01804" "KIF22_000019" "g.29814262C>T" "" "" "" "KIF22(NM_001256269.1):c.1245+4C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000820998" "0" "70" "16" "28100001" "34600000" "del" "0" "00000" "CRYM_000000" "g.28100001_34600000del" "" "{PMID:Ruberto 2020:32507954}" "" "CGH array, microdeletion in 16p11.2" "zygosity not written; probable breakpoints; pathogenic in literature; genes ANKS4B,CRYM,NPIPB3,SMG1P3,RRN3P3,MIR3680-1,MIR3680-2,SLC7A5P2,LOC101927814,METTL9,IGSF6,OTOA,OTOAP1,RRN3P1,NPIPB4,NPIPB5,UQCRC2,PDZD9,MOSMO,VWA3A,EEF2K,POLR3E,CDR2,MFSD13B,HS3ST2,USP31,SCNN1G,SCNN1B,COG7,GGA2,EARS2,UBFD1,NDUFAB1,PALB2,DCTN5,PLK1,ERN2,CHP2" "Unknown" "?" "" "0" "" "" "g.28500001_35300000del" "" "likely pathogenic" "" "0000854468" "0" "50" "16" "29809983" "29809983" "subst" "4.06283E-6" "02325" "KIF22_000021" "g.29809983T>G" "" "" "" "KIF22(NM_007317.3):c.464T>G (p.L155R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864743" "0" "50" "16" "29802111" "29802111" "del" "2.28431E-5" "02327" "KIF22_000020" "g.29802111del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000881283" "0" "70" "16" "29816433" "29816433" "subst" "0" "02300" "KIF22_000022" "g.29816433C>G" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PS2, PM2, PP3" "De novo" "" "" "0" "" "" "g.29805112C>G" "" "likely pathogenic (dominant)" "ACMG" "0000926259" "0" "10" "16" "29808202" "29808204" "del" "0" "02329" "KIF22_000023" "g.29808202_29808204del" "" "" "" "KIF22(NM_007317.3):c.71-12_71-10delTCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000930588" "0" "30" "16" "29821509" "29821509" "subst" "0" "01804" "PRRT2_000064" "g.29821509G>T" "" "" "" "MAZ(NM_001042539.1):c.*134G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950634" "0" "30" "16" "29821441" "29821449" "del" "0" "01804" "PRRT2_000065" "g.29821441_29821449del" "" "" "" "MAZ(NM_001042539.1):c.*66_*74del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981827" "0" "30" "16" "29810603" "29810603" "subst" "1.22167E-5" "01804" "KIF22_000024" "g.29810603T>C" "" "" "" "KIF22(NM_007317.3):c.778T>C (p.(Leu260=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002189" "0" "50" "16" "29802142" "29802142" "subst" "0" "01804" "KIF22_000025" "g.29802142C>T" "" "" "" "KIF22(NM_007317.2):c.62C>T (p.(Ala21Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002190" "0" "30" "16" "29809718" "29809718" "subst" "2.03201E-5" "01804" "KIF22_000026" "g.29809718G>A" "" "" "" "KIF22(NM_007317.2):c.290G>A (p.(Arg97Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002191" "0" "30" "16" "29810594" "29810594" "subst" "1.22593E-5" "01804" "KIF22_000027" "g.29810594C>T" "" "" "" "KIF22(NM_007317.2):c.769C>T (p.(Arg257Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002192" "0" "50" "16" "29810669" "29810669" "subst" "0" "01804" "KIF22_000028" "g.29810669C>T" "" "" "" "KIF22(NM_007317.2):c.844C>T (p.(Arg282Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002193" "0" "30" "16" "29810971" "29810971" "subst" "8.13511E-6" "01804" "KIF22_000029" "g.29810971A>T" "" "" "" "KIF22(NM_007317.2):c.1013A>T (p.(His338Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002194" "0" "30" "16" "29811316" "29811316" "subst" "0" "01804" "KIF22_000030" "g.29811316G>C" "" "" "" "KIF22(NM_007317.2):c.1227G>C (p.(Glu409Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002195" "0" "30" "16" "29815342" "29815342" "subst" "1.21849E-5" "01804" "KIF22_000031" "g.29815342A>G" "" "" "" "KIF22(NM_007317.2):c.1633A>G (p.(Asn545Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002196" "0" "50" "16" "29816618" "29816618" "subst" "0" "01804" "KIF22_000032" "g.29816618G>A" "" "" "" "KIF22(NM_007317.2):c.1985G>A (p.(Cys662Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002197" "0" "50" "16" "29818506" "29818506" "subst" "0" "01804" "PRRT2_000066" "g.29818506C>T" "" "" "" "MAZ(NM_002383.3):c.400C>T (p.(Pro134Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026689" "0" "30" "16" "29821438" "29821452" "dup" "0" "02325" "PRRT2_000068" "g.29821438_29821452dup" "" "" "" "MAZ(NM_002383.4):c.1320_1334dupGGCGGCAGCGGCAGC (p.A444_A448dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041027" "0" "50" "16" "29802131" "29802142" "del" "0" "01804" "KIF22_000033" "g.29802131_29802142del" "" "" "" "KIF22(NM_007317.3):c.51_62del (p.(Ser18_Ala21del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041028" "0" "30" "16" "29810616" "29810616" "subst" "1.6271E-5" "01804" "KIF22_000034" "g.29810616G>A" "" "" "" "KIF22(NM_007317.3):c.791G>A (p.(Arg264His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041029" "0" "50" "16" "29814917" "29814917" "subst" "0" "01804" "KIF22_000035" "g.29814917C>T" "" "" "" "KIF22(NM_007317.3):c.1597C>T (p.(Pro533Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045323" "0" "90" "16" "29809962" "29809962" "subst" "0" "00006" "KIF22_000002" "g.29809962C>T" "" "{PMID:Ranza 2017:28229453}" "" "" "" "De novo" "" "" "0" "" "" "g.29798641C>T" "" "pathogenic (dominant)" "" "0001055507" "0" "30" "16" "29809964" "29809964" "subst" "5.68944E-5" "01804" "KIF22_000036" "g.29809964C>T" "" "" "" "KIF22(NM_007317.3):c.445C>T (p.(Arg149Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001055508" "0" "50" "16" "29810754" "29810754" "subst" "1.62615E-5" "01804" "KIF22_000037" "g.29810754C>T" "" "" "" "KIF22(NM_007317.3):c.929C>T (p.(Ala310Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055509" "0" "30" "16" "29816165" "29816167" "del" "0" "01804" "KIF22_000038" "g.29816165_29816167del" "" "" "" "KIF22(NM_007317.3):c.1708_1710del (p.(Glu570del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001066464" "0" "30" "16" "29809968" "29809968" "subst" "5.68842E-5" "01804" "chr16_007734" "g.29809968C>T" "" "" "" "KIF22(NM_007317.3):c.449C>T (p.(Ala150Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 KIF22 ## Count = 55 "{{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}}" "0000079295" "00024071" "00" "-195544" "0" "400991" "0" "c.-195544_*398993del" "r.0?" "p.0?" "" "0000079578" "00024071" "00" "-209299" "0" "442595" "0" "c.-209299_*440597dup" "" "" "" "0000079608" "00024071" "00" "-2618930" "0" "2074051" "0" "c.-2618930_*2072053dup" "" "" "" "0000132546" "00024071" "70" "664" "0" "664" "0" "c.664G>C" "r.(?)" "p.(Glu222Gln)" "5" "0000174364" "00024071" "97" "442" "0" "442" "0" "c.442C>T" "r.(?)" "p.(Pro148Ser)" "4" "0000174365" "00024071" "97" "442" "0" "442" "0" "c.442C>T" "r.(?)" "p.(Pro148Ser)" "4" "0000174366" "00024071" "97" "442" "0" "442" "0" "c.442C>T" "r.(?)" "p.(Pro148Ser)" "4" "0000174367" "00024071" "97" "443" "0" "443" "0" "c.443C>T" "r.(?)" "p.(Pro148Leu)" "4" "0000174368" "00024071" "97" "443" "0" "443" "0" "c.443C>T" "r.(?)" "p.(Pro148Leu)" "4" "0000174369" "00024071" "97" "446" "0" "446" "0" "c.446G>A" "r.(?)" "p.(Arg149Gln)" "4" "0000174370" "00024071" "97" "446" "0" "446" "0" "c.446G>A" "r.(?)" "p.(Arg149Gln)" "4" "0000174371" "00024071" "13" "695" "0" "695" "0" "c.695G>A" "r.(?)" "p.(Arg232Gln)" "4" "0000174372" "00024071" "13" "1677" "124" "1677" "124" "c.1677+124A>T" "r.(?)" "p.(=)" "4" "0000281797" "00024071" "10" "1230" "0" "1230" "0" "c.1230C>T" "r.(?)" "p.(Ile410=)" "" "0000281798" "00024071" "10" "1425" "0" "1425" "0" "c.1425G>A" "r.(?)" "p.(Val475=)" "" "0000324692" "00024071" "50" "3699" "0" "3699" "0" "c.*1701C>T" "r.(=)" "p.(=)" "" "0000324695" "00024071" "50" "3900" "0" "3905" "0" "c.*1902_*1907del" "r.(=)" "p.(=)" "" "0000341952" "00024071" "90" "446" "0" "446" "0" "c.446G>A" "r.(?)" "p.(Arg149Gln)" "" "0000342465" "00024071" "50" "790" "0" "790" "0" "c.790C>T" "r.(?)" "p.(Arg264Cys)" "" "0000557800" "00024071" "10" "267" "-11" "267" "-8" "c.267-11_267-8del" "r.(=)" "p.(=)" "" "0000557801" "00024071" "30" "1179" "0" "1179" "0" "c.1179G>T" "r.(?)" "p.(Leu393Phe)" "" "0000557802" "00024071" "30" "1733" "0" "1733" "0" "c.1733T>C" "r.(?)" "p.(Leu578Pro)" "" "0000557804" "00024071" "30" "3982" "0" "3982" "0" "c.*1984C>T" "r.(=)" "p.(=)" "" "0000557807" "00024071" "30" "6805" "0" "6819" "0" "c.*4807_*4821del" "r.(=)" "p.(=)" "" "0000615926" "00024071" "30" "1538" "0" "1538" "0" "c.1538G>A" "r.(?)" "p.(Arg513Gln)" "" "0000692039" "00024071" "50" "1936" "0" "1936" "0" "c.1936dup" "r.(?)" "p.(Glu646GlyfsTer?)" "" "0000725732" "00024071" "50" "490" "0" "490" "0" "c.490G>A" "r.(?)" "p.(Glu164Lys)" "" "0000725733" "00024071" "30" "1069" "0" "1069" "0" "c.1069T>A" "r.(?)" "p.(Ser357Thr)" "" "0000725734" "00024071" "30" "1449" "4" "1449" "4" "c.1449+4C>T" "r.spl?" "p.?" "" "0000820998" "00024071" "70" "-1702080" "0" "4785367" "0" "c.-1702080_*4783369del" "r.0?" "p.0?" "" "0000854468" "00024071" "50" "464" "0" "464" "0" "c.464T>G" "r.(?)" "p.(Leu155Arg)" "" "0000864743" "00024071" "50" "31" "0" "31" "0" "c.31del" "r.(?)" "p.(Arg11Aspfs*20)" "" "0000881283" "00024071" "70" "1891" "-3" "1891" "-3" "c.1891-3C>G" "r.spl" "p.?" "" "0000926259" "00024071" "10" "71" "-12" "71" "-10" "c.71-12_71-10del" "r.(=)" "p.(=)" "" "0000930588" "00024071" "30" "6876" "0" "6876" "0" "c.*4878G>T" "r.(=)" "p.(=)" "" "0000950634" "00024071" "30" "6808" "0" "6816" "0" "c.*4810_*4818del" "r.(=)" "p.(=)" "" "0000981827" "00024071" "30" "778" "0" "778" "0" "c.778T>C" "r.(?)" "p.(=)" "" "0001002189" "00024071" "50" "62" "0" "62" "0" "c.62C>T" "r.(?)" "p.(Ala21Val)" "" "0001002190" "00024071" "30" "290" "0" "290" "0" "c.290G>A" "r.(?)" "p.(Arg97Lys)" "" "0001002191" "00024071" "30" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257Trp)" "" "0001002192" "00024071" "50" "844" "0" "844" "0" "c.844C>T" "r.(?)" "p.(Arg282Trp)" "" "0001002193" "00024071" "30" "1013" "0" "1013" "0" "c.1013A>T" "r.(?)" "p.(His338Leu)" "" "0001002194" "00024071" "30" "1227" "0" "1227" "0" "c.1227G>C" "r.(?)" "p.(Glu409Asp)" "" "0001002195" "00024071" "30" "1633" "0" "1633" "0" "c.1633A>G" "r.(?)" "p.(Asn545Asp)" "" "0001002196" "00024071" "50" "1985" "0" "1985" "0" "c.1985G>A" "r.(?)" "p.(Cys662Tyr)" "" "0001002197" "00024071" "50" "3873" "0" "3873" "0" "c.*1875C>T" "r.(=)" "p.(=)" "" "0001026689" "00024071" "30" "6805" "0" "6819" "0" "c.*4807_*4821dup" "r.(=)" "p.(=)" "" "0001041027" "00024071" "50" "51" "0" "62" "0" "c.51_62del" "r.(?)" "p.(Ser18_Ala21del)" "" "0001041028" "00024071" "30" "791" "0" "791" "0" "c.791G>A" "r.(?)" "p.(Arg264His)" "" "0001041029" "00024071" "50" "1597" "0" "1597" "0" "c.1597C>T" "r.(?)" "p.(Pro533Ser)" "" "0001045323" "00024071" "90" "443" "0" "443" "0" "c.443C>T" "r.(?)" "p.(Pro148Leu)" "" "0001055507" "00024071" "30" "445" "0" "445" "0" "c.445C>T" "r.(?)" "p.(Arg149Trp)" "" "0001055508" "00024071" "50" "929" "0" "929" "0" "c.929C>T" "r.(?)" "p.(Ala310Val)" "" "0001055509" "00024071" "30" "1708" "0" "1710" "0" "c.1708_1710del" "r.(?)" "p.(Glu570del)" "" "0001066464" "00024071" "30" "449" "0" "449" "0" "c.449C>T" "r.(?)" "p.(Ala150Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{variantid}}" "0000050315" "0000079295" "0000050598" "0000079578" "0000050628" "0000079608" "0000081870" "0000132546" "0000108412" "0000174364" "0000108413" "0000174365" "0000108414" "0000174366" "0000108415" "0000174367" "0000108415" "0000174372" "0000108416" "0000174368" "0000108417" "0000174369" "0000108418" "0000174370" "0000108418" "0000174371" "0000391266" "0000820998" "0000420924" "0000881283" "0000467511" "0001045323"