### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ZMYND15) # 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}}" "ZMYND15" "zinc finger, MYND-type containing 15" "17" "p13.3" "unknown" "NG_034160.1" "UD_136017667988" "" "https://www.LOVD.nl/ZMYND15" "" "1" "20997" "84225" "614312" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-04-16 11:58:23" "00000" "2024-08-28 13:16:32" ## 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}}" "00025502" "ZMYND15" "transcript variant 1" "005" "NM_001136046.2" "" "NP_001129518.1" "" "" "" "-66" "2358" "2229" "4643310" "4649414" "00006" "2020-04-16 11:59:03" "" "" ## 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}}" "00201" "INFM" "infertility, male (INFM)" "" "" "" "" "" "00006" "2013-09-14 21:03:39" "00006" "2015-12-07 07:11:25" "04102" "SPGF14" "spermatogenic failure, type 14 (SPGF-14)" "AR" "615842" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ZMYND15" "04102" ## Individuals ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00299447" "" "" "" "3" "" "00006" "{PMID:Ayhan 2014:24431330}" "5-generation family, 3 affected brothers" "M" "yes" "Turkey" "" "0" "" "" "" "Fam2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00299447" "00201" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00201, 04102 ## Count = 1 "{{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}}" "0000226757" "00201" "00299447" "00006" "Familial, autosomal recessive" "" "see paper; ..., azoospermia (3/3), spermatogenesis arrest (maturation arrest spermatid stage), spermatogoniums and spermatocytes in phase I and phase II, very few spermatids, no spermiums lumen germ epithelia; tubulus membranes partly normal and partly thickened, , thickening excessive in some regions blocking tubules" "" "" "" "" "" "" "" "SPGF14" "azoospermia" ## Screenings ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000300557" "00299447" "1" "00006" "00006" "2020-04-16 11:56:14" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000300557" "ZMYND15" ## 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 = 11 "{{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}}" "0000320220" "0" "30" "17" "4646695" "4646695" "subst" "0" "01943" "ZMYND15_000001" "g.4646695G>C" "" "" "" "ZMYND15(NM_001267822.1):c.1242G>C (p.P414=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4743400G>C" "" "likely benign" "" "0000562105" "0" "50" "17" "4647966" "4647966" "subst" "0.000150497" "01943" "CXCL16_000001" "g.4647966G>A" "" "" "" "ZMYND15(NM_001136046.3):c.1730G>A (p.R577Q), ZMYND15(NM_001267822.1):c.1730G>A (p.R577Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4744671G>A" "" "VUS" "" "0000663271" "3" "90" "17" "4647509" "4647512" "del" "0" "00006" "ZMYND15_000003" "g.4647509_4647512del" "" "{PMID:Ayhan 2014:24431330}" "" "1520_1523delAACA" "" "Germline" "yes" "" "0" "" "" "g.4744214_4744217del" "" "pathogenic (recessive)" "" "0000726477" "0" "30" "17" "4644008" "4644008" "subst" "0" "01943" "CXCL16_000003" "g.4644008C>G" "" "" "" "ZMYND15(NM_001136046.3):c.165C>G (p.A55=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726478" "0" "50" "17" "4644151" "4644151" "subst" "5.10896E-5" "01943" "CXCL16_000004" "g.4644151A>G" "" "" "" "ZMYND15(NM_001136046.3):c.308A>G (p.Y103C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893992" "0" "50" "17" "4648628" "4648628" "subst" "0.00244927" "02325" "CXCL16_000005" "g.4648628G>A" "" "" "" "ZMYND15(NM_001136046.3):c.2015G>A (p.R672H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914874" "0" "50" "17" "4647966" "4647966" "subst" "0.000150497" "02325" "CXCL16_000001" "g.4647966G>A" "" "" "" "ZMYND15(NM_001136046.3):c.1730G>A (p.R577Q), ZMYND15(NM_001267822.1):c.1730G>A (p.R577Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982583" "0" "50" "17" "4646713" "4646714" "del" "0" "02325" "CXCL16_000006" "g.4646713_4646714del" "" "" "" "ZMYND15(NM_001136046.3):c.1260_1261delCC (p.G422Qfs*79)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982584" "0" "50" "17" "4646716" "4646716" "del" "2.84359E-5" "02325" "CXCL16_000007" "g.4646716del" "" "" "" "ZMYND15(NM_001136046.3):c.1263delA (p.G422Afs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003360" "0" "30" "17" "4641742" "4641742" "subst" "0.000134035" "01804" "CXCL16_000008" "g.4641742G>C" "" "" "" "CXCL16(NM_001100812.1):c.319C>G (p.(Pro107Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003361" "0" "30" "17" "4642637" "4642637" "subst" "0.000698965" "01804" "CXCL16_000009" "g.4642637C>T" "" "" "" "CXCL16(NM_001100812.1):c.55G>A (p.(Glu19Lys))" "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 ZMYND15 ## Count = 11 "{{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}}" "0000320220" "00025502" "30" "1242" "0" "1242" "0" "c.1242G>C" "r.(?)" "p.(Pro414=)" "" "0000562105" "00025502" "50" "1730" "0" "1730" "0" "c.1730G>A" "r.(?)" "p.(Arg577Gln)" "" "0000663271" "00025502" "90" "1520" "0" "1523" "0" "c.1520_1523del" "r.(?)" "p.(Lys507Serfs*3)" "" "0000726477" "00025502" "30" "165" "0" "165" "0" "c.165C>G" "r.(?)" "p.(Ala55=)" "" "0000726478" "00025502" "50" "308" "0" "308" "0" "c.308A>G" "r.(?)" "p.(Tyr103Cys)" "" "0000893992" "00025502" "50" "2015" "0" "2015" "0" "c.2015G>A" "r.(?)" "p.(Arg672His)" "" "0000914874" "00025502" "50" "1730" "0" "1730" "0" "c.1730G>A" "r.(?)" "p.(Arg577Gln)" "" "0000982583" "00025502" "50" "1260" "0" "1261" "0" "c.1260_1261del" "r.(?)" "p.(Gly422Glnfs*79)" "" "0000982584" "00025502" "50" "1263" "0" "1263" "0" "c.1263del" "r.(?)" "p.(Gly422Alafs*25)" "" "0001003360" "00025502" "30" "-1634" "0" "-1634" "0" "c.-1634G>C" "r.(?)" "p.(=)" "" "0001003361" "00025502" "30" "-739" "0" "-739" "0" "c.-739C>T" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000300557" "0000663271"