### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = SUV420H1)
# 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}}"
"SUV420H1" "suppressor of variegation 4-20 homolog 1 (Drosophila)" "11" "q13.2" "unknown" "NC_000011.9" "UD_132319498570" "" "https://www.LOVD.nl/KMT5B" "" "1" "24283" "51111" "610881" "1" "1" "1" "1" "NOTE: gene name changed from SUV420H1 to KMT5B\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "NOTE: gene name changed from SUV420H1 to KMT5B" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-09-24 16:35:46" "00000" "2025-11-01 13:22:20"
## 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}}"
"00020593" "SUV420H1" "transcript variant 1" "001" "NM_017635.3" "" "NP_060105.3" "" "" "" "-256" "4306" "2658" "67980784" "67923507" "" "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}}"
"00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49"
"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"
"05836" "MRD51" "mental retardation, autosomal dominant, type 51 (MRD51)" "AD" "617788" "" "" "" "00006" "2020-09-24 16:37:39" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}" "{{diseaseid}}"
"SUV420H1" "00139"
"SUV420H1" "05836"
## Individuals ## Do not remove or alter this header ##
## Count = 17
"{{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}}"
"00180374" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" ""
"00311393" "" "" "" "1" "" "00006" "{PMID:Granadillo 2020:32152250}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "white" "Pat11"
"00311412" "" "" "" "1" "" "00006" "{PMID:Stessman 2017:28191889}" "proband" "M" "" "Sweden" "" "0" "" "" "" "1895-11D/Pat3"
"00311413" "" "" "" "1" "" "00006" "{PMID:Stessman 2017:28191889}" "unaffected sibling" "" "" "" "" "0" "" "" "" "215-13198-2154"
"00311414" "" "" "" "1" "" "00006" "{PMID:Stessman 2017:28191889}" "proband" "" "" "Belgium" "" "0" "" "" "" "119530"
"00311415" "" "" "" "1" "" "00006" "{PMID:Stessman 2017:28191889}" "proband" "F" "" "Sweden" "" "0" "" "" "" "2135-09D/Pat2"
"00311429" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "F" "" "" "" "0" "" "" "" "Pat8"
"00311430" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "M" "" "" "" "0" "" "" "" "Pat9"
"00311431" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "M" "" "" "" "0" "" "" "" "Pat10/DECIPHER251808"
"00311432" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "M" "" "" "" "0" "" "" "" "Pat11/DECIPHER250933"
"00311985" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" ""
"00311986" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" ""
"00312093" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER257438"
"00312094" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER339957"
"00312095" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER251970"
"00312096" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER280831"
"00312097" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER286222"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 17
"{{individualid}}" "{{diseaseid}}"
"00180374" "00198"
"00311393" "05611"
"00311412" "00198"
"00311413" "00198"
"00311414" "00198"
"00311415" "00198"
"00311429" "05611"
"00311430" "05611"
"00311431" "05611"
"00311432" "05611"
"00311985" "00198"
"00311986" "00198"
"00312093" "00198"
"00312094" "00198"
"00312095" "00198"
"00312096" "00198"
"00312097" "00198"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 05611, 05836
## Count = 15
"{{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}}"
"0000142770" "00198" "00180374" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Seizures (HP:0001250)" "" "" "" "" "" "" "" "" "" "" ""
"0000236640" "05611" "00311393" "00006" "Isolated (sporadic)" "13y" "birth weight normal, length normal; normal height, normal weight, OFC 0.8; developmental delay/intellectual disability, TIQ 55; gross motor delay, fine motor delay, walk-18m; speech delay, 4y-first words in sentences; no autism, no attention deficit hyperactivity disorder, Impulsivity; no hypotonia; no sleep problems; no hearing loss; normal vision; muscle weakness; normal skin; midface flattening, normal forehead, downslanting palpebral fissures, normal ears, normal nose, thin upper lip; no gastrointestinal problems; MRI brain left temporal arachnoid cyst, hypoplasia of left temporal horn, mild frontal atrophy, left ventricle larger than right ventricle; ECG normal; renal ultrasound normal; hypereflexia" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" ""
"0000236659" "00198" "00311412" "00006" "Isolated (sporadic)" "07y" "" "" "" "" "" "" "" "" "" "MRD51" "intellectual disability" ""
"0000236660" "00198" "00311413" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236661" "00198" "00311414" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236662" "00198" "00311415" "00006" "Isolated (sporadic)" "10y" "" "" "" "" "" "" "" "" "" "MRD51" "intellectual disability" ""
"0000236676" "05611" "00311429" "00006" "Isolated (sporadic)" "13y" "no perinatal history; moderate developmental delay/intellectual disability; autistic traits; no malformation/anomalies; tall stature (SD 2.91), normal weight (SD 0.9), macrocephaly (SD 4.43); craniofacial dysmorphisms; hypermobility" "" "" "" "" "" "" "" "" "" "developmental delay" ""
"0000236677" "05611" "00311430" "00006" "Isolated (sporadic)" "19y" "no perinatal history; severe developmental delay/intellectual disability; seizures,hypotonia, autistic traits; no malformation/anomalies; normal stature (SD 0.74), normal weight (SD 0.9), OFC normal (SD 1.93); craniofacial dysmorphisms" "" "" "" "" "" "" "" "" "" "developmental delay" ""
"0000236678" "05611" "00311431" "00006" "Isolated (sporadic)" "14y" "no perinatal history; mild developmental delay/intellectual disability; seizures, enlarged right ventricl, white matter signal alterations; normal stature (SD 0.63), macrocephaly (SD 2); craniofacial dysmorphisms; strabismus, scoliosis; low-set ears, downslanted palpebral fissures, triangular face, delayed speech, delayed language development, intellectual disability" "" "" "" "" "" "" "" "" "" "developmental delay" ""
"0000236679" "05611" "00311432" "00006" "Isolated (sporadic)" "16y" "no perinatal history; mild to moderate developmental delay/intellectual disability; cryptorchidism, pectus excavatum, overlapping 2nd and 3rd toes; normal stature (SD 1.68), normal weight (SD 0.24), OFC normal (SD 1.87); craniofacial dysmorphisms; strabismus, diabetes mellitus, hypermobility" "" "" "" "" "" "" "" "" "" "developmental delay" ""
"0000237222" "00198" "00312093" "00006" "Unknown" "" "autism, intellectual disability" "" "" "" "" "" "" "" "" "" "" ""
"0000237223" "00198" "00312094" "00006" "Unknown" "" "hearing impairment, autism, head-banging, seizures, self-injurious behaviour, severe global developmental delay, sleep disturbance, stereotypical body rocking" "" "" "" "" "" "" "" "" "" "" ""
"0000237224" "00198" "00312095" "00006" "Unknown" "" "patent ductus arteriosus, feeding difficulties in infancy, deeply set eye, hypertelorism, small for gestational age, cleft palate, frontal bossing, micrognathia, clinodactyly 5th finger, muscular hypotonia, aphasia, intellectual disability" "" "" "" "" "" "" "" "" "" "" ""
"0000237225" "00198" "00312096" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000237226" "00198" "00312097" "00006" "Unknown" "" "abnormality foot, abnormality hand" "" "" "" "" "" "" "" "" "" "" ""
## Screenings ## Do not remove or alter this header ##
## Count = 17
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000181311" "00180374" "1" "01807" "01807" "2018-09-06 14:21:25" "" "" "SEQ" "DNA" "" ""
"0000312563" "00311393" "1" "00006" "00006" "2020-09-24 16:15:46" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000312582" "00311412" "1" "00006" "00006" "2020-09-24 19:30:17" "" "" "SEQ;SEQ-NG" "DNA" "" "208 candidate gene panel"
"0000312583" "00311413" "1" "00006" "00006" "2020-09-24 19:30:17" "" "" "SEQ;SEQ-NG" "DNA" "" "208 candidate gene panel"
"0000312584" "00311414" "1" "00006" "00006" "2020-09-24 19:30:17" "" "" "SEQ;SEQ-NG" "DNA" "" "208 candidate gene panel"
"0000312585" "00311415" "1" "00006" "00006" "2020-09-24 19:30:17" "" "" "SEQ;SEQ-NG" "DNA" "" "208 candidate gene panel"
"0000312599" "00311429" "1" "00006" "00006" "2020-09-25 11:13:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000312600" "00311430" "1" "00006" "00006" "2020-09-25 11:13:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000312601" "00311431" "1" "00006" "00006" "2020-09-25 11:13:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000312602" "00311432" "1" "00006" "00006" "2020-09-25 11:13:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000313157" "00311985" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES"
"0000313158" "00311986" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES"
"0000313265" "00312093" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" ""
"0000313266" "00312094" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" ""
"0000313267" "00312095" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" ""
"0000313268" "00312096" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" ""
"0000313269" "00312097" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 16
"{{screeningid}}" "{{geneid}}"
"0000312563" "TNRC6B"
"0000312582" "SUV420H1"
"0000312583" "SUV420H1"
"0000312584" "SUV420H1"
"0000312585" "SUV420H1"
"0000312599" "SUV420H1"
"0000312600" "SUV420H1"
"0000312601" "SUV420H1"
"0000312602" "SUV420H1"
"0000313157" "SUV420H1"
"0000313158" "SUV420H1"
"0000313265" "SUV420H1"
"0000313266" "SUV420H1"
"0000313267" "SUV420H1"
"0000313268" "SUV420H1"
"0000313269" "SUV420H1"
## 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 = 54
"{{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}}"
"0000290494" "0" "30" "11" "67925832" "67925832" "subst" "3.66101E-5" "01943" "SUV420H1_000002" "g.67925832C>T" "" "" "" "KMT5B(NM_017635.4):c.1981G>A (p.V661M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68158365C>T" "" "likely benign" ""
"0000290495" "0" "50" "11" "67925326" "67925328" "del" "0" "01943" "SUV420H1_000001" "g.67925326_67925328del" "" "" "" "KMT5B(NM_017635.4):c.2490_2492delCTC (p.S832del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68157859_68157861del" "" "VUS" ""
"0000313211" "0" "50" "11" "67938603" "67938603" "subst" "0" "02329" "SUV420H1_000005" "g.67938603G>A" "" "" "" "KMT5B(NM_001300907.1):c.340C>T (p.R114*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68171136G>A" "" "VUS" ""
"0000322361" "0" "50" "11" "67926308" "67926308" "subst" "0" "01804" "SUV420H1_000003" "g.67926308G>C" "" "" "" "SUV420H1(NM_017635.3):c.1505C>G (p.(Ala502Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68158841G>C" "" "VUS" ""
"0000322362" "0" "50" "11" "67934550" "67934550" "subst" "0" "01804" "SUV420H1_000004" "g.67934550A>G" "" "" "" "SUV420H1(NM_017635.3):c.1073T>C (p.(Leu358Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68167083A>G" "" "VUS" ""
"0000322363" "0" "50" "11" "67938703" "67938703" "subst" "0" "01804" "SUV420H1_000006" "g.67938703C>T" "" "" "" "SUV420H1(NM_016028.4):c.836G>A (p.(Cys279Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68171236C>T" "" "VUS" ""
"0000344420" "0" "50" "11" "67953394" "67953394" "subst" "0" "02327" "SUV420H1_000008" "g.67953394A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68185927A>T" "" "VUS" ""
"0000344769" "0" "50" "11" "67957447" "67957447" "subst" "0" "02327" "SUV420H1_000009" "g.67957447G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68189980G>A" "" "VUS" ""
"0000405005" "0" "70" "11" "67941376" "67941379" "dup" "0" "01807" "SUV420H1_000010" "g.67941376_67941379dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.68173909_68173912dup" "" "likely pathogenic" ""
"0000545431" "0" "70" "11" "67925725" "67925729" "del" "0" "02329" "SUV420H1_000012" "g.67925725_67925729del" "" "" "" "KMT5B(NM_001300907.1):c.1570_1574delAAGAA (p.K524Efs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68158258_68158262del" "" "likely pathogenic" ""
"0000545432" "0" "50" "11" "67926255" "67926255" "subst" "1.62499E-5" "01943" "SUV420H1_000013" "g.67926255T>C" "" "" "" "KMT5B(NM_001300907.1):c.1042A>G (p.N348D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68158788T>C" "" "VUS" ""
"0000545434" "0" "70" "11" "67938625" "67938629" "del" "0" "02327" "SUV420H1_000015" "g.67938625_67938629del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68171158_68171162del" "" "likely pathogenic" ""
"0000545436" "0" "50" "11" "67953336" "67953336" "subst" "4.06233E-6" "01943" "SUV420H1_000017" "g.67953336C>T" "" "" "" "KMT5B(NM_017635.4):c.220G>A (p.A74T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68185869C>T" "" "VUS" ""
"0000613635" "0" "50" "11" "67926088" "67926090" "del" "0.00111801" "02325" "SUV420H1_000018" "g.67926088_67926090del" "" "" "" "KMT5B(NM_001300907.1):c.1207_1209delAGT (p.S403del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68158621_68158623del" "" "VUS" ""
"0000613636" "0" "70" "11" "67934486" "67934487" "del" "0" "02325" "SUV420H1_000019" "g.67934486_67934487del" "" "" "" "KMT5B(NM_001300907.1):c.622_623delAC (p.T208*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68167019_68167020del" "" "likely pathogenic" ""
"0000694167" "0" "70" "11" "67938620" "67938624" "del" "0" "00006" "SUV420H1_000015" "g.67938620_67938624del" "" "{PMID:Granadillo 2020:32152250}" "" "" "" "De novo" "" "" "0" "" "" "" "" "VUS" ""
"0000694182" "0" "90" "11" "67926255" "67926256" "del" "0" "00006" "SUV420H1_000022" "g.67926255_67926256del" "" "{PMID:Stessman 2017:28191889}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000694183" "0" "90" "11" "67938521" "67938521" "subst" "0" "00006" "SUV420H1_000023" "g.67938521C>T" "" "{PMID:Stessman 2017:28191889}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000694184" "0" "90" "11" "67939085" "67939085" "subst" "0" "00006" "SUV420H1_000024" "g.67939085C>T" "" "{PMID:Stessman 2017:28191889}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000694185" "0" "90" "11" "67939105" "67939105" "del" "0" "00006" "SUV420H1_000025" "g.67939105del" "" "{PMID:Stessman 2017:28191889}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000694200" "0" "70" "11" "67953338" "67953338" "del" "0" "00006" "SUV420H1_000027" "g.67953338del" "" "{PMID:Faundes 2018:29276005}" "" "" "" "De novo" "" "" "0" "" "" "g.68185871del" "" "likely pathogenic (dominant)" ""
"0000694201" "0" "70" "11" "67941365" "67941365" "subst" "0" "00006" "SUV420H1_000026" "g.67941365G>A" "" "{PMID:Faundes 2018:29276005}" "" "" "" "De novo" "" "" "0" "" "" "g.68173898G>A" "" "likely pathogenic (dominant)" ""
"0000694202" "0" "70" "11" "67888021" "68287033" "del" "0" "00006" "SUV420H1_000021" "g.(?_67888021)_(68287033_?)del" "" "{PMID:Faundes 2018:29276005}" "" "67888021-68287033del" "399.01 Kb deletion" "De novo" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" ""
"0000694203" "0" "70" "11" "67550395" "68389391" "del" "0" "00006" "SUV420H1_000021" "g.(?_67550395)_(68389391_?)del" "" "{PMID:Faundes 2018:29276005}" "" "del 67550395-68389391" "839 Kb deletion" "De novo" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" ""
"0000694891" "0" "90" "11" "67941365" "67941365" "subst" "0" "00006" "SUV420H1_000026" "g.67941365G>A" "" "{PMID:Faundes 2018:29276005}" "" "" "no possible causative variants identified in other genes" "De novo" "" "" "0" "" "" "g.68173898G>A" "" "pathogenic" "ACMG"
"0000694892" "0" "90" "11" "67953338" "67953338" "del" "0" "00006" "SUV420H1_000027" "g.67953338del" "" "{PMID:Faundes 2018:29276005}" "" "" "no possible causative variants identified in other genes" "De novo" "" "" "0" "" "" "g.68185871del" "" "pathogenic" "ACMG"
"0000694999" "0" "90" "11" "67854277" "69141831" "del" "0" "00006" "SUV420H1_000021" "g.(?_67854277)_(69141831_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "also affects GAL gene" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000695000" "0" "90" "11" "66541291" "69041893" "del" "0" "00006" "SUV420H1_000021" "g.(?_66541291)_(69041893_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "also affects GAL gene" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000695001" "0" "90" "11" "66947586" "72091382" "del" "0" "00006" "SUV420H1_000021" "g.(?_66947586)_(72091382_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "also affects genes GAL, SHANK2" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000695002" "0" "90" "11" "67820355" "73249528" "del" "0" "00006" "SUV420H1_000021" "g.(?_67820355)_(73249528_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "also affects genes GAL, SHANK2" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000695003" "0" "90" "11" "212739" "134267121" "del" "0" "00006" "SUV420H1_000021" "g.(?_212739)_(134267121_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "also affects other genes; individual carries other CNVs 4:8383341-8694621" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000723665" "0" "70" "11" "67925441" "67925441" "dup" "0" "02327" "SUV420H1_000028" "g.67925441dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000723666" "0" "30" "11" "67938502" "67938502" "subst" "0.000457498" "01943" "SUV420H1_000029" "g.67938502G>A" "" "" "" "KMT5B(NM_001300907.1):c.441C>T (p.C147=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000805347" "0" "30" "11" "67925863" "67925863" "subst" "0" "01943" "SUV420H1_000030" "g.67925863A>C" "" "" "" "KMT5B(NM_001300907.1):c.1434T>G (p.S478=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000805348" "0" "30" "11" "67926251" "67926251" "subst" "0.000182839" "01943" "SUV420H1_000031" "g.67926251G>A" "" "" "" "KMT5B(NM_001300907.1):c.1046C>T (p.P349L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000805349" "0" "50" "11" "67926515" "67926515" "subst" "0.00131906" "01943" "SUV420H1_000014" "g.67926515T>C" "" "" "" "KMT5B(NM_001300907.1):c.782A>G (p.N261S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000853128" "0" "70" "11" "67926021" "67926021" "del" "0" "02327" "SUV420H1_000032" "g.67926021del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000862666" "0" "30" "11" "67925546" "67925546" "subst" "0.0030632" "01943" "SUV420H1_000011" "g.67925546T>C" "" "" "" "KMT5B(NM_001300907.1):c.1751A>G (p.N584S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000925489" "0" "50" "11" "67939024" "67939024" "subst" "0" "02325" "SUV420H1_000033" "g.67939024G>A" "" "" "" "KMT5B(NM_017635.5):c.806C>T (p.A269V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000929962" "0" "50" "11" "67926294" "67926294" "subst" "8.53249E-5" "02325" "SUV420H1_000034" "g.67926294C>T" "" "" "" "KMT5B(NM_017635.5):c.1519G>A (p.G507R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000944777" "0" "50" "11" "67953336" "67953336" "subst" "4.06233E-6" "03779" "SUV420H1_000017" "g.67953336C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs1250854401" "0" "" "" "" "" "VUS" ""
"0000979799" "0" "30" "11" "67925977" "67925979" "del" "0" "01804" "SUV420H1_000035" "g.67925977_67925979del" "" "" "" "KMT5B(NM_017635.5):c.1837_1839del (p.(Lys613del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000979800" "0" "50" "11" "67926305" "67926305" "subst" "0" "01804" "SUV420H1_000036" "g.67926305G>A" "" "" "" "KMT5B(NM_017635.5):c.1508C>T (p.(Ala503Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000979801" "0" "30" "11" "67934604" "67934604" "subst" "3.26749E-5" "01804" "SUV420H1_000037" "g.67934604G>A" "" "" "" "KMT5B(NM_017635.5):c.1019C>T (p.(Ala340Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000979802" "0" "50" "11" "67939107" "67939107" "subst" "0" "01804" "SUV420H1_000038" "g.67939107C>T" "" "" "" "KMT5B(NM_001300908.2):c.3G>A (p.(Met1?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000979803" "0" "90" "11" "67939172" "67939172" "subst" "0" "01804" "SUV420H1_000039" "g.67939172G>A" "" "" "" "KMT5B(NM_017635.5):c.658C>T (p.(Arg220Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000999399" "0" "50" "11" "67925635" "67925637" "del" "0" "01804" "SUV420H1_000040" "g.67925635_67925637del" "" "" "" "SUV420H1(NM_017635.3):c.2183_2185delGCA (p.(Ser728del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000999400" "0" "30" "11" "67926107" "67926107" "subst" "0.000280666" "01804" "SUV420H1_000041" "g.67926107G>A" "" "" "" "SUV420H1(NM_017635.3):c.1706C>T (p.(Thr569Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000999401" "0" "50" "11" "67939009" "67939009" "subst" "0" "01804" "SUV420H1_000042" "g.67939009C>T" "" "" "" "SUV420H1(NM_017635.3):c.820+1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001026063" "0" "90" "11" "67926630" "67926630" "subst" "0" "02327" "SUV420H1_000043" "g.67926630G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001038681" "0" "50" "11" "67925449" "67925451" "del" "0" "01804" "SUV420H1_000044" "g.67925449_67925451del" "" "" "" "KMT5B(NM_017635.5):c.2362_2364del (p.(Arg788del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001038682" "0" "50" "11" "67926195" "67926195" "subst" "8.1314E-6" "01804" "SUV420H1_000045" "g.67926195G>A" "" "" "" "KMT5B(NM_017635.5):c.1618C>T (p.(Arg540Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001038683" "0" "30" "11" "67941022" "67941022" "subst" "0" "01804" "SUV420H1_000046" "g.67941022C>T" "" "" "" "KMT5B(NM_017635.5):c.653+249G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001053963" "0" "50" "11" "67933381" "67933381" "subst" "1.24681E-5" "01804" "SUV420H1_000047" "g.67933381T>C" "" "" "" "KMT5B(NM_001363566.2):c.1209A>G (p.(*403Trpext*2))" "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 SUV420H1
## Count = 54
"{{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}}"
"0000290494" "00020593" "30" "1981" "0" "1981" "0" "c.1981G>A" "r.(?)" "p.(Val661Met)" ""
"0000290495" "00020593" "50" "2490" "0" "2492" "0" "c.2490_2492del" "r.(?)" "p.(Ser832del)" ""
"0000313211" "00020593" "50" "856" "0" "856" "0" "c.856C>T" "r.(?)" "p.(Arg286Ter)" ""
"0000322361" "00020593" "50" "1505" "0" "1505" "0" "c.1505C>G" "r.(?)" "p.(Ala502Gly)" ""
"0000322362" "00020593" "50" "1073" "0" "1073" "0" "c.1073T>C" "r.(?)" "p.(Leu358Ser)" ""
"0000322363" "00020593" "50" "836" "0" "836" "0" "c.836G>A" "r.(?)" "p.(Cys279Tyr)" ""
"0000344420" "00020593" "50" "162" "0" "162" "0" "c.162T>A" "r.(?)" "p.(Cys54Ter)" ""
"0000344769" "00020593" "50" "97" "0" "97" "0" "c.97C>T" "r.(?)" "p.(Gln33Ter)" ""
"0000405005" "00020593" "70" "554" "0" "557" "0" "c.554_557dup" "r.(?)" "p.(Arg187Phefs*7)" ""
"0000545431" "00020593" "70" "2086" "0" "2090" "0" "c.2086_2090del" "r.(?)" "p.(Lys696GlufsTer7)" ""
"0000545432" "00020593" "50" "1558" "0" "1558" "0" "c.1558A>G" "r.(?)" "p.(Asn520Asp)" ""
"0000545434" "00020593" "70" "841" "-6" "841" "-2" "c.841-6_841-2del" "r.spl?" "p.?" ""
"0000545436" "00020593" "50" "220" "0" "220" "0" "c.220G>A" "r.(?)" "p.(Ala74Thr)" ""
"0000613635" "00020593" "50" "1723" "0" "1725" "0" "c.1723_1725del" "r.(?)" "p.(Ser575del)" ""
"0000613636" "00020593" "70" "1138" "0" "1139" "0" "c.1138_1139del" "r.(?)" "p.(Thr380Ter)" ""
"0000694167" "00020593" "70" "841" "-6" "841" "-2" "c.841-6_841-2del" "r.spl?" "p.?" ""
"0000694182" "00020593" "90" "1557" "0" "1558" "0" "c.1557_1558del" "r.(?)" "p.(Asn497Serfs*33)" ""
"0000694183" "00020593" "90" "938" "0" "938" "0" "c.938G>A" "r.(?)" "p.(Gly313Glu)" ""
"0000694184" "00020593" "90" "745" "0" "745" "0" "c.745G>A" "r.(?)" "p.(Asp249Asn)" ""
"0000694185" "00020593" "90" "725" "0" "725" "0" "c.725del" "r.(?)" "p.(Leu242Hisfs*30)" ""
"0000694200" "00020593" "70" "219" "0" "219" "0" "c.219del" "r.(?)" "p.(Ala74Profs*10)" ""
"0000694201" "00020593" "70" "559" "0" "559" "0" "c.559C>T" "r.(?)" "p.(Arg187*)" ""
"0000694202" "00020593" "70" "0" "0" "0" "0" "c.-256_*1648{0}" "r.0" "p.0" ""
"0000694203" "00020593" "70" "0" "0" "0" "0" "c.-256_*1648{0}" "r.0" "p.0" ""
"0000694891" "00020593" "90" "559" "0" "559" "0" "c.559C>T" "r.(?)" "p.(Arg187*)" ""
"0000694892" "00020593" "90" "219" "0" "219" "0" "c.219del" "r.(?)" "p.(Ala74Profs*10)" ""
"0000694999" "00020593" "90" "" "0" "" "0" "c.-256_*1648{0}" "r.0" "p.0" ""
"0000695000" "00020593" "90" "" "0" "" "0" "c.-256_*1648{0}" "r.0" "p.0" ""
"0000695001" "00020593" "90" "" "0" "" "0" "c.-256_*1648{0}" "r.0" "p.0" ""
"0000695002" "00020593" "90" "" "0" "" "0" "c.-256_*1648{0}" "r.0" "p.0" ""
"0000695003" "00020593" "90" "" "0" "" "0" "c.-256_*1648{0}" "r.0" "p.0" ""
"0000723665" "00020593" "70" "2372" "0" "2372" "0" "c.2372dup" "r.(?)" "p.(Tyr791*)" ""
"0000723666" "00020593" "30" "957" "0" "957" "0" "c.957C>T" "r.(?)" "p.(Cys319=)" ""
"0000805347" "00020593" "30" "1950" "0" "1950" "0" "c.1950T>G" "r.(?)" "p.(Ser650=)" ""
"0000805348" "00020593" "30" "1562" "0" "1562" "0" "c.1562C>T" "r.(?)" "p.(Pro521Leu)" ""
"0000805349" "00020593" "50" "1298" "0" "1298" "0" "c.1298A>G" "r.(?)" "p.(Asn433Ser)" ""
"0000853128" "00020593" "70" "1795" "0" "1795" "0" "c.1795del" "r.(?)" "p.(Glu599Argfs*22)" ""
"0000862666" "00020593" "30" "2267" "0" "2267" "0" "c.2267A>G" "r.(?)" "p.(Asn756Ser)" ""
"0000925489" "00020593" "50" "806" "0" "806" "0" "c.806C>T" "r.(?)" "p.(Ala269Val)" ""
"0000929962" "00020593" "50" "1519" "0" "1519" "0" "c.1519G>A" "r.(?)" "p.(Gly507Arg)" ""
"0000944777" "00020593" "50" "220" "0" "220" "0" "c.220G>A" "r.(?)" "p.(Ala74Thr)" ""
"0000979799" "00020593" "30" "1837" "0" "1839" "0" "c.1837_1839del" "r.(?)" "p.(Lys613del)" ""
"0000979800" "00020593" "50" "1508" "0" "1508" "0" "c.1508C>T" "r.(?)" "p.(Ala503Val)" ""
"0000979801" "00020593" "30" "1019" "0" "1019" "0" "c.1019C>T" "r.(?)" "p.(Ala340Val)" ""
"0000979802" "00020593" "50" "723" "0" "723" "0" "c.723G>A" "r.(?)" "p.(Met241Ile)" ""
"0000979803" "00020593" "90" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220*)" ""
"0000999399" "00020593" "50" "2183" "0" "2185" "0" "c.2183_2185del" "r.(?)" "p.(Ser728del)" ""
"0000999400" "00020593" "30" "1706" "0" "1706" "0" "c.1706C>T" "r.(?)" "p.(Thr569Met)" ""
"0000999401" "00020593" "50" "820" "1" "820" "1" "c.820+1G>A" "r.spl?" "p.?" ""
"0001026063" "00020593" "90" "1183" "0" "1183" "0" "c.1183C>T" "r.(?)" "p.(Arg395*)" ""
"0001038681" "00020593" "50" "2362" "0" "2364" "0" "c.2362_2364del" "r.(?)" "p.(Arg788del)" ""
"0001038682" "00020593" "50" "1618" "0" "1618" "0" "c.1618C>T" "r.(?)" "p.(Arg540Trp)" ""
"0001038683" "00020593" "30" "653" "249" "653" "249" "c.653+249G>A" "r.(=)" "p.(=)" ""
"0001053963" "00020593" "50" "1174" "1068" "1174" "1068" "c.1174+1068A>G" "r.(=)" "p.(=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 17
"{{screeningid}}" "{{variantid}}"
"0000181311" "0000405005"
"0000312563" "0000694167"
"0000312582" "0000694182"
"0000312583" "0000694183"
"0000312584" "0000694184"
"0000312585" "0000694185"
"0000312599" "0000694200"
"0000312600" "0000694201"
"0000312601" "0000694202"
"0000312602" "0000694203"
"0000313157" "0000694891"
"0000313158" "0000694892"
"0000313265" "0000694999"
"0000313266" "0000695000"
"0000313267" "0000695001"
"0000313268" "0000695002"
"0000313269" "0000695003"