### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KAT5) # 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}}" "KAT5" "K(lysine) acetyltransferase 5" "11" "q13" "unknown" "NG_033057.1" "UD_132319494320" "" "https://www.LOVD.nl/KAT5" "" "1" "5275" "10524" "601409" "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/KAT5_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-08-21 08:36:45" "00006" "2025-05-08 16:25:34" ## 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}}" "00010303" "KAT5" "transcript variant 2" "003" "NM_006388.3" "" "NP_006379.2" "" "" "" "-266" "1967" "1542" "65479473" "65487077" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00307900" "" "" "" "1" "" "00006" "{DOI:Humbert 2020:10.1016/j.ajhg.2020.08.002}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "white" "Pat1" "00307901" "" "" "" "1" "" "00006" "{DOI:Humbert 2020:10.1016/j.ajhg.2020.08.002}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "white" "Pat2" "00307902" "" "" "" "1" "" "00006" "{DOI:Humbert 2020:10.1016/j.ajhg.2020.08.002}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "African-American" "Pat3" "00453429" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00307900" "05611" "00307901" "05611" "00307902" "05611" "00453429" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05611 ## Count = 4 "{{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}}" "0000233323" "05611" "00307900" "00006" "Isolated (sporadic)" "29y" "see paper; ..., severe developmental delay, intellectual disabillity (FSIQ 40); ADHD, sleep disorder, disruptive behavior; seizures; partial agenesis corpus callosum; recurrent urinary tract infections; no congenital heart defect; no orofacial malformations; severe myopia; round face, flat facial profile, down-slanting corners mouth, depressed nasal bridge, prognathism, low-set ears, almond-shaped eyes" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000233324" "05611" "00307901" "00006" "Isolated (sporadic)" "12y" "see paper; ..., severe developmental delay, intellectual disabillity (IQ20-30); ADHD, severe sleep disorder, multiple stereotypies and disruptive behavior; seizures; corpus callosum dysgenesis, cerebellar atrophy; horseshoe kidney, vesico-ureteral reflux, cryptorchidism; no congenital heart defect; unilateral cleft lip and palate; strabismus, hypermetropia; lateral thinning of eyebrows, macrostomia, bulbous and asymmetric nose, thick lower lip, prominent chin" "" "" "" "" "" "" "" "" "" "" "" "0000233325" "05611" "00307902" "00006" "Isolated (sporadic)" "00y16m" "see paper; ..., microcephaly; severe global developmental delay; behavioral difficulties with tantrums and head banging; seizures; focal polymicrogyria, cerebellar atrophy; hypospadias, cryptorchidism; VSD, dysplastic pulmonary valve; submucous cleft palate; epiblepharon; round face, flat facial profile; down-slanting corners of mouth" "" "" "" "" "" "" "" "" "" "" "" "0000342092" "00198" "00453429" "03544" "Isolated (sporadic)" "" "HP:0001734, HP:0100867, HP:0002566, HP:0000377, HP:0000122, HP:0001629" "" "" "" "" "" "" "" "" "NEDFASB" "multiple congenital abnormalities" "" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000309042" "00307900" "1" "00006" "00006" "2020-08-21 08:54:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000309043" "00307901" "1" "00006" "00006" "2020-08-21 08:54:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000309044" "00307902" "1" "00006" "00006" "2020-08-21 08:54:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000455040" "00453429" "1" "03544" "03544" "2024-08-26 10:24:19" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000309042" "KAT5" "0000309043" "KAT5" "0000309044" "KAT5" ## 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 = 44 "{{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}}" "0000252205" "0" "30" "11" "65487285" "65487285" "subst" "4.0621E-6" "02326" "RNASEH2C_000021" "g.65487285A>G" "" "" "" "RNASEH2C(NM_032193.3):c.469-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65719814A>G" "" "likely benign" "" "0000254235" "0" "30" "11" "65488169" "65488169" "subst" "0.00229615" "01943" "RNASEH2C_000028" "g.65488169A>G" "" "" "" "RNASEH2C(NM_032193.3):c.61T>C (p.L21=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65720698A>G" "" "likely benign" "" "0000297684" "0" "30" "11" "65488239" "65488239" "subst" "0.00279327" "02325" "RNASEH2C_000029" "g.65488239T>C" "" "" "" "RNASEH2C(NM_032193.3):c.-10A>G, RNASEH2C(NM_032193.4):c.-10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65720768T>C" "" "likely benign" "" "0000297685" "0" "30" "11" "65487567" "65487567" "subst" "0.00249411" "02325" "RNASEH2C_000023" "g.65487567G>C" "" "" "" "RNASEH2C(NM_032193.3):c.417C>G (p.G139=), RNASEH2C(NM_032193.4):c.417C>G (p.G139=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65720096G>C" "" "likely benign" "" "0000297686" "0" "30" "11" "65487516" "65487516" "subst" "0.00252614" "02325" "RNASEH2C_000022" "g.65487516C>A" "" "" "" "RNASEH2C(NM_032193.3):c.468G>T (p.A156=, p.(Ala156=)), RNASEH2C(NM_032193.4):c.468G>T (p.A156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65720045C>A" "" "likely benign" "" "0000301471" "0" "30" "11" "65487903" "65487903" "subst" "0" "02326" "RNASEH2C_000027" "g.65487903G>A" "" "" "" "RNASEH2C(NM_032193.3):c.173-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65720432G>A" "" "likely benign" "" "0000301472" "0" "30" "11" "65487516" "65487516" "subst" "0.00252614" "02326" "RNASEH2C_000022" "g.65487516C>A" "" "" "" "RNASEH2C(NM_032193.3):c.468G>T (p.A156=, p.(Ala156=)), RNASEH2C(NM_032193.4):c.468G>T (p.A156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65720045C>A" "" "likely benign" "" "0000307137" "0" "30" "11" "65488239" "65488239" "subst" "0.00279327" "01943" "RNASEH2C_000029" "g.65488239T>C" "" "" "" "RNASEH2C(NM_032193.3):c.-10A>G, RNASEH2C(NM_032193.4):c.-10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65720768T>C" "" "likely benign" "" "0000307138" "0" "30" "11" "65487883" "65487883" "subst" "2.03457E-5" "01943" "RNASEH2C_000026" "g.65487883C>T" "" "" "" "RNASEH2C(NM_032193.3):c.178G>A (p.E60K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65720412C>T" "" "likely benign" "" "0000307139" "0" "50" "11" "65487769" "65487769" "subst" "2.84243E-5" "01943" "RNASEH2C_000025" "g.65487769G>C" "" "" "" "RNASEH2C(NM_032193.3):c.292C>G (p.P98A), RNASEH2C(NM_032193.4):c.292C>G (p.P98A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65720298G>C" "" "VUS" "" "0000307140" "0" "30" "11" "65487626" "65487626" "subst" "4.87357E-5" "01943" "RNASEH2C_000024" "g.65487626T>C" "" "" "" "RNASEH2C(NM_032193.3):c.358A>G (p.I120V), RNASEH2C(NM_032193.4):c.358A>G (p.(Ile120Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65720155T>C" "" "likely benign" "" "0000307141" "0" "30" "11" "65487567" "65487567" "subst" "0.00249411" "01943" "RNASEH2C_000023" "g.65487567G>C" "" "" "" "RNASEH2C(NM_032193.3):c.417C>G (p.G139=), RNASEH2C(NM_032193.4):c.417C>G (p.G139=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65720096G>C" "" "likely benign" "" "0000307142" "0" "30" "11" "65487516" "65487516" "subst" "0.00252614" "01943" "RNASEH2C_000022" "g.65487516C>A" "" "" "" "RNASEH2C(NM_032193.3):c.468G>T (p.A156=, p.(Ala156=)), RNASEH2C(NM_032193.4):c.468G>T (p.A156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65720045C>A" "" "likely benign" "" "0000545008" "0" "30" "11" "65487503" "65487503" "subst" "0.00324217" "01943" "KAT5_000001" "g.65487503C>T" "" "" "" "RNASEH2C(NM_032193.3):c.468+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65720032C>T" "" "likely benign" "" "0000545009" "0" "30" "11" "65487503" "65487503" "subst" "0.00324217" "02326" "KAT5_000001" "g.65487503C>T" "" "" "" "RNASEH2C(NM_032193.3):c.468+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65720032C>T" "" "likely benign" "" "0000545010" "0" "30" "11" "65487516" "65487516" "subst" "0.00252614" "01804" "RNASEH2C_000022" "g.65487516C>A" "" "" "" "RNASEH2C(NM_032193.3):c.468G>T (p.A156=, p.(Ala156=)), RNASEH2C(NM_032193.4):c.468G>T (p.A156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65720045C>A" "" "likely benign" "" "0000545011" "0" "30" "11" "65487755" "65487755" "subst" "8.12123E-6" "01943" "KAT5_000002" "g.65487755G>A" "" "" "" "RNASEH2C(NM_032193.3):c.306C>T (p.S102=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65720284G>A" "" "likely benign" "" "0000545012" "0" "50" "11" "65487796" "65487798" "del" "0" "01943" "RNASEH2C_000014" "g.65487796_65487798del" "" "" "" "RNASEH2C(NM_032193.3):c.268_270delAAG (p.K90del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65720325_65720327del" "" "VUS" "" "0000545013" "0" "10" "11" "65487796" "65487798" "del" "0" "02326" "RNASEH2C_000014" "g.65487796_65487798del" "" "" "" "RNASEH2C(NM_032193.3):c.268_270delAAG (p.K90del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65720325_65720327del" "" "benign" "" "0000545014" "0" "50" "11" "65488142" "65488142" "subst" "0" "01943" "KAT5_000003" "g.65488142G>A" "" "" "" "RNASEH2C(NM_032193.3):c.88C>T (p.H30Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65720671G>A" "" "VUS" "" "0000545015" "0" "50" "11" "65488180" "65488180" "subst" "0" "02325" "KAT5_000004" "g.65488180C>G" "" "" "" "RNASEH2C(NM_032193.4):c.50G>C (p.R17P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65720709C>G" "" "VUS" "" "0000613559" "0" "50" "11" "65487511" "65487511" "subst" "2.44614E-5" "01943" "KAT5_000006" "g.65487511C>T" "" "" "" "RNASEH2C(NM_032193.3):c.468+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65720040C>T" "" "VUS" "" "0000622677" "0" "30" "11" "65487508" "65487508" "subst" "3.26286E-5" "01943" "KAT5_000005" "g.65487508C>G" "" "" "" "RNASEH2C(NM_032193.3):c.468+8G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65720037C>G" "" "likely benign" "" "0000656854" "0" "30" "11" "65488161" "65488161" "subst" "3.61982E-5" "02326" "KAT5_000007" "g.65488161G>A" "" "" "" "RNASEH2C(NM_032193.3):c.69C>T (p.D23=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65720690G>A" "" "likely benign" "" "0000679271" "0" "30" "11" "65488101" "65488101" "subst" "5.07485E-5" "01943" "KAT5_000008" "g.65488101C>T" "" "" "" "RNASEH2C(NM_032193.3):c.129G>A (p.P43=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000683492" "0" "90" "11" "65480402" "65480402" "subst" "0" "00006" "KAT5_000009" "g.65480402G>A" "" "{DOI:Humbert 2020:10.1016/j.ajhg.2020.08.002}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000683493" "0" "90" "11" "65484393" "65484393" "subst" "0" "00006" "KAT5_000010" "g.65484393T>A" "" "{DOI:Humbert 2020:10.1016/j.ajhg.2020.08.002}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000683494" "0" "90" "11" "65486132" "65486132" "subst" "0" "00006" "KAT5_000011" "g.65486132T>G" "" "{DOI:Humbert 2020:10.1016/j.ajhg.2020.08.002}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000805271" "0" "50" "11" "65487737" "65487739" "del" "0" "01943" "KAT5_000012" "g.65487737_65487739del" "" "" "" "RNASEH2C(NM_032193.3):c.328_330delGAG (p.E110del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805272" "0" "30" "11" "65487826" "65487826" "subst" "0" "01943" "KAT5_000013" "g.65487826G>C" "" "" "" "RNASEH2C(NM_032193.3):c.235C>G (p.L79V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805273" "0" "30" "11" "65488199" "65488199" "subst" "0" "01943" "KAT5_000014" "g.65488199T>C" "" "" "" "RNASEH2C(NM_032193.3):c.31A>G (p.R11G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890077" "0" "30" "11" "65487626" "65487626" "subst" "4.87357E-5" "02326" "RNASEH2C_000024" "g.65487626T>C" "" "" "" "RNASEH2C(NM_032193.3):c.358A>G (p.I120V), RNASEH2C(NM_032193.4):c.358A>G (p.(Ile120Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890078" "0" "50" "11" "65487769" "65487769" "subst" "0.000125879" "02329" "KAT5_000015" "g.65487769G>A" "" "" "" "RNASEH2C(NM_032193.4):c.292C>T (p.P98S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890079" "0" "50" "11" "65487769" "65487769" "subst" "2.84243E-5" "02329" "RNASEH2C_000025" "g.65487769G>C" "" "" "" "RNASEH2C(NM_032193.3):c.292C>G (p.P98A), RNASEH2C(NM_032193.4):c.292C>G (p.P98A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949761" "0" "30" "11" "65487508" "65487508" "subst" "2.44714E-5" "02326" "KAT5_000016" "g.65487508C>T" "" "" "" "RNASEH2C(NM_032193.3):c.468+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966497" "0" "50" "11" "65480876" "65480876" "subst" "1.21869E-5" "02325" "KAT5_000017" "g.65480876C>T" "" "" "" "KAT5(NM_006388.4):c.343C>T (p.R115C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979753" "0" "50" "11" "65487626" "65487626" "subst" "4.87357E-5" "01804" "RNASEH2C_000024" "g.65487626T>C" "" "" "" "RNASEH2C(NM_032193.3):c.358A>G (p.I120V), RNASEH2C(NM_032193.4):c.358A>G (p.(Ile120Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979754" "0" "50" "11" "65487707" "65487707" "subst" "7.30923E-5" "01804" "KAT5_000018" "g.65487707G>A" "" "" "" "RNASEH2C(NM_032193.3):c.348+6C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990017" "0" "70" "11" "65480401" "65480401" "subst" "0" "03544" "KAT5_000020" "g.65480401C>T" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.65712930C>T" "{CV:3895531}" "likely pathogenic" "ACMG" "0000999278" "0" "30" "11" "65479730" "65479730" "subst" "0" "01804" "KAT5_000019" "g.65479730G>A" "" "" "" "KAT5(NM_182710.2):c.-9G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999279" "0" "50" "11" "65480840" "65480840" "subst" "1.21932E-5" "02325" "KAT5_000021" "g.65480840G>A" "" "" "" "KAT5(NM_006388.4):c.307G>A (p.G103R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999280" "0" "50" "11" "65480970" "65480970" "subst" "4.0626E-6" "01804" "KAT5_000022" "g.65480970C>T" "" "" "" "KAT5(NM_182710.2):c.536C>T (p.(Ser179Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999281" "0" "30" "11" "65484225" "65484225" "subst" "3.65456E-5" "01804" "KAT5_000023" "g.65484225G>A" "" "" "" "KAT5(NM_182710.2):c.1117G>A (p.(Val373Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038602" "0" "30" "11" "65477813" "65477813" "subst" "0" "01804" "KAT5_000024" "g.65477813C>T" "" "" "" "KAT5(NM_182710.3):c.-1926C>T" "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 KAT5 ## Count = 44 "{{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}}" "0000252205" "00010303" "30" "2175" "0" "2175" "0" "c.*633A>G" "r.(=)" "p.(=)" "" "0000254235" "00010303" "30" "3059" "0" "3059" "0" "c.*1517A>G" "r.(=)" "p.(=)" "" "0000297684" "00010303" "30" "3129" "0" "3129" "0" "c.*1587T>C" "r.(=)" "p.(=)" "" "0000297685" "00010303" "30" "2457" "0" "2457" "0" "c.*915G>C" "r.(=)" "p.(=)" "" "0000297686" "00010303" "30" "2406" "0" "2406" "0" "c.*864C>A" "r.(=)" "p.(=)" "" "0000301471" "00010303" "30" "2793" "0" "2793" "0" "c.*1251G>A" "r.(=)" "p.(=)" "" "0000301472" "00010303" "30" "2406" "0" "2406" "0" "c.*864C>A" "r.(=)" "p.(=)" "" "0000307137" "00010303" "30" "3129" "0" "3129" "0" "c.*1587T>C" "r.(=)" "p.(=)" "" "0000307138" "00010303" "30" "2773" "0" "2773" "0" "c.*1231C>T" "r.(=)" "p.(=)" "" "0000307139" "00010303" "50" "2659" "0" "2659" "0" "c.*1117G>C" "r.(=)" "p.(=)" "" "0000307140" "00010303" "30" "2516" "0" "2516" "0" "c.*974T>C" "r.(=)" "p.(=)" "" "0000307141" "00010303" "30" "2457" "0" "2457" "0" "c.*915G>C" "r.(=)" "p.(=)" "" "0000307142" "00010303" "30" "2406" "0" "2406" "0" "c.*864C>A" "r.(=)" "p.(=)" "" "0000545008" "00010303" "30" "2393" "0" "2393" "0" "c.*851C>T" "r.(=)" "p.(=)" "" "0000545009" "00010303" "30" "2393" "0" "2393" "0" "c.*851C>T" "r.(=)" "p.(=)" "" "0000545010" "00010303" "30" "2406" "0" "2406" "0" "c.*864C>A" "r.(=)" "p.(=)" "" "0000545011" "00010303" "30" "2645" "0" "2645" "0" "c.*1103G>A" "r.(=)" "p.(=)" "" "0000545012" "00010303" "50" "2686" "0" "2688" "0" "c.*1144_*1146del" "r.(=)" "p.(=)" "" "0000545013" "00010303" "10" "2686" "0" "2688" "0" "c.*1144_*1146del" "r.(=)" "p.(=)" "" "0000545014" "00010303" "50" "3032" "0" "3032" "0" "c.*1490G>A" "r.(=)" "p.(=)" "" "0000545015" "00010303" "50" "3070" "0" "3070" "0" "c.*1528C>G" "r.(=)" "p.(=)" "" "0000613559" "00010303" "50" "2401" "0" "2401" "0" "c.*859C>T" "r.(=)" "p.(=)" "" "0000622677" "00010303" "30" "2398" "0" "2398" "0" "c.*856C>G" "r.(=)" "p.(=)" "" "0000656854" "00010303" "30" "3051" "0" "3051" "0" "c.*1509G>A" "r.(=)" "p.(=)" "" "0000679271" "00010303" "30" "2991" "0" "2991" "0" "c.*1449C>T" "r.(=)" "p.(=)" "" "0000683492" "00010303" "90" "158" "0" "158" "0" "c.158G>A" "r.(?)" "p.(Arg53His)" "" "0000683493" "00010303" "90" "1105" "0" "1105" "0" "c.1105T>A" "r.(?)" "p.(Cys369Ser)" "" "0000683494" "00010303" "90" "1237" "0" "1237" "0" "c.1237T>G" "r.(?)" "p.(Ser413Ala)" "" "0000805271" "00010303" "50" "2627" "0" "2629" "0" "c.*1085_*1087del" "r.(=)" "p.(=)" "" "0000805272" "00010303" "30" "2716" "0" "2716" "0" "c.*1174G>C" "r.(=)" "p.(=)" "" "0000805273" "00010303" "30" "3089" "0" "3089" "0" "c.*1547T>C" "r.(=)" "p.(=)" "" "0000890077" "00010303" "30" "2516" "0" "2516" "0" "c.*974T>C" "r.(=)" "p.(=)" "" "0000890078" "00010303" "50" "2659" "0" "2659" "0" "c.*1117G>A" "r.(=)" "p.(=)" "" "0000890079" "00010303" "50" "2659" "0" "2659" "0" "c.*1117G>C" "r.(=)" "p.(=)" "" "0000949761" "00010303" "30" "2398" "0" "2398" "0" "c.*856C>T" "r.(=)" "p.(=)" "" "0000966497" "00010303" "50" "343" "0" "343" "0" "c.343C>T" "r.(?)" "p.(Arg115Cys)" "" "0000979753" "00010303" "50" "2516" "0" "2516" "0" "c.*974T>C" "r.(=)" "p.(=)" "" "0000979754" "00010303" "50" "2597" "0" "2597" "0" "c.*1055G>A" "r.(=)" "p.(=)" "" "0000990017" "00010303" "70" "157" "0" "157" "0" "c.157C>T" "r.(?)" "p.(Arg53Cys)" "4" "0000999278" "00010303" "30" "-9" "0" "-9" "0" "c.-9G>A" "r.(?)" "p.(=)" "" "0000999279" "00010303" "50" "307" "0" "307" "0" "c.307G>A" "r.(?)" "p.(Gly103Arg)" "" "0000999280" "00010303" "50" "437" "0" "437" "0" "c.437C>T" "r.(?)" "p.(Ser146Leu)" "" "0000999281" "00010303" "30" "1018" "0" "1018" "0" "c.1018G>A" "r.(?)" "p.(Val340Ile)" "" "0001038602" "00010303" "30" "-1926" "0" "-1926" "0" "c.-1926C>T" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000309042" "0000683492" "0000309043" "0000683493" "0000309044" "0000683494" "0000455040" "0000990017"