### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = ICK)
# 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}}"
"ICK" "intestinal cell (MAK-like) kinase" "6" "p12.3-p11.2" "unknown" "NC_000006.11" "UD_132118930188" "" "https://www.LOVD.nl/CILK1" "" "1" "21219" "22858" "612325" "1" "1" "1" "1" "NOTE: gene name changed from ICK to CILK1\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "NOTE: gene name changed from ICK to CILK1" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-12-13 13:38:33" "00000" "2025-05-05 21:14:00"
## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00009771" "ICK" "transcript variant 2" "002" "NM_016513.4" "" "NP_057597.2" "" "" "" "-490" "5748" "1899" "52926600" "52866098" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 2
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"03173" "ECO" "Endocrine-cerebroosteodysplasia" "AR" "612651" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"06710" "EJM10" "{Epilepsy, juvenile myoclonic, susceptibility to, 10}" "AD" "617924" "" "" "" "00006" "2021-12-10 23:20:41" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}" "{{diseaseid}}"
"ICK" "03173"
"ICK" "06710"
## Individuals ## Do not remove or alter this header ##
## Count = 0
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 0
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 03173, 06710
## Count = 0
## Screenings ## Do not remove or alter this header ##
## Count = 0
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 0
## 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 = 13
"{{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}}"
"0000331074" "0" "50" "6" "52935905" "52935907" "del" "0" "01804" "FBXO9_000001" "g.52935905_52935907del" "" "" "" "FBXO9(NM_012347.4):c.76_78del (p.(Asp26del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53071107_53071109del" "" "VUS" ""
"0000529127" "0" "30" "6" "52878497" "52878508" "del" "0" "01943" "ICK_000001" "g.52878497_52878508del" "" "" "" "ICK(NM_014920.3):c.1106_1117del (p.(Pro369_Leu372del)), ICK(NM_016513.4):c.1106_1117delCAAGCCCGTTGC (p.P369_L372del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53013699_53013710del" "" "likely benign" ""
"0000610390" "0" "30" "6" "52871155" "52871155" "subst" "0.000142191" "01804" "ICK_000002" "g.52871155T>C" "" "" "" "ICK(NM_014920.3):c.1702A>G (p.(Met568Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53006357T>C" "" "likely benign" ""
"0000677810" "0" "10" "6" "52878497" "52878508" "del" "0" "01804" "ICK_000001" "g.52878497_52878508del" "" "" "" "ICK(NM_014920.3):c.1106_1117del (p.(Pro369_Leu372del)), ICK(NM_016513.4):c.1106_1117delCAAGCCCGTTGC (p.P369_L372del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000802639" "0" "50" "6" "52895863" "52895863" "subst" "8.13127E-6" "01943" "ICK_000003" "g.52895863C>T" "" "" "" "ICK(NM_016513.4):c.358G>A (p.G120S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000860445" "0" "30" "6" "52880879" "52880879" "del" "0" "02326" "ICK_000004" "g.52880879del" "" "" "" "CILK1(NM_016513.4):c.831+5delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000860446" "0" "30" "6" "52881022" "52881022" "subst" "0.00244759" "02326" "ICK_000005" "g.52881022A>G" "" "" "" "CILK1(NM_016513.4):c.690T>C (p.L230=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000887343" "0" "50" "6" "52878582" "52878582" "subst" "0" "02329" "ICK_000006" "g.52878582G>T" "" "" "" "CILK1(NM_016513.5):c.1030C>A (p.P344T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000887344" "0" "30" "6" "52878728" "52878728" "subst" "0.000195238" "02326" "ICK_000007" "g.52878728T>C" "" "" "" "CILK1(NM_016513.4):c.884A>G (p.Q295R), ICK(NM_014920.3):c.884A>G (p.(Gln295Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000948720" "0" "30" "6" "52878728" "52878728" "subst" "0.000195238" "01804" "ICK_000007" "g.52878728T>C" "" "" "" "CILK1(NM_016513.4):c.884A>G (p.Q295R), ICK(NM_014920.3):c.884A>G (p.(Gln295Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000995816" "0" "30" "6" "52876944" "52876944" "subst" "0" "01804" "ICK_000008" "g.52876944T>C" "" "" "" "ICK(NM_014920.3):c.1234A>G (p.(Thr412Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001035844" "0" "30" "6" "52878605" "52878605" "subst" "0.000109662" "01804" "ICK_000009" "g.52878605C>T" "" "" "" "ICK(NM_014920.5):c.1007G>A (p.(Arg336Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001035845" "0" "50" "6" "52884145" "52884145" "subst" "4.06699E-6" "01804" "ICK_000010" "g.52884145C>T" "" "" "" "ICK(NM_014920.5):c.371G>A (p.(Arg124Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
## 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 ICK
## Count = 13
"{{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}}"
"0000331074" "00009771" "50" "-9789" "0" "-9787" "0" "c.-9789_-9787del" "r.(?)" "p.(=)" ""
"0000529127" "00009771" "30" "1106" "0" "1117" "0" "c.1106_1117del" "r.(?)" "p.(Pro369_Leu372del)" ""
"0000610390" "00009771" "30" "1702" "0" "1702" "0" "c.1702A>G" "r.(?)" "p.(Met568Val)" ""
"0000677810" "00009771" "10" "1106" "0" "1117" "0" "c.1106_1117del" "r.(?)" "p.(Pro369_Leu372del)" ""
"0000802639" "00009771" "50" "358" "0" "358" "0" "c.358G>A" "r.(?)" "p.(Gly120Ser)" ""
"0000860445" "00009771" "30" "831" "5" "831" "5" "c.831+5del" "r.spl?" "p.?" ""
"0000860446" "00009771" "30" "690" "0" "690" "0" "c.690T>C" "r.(?)" "p.(Leu230=)" ""
"0000887343" "00009771" "50" "1030" "0" "1030" "0" "c.1030C>A" "r.(?)" "p.(Pro344Thr)" ""
"0000887344" "00009771" "30" "884" "0" "884" "0" "c.884A>G" "r.(?)" "p.(Gln295Arg)" ""
"0000948720" "00009771" "30" "884" "0" "884" "0" "c.884A>G" "r.(?)" "p.(Gln295Arg)" ""
"0000995816" "00009771" "30" "1234" "0" "1234" "0" "c.1234A>G" "r.(?)" "p.(Thr412Ala)" ""
"0001035844" "00009771" "30" "1007" "0" "1007" "0" "c.1007G>A" "r.(?)" "p.(Arg336Gln)" ""
"0001035845" "00009771" "50" "371" "0" "371" "0" "c.371G>A" "r.(?)" "p.(Arg124Gln)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 0