### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GALK1) # 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}}" "GALK1" "galactokinase 1" "17" "q25.1" "unknown" "NG_008079.1" "UD_132118695572" "" "https://www.LOVD.nl/GALK1" "" "1" "4118" "2584" "604313" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/GALK1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-08-09 11:02:56" "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}}" "00008316" "GALK1" "galactokinase 1" "001" "NM_000154.1" "" "NP_000145.1" "" "" "" "-63" "1298" "1179" "73761280" "73754018" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00296" "CTRCT" "cataract (CTRCT)" "" "" "" "" "" "00006" "2014-01-16 08:42:13" "00006" "2015-03-07 14:30:33" "01798" "GALAC2" "galactokinase deficiency, cataract" "AR" "230200" "" "" "" "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}}" "GALK1" "01798" ## Individuals ## Do not remove or alter this header ## ## Count = 11 "{{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}}" "00260866" "" "" "" "4" "" "00006" "{PMID:Chen 2017:28418495}" "5-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents/relatives" "F;M" "" "" "" "0" "" "" "" "Fam60248" "00260867" "" "" "" "6" "" "00006" "{PMID:Chen 2017:28418495}" "5-generation family, 6 affected (3F, 3M), unaffected heterozygous carrier parents/relatives" "F;M" "" "" "" "0" "" "" "" "Fam60133" "00308753" "" "" "" "1" "" "00004" "{PMID:Le 2019:31180159}" "analysis 305 unrelated individuals" "" "" "Viet Nam" "" "0" "" "" "" "" "00327547" "" "" "" "5" "" "00006" "{PMID:Beck 2014:25044745}" "2-generation family, 5 affected (2F, 3M)" "F;M" "yes" "Iraq" "" "0" "" "" "" "family" "00385453" "" "" "" "1" "" "00000" "{PMID:Lenassi 2020:31848469}" "retrospective analysis" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "12003591" "00385547" "" "" "" "1" "" "00000" "{PMID:Lenassi 2020:31848469}" "retrospective analysis" "F" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "18018483" "00416989" "" "" "" "1" "" "01164" "" "" "M" "yes" "Iraq" "" "0" "" "" "Arabian" "204591" "00434091" "" "" "" "1" "" "00006" "{PMID:Li 2016:27307692}" "" "" "" "China" "" "0" "" "" "" "patients" "00434092" "" "" "" "1" "" "00006" "{PMID:Li 2016:27307692}" "" "" "" "China" "" "0" "" "" "" "patients" "00434093" "" "" "" "1" "" "00006" "{PMID:Li 2016:27307692}" "" "" "" "China" "" "0" "" "" "" "patients" "00451649" "" "" "" "1" "" "04221" "{PMID:Vela-Amieva 2024:39519275}" "" "M" "no" "Mexico" "" "" "" "" "Mexican" "3bINP-089" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00260866" "00296" "00260867" "00296" "00308753" "00000" "00327547" "04214" "00385453" "04214" "00385547" "04214" "00416989" "01798" "00434091" "00296" "00434092" "00296" "00434093" "00296" "00451649" "01798" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00296, 01798, 04214 ## Count = 7 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000199398" "00296" "00260866" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "congenital cataract" "0000199399" "00296" "00260867" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "congenital cataract" "0000245811" "04214" "00327547" "00006" "Familial, autosomal recessive" "" "see paper; ..., Leber congenital amaurosis , Joubert syndrome, polycystic kidney disease" "" "" "" "" "" "" "" "" "" "0000279248" "04214" "00385453" "00000" "Familial, autosomal recessive" "" "" "2y" "" "" "" "" "" "" "" "congenital cataracts; developmental delay; microcephaly; hypospadias" "0000279342" "04214" "00385547" "00000" "Familial, autosomal recessive" "" "" "2y" "" "" "" "" "" "" "" "congenital cataract; developmental delay; lumbar spine skin dimple" "0000308500" "01798" "00416989" "01164" "Familial, autosomal recessive" "00y06m" "Megalencephaly, Leukoencephalopathy, Cataract, Hypergalactosemia, Elevated circulating alkaline phosphatase concentration" "" "" "" "" "" "" "" "" "" "0000340310" "01798" "00451649" "04221" "Familial, autosomal recessive" "" "" "" "00y01m" "" "" "" "" "" "Galactokinase deficiency with cataracts" "Galactosemia" ## Screenings ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000261970" "00260866" "1" "00006" "00006" "2019-08-09 10:06:50" "" "" "SEQ" "DNA" "" "" "0000261971" "00260867" "1" "00006" "00006" "2019-08-09 10:06:50" "" "" "SEQ" "DNA" "" "" "0000309898" "00308753" "1" "00004" "00006" "2020-08-27 15:56:29" "" "" "SEQ;SEQ-NG" "DNA" "" "105 WGS/200 WES" "0000328762" "00327547" "1" "00006" "00006" "2021-01-23 14:41:55" "" "" "SEQ-NG" "DNA" "" "WES" "0000386682" "00385453" "1" "00000" "03840" "2021-10-12 17:40:23" "" "" "SEQ-NG" "DNA" "blood" "114 genes panel tested" "0000386776" "00385547" "1" "00000" "03840" "2021-10-12 17:40:23" "" "" "SEQ-NG" "DNA" "blood" "144 genes panel tested" "0000418272" "00416989" "1" "01164" "01164" "2022-09-12 14:54:27" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000435558" "00434091" "1" "00006" "00006" "2023-03-19 16:52:56" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000435559" "00434092" "1" "00006" "00006" "2023-03-19 16:52:56" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000435560" "00434093" "1" "00006" "00006" "2023-03-19 16:52:56" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000453253" "00451649" "1" "04221" "04221" "2024-06-20 21:20:39" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{geneid}}" "0000261970" "GALK1" "0000261971" "GALK1" "0000309898" "GALK1" "0000386682" "GALK1" "0000386776" "GALK1" "0000418272" "GALK1" "0000453253" "GALK1" ## 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 = 66 "{{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}}" "0000249571" "0" "30" "17" "73753266" "73753266" "subst" "0.00440399" "02325" "ITGB4_000026" "g.73753266A>G" "" "" "" "ITGB4(NM_000213.5):c.5219-15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75757185A>G" "" "likely benign" "" "0000249572" "0" "30" "17" "73753266" "73753266" "subst" "0.00195733" "02325" "ITGB4_000027" "g.73753266A>T" "" "" "" "ITGB4(NM_000213.5):c.5219-15A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75757185A>T" "" "likely benign" "" "0000249573" "0" "30" "17" "73753651" "73753651" "subst" "0" "02325" "ITGB4_000029" "g.73753651A>C" "" "" "" "ITGB4(NM_000213.5):c.*15A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75757570A>C" "" "likely benign" "" "0000281596" "0" "10" "17" "73750859" "73750859" "subst" "0.455836" "02325" "ITGB4_000019" "g.73750859C>G" "" "" "" "ITGB4(NM_000213.5):c.4521C>G (p.P1507=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75754778C>G" "" "benign" "" "0000281597" "0" "10" "17" "73751778" "73751778" "subst" "0.00351707" "02325" "ITGB4_000020" "g.73751778C>G" "" "" "" "ITGB4(NM_000213.5):c.4559-4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75755697C>G" "" "benign" "" "0000281598" "0" "90" "17" "73751797" "73751798" "del" "0" "02325" "ITGB4_000021" "g.73751797_73751798del" "" "" "" "ITGB4(NM_000213.5):c.4574_4575delCT (p.A1525Gfs*46)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75755716_75755717del" "" "pathogenic" "" "0000281599" "0" "30" "17" "73753042" "73753042" "subst" "4.08303E-5" "02325" "ITGB4_000024" "g.73753042G>A" "" "" "" "ITGB4(NM_000213.5):c.5072G>A (p.R1691Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75756961G>A" "" "likely benign" "" "0000281600" "0" "90" "17" "73753190" "73753190" "subst" "8.13663E-6" "02325" "ITGB4_000025" "g.73753190T>C" "" "" "" "ITGB4(NM_000213.5):c.5218+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75757109T>C" "" "pathogenic" "" "0000281601" "0" "10" "17" "73753503" "73753503" "subst" "0.726301" "02325" "ITGB4_000028" "g.73753503T>C" "" "" "" "ITGB4(NM_000213.5):c.5336T>C (p.L1779P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75757422T>C" "" "benign" "" "0000288173" "0" "30" "17" "73754197" "73754197" "subst" "0.00214815" "01943" "GALK1_000001" "g.73754197G>A" "" "" "" "GALK1(NM_000154.1):c.1119C>T (p.G373=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75758116G>A" "" "likely benign" "" "0000288174" "0" "30" "17" "73759132" "73759132" "subst" "8.15009E-6" "01943" "GALK1_000007" "g.73759132T>A" "" "" "" "GALK1(NM_000154.1):c.574A>T (p.M192L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75763051T>A" "" "likely benign" "" "0000288175" "0" "30" "17" "73759091" "73759091" "subst" "0" "01943" "GALK1_000006" "g.73759091C>A" "" "" "" "GALK1(NM_000154.1):c.611+4G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75763010C>A" "" "likely benign" "" "0000288176" "0" "30" "17" "73758831" "73758831" "subst" "0.000341447" "01943" "GALK1_000005" "g.73758831C>T" "" "" "" "GALK1(NM_000154.1):c.747G>A (p.A249=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75762750C>T" "" "likely benign" "" "0000288177" "0" "30" "17" "73758830" "73758830" "subst" "0" "01943" "GALK1_000004" "g.73758830G>A" "" "" "" "GALK1(NM_000154.1):c.748C>T (p.L250=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75762749G>A" "" "likely benign" "" "0000288178" "0" "10" "17" "73754634" "73754634" "subst" "0.00298189" "01943" "GALK1_000003" "g.73754634G>A" "" "" "" "GALK1(NM_000154.1):c.840C>T (p.H280=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75758553G>A" "" "benign" "" "0000288179" "0" "30" "17" "73754411" "73754411" "subst" "0.000572552" "01943" "GALK1_000002" "g.73754411C>T" "" "" "" "GALK1(NM_000154.1):c.987G>A (p.V329=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75758330C>T" "" "likely benign" "" "0000289773" "0" "50" "17" "73749905" "73749905" "subst" "0" "01943" "ITGB4_000018" "g.73749905T>C" "" "" "" "ITGB4(NM_000213.4):c.4168T>C (p.W1390R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75753824T>C" "" "VUS" "" "0000289774" "0" "30" "17" "73751882" "73751882" "subst" "0.000284677" "01943" "ITGB4_000022" "g.73751882C>T" "" "" "" "ITGB4(NM_000213.4):c.4659C>T (p.C1553=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75755801C>T" "" "likely benign" "" "0000289775" "0" "50" "17" "73752687" "73752687" "subst" "4.88826E-5" "01943" "ITGB4_000023" "g.73752687G>A" "" "" "" "ITGB4(NM_000213.4):c.4886G>A (p.C1629Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75756606G>A" "" "VUS" "" "0000346034" "0" "50" "17" "73761111" "73761111" "subst" "0" "02327" "GALK1_000009" "g.73761111C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75765030C>T" "" "VUS" "" "0000346071" "0" "50" "17" "73761094" "73761094" "subst" "1.27424E-5" "02327" "GALK1_000008" "g.73761094C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75765013C>T" "" "VUS" "" "0000563079" "0" "30" "17" "73750768" "73750768" "subst" "8.12374E-6" "01943" "ITGB4_000045" "g.73750768T>C" "" "" "" "ITGB4(NM_000213.4):c.4430T>C (p.V1477A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75754687T>C" "" "likely benign" "" "0000563080" "0" "30" "17" "73750774" "73750774" "subst" "8.12361E-6" "01943" "ITGB4_000046" "g.73750774A>G" "" "" "" "ITGB4(NM_000213.4):c.4436A>G (p.H1479R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75754693A>G" "" "likely benign" "" "0000563081" "0" "30" "17" "73750847" "73750847" "subst" "0.00263981" "02325" "ITGB4_000047" "g.73750847G>A" "" "" "" "ITGB4(NM_000213.5):c.4509G>A (p.S1503=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75754766G>A" "" "likely benign" "" "0000563082" "0" "30" "17" "73752819" "73752819" "subst" "3.25722E-5" "01943" "ITGB4_000048" "g.73752819A>G" "" "" "" "ITGB4(NM_000213.4):c.4932A>G (p.P1644=), ITGB4(NM_000213.5):c.4932A>G (p.P1644=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75756738A>G" "" "likely benign" "" "0000563083" "0" "30" "17" "73753142" "73753142" "subst" "0.000447482" "01943" "ITGB4_000049" "g.73753142C>T" "" "" "" "ITGB4(NM_000213.4):c.5172C>T (p.F1724=), ITGB4(NM_000213.5):c.5172C>T (p.F1724=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75757061C>T" "" "likely benign" "" "0000563085" "0" "30" "17" "73759429" "73759429" "subst" "0.000134433" "01943" "GALK1_000011" "g.73759429C>T" "" "" "" "GALK1(NM_000154.1):c.447G>A (p.T149=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75763348C>T" "" "likely benign" "" "0000592099" "3" "90" "17" "73758812" "73758812" "subst" "0.000199258" "00006" "GALK1_000013" "g.73758812G>A" "" "{PMID:Chen 2017:28418495}" "" "" "" "Germline" "yes" "" "0" "" "" "g.75762731G>A" "" "pathogenic (recessive)" "" "0000592100" "3" "90" "17" "73754331" "73754331" "subst" "0" "00006" "GALK1_000014" "g.73754331A>G" "" "{PMID:Chen 2017:28418495}" "" "" "" "Germline" "yes" "" "0" "" "" "g.75758250A>G" "" "pathogenic (recessive)" "" "0000616818" "0" "90" "17" "73751243" "73751243" "subst" "3.67866E-5" "02325" "ITGB4_000052" "g.73751243C>T" "" "" "" "ITGB4(NM_001005619.1):c.4456C>T (p.R1486*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75755162C>T" "" "pathogenic" "" "0000616819" "0" "50" "17" "73759512" "73759512" "subst" "3.65681E-5" "01943" "GALK1_000015" "g.73759512G>A" "" "" "" "GALK1(NM_000154.1):c.364C>T (p.L122F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75763431G>A" "" "VUS" "" "0000658247" "0" "50" "17" "73753337" "73753337" "subst" "1.22582E-5" "02325" "ITGB4_000055" "g.73753337G>T" "" "" "" "ITGB4(NM_000213.5):c.5275G>T (p.E1759*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75757256G>T" "" "VUS" "" "0000681023" "0" "50" "17" "73754639" "73754639" "subst" "0.000110468" "01943" "ITGB4_000060" "g.73754639G>A" "" "" "" "GALK1(NM_000154.1):c.835C>T (p.R279W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000684800" "0" "30" "17" "73761239" "73761239" "subst" "0.000484193" "00004" "GALK1_000016" "g.73761239A>G" "frequency 0.017" "{PMID:Le 2019:31180159}" "" "" "classification based on frequency in 305 unrelated individuals" "Germline" "" "" "0" "" "" "g.75765158A>G" "" "likely benign" "" "0000692468" "0" "50" "17" "73758812" "73758812" "subst" "0.000199258" "01943" "GALK1_000013" "g.73758812G>A" "" "" "" "GALK1(NM_000154.1):c.766C>T (p.R256W), GALK1(NM_000154.2):c.766C>T (p.(Arg256Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000712811" "3" "50" "17" "73758896" "73758896" "subst" "1.62599E-5" "00000" "GALK1_000017" "g.73758896G>A" "" "{PMID:Beck 2014:25044745}" "" "" "" "Germline" "" "" "0" "" "" "g.75762815G>A" "" "VUS" "" "0000726677" "0" "50" "17" "73758843" "73758843" "subst" "1.21902E-5" "01943" "ITGB4_000065" "g.73758843T>A" "" "" "" "GALK1(NM_000154.1):c.735A>T (p.E245D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808256" "0" "50" "17" "73753138" "73753138" "subst" "0" "01943" "ITGB4_000068" "g.73753138G>C" "" "" "" "ITGB4(NM_000213.4):c.5168G>C (p.G1723A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808257" "0" "50" "17" "73761186" "73761186" "subst" "1.59947E-5" "01943" "GALK1_000018" "g.73761186T>A" "" "" "" "GALK1(NM_000154.1):c.32A>T (p.E11V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000814362" "0" "70" "17" "73754401" "73754401" "subst" "0" "00000" "GALK1_000020" "g.73754401G>A" "" "{PMID:Lenassi 2020:31848469}" "" "GALK1 c.997C>T p.(Leu333Trp) het" "single heterozygous variant in a recessive gene" "Germline" "?" "" "0" "" "" "g.75758320G>A" "" "likely pathogenic" "ACMG" "0000814456" "3" "50" "17" "73754400" "73754400" "subst" "0" "00000" "GALK1_000019" "g.73754400A>G" "" "{PMID:Lenassi 2020:31848469}" "" "GALK1 c.998T>C p.(Leu333Pro) hom" "homozygous" "Germline" "?" "" "0" "" "" "g.75758319A>G" "" "VUS" "ACMG" "0000855102" "0" "10" "17" "73751778" "73751778" "subst" "0.00351707" "02326" "ITGB4_000020" "g.73751778C>G" "" "" "" "ITGB4(NM_000213.5):c.4559-4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000855103" "0" "30" "17" "73753142" "73753142" "subst" "0.000447482" "02326" "ITGB4_000049" "g.73753142C>T" "" "" "" "ITGB4(NM_000213.4):c.5172C>T (p.F1724=), ITGB4(NM_000213.5):c.5172C>T (p.F1724=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855104" "0" "30" "17" "73753534" "73753534" "subst" "0.00101366" "02326" "ITGB4_000081" "g.73753534C>T" "" "" "" "ITGB4(NM_000213.5):c.5367C>T (p.G1789=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865497" "0" "30" "17" "73752819" "73752819" "subst" "3.25722E-5" "02326" "ITGB4_000048" "g.73752819A>G" "" "" "" "ITGB4(NM_000213.4):c.4932A>G (p.P1644=), ITGB4(NM_000213.5):c.4932A>G (p.P1644=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865498" "0" "30" "17" "73754450" "73754450" "subst" "0" "01943" "ITGB4_000082" "g.73754450G>A" "" "" "" "GALK1(NM_000154.1):c.948C>T (p.D316=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000878024" "3" "70" "17" "73761069" "73761069" "subst" "0" "01164" "GALK1_000021" "g.73761069C>T" "" "" "" "" "ACMG: PM5, PM2_SUP, PP3 (PMID: 32807972: p.(Gly50Val) abolishes GALK1-Protein function)" "Germline" "-" "" "" "" "" "" "" "VUS (!)" "ACMG" "0000894272" "0" "30" "17" "73750721" "73750721" "subst" "4.06418E-6" "02326" "ITGB4_000095" "g.73750721G>A" "" "" "" "ITGB4(NM_000213.5):c.4383G>A (p.M1461I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894273" "0" "30" "17" "73750755" "73750755" "subst" "0.000812407" "02326" "ITGB4_000096" "g.73750755C>T" "" "" "" "ITGB4(NM_000213.5):c.4417C>T (p.L1473=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894274" "0" "30" "17" "73750847" "73750847" "subst" "0.00263981" "02326" "ITGB4_000047" "g.73750847G>A" "" "" "" "ITGB4(NM_000213.5):c.4509G>A (p.S1503=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894275" "0" "30" "17" "73751263" "73751263" "subst" "3.67755E-5" "02326" "ITGB4_000097" "g.73751263T>C" "" "" "" "ITGB4(NM_001005619.1):c.4476T>C (p.A1492=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894276" "0" "90" "17" "73751915" "73751915" "subst" "0" "02326" "ITGB4_000098" "g.73751915C>A" "" "" "" "ITGB4(NM_000213.5):c.4692C>A (p.Y1564*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000894277" "0" "30" "17" "73752789" "73752789" "subst" "0.0018773" "02326" "ITGB4_000099" "g.73752789C>G" "" "" "" "ITGB4(NM_000213.5):c.4902C>G (p.S1634=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894278" "0" "30" "17" "73753575" "73753575" "subst" "0.00119992" "02326" "ITGB4_000100" "g.73753575G>A" "" "" "" "ITGB4(NM_000213.5):c.5408G>A (p.R1803Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914968" "0" "30" "17" "73752507" "73752507" "del" "0" "02326" "ITGB4_000103" "g.73752507del" "" "" "" "ITGB4(NM_000213.5):c.4709-3delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914969" "0" "50" "17" "73752603" "73752603" "subst" "2.03224E-5" "02325" "ITGB4_000104" "g.73752603G>A" "" "" "" "ITGB4(NM_001005731.3):c.4592G>A (p.R1531Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000921558" "1" "50" "17" "73758836" "73758836" "subst" "0.00011381" "00006" "GALK1_000022" "g.73758836G>A" "" "{PMID:Li 2016:27307692}" "" "" "" "Germline" "" "" "0" "" "" "g.75762755G>A" "" "VUS" "" "0000921559" "1" "50" "17" "73759494" "73759494" "subst" "4.25492E-5" "00006" "GALK1_000024" "g.73759494C>T" "" "{PMID:Li 2016:27307692}" "" "" "" "Germline" "" "" "0" "" "" "g.75763413C>T" "" "VUS" "" "0000921560" "1" "50" "17" "73758961" "73758961" "subst" "0.000101899" "00006" "GALK1_000023" "g.73758961A>C" "" "{PMID:Li 2016:27307692}" "" "" "" "Germline" "" "" "0" "" "" "g.75762880A>C" "" "VUS" "" "0000926636" "0" "70" "17" "73761136" "73761136" "subst" "0" "02327" "GALK1_000025" "g.73761136G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000982801" "0" "90" "17" "73758812" "73758812" "subst" "0.000199258" "01804" "GALK1_000013" "g.73758812G>A" "" "" "" "GALK1(NM_000154.1):c.766C>T (p.R256W), GALK1(NM_000154.2):c.766C>T (p.(Arg256Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000987804" "1" "50" "17" "73760151" "73760151" "subst" "0" "04221" "GALK1_000026" "g.73760151G>A" "" "" "" "" "Additional phenotype information, segregation information and/or functional analysis may provide further evidence to reclassify the variant." "Germline" "yes" "rs376959270" "0" "" "" "g.75764070G>A" "" "VUS" "ACMG" "0000987805" "2" "50" "17" "73761162" "73761162" "subst" "0.00015191" "04221" "GALK1_000027" "g.73761162G>T" "" "" "" "" "Additional phenotype information, segregation information and/or functional analysis may provide further evidence to reclassify the variant." "Germline" "yes" "rs761374448" "0" "" "" "g.75765081G>T" "{CV:1959723}" "VUS" "ACMG" "0001003670" "0" "30" "17" "73753266" "73753266" "subst" "0.00195733" "02326" "ITGB4_000027" "g.73753266A>T" "" "" "" "ITGB4(NM_000213.5):c.5219-15A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042177" "0" "90" "17" "73750843" "73750846" "dup" "0" "01804" "ITGB4_000131" "g.73750843_73750846dup" "" "" "" "ITGB4(NM_000213.5):c.4505_4508dup (p.(Thr1504Leufs*69))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001042178" "0" "50" "17" "73754149" "73754149" "subst" "0.000188769" "01804" "ITGB4_000132" "g.73754149C>T" "" "" "" "GALK1(NM_000154.2):c.1167G>A (p.(Val389=))" "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 GALK1 ## Count = 66 "{{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}}" "0000249571" "00008316" "30" "2050" "0" "2050" "0" "c.*871T>C" "r.(=)" "p.(=)" "" "0000249572" "00008316" "30" "2050" "0" "2050" "0" "c.*871T>A" "r.(=)" "p.(=)" "" "0000249573" "00008316" "30" "1665" "0" "1665" "0" "c.*486T>G" "r.(=)" "p.(=)" "" "0000281596" "00008316" "10" "4457" "0" "4457" "0" "c.*3278G>C" "r.(=)" "p.(=)" "" "0000281597" "00008316" "10" "3538" "0" "3538" "0" "c.*2359G>C" "r.(=)" "p.(=)" "" "0000281598" "00008316" "90" "3518" "0" "3519" "0" "c.*2339_*2340del" "r.(=)" "p.(=)" "" "0000281599" "00008316" "30" "2274" "0" "2274" "0" "c.*1095C>T" "r.(=)" "p.(=)" "" "0000281600" "00008316" "90" "2126" "0" "2126" "0" "c.*947A>G" "r.(=)" "p.(=)" "" "0000281601" "00008316" "10" "1813" "0" "1813" "0" "c.*634A>G" "r.(=)" "p.(=)" "" "0000288173" "00008316" "30" "1119" "0" "1119" "0" "c.1119C>T" "r.(?)" "p.(Gly373=)" "" "0000288174" "00008316" "30" "574" "0" "574" "0" "c.574A>T" "r.(?)" "p.(Met192Leu)" "" "0000288175" "00008316" "30" "611" "4" "611" "4" "c.611+4G>T" "r.spl?" "p.?" "" "0000288176" "00008316" "30" "747" "0" "747" "0" "c.747G>A" "r.(?)" "p.(Ala249=)" "" "0000288177" "00008316" "30" "748" "0" "748" "0" "c.748C>T" "r.(?)" "p.(Leu250=)" "" "0000288178" "00008316" "10" "840" "0" "840" "0" "c.840C>T" "r.(?)" "p.(His280=)" "" "0000288179" "00008316" "30" "987" "0" "987" "0" "c.987G>A" "r.(?)" "p.(Val329=)" "" "0000289773" "00008316" "50" "5411" "0" "5411" "0" "c.*4232A>G" "r.(=)" "p.(=)" "" "0000289774" "00008316" "30" "3434" "0" "3434" "0" "c.*2255G>A" "r.(=)" "p.(=)" "" "0000289775" "00008316" "50" "2629" "0" "2629" "0" "c.*1450C>T" "r.(=)" "p.(=)" "" "0000346034" "00008316" "50" "107" "0" "107" "0" "c.107G>A" "r.(?)" "p.(Gly36Asp)" "" "0000346071" "00008316" "50" "124" "0" "124" "0" "c.124G>A" "r.(?)" "p.(Gly42Arg)" "" "0000563079" "00008316" "30" "4548" "0" "4548" "0" "c.*3369A>G" "r.(=)" "p.(=)" "" "0000563080" "00008316" "30" "4542" "0" "4542" "0" "c.*3363T>C" "r.(=)" "p.(=)" "" "0000563081" "00008316" "30" "4469" "0" "4469" "0" "c.*3290C>T" "r.(=)" "p.(=)" "" "0000563082" "00008316" "30" "2497" "0" "2497" "0" "c.*1318T>C" "r.(=)" "p.(=)" "" "0000563083" "00008316" "30" "2174" "0" "2174" "0" "c.*995G>A" "r.(=)" "p.(=)" "" "0000563085" "00008316" "30" "447" "0" "447" "0" "c.447G>A" "r.(?)" "p.(Thr149=)" "" "0000592099" "00008316" "90" "766" "0" "766" "0" "c.766C>T" "r.(?)" "p.(Arg256Trp)" "" "0000592100" "00008316" "90" "1067" "0" "1067" "0" "c.1067T>C" "r.(?)" "p.(Leu356Pro)" "" "0000616818" "00008316" "90" "4073" "0" "4073" "0" "c.*2894G>A" "r.(=)" "p.(=)" "" "0000616819" "00008316" "50" "364" "0" "364" "0" "c.364C>T" "r.(?)" "p.(Leu122Phe)" "" "0000658247" "00008316" "50" "1979" "0" "1979" "0" "c.*800C>A" "r.(=)" "p.(=)" "" "0000681023" "00008316" "50" "835" "0" "835" "0" "c.835C>T" "r.(?)" "p.(Arg279Trp)" "" "0000684800" "00008316" "30" "-22" "0" "-22" "0" "c.-22T>C" "r.(=)" "p.(=)" "" "0000692468" "00008316" "50" "766" "0" "766" "0" "c.766C>T" "r.(?)" "p.(Arg256Trp)" "" "0000712811" "00008316" "50" "682" "0" "682" "0" "c.682C>T" "r.(?)" "p.(Arg228Cys)" "" "0000726677" "00008316" "50" "735" "0" "735" "0" "c.735A>T" "r.(?)" "p.(Glu245Asp)" "" "0000808256" "00008316" "50" "2178" "0" "2178" "0" "c.*999C>G" "r.(=)" "p.(=)" "" "0000808257" "00008316" "50" "32" "0" "32" "0" "c.32A>T" "r.(?)" "p.(Glu11Val)" "" "0000814362" "00008316" "70" "997" "0" "997" "0" "c.997C>T" "r.(?)" "p.(Leu333Phe)" "" "0000814456" "00008316" "50" "998" "0" "998" "0" "c.998T>C" "r.(?)" "p.(Leu333Pro)" "" "0000855102" "00008316" "10" "3538" "0" "3538" "0" "c.*2359G>C" "r.(=)" "p.(=)" "" "0000855103" "00008316" "30" "2174" "0" "2174" "0" "c.*995G>A" "r.(=)" "p.(=)" "" "0000855104" "00008316" "30" "1782" "0" "1782" "0" "c.*603G>A" "r.(=)" "p.(=)" "" "0000865497" "00008316" "30" "2497" "0" "2497" "0" "c.*1318T>C" "r.(=)" "p.(=)" "" "0000865498" "00008316" "30" "948" "0" "948" "0" "c.948C>T" "r.(?)" "p.(Asp316=)" "" "0000878024" "00008316" "70" "149" "0" "149" "0" "c.149G>A" "r.(?)" "p.(Gly50Asp)" "" "0000894272" "00008316" "30" "4595" "0" "4595" "0" "c.*3416C>T" "r.(=)" "p.(=)" "" "0000894273" "00008316" "30" "4561" "0" "4561" "0" "c.*3382G>A" "r.(=)" "p.(=)" "" "0000894274" "00008316" "30" "4469" "0" "4469" "0" "c.*3290C>T" "r.(=)" "p.(=)" "" "0000894275" "00008316" "30" "4053" "0" "4053" "0" "c.*2874A>G" "r.(=)" "p.(=)" "" "0000894276" "00008316" "90" "3401" "0" "3401" "0" "c.*2222G>T" "r.(=)" "p.(=)" "" "0000894277" "00008316" "30" "2527" "0" "2527" "0" "c.*1348G>C" "r.(=)" "p.(=)" "" "0000894278" "00008316" "30" "1741" "0" "1741" "0" "c.*562C>T" "r.(=)" "p.(=)" "" "0000914968" "00008316" "30" "2814" "0" "2814" "0" "c.*1635del" "r.(?)" "p.(=)" "" "0000914969" "00008316" "50" "2713" "0" "2713" "0" "c.*1534C>T" "r.(=)" "p.(=)" "" "0000921558" "00008316" "50" "742" "0" "742" "0" "c.742C>T" "r.(?)" "p.(Arg248Trp)" "" "0000921559" "00008316" "50" "382" "0" "382" "0" "c.382G>A" "r.(?)" "p.(Val128Met)" "" "0000921560" "00008316" "50" "617" "0" "617" "0" "c.617T>G" "r.(?)" "p.(Leu206Trp)" "" "0000926636" "00008316" "70" "82" "0" "82" "0" "c.82C>A" "r.(?)" "p.(Pro28Thr)" "" "0000982801" "00008316" "90" "766" "0" "766" "0" "c.766C>T" "r.(?)" "p.(Arg256Trp)" "" "0000987804" "00008316" "50" "182" "0" "182" "0" "c.182C>T" "r.(?)" "p.(Thr61Met)" "2" "0000987805" "00008316" "50" "56" "0" "56" "0" "c.56C>A" "r.(?)" "p.(Ala19Asp)" "1" "0001003670" "00008316" "30" "2050" "0" "2050" "0" "c.*871T>A" "r.(=)" "p.(=)" "" "0001042177" "00008316" "90" "4471" "0" "4474" "0" "c.*3292_*3295dup" "r.(=)" "p.(=)" "" "0001042178" "00008316" "50" "1167" "0" "1167" "0" "c.1167G>A" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000261970" "0000592099" "0000261971" "0000592100" "0000309898" "0000684800" "0000328762" "0000712811" "0000386682" "0000814362" "0000386776" "0000814456" "0000418272" "0000878024" "0000435558" "0000921558" "0000435559" "0000921559" "0000435560" "0000921560" "0000453253" "0000987804" "0000453253" "0000987805"