### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = AMHR2) # 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}}" "AMHR2" "anti-Mullerian hormone receptor, type II" "12" "q13" "unknown" "NG_015981.1" "UD_132119120764" "" "http://www.LOVD.nl/AMHR2" "" "1" "465" "269" "600956" "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/AMHR2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2016-10-14 13:13:33" "00000" "2022-11-01 13:01:21" ## 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}}" "00002430" "AMHR2" "transcript variant 1" "001" "NM_020547.2" "" "NP_065434.1" "" "" "" "-80" "1783" "1722" "53817639" "53825318" "" "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}}" "02007" "PMDS" "Mullerian duct syndrome. persistent, types I and II (PMDS)" "AR" "261550" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04187" "POF" "ovarian failure, premature (POF)" "" "" "" "" "" "00006" "2015-02-14 15:50:12" "00006" "2015-12-08 23:53:05" "05155" "OPLL" "ossification, posterior longitudinal ligament spine (OPLL)" "" "" "" "" "" "00006" "2016-04-14 16:02:41" "" "" "05597" "DSD" "disorder of sex development (DSD)" "" "" "" "" "" "00006" "2019-04-28 14:45:24" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "AMHR2" "02007" ## 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}}" "00073649" "" "" "" "1" "" "01666" "{PMID:Li 2016:27430550}" "" "F" "no" "China" "" "0" "" "" "Chinese" "" "00073650" "" "" "" "1" "" "01666" "{PMID:Qin 2014:24912417}, {PMID:Li 2016:27430550}" "" "F" "-" "China" "" "0" "" "" "Chinese" "" "00073651" "" "" "" "1" "" "01666" "{PMID:Qin 2014:24912417}, {PMID:Li 2016:27430550}" "" "F" "-" "China" "" "0" "" "" "Chinese" "" "00081432" "" "" "" "1" "" "01783" "" "" "" "" "China" "" "0" "" "" "Han" "" "00231506" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "" "" "" "" "0" "" "" "" "Pat184" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00073649" "04187" "00073650" "04187" "00073651" "04187" "00081432" "05155" "00231506" "05597" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 02007, 04187, 05155, 05597 ## Count = 5 "{{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}}" "0000053385" "04187" "00073649" "01666" "Unknown" "" "secondary amenorrhea (HP:0000869), FSH=124 IU/L" "" "" "" "" "" "" "" "" "" "0000053394" "04187" "00073650" "01666" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "0000053395" "04187" "00073651" "01666" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "0000061034" "05155" "00081432" "01783" "Unknown" "" "thoracic ossification of the ligamentum flavum;\r\nlong regional at the thoracic spine" "" "" "" "" "" "" "" "" "" "0000173897" "05597" "00231506" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" ## 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}}" "0000073808" "00073649" "1" "01666" "01666" "2016-06-13 12:57:56" "" "" "PCR;SEQ-NG-I" "DNA" "Blood" "" "0000073809" "00073650" "1" "01666" "01666" "2016-06-13 13:20:49" "" "" "PCR" "DNA" "Blood" "" "0000073810" "00073651" "1" "01666" "01666" "2016-06-13 13:37:16" "" "" "PCR" "DNA" "Blood" "" "0000081564" "00081432" "1" "01783" "01783" "2016-10-14 03:33:36" "" "" "SEQ-NG" "DNA" "blood" "" "0000232605" "00231506" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000073808" "AMHR2" "0000073809" "AMHR2" "0000073810" "AMHR2" "0000081564" "AMHR2" "0000232605" "AMHR2" ## 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 = 27 "{{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}}" "0000117522" "0" "10" "12" "53818072" "53818072" "subst" "2.43696E-5" "01666" "AMHR2_000001" "g.53818072C>A" "" "{PMID:Li 2016:27430550}," "" "A17E" "effect on splicing?" "Germline" "?" "" "0" "" "" "g.53424288C>A" "" "benign" "" "0000117523" "0" "90" "12" "53819477" "53819477" "subst" "0" "01666" "AMHR2_000002" "g.53819477T>A" "" "{PMID:Qin 2014:24912417}, {PMID:Li 2016:27430550}" "" "627T>A (I209N)" "variant description incorrect" "Germline" "?" "" "0" "" "" "g.53425693T>A" "" "pathogenic" "" "0000117524" "0" "10" "12" "53823329" "53823329" "subst" "0" "01666" "AMHR2_000003" "g.53823329C>T" "" "{PMID:Qin 2014:24912417}, {PMID:Li 2016:27430550}" "" "L354F" "" "Germline" "?" "" "0" "" "" "g.53429545C>T" "" "benign" "" "0000132227" "0" "50" "12" "53825609" "53825609" "subst" "0" "01783" "AMHR2_000004" "g.53825609C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.53431825C>T" "" "VUS" "" "0000132259" "0" "10" "12" "53818072" "53818072" "subst" "2.43696E-5" "00006" "AMHR2_000001" "g.53818072C>A" "" "{PMID:Li 2016:27430550}, {DOI:Li 2016:10.1093/molehr/gaw040}" "" "" "cDNA expression cloning, near normal activation ID3/SMAD6 transcription" "In vitro (cloned)" "-" "" "0" "" "" "g.53424288C>A" "" "NA" "" "0000132260" "0" "10" "12" "53823329" "53823329" "subst" "0" "00006" "AMHR2_000003" "g.53823329C>T" "" "{PMID:Li 2016:27430550}, {DOI:Li 2016:10.1093/molehr/gaw040}" "" "L354F" "cDNA expression cloning, near normal activation ID3/SMAD6 transcription" "In vitro (cloned)" "-" "" "0" "" "" "g.53429545C>T" "" "NA" "" "0000132261" "0" "90" "12" "53819477" "53819477" "subst" "0" "00006" "AMHR2_000002" "g.53819477T>A" "" "{PMID:Li 2016:27430550}, {DOI:Li 2016:10.1093/molehr/gaw040}" "" "I209N" "cDNA expression cloning, absent activation ID3/SMAD6 transcription (dominant negative effect)" "In vitro (cloned)" "-" "" "0" "" "" "g.53425693T>A" "" "NA" "" "0000251509" "0" "10" "12" "53823188" "53823188" "del" "0" "02326" "AMHR2_000011" "g.53823188del" "" "" "" "AMHR2(NM_020547.3):c.968-49delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53429404del" "" "benign" "" "0000260835" "0" "50" "12" "53823887" "53823887" "subst" "0.000227407" "02326" "AMHR2_000013" "g.53823887C>A" "" "" "" "AMHR2(NM_020547.3):c.1289-43C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53430103C>A" "" "VUS" "" "0000260836" "0" "70" "12" "53825008" "53825008" "subst" "0" "02326" "AMHR2_000014" "g.53825008C>G" "" "" "" "AMHR2(NM_020547.3):c.1473C>G (p.D491E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53431224C>G" "" "likely pathogenic" "" "0000260837" "0" "70" "12" "53825046" "53825046" "subst" "4.06121E-6" "02326" "AMHR2_000015" "g.53825046G>A" "" "" "" "AMHR2(NM_020547.3):c.1511G>A (p.R504H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53431262G>A" "" "likely pathogenic" "" "0000260838" "0" "70" "12" "53819426" "53819426" "subst" "0.000221985" "02326" "AMHR2_000006" "g.53819426C>T" "" "" "" "AMHR2(NM_020547.3):c.622-47C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53425642C>T" "" "likely pathogenic" "" "0000260839" "0" "10" "12" "53819467" "53819467" "subst" "0.169555" "02326" "AMHR2_000007" "g.53819467C>T" "" "" "" "AMHR2(NM_020547.3):c.622-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53425683C>T" "" "benign" "" "0000260840" "0" "50" "12" "53819758" "53819758" "subst" "0" "02326" "AMHR2_000008" "g.53819758G>A" "" "" "" "AMHR2(NM_020547.3):c.852+55G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53425974G>A" "" "VUS" "" "0000260841" "0" "50" "12" "53818114" "53818114" "subst" "4.06091E-6" "02326" "AMHR2_000005" "g.53818114G>T" "" "" "" "AMHR2(NM_020547.3):c.92G>T (p.G31V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53424330G>T" "" "VUS" "" "0000260842" "0" "10" "12" "53823187" "53823190" "del" "0" "02326" "AMHR2_000012" "g.53823187_53823190del" "" "" "" "AMHR2(NM_020547.3):c.968-50_968-47delAAGA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53429403_53429406del" "" "benign" "" "0000262438" "0" "10" "12" "53819467" "53819467" "subst" "0.169555" "01943" "AMHR2_000007" "g.53819467C>T" "" "" "" "AMHR2(NM_020547.3):c.622-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53425683C>T" "" "benign" "" "0000262439" "0" "30" "12" "53822730" "53822730" "subst" "0.00061152" "01943" "AMHR2_000009" "g.53822730C>T" "" "" "" "AMHR2(NM_020547.3):c.903C>T (p.S301=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53428946C>T" "" "likely benign" "" "0000474936" "3" "70" "12" "53818497" "53818497" "subst" "0" "00006" "AMHR2_000016" "g.53818497C>G" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.53424713C>G" "" "likely pathogenic" "" "0000548630" "0" "10" "12" "53822670" "53822670" "subst" "0.169439" "02326" "AMHR2_000017" "g.53822670G>A" "" "" "" "AMHR2(NM_020547.3):c.853-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53428886G>A" "" "benign" "" "0000548631" "0" "10" "12" "53823188" "53823188" "dup" "0" "02326" "AMHR2_000018" "g.53823188dup" "" "" "" "AMHR2(NM_020547.3):c.968-49dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53429404dup" "" "benign" "" "0000622936" "0" "90" "12" "53823973" "53823999" "del" "0" "01943" "AMHR2_000019" "g.53823973_53823999del" "" "" "" "AMHR2(NM_020547.3):c.1332_1358delGGGCAATACCCCTACCTCTGATGAGCT (p.G445_L453del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53430189_53430215del" "" "pathogenic" "" "0000691381" "0" "30" "12" "53819697" "53819697" "subst" "8.16593E-5" "01943" "AMHR2_000020" "g.53819697T>G" "" "" "" "AMHR2(NM_020547.3):c.846T>G (p.H282Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724139" "0" "50" "12" "53822734" "53822734" "subst" "0.000125015" "01943" "AMHR2_000021" "g.53822734C>T" "" "" "" "AMHR2(NM_020547.3):c.907C>T (p.R303W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853458" "0" "30" "12" "53818971" "53818971" "subst" "8.12632E-6" "01943" "AMHR2_000022" "g.53818971G>A" "" "" "" "AMHR2(NM_020547.3):c.447G>A (p.L149=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853459" "0" "30" "12" "53819305" "53819305" "subst" "8.14657E-6" "01943" "AMHR2_000023" "g.53819305G>A" "" "" "" "AMHR2(NM_020547.3):c.569G>A (p.G190D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890689" "0" "90" "12" "53819626" "53819626" "subst" "4.06276E-6" "02326" "AMHR2_000024" "g.53819626C>T" "" "" "" "AMHR2(NM_020547.3):c.775C>T (p.R259*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## 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 AMHR2 ## Count = 27 "{{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}}" "0000117522" "00002430" "10" "50" "0" "50" "0" "c.50C>A" "r.(50c>a)" "p.(Ala17Glu)" "2" "0000117523" "00002430" "90" "626" "0" "626" "0" "c.626T>A" "r.(?)" "p.(Ile209Asn)" "6" "0000117524" "00002430" "10" "1060" "0" "1060" "0" "c.1060C>T" "r.(?)" "p.(Leu354Phe)" "8" "0000132227" "00002430" "50" "2074" "0" "2074" "0" "c.*352C>T" "r.(*352c>u)" "p.(=)" "11_" "0000132259" "00002430" "10" "50" "0" "50" "0" "c.50C>A" "r.(?)" "p.Ala17Glu" "2" "0000132260" "00002430" "10" "1060" "0" "1060" "0" "c.1060C>T" "r.(?)" "p.(Leu354Phe)" "8" "0000132261" "00002430" "90" "626" "0" "626" "0" "c.626T>A" "r.(?)" "p.(Ile209Asn)" "6" "0000251509" "00002430" "10" "968" "-49" "968" "-49" "c.968-49del" "r.(=)" "p.(=)" "" "0000260835" "00002430" "50" "1289" "-43" "1289" "-43" "c.1289-43C>A" "r.(=)" "p.(=)" "" "0000260836" "00002430" "70" "1473" "0" "1473" "0" "c.1473C>G" "r.(?)" "p.(Asp491Glu)" "" "0000260837" "00002430" "70" "1511" "0" "1511" "0" "c.1511G>A" "r.(?)" "p.(Arg504His)" "" "0000260838" "00002430" "70" "622" "-47" "622" "-47" "c.622-47C>T" "r.(=)" "p.(=)" "" "0000260839" "00002430" "10" "622" "-6" "622" "-6" "c.622-6C>T" "r.(=)" "p.(=)" "" "0000260840" "00002430" "50" "852" "55" "852" "55" "c.852+55G>A" "r.(=)" "p.(=)" "" "0000260841" "00002430" "50" "92" "0" "92" "0" "c.92G>T" "r.(?)" "p.(Gly31Val)" "" "0000260842" "00002430" "10" "968" "-50" "968" "-47" "c.968-50_968-47del" "r.(=)" "p.(=)" "" "0000262438" "00002430" "10" "622" "-6" "622" "-6" "c.622-6C>T" "r.(=)" "p.(=)" "" "0000262439" "00002430" "30" "903" "0" "903" "0" "c.903C>T" "r.(?)" "p.(Ser301=)" "" "0000474936" "00002430" "70" "237" "0" "237" "0" "c.237C>G" "r.(?)" "p.(Cys79Trp)" "" "0000548630" "00002430" "10" "853" "-10" "853" "-10" "c.853-10G>A" "r.(=)" "p.(=)" "" "0000548631" "00002430" "10" "968" "-49" "968" "-49" "c.968-49dup" "r.(=)" "p.(=)" "" "0000622936" "00002430" "90" "1332" "0" "1358" "0" "c.1332_1358del" "r.(?)" "p.(Gly445_Leu453del)" "" "0000691381" "00002430" "30" "846" "0" "846" "0" "c.846T>G" "r.(?)" "p.(His282Gln)" "" "0000724139" "00002430" "50" "907" "0" "907" "0" "c.907C>T" "r.(?)" "p.(Arg303Trp)" "" "0000853458" "00002430" "30" "447" "0" "447" "0" "c.447G>A" "r.(?)" "p.(Leu149=)" "" "0000853459" "00002430" "30" "569" "0" "569" "0" "c.569G>A" "r.(?)" "p.(Gly190Asp)" "" "0000890689" "00002430" "90" "775" "0" "775" "0" "c.775C>T" "r.(?)" "p.(Arg259*)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000073808" "0000117522" "0000073809" "0000117523" "0000073810" "0000117524" "0000081564" "0000132227" "0000232605" "0000474936"