### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ZNF674) # 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}}" "ZNF674" "zinc finger protein 674" "X" "p11.3" "unknown" "NG_023376.2" "UD_132118976483" "" "https://www.LOVD.nl/ZNF674" "" "1" "17625" "641339" "300573" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/ZNF674_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2020-05-11 17:05:14" "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}}" "00000488" "ZNF674" "transcript variant 1" "003" "NM_001039891.2" "" "NP_001034980.1" "" "" "" "-227" "3864" "1746" "46357160" "46404892" "00000" "2012-09-13 12:23:12" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{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" "01120" "MRX92" "mental retardation, X-linked, type 92 (MRX92)" "XLR" "300851" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-05-11 17:04:55" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02534" "WDSTS" "Wiedemann-Steiner syndrome" "PG" "605130" "" "thick eyebrows, synophrys and thick eyelashes with vertically narrow and down-slanting palpebral fissures.  \r\nglobal developmental delay (HP:0001263); intellectual disability (HP:0001249); seizure (HP:0001250); hypotonia (HP:0001252); short stature (HP:0004322); no obesity (-HP:0001513); digital abnormalities (HP_0011297); hypertrichosis over their forearms, legs and back" "" "00006" "2014-09-25 23:29:40" "00006" "2023-01-03 20:54:56" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ZNF674" "00139" "ZNF674" "01120" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00056297" "" "" "" "2" "" "01482" "{PMID:Calvel 2015:26544196}" "2-generation family, affected boy and brother (different variants/phenotypes)" "F" "" "Poland" "" "0" "" "" "" "" "00295063" "" "" "" "0" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305305" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00056297" "00198" "00056297" "02534" "00295063" "00198" "00305305" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 01120, 01157, 02534 ## Count = 4 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Growth/Height_SDS}}" "{{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}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "" "3w" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000042920" "02534" "00056297" "01482" "Familial, autosomal dominant" "07y06m" "Intrauterine growth retardation\r\nPostnatal growth retardation\r\nShort palpebral fissures\r\nHypertelorism\r\nEpicanthus\r\nWide nasal bridge/broad nasal tip\r\nMicrognathia\r\nRib anomalies\r\nDelayed bone age\r\nConstipation\r\nLow hair line\r\nDevelopmental delay\r\nIntellectual disability\r\nHypotonia\r\nAmbiguous genitalia\r\nDiscordance between gender and karyotype\r\nAbnormal gonadal development\r\nNormal TSH, T4, GH, LH, high FSH, E2, low T levels" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000042953" "00198" "00056297" "00006" "Unknown" "" "46,XY sexual development (DSD), complete gonadal dysgenes" "" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000056248" "00056297" "1" "01482" "01482" "2015-12-09 15:04:31" "00006" "2015-12-11 12:57:47" "SEQ-NG" "DNA" "" "" "0000296231" "00295063" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306434" "00305305" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000056248" "KMT2A" "0000056248" "NRROS" "0000056248" "ZNF674" ## 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 = 39 "{{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}}" "0000006670" "20" "50" "X" "46358589" "46358589" "subst" "0" "00037" "ZNF674_000001" "g.46358589A>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.46499154A>C" "" "VUS" "" "0000006671" "20" "50" "X" "46387921" "46387921" "subst" "0.28332" "00037" "ZNF674_000002" "g.46387921G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.46528486G>A" "" "VUS" "" "0000006672" "20" "50" "X" "46388442" "46388442" "subst" "0" "00037" "ZNF674_000005" "g.46388442G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.46529007G>A" "" "VUS" "" "0000006673" "20" "50" "X" "46388458" "46388458" "subst" "0" "00037" "ZNF674_000008" "g.46388458T>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.46529023T>G" "" "VUS" "" "0000006674" "20" "50" "X" "46388656" "46388656" "subst" "0" "00037" "ZNF674_000011" "g.46388656C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.46529221C>T" "" "VUS" "" "0000006675" "20" "50" "X" "46389805" "46389805" "subst" "0" "00037" "ZNF674_000015" "g.46389805G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.46530370G>T" "" "VUS" "" "0000008728" "20" "50" "X" "46387921" "46387921" "subst" "0.28332" "00037" "ZNF674_000002" "g.46387921G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.46528486G>A" "" "VUS" "" "0000008729" "20" "50" "X" "46388442" "46388442" "subst" "0" "00037" "ZNF674_000005" "g.46388442G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.46529007G>A" "" "VUS" "" "0000008730" "20" "50" "X" "46388458" "46388458" "subst" "0" "00037" "ZNF674_000008" "g.46388458T>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.46529023T>G" "" "VUS" "" "0000008731" "20" "50" "X" "46388656" "46388656" "subst" "0" "00037" "ZNF674_000011" "g.46388656C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.46529221C>T" "" "VUS" "" "0000008732" "20" "50" "X" "46389805" "46389805" "subst" "0" "00037" "ZNF674_000015" "g.46389805G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.46530370G>T" "" "VUS" "" "0000010908" "0" "50" "X" "46389103" "46389103" "del" "0" "00037" "ZNF674_000018" "g.46389103del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.46529668del" "" "VUS" "" "0000086527" "21" "90" "X" "46360423" "46360423" "subst" "0.00374035" "00006" "ZNF674_000019" "g.46360423G>A" "" "{PMID:Calvel 2015:26544196}" "" "C601T" "variant not associated to a phenotype" "Germline" "" "" "0" "" "" "g.46500988G>A" "" "pathogenic" "" "0000313170" "0" "30" "X" "46360423" "46360423" "subst" "0.00374035" "02325" "ZNF674_000019" "g.46360423G>A" "" "" "" "ZNF674(NM_001039891.2):c.601C>T (p.R201*, p.(Arg201*)), ZNF674(NM_001039891.3):c.601C>T (p.R201*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46500988G>A" "" "likely benign" "" "0000320327" "0" "50" "X" "46359846" "46359846" "subst" "0.00213597" "01943" "ZNF674_000020" "g.46359846C>T" "" "" "" "ZNF674(NM_001039891.2):c.1178G>A (p.S393N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46500411C>T" "" "VUS" "" "0000320328" "0" "30" "X" "46360753" "46360753" "subst" "7.59377E-5" "01943" "ZNF674_000028" "g.46360753C>T" "" "" "" "ZNF674(NM_001039891.2):c.271G>A (p.E91K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46501318C>T" "" "likely benign" "" "0000320329" "0" "50" "X" "46360347" "46360347" "subst" "2.16766E-5" "01943" "ZNF674_000026" "g.46360347C>T" "" "" "" "ZNF674(NM_001039891.2):c.677G>A (p.C226Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46500912C>T" "" "VUS" "" "0000320330" "0" "50" "X" "46360317" "46360317" "subst" "0.00434863" "01943" "ZNF674_000025" "g.46360317T>C" "" "" "" "ZNF674(NM_001039891.2):c.707A>G (p.K236R, p.(Lys236Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46500882T>C" "" "VUS" "" "0000320331" "0" "50" "X" "46360303" "46360303" "subst" "3.62311E-5" "01943" "ZNF674_000024" "g.46360303C>G" "" "" "" "ZNF674(NM_001039891.2):c.721G>C (p.V241L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46500868C>G" "" "VUS" "" "0000320332" "0" "30" "X" "46360283" "46360283" "subst" "4.92642E-5" "01943" "ZNF674_000023" "g.46360283G>A" "" "" "" "ZNF674(NM_001039891.2):c.741C>T (p.T247=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46500848G>A" "" "likely benign" "" "0000333852" "0" "30" "X" "46359940" "46359940" "subst" "0.000224786" "01804" "ZNF674_000021" "g.46359940G>T" "" "" "" "ZNF674(NM_001039891.2):c.1084C>A (p.H362N, p.(His362Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46500505G>T" "" "likely benign" "" "0000333853" "0" "50" "X" "46360125" "46360125" "subst" "0.00105551" "01804" "ZNF674_000022" "g.46360125C>T" "" "" "" "ZNF674(NM_001039891.2):c.899G>A (p.R300Q, p.(Arg300Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46500690C>T" "" "VUS" "" "0000333855" "0" "30" "X" "46360317" "46360317" "subst" "0.00434863" "01804" "ZNF674_000025" "g.46360317T>C" "" "" "" "ZNF674(NM_001039891.2):c.707A>G (p.K236R, p.(Lys236Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46500882T>C" "" "likely benign" "" "0000333857" "0" "30" "X" "46360423" "46360423" "subst" "0.00374035" "01804" "ZNF674_000019" "g.46360423G>A" "" "" "" "ZNF674(NM_001039891.2):c.601C>T (p.R201*, p.(Arg201*)), ZNF674(NM_001039891.3):c.601C>T (p.R201*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46500988G>A" "" "likely benign" "" "0000346488" "0" "50" "X" "46359564" "46359564" "subst" "2.80573E-5" "02327" "ZNF674_000029" "g.46359564T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46500129T>C" "" "VUS" "" "0000576058" "0" "30" "X" "46359638" "46359638" "subst" "0" "02325" "ZNF674_000030" "g.46359638C>A" "" "" "" "ZNF674(NM_001039891.3):c.1386G>T (p.M462I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46500203C>A" "" "likely benign" "" "0000576060" "0" "30" "X" "46359781" "46359781" "subst" "1.68234E-5" "01943" "ZNF674_000032" "g.46359781A>T" "" "" "" "ZNF674(NM_001039891.2):c.1243T>A (p.C415S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46500346A>T" "" "likely benign" "" "0000576063" "0" "10" "X" "46360125" "46360125" "subst" "0.00105551" "01943" "ZNF674_000022" "g.46360125C>T" "" "" "" "ZNF674(NM_001039891.2):c.899G>A (p.R300Q, p.(Arg300Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46500690C>T" "" "benign" "" "0000576064" "0" "30" "X" "46360126" "46360126" "subst" "4.49302E-5" "01804" "ZNF674_000035" "g.46360126G>A" "" "" "" "ZNF674(NM_001039891.2):c.898C>T (p.(Arg300Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46500691G>A" "" "likely benign" "" "0000576067" "0" "30" "X" "46388286" "46388286" "subst" "0.000599339" "01943" "ZNF674_000038" "g.46388286A>C" "" "" "" "ZNF674(NM_001039891.2):c.74T>G (p.L25R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46528851A>C" "" "likely benign" "" "0000624626" "0" "50" "X" "46359432" "46359432" "subst" "0" "01943" "ZNF674_000039" "g.46359432C>A" "" "" "" "ZNF674(NM_001039891.2):c.1592G>T (p.G531V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46499997C>A" "" "VUS" "" "0000652920" "1" "10" "X" "46360125" "46360125" "subst" "0.00105551" "03575" "ZNF674_000022" "g.46360125C>T" "0/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs187237351}" "Germline" "" "rs187237351" "0" "" "" "g.46500690C>T" "" "benign" "" "0000659312" "0" "10" "X" "46359940" "46359940" "subst" "0.000224786" "01943" "ZNF674_000021" "g.46359940G>T" "" "" "" "ZNF674(NM_001039891.2):c.1084C>A (p.H362N, p.(His362Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46500505G>T" "" "benign" "" "0000659313" "0" "30" "X" "46360038" "46360038" "subst" "1.68264E-5" "01943" "ZNF674_000040" "g.46360038G>A" "" "" "" "ZNF674(NM_001039891.2):c.986C>T (p.T329I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46500603G>A" "" "likely benign" "" "0000670122" "0" "10" "X" "46360125" "46360125" "subst" "0.00105551" "03575" "ZNF674_000022" "g.46360125C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "no heterozygous ; {DB:CLININrs187237351}" "Germline" "" "rs187237351" "0" "" "" "g.46500690C>T" "" "benign" "" "0000810402" "0" "30" "X" "46360423" "46360423" "subst" "0.00374035" "01943" "ZNF674_000019" "g.46360423G>A" "" "" "" "ZNF674(NM_001039891.2):c.601C>T (p.R201*, p.(Arg201*)), ZNF674(NM_001039891.3):c.601C>T (p.R201*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810403" "0" "30" "X" "46387831" "46387831" "subst" "5.03561E-5" "01943" "ZNF674_000041" "g.46387831G>C" "" "" "" "ZNF674(NM_001039891.2):c.192C>G (p.D64E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984695" "0" "30" "X" "46359331" "46359331" "subst" "0.000163732" "01804" "ZNF674_000042" "g.46359331T>G" "" "" "" "ZNF674(NM_001190417.2):c.1678A>C (p.(Lys560Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044346" "0" "50" "X" "46388323" "46388323" "subst" "5.59378E-6" "01804" "ZNF674_000043" "g.46388323C>T" "" "" "" "ZNF674(NM_001190417.2):c.37G>A (p.(Val13Met))" "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 ZNF674 ## Count = 39 "{{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}}" "0000006670" "00000488" "50" "2435" "0" "2435" "0" "c.*689T>G" "r.(=)" "p.(=)" "" "0000006671" "00000488" "50" "143" "-41" "143" "-41" "c.143-41C>T" "r.(=)" "p.(=)" "" "0000006672" "00000488" "50" "16" "-98" "16" "-98" "c.16-98C>T" "r.(=)" "p.(=)" "" "0000006673" "00000488" "50" "16" "-114" "16" "-114" "c.16-114A>C" "r.(=)" "p.(=)" "" "0000006674" "00000488" "50" "16" "-312" "16" "-312" "c.16-312G>A" "r.(=)" "p.(=)" "" "0000006675" "00000488" "50" "16" "-1461" "16" "-1461" "c.16-1461C>A" "r.(=)" "p.(=)" "" "0000008728" "00000488" "50" "143" "-41" "143" "-41" "c.143-41C>T" "r.(=)" "p.(=)" "" "0000008729" "00000488" "50" "16" "-98" "16" "-98" "c.16-98C>T" "r.(=)" "p.(=)" "" "0000008730" "00000488" "50" "16" "-114" "16" "-114" "c.16-114A>C" "r.(=)" "p.(=)" "" "0000008731" "00000488" "50" "16" "-312" "16" "-312" "c.16-312G>A" "r.(=)" "p.(=)" "" "0000008732" "00000488" "50" "16" "-1461" "16" "-1461" "c.16-1461C>A" "r.(=)" "p.(=)" "" "0000010908" "00000488" "50" "16" "-759" "16" "-759" "c.16-759del" "r.(=)" "p.(=)" "" "0000086527" "00000488" "90" "601" "0" "601" "0" "c.601C>T" "r.(?)" "p.(Arg201*)" "6" "0000313170" "00000488" "30" "601" "0" "601" "0" "c.601C>T" "r.(?)" "p.(Arg201Ter)" "" "0000320327" "00000488" "50" "1178" "0" "1178" "0" "c.1178G>A" "r.(?)" "p.(Ser393Asn)" "" "0000320328" "00000488" "30" "271" "0" "271" "0" "c.271G>A" "r.(?)" "p.(Glu91Lys)" "" "0000320329" "00000488" "50" "677" "0" "677" "0" "c.677G>A" "r.(?)" "p.(Cys226Tyr)" "" "0000320330" "00000488" "50" "707" "0" "707" "0" "c.707A>G" "r.(?)" "p.(Lys236Arg)" "" "0000320331" "00000488" "50" "721" "0" "721" "0" "c.721G>C" "r.(?)" "p.(Val241Leu)" "" "0000320332" "00000488" "30" "741" "0" "741" "0" "c.741C>T" "r.(?)" "p.(Thr247=)" "" "0000333852" "00000488" "30" "1084" "0" "1084" "0" "c.1084C>A" "r.(?)" "p.(His362Asn)" "" "0000333853" "00000488" "50" "899" "0" "899" "0" "c.899G>A" "r.(?)" "p.(Arg300Gln)" "" "0000333855" "00000488" "30" "707" "0" "707" "0" "c.707A>G" "r.(?)" "p.(Lys236Arg)" "" "0000333857" "00000488" "30" "601" "0" "601" "0" "c.601C>T" "r.(?)" "p.(Arg201Ter)" "" "0000346488" "00000488" "50" "1460" "0" "1460" "0" "c.1460A>G" "r.(?)" "p.(His487Arg)" "" "0000576058" "00000488" "30" "1386" "0" "1386" "0" "c.1386G>T" "r.(?)" "p.(Met462Ile)" "" "0000576060" "00000488" "30" "1243" "0" "1243" "0" "c.1243T>A" "r.(?)" "p.(Cys415Ser)" "" "0000576063" "00000488" "10" "899" "0" "899" "0" "c.899G>A" "r.(?)" "p.(Arg300Gln)" "" "0000576064" "00000488" "30" "898" "0" "898" "0" "c.898C>T" "r.(?)" "p.(Arg300Ter)" "" "0000576067" "00000488" "30" "74" "0" "74" "0" "c.74T>G" "r.(?)" "p.(Leu25Arg)" "" "0000624626" "00000488" "50" "1592" "0" "1592" "0" "c.1592G>T" "r.(?)" "p.(Gly531Val)" "" "0000652920" "00000488" "10" "899" "0" "899" "0" "c.899G>A" "r.(?)" "p.(Arg300Gln)" "" "0000659312" "00000488" "10" "1084" "0" "1084" "0" "c.1084C>A" "r.(?)" "p.(His362Asn)" "" "0000659313" "00000488" "30" "986" "0" "986" "0" "c.986C>T" "r.(?)" "p.(Thr329Ile)" "" "0000670122" "00000488" "10" "899" "0" "899" "0" "c.899G>A" "r.(?)" "p.(Arg300Gln)" "" "0000810402" "00000488" "30" "601" "0" "601" "0" "c.601C>T" "r.(?)" "p.(Arg201Ter)" "" "0000810403" "00000488" "30" "192" "0" "192" "0" "c.192C>G" "r.(?)" "p.(Asp64Glu)" "" "0000984695" "00000488" "30" "1693" "0" "1693" "0" "c.1693A>C" "r.(?)" "p.(Lys565Gln)" "" "0001044346" "00000488" "50" "37" "0" "37" "0" "c.37G>A" "r.(?)" "p.(Val13Met)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{variantid}}" "0000000209" "0000006670" "0000000209" "0000006671" "0000000209" "0000006672" "0000000209" "0000006673" "0000000209" "0000006674" "0000000209" "0000006675" "0000000210" "0000008728" "0000000210" "0000008729" "0000000210" "0000008730" "0000000210" "0000008731" "0000000210" "0000008732" "0000000210" "0000010908" "0000056248" "0000086527" "0000296231" "0000652920" "0000306434" "0000670122"