### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = CARKD)
# 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}}"
"CARKD" "carbohydrate kinase domain containing" "13" "q34" "unknown" "NC_000013.10" "UD_132465502520" "" "https://www.LOVD.nl/NAXD" "" "1" "25576" "55739" "615910" "1" "1" "1" "1" "NOTE: gene name changed from CARKD to NAXD\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/CARKD_codingDNA.html" "1" "" "NOTE: gene name changed from CARKD to NAXD" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-12-29 10:56:24" "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}}"
"00004362" "CARKD" "transcript variant 1" "005" "NM_018210.3" "" "NP_060680.2" "" "" "" "-91" "2648" "1173" "111267931" "111292343" "" "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}}"
"05885" "PEBEL2" "encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, type 2 (PEBEL2)" "AR" "618321" "" "" "" "00006" "2020-12-29 10:53:27" "" ""
"05886" "PEBEL" "encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy (PEBEL)" "" "" "" "" "" "00006" "2020-12-29 10:54:33" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}" "{{diseaseid}}"
"CARKD" "05885"
"CARKD" "05886"
## Individuals ## Do not remove or alter this header ##
## Count = 1
"{{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}}"
"00314930" "" "" "" "1" "" "03219" "" "" "F" "yes" "India" "03y" "0" "" "" "" ""
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{individualid}}" "{{diseaseid}}"
"00314930" "05886"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 05885, 05886
## Count = 0
## Screenings ## Do not remove or alter this header ##
## Count = 1
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000316104" "00314930" "1" "03219" "03219" "2020-10-21 08:55:48" "" "" "SEQ-NG-I" "DNA" "" ""
## 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 = 19
"{{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}}"
"0000272626" "0" "50" "13" "111287067" "111287067" "subst" "0.00107287" "01943" "CARKD_000001" "g.111287067C>T" "" "" "" "CARKD(NM_018210.3):c.595C>T (p.R199W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110634720C>T" "" "VUS" ""
"0000302886" "0" "30" "13" "111287925" "111287925" "subst" "0.00105277" "01943" "CARKD_000005" "g.111287925C>T" "" "" "" "NAXD(NM_018210.3):c.762C>T (p.N254=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110635578C>T" "" "likely benign" ""
"0000323546" "0" "50" "13" "111287117" "111287117" "subst" "0.000411778" "01804" "CARKD_000002" "g.111287117C>G" "" "" "" "CARKD(NM_001242881.1):c.645C>G (p.(Asp215Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110634770C>G" "" "VUS" ""
"0000323547" "0" "50" "13" "111287871" "111287871" "subst" "0.000418318" "01804" "CARKD_000003" "g.111287871A>C" "" "" "" "CARKD(NM_001242881.1):c.708A>C (p.(Gln236His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110635524A>C" "" "VUS" ""
"0000549838" "0" "30" "13" "111293898" "111293898" "subst" "0.00125069" "01804" "CARKD_000006" "g.111293898T>C" "" "" "" "CARS2(NM_024537.2):c.1681A>G (p.(Lys561Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110641551T>C" "" "likely benign" ""
"0000549839" "0" "50" "13" "111293929" "111293929" "subst" "8.12163E-6" "02327" "CARKD_000007" "g.111293929C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110641582C>T" "" "VUS" ""
"0000549840" "0" "30" "13" "111293947" "111293947" "subst" "0.000625457" "01804" "CARKD_000008" "g.111293947G>T" "" "" "" "CARS2(NM_024537.2):c.1632C>A (p.(Ser544Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110641600G>T" "" "likely benign" ""
"0000549841" "0" "30" "13" "111294796" "111294796" "subst" "0.000766989" "01804" "CARKD_000009" "g.111294796C>T" "" "" "" "CARS2(NM_024537.2):c.1489G>A (p.(Val497Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110642449C>T" "" "likely benign" ""
"0000698244" "3" "70" "13" "111277540" "111277540" "subst" "1.62807E-5" "03219" "CARKD_000011" "g.111277540G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.110625193G>A" "" "VUS" "ACMG"
"0000863222" "0" "30" "13" "111279844" "111279844" "subst" "0.0209015" "01804" "CARKD_000012" "g.111279844G>A" "" "" "" "CARKD(NM_001242881.1):c.445G>A (p.(Val149Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000890889" "0" "50" "13" "111293900" "111293900" "dup" "0" "02325" "CARKD_000013" "g.111293900dup" "" "" "" "CARS2(NM_024537.4):c.1683dupA (p.S562Ifs*36)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000967154" "0" "70" "13" "111294805" "111294805" "subst" "0" "02325" "CARKD_000014" "g.111294805G>A" "" "" "" "CARS2(NM_024537.4):c.1480C>T (p.R494W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000980567" "0" "50" "13" "111279896" "111279896" "subst" "0" "01804" "CARKD_000015" "g.111279896T>C" "" "" "" "NAXD(NM_001242882.2):c.441+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000980568" "0" "50" "13" "111287888" "111287888" "subst" "0.000134029" "01804" "CARKD_000016" "g.111287888C>T" "" "" "" "CARKD(NM_001242881.1):c.725C>T (p.(Thr242Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001000436" "0" "50" "13" "111277612" "111277612" "subst" "0.00015458" "01804" "CARKD_000017" "g.111277612G>A" "" "" "" "CARKD(NM_001242881.1):c.373G>A (p.(Val125Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001039578" "0" "50" "13" "111268119" "111268119" "subst" "0.000291436" "01804" "CARKD_000018" "g.111268119C>T" "" "" "" "NAXD(NM_001242881.2):c.98C>T (p.(Ala33Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001039579" "0" "50" "13" "111289506" "111289506" "subst" "6.09925E-5" "01804" "CARKD_000019" "g.111289506G>A" "" "" "" "NAXD(NM_001242882.2):c.749G>A (p.(Arg250His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001039580" "0" "50" "13" "111294837" "111294837" "subst" "0.000432805" "01804" "CARS2_000006" "g.111294837A>C" "" "" "" "CARS2(NM_024537.4):c.1448T>G (p.(Leu483Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001039581" "0" "30" "13" "111296727" "111296727" "subst" "5.28125E-5" "01804" "CARKD_000020" "g.111296727C>T" "" "" "" "CARS2(NM_024537.4):c.1416+5G>A" "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 CARKD
## Count = 19
"{{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}}"
"0000272626" "00004362" "50" "595" "0" "595" "0" "c.595C>T" "r.(?)" "p.(Arg199Trp)" ""
"0000302886" "00004362" "30" "762" "0" "762" "0" "c.762C>T" "r.(?)" "p.(Asn254=)" ""
"0000323546" "00004362" "50" "645" "0" "645" "0" "c.645C>G" "r.(?)" "p.(Asp215Glu)" ""
"0000323547" "00004362" "50" "708" "0" "708" "0" "c.708A>C" "r.(?)" "p.(Gln236His)" ""
"0000549838" "00004362" "30" "4203" "0" "4203" "0" "c.*3030T>C" "r.(=)" "p.(=)" ""
"0000549839" "00004362" "50" "4234" "0" "4234" "0" "c.*3061C>T" "r.(=)" "p.(=)" ""
"0000549840" "00004362" "30" "4252" "0" "4252" "0" "c.*3079G>T" "r.(=)" "p.(=)" ""
"0000549841" "00004362" "30" "5101" "0" "5101" "0" "c.*3928C>T" "r.(=)" "p.(=)" ""
"0000698244" "00004362" "70" "301" "0" "301" "0" "c.301G>A" "r.(?)" "p.(Ala101Thr)" "4"
"0000863222" "00004362" "30" "445" "0" "445" "0" "c.445G>A" "r.(?)" "p.(Val149Ile)" ""
"0000890889" "00004362" "50" "4205" "0" "4205" "0" "c.*3032dup" "r.(?)" "p.(=)" ""
"0000967154" "00004362" "70" "5110" "0" "5110" "0" "c.*3937G>A" "r.(=)" "p.(=)" ""
"0000980567" "00004362" "50" "495" "2" "495" "2" "c.495+2T>C" "r.spl?" "p.?" ""
"0000980568" "00004362" "50" "725" "0" "725" "0" "c.725C>T" "r.(?)" "p.(Thr242Met)" ""
"0001000436" "00004362" "50" "373" "0" "373" "0" "c.373G>A" "r.(?)" "p.(Val125Ile)" ""
"0001039578" "00004362" "50" "98" "0" "98" "0" "c.98C>T" "r.(?)" "p.(Ala33Val)" ""
"0001039579" "00004362" "50" "803" "0" "803" "0" "c.803G>A" "r.(?)" "p.(Arg268His)" ""
"0001039580" "00004362" "50" "5142" "0" "5142" "0" "c.*3969A>C" "r.(=)" "p.(=)" ""
"0001039581" "00004362" "30" "7032" "0" "7032" "0" "c.*5859C>T" "r.(=)" "p.(=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}" "{{variantid}}"
"0000316104" "0000698244"