### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ADCY3) # 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}}" "ADCY3" "adenylate cyclase 3" "2" "p24-p22" "unknown" "NC_000002.11" "UD_132378865643" "" "https://www.LOVD.nl/ADCY3" "" "1" "234" "109" "600291" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/ADCY3_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2018-03-18 12:55:10" "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}}" "00001441" "ADCY3" "adenylate cyclase 3" "001" "NM_004036.3" "" "NP_004027.2" "" "" "" "-199" "4198" "3435" "25042038" "25142055" "00000" "2012-09-13 13:33:46" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00259" "obesity" "obesity, susceptibility to (incl. leanness)" "AD;AR;Mu" "601665" "" "" "" "00006" "2013-10-28 15:05:17" "00006" "2022-01-13 16:46:00" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "06471" "BMIQ19" "{Obesity, susceptibility to, BMIQ19}" "AR" "617885" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ADCY3" "00259" "ADCY3" "06471" ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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" "" "" "" "" "00155227" "" "" "" "1" "" "00006" "{PMID:Saeed 2018:29311637}" "3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "yes" "Pakistan" "" "0" "" "" "Punjab" "29311637-Fam1" "00155228" "" "" "" "1" "" "00006" "{PMID:Saeed 2018:29311637}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "Punjab" "29311637-Fam2" "00155229" "" "" "" "1" "" "00006" "{PMID:Saeed 2018:29311637}" "3-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "29311637-Fam3" "00155230" "" "" "" "1" "" "00006" "{PMID:Saeed 2018:29311637}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "no" "United States" "" "0" "" "" "European" "29311637-Fam4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00155227" "00259" "00155228" "00259" "00155229" "00259" "00155230" "00259" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00259, 01157, 06471 ## Count = 6 "{{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}}" "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" "" "" "" "" "" "" "" "0000127755" "00259" "00155227" "00006" "Familial, autosomal recessive" "" "severe, early-onset obesity (BMI score ≥3)" "" "" "" "" "" "" "" "" "obesity" "0000127756" "00259" "00155228" "00006" "Familial, autosomal recessive" "" "severe, early-onset obesity" "" "" "" "" "" "" "" "" "obesity" "0000127757" "00259" "00155229" "00006" "Familial, autosomal recessive" "" "severe, early-onset obesity" "" "" "" "" "" "" "" "" "obesity" "0000127758" "00259" "00155230" "00006" "Familial, autosomal recessive" "" "severe, early-onset obesity" "" "" "" "" "" "" "" "" "obesity" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{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" "" "" "0000156091" "00155227" "1" "00006" "00006" "2018-03-18 13:02:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000156092" "00155228" "1" "00006" "00006" "2018-03-18 13:06:48" "" "" "SEQ;SEQ-NG" "DNA" "" "wes" "0000156093" "00155229" "1" "00006" "00006" "2018-03-18 13:11:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000156094" "00155230" "1" "00006" "00006" "2018-03-18 13:15:55" "" "" "SEQ" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 45 "{{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}}" "0000003633" "3" "50" "2" "25130542" "25130542" "subst" "0" "00037" "ADCY3_000001" "g.25130542A>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.24907673A>C" "" "VUS" "" "0000011604" "0" "50" "2" "25130542" "25130542" "subst" "0" "00037" "ADCY3_000001" "g.25130542A>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.24907673A>C" "" "VUS" "" "0000357957" "3" "90" "2" "25042924" "25042924" "del" "0" "00006" "ADCY3_000003" "g.25042924del" "" "{PMID:Saeed 2018:29311637}" "" "" "" "Germline" "" "" "0" "" "" "g.24820055del" "" "pathogenic" "" "0000357958" "3" "90" "2" "25047406" "25047406" "subst" "0" "00006" "ADCY3_000004" "g.25047406C>T" "" "{PMID:Saeed 2018:29311637}" "" "" "" "Germline" "" "" "0" "" "" "g.24824537C>T" "" "pathogenic" "" "0000357959" "3" "90" "2" "25141666" "25141666" "subst" "0.000268955" "00006" "ADCY3_000005" "g.25141666T>A" "" "{PMID:Saeed 2018:29311637}" "" "" "" "Germline" "yes" "rs541941351" "0" "" "" "g.24918797T>A" "" "pathogenic" "" "0000357960" "11" "90" "2" "25062834" "25062834" "del" "0" "00006" "ADCY3_000006" "g.25062834del" "" "{PMID:Saeed 2018:29311637}" "" "" "" "Germline" "" "" "0" "" "" "g.24839965del" "" "pathogenic" "" "0000357961" "21" "90" "2" "25042886" "25042888" "del" "0" "00006" "ADCY3_000002" "g.25042886_25042888del" "" "{PMID:Saeed 2018:29311637}" "" "" "" "Germline" "" "rs750852737" "0" "" "" "g.24820017_24820019del" "" "pathogenic" "" "0000515427" "0" "50" "2" "25013423" "25013423" "subst" "4.06521E-6" "01943" "ADCY3_000007" "g.25013423G>C" "" "" "" "PTRHD1(NM_001013663.1):c.280C>G (p.L94V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24790554G>C" "" "VUS" "" "0000515428" "0" "30" "2" "25016001" "25016001" "subst" "0" "01943" "ADCY3_000008" "g.25016001G>T" "" "" "" "PTRHD1(NM_001013663.1):c.246C>A (p.V82=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24793132G>T" "" "likely benign" "" "0000515429" "0" "10" "2" "25016120" "25016120" "subst" "0.00218348" "01943" "ADCY3_000009" "g.25016120G>T" "" "" "" "PTRHD1(NM_001013663.1):c.127C>A (p.P43T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24793251G>T" "" "benign" "" "0000654609" "0" "50" "2" "25057384" "25057384" "subst" "2.44242E-5" "02327" "ADCY3_000011" "g.25057384G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24834515G>A" "" "VUS" "" "0000688722" "0" "50" "2" "25013426" "25013426" "subst" "8.13345E-6" "02325" "ADCY3_000012" "g.25013426C>T" "" "" "" "PTRHD1(NM_001013663.2):c.277G>A (p.E93K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718684" "0" "30" "2" "25016058" "25016058" "subst" "0.000293446" "01943" "ADCY3_000013" "g.25016058G>A" "" "" "" "PTRHD1(NM_001013663.1):c.189C>T (p.R63=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800534" "0" "50" "2" "25043645" "25043645" "subst" "4.06098E-6" "01943" "ADCY3_000014" "g.25043645G>A" "" "" "" "ADCY3(NM_001320613.1):c.3203C>T (p.T1068I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849831" "0" "70" "2" "25013423" "25013423" "del" "0" "02327" "ADCY3_000015" "g.25013423del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000858463" "0" "30" "2" "25016004" "25016004" "subst" "0.000122991" "01943" "ADCY3_000016" "g.25016004C>A" "" "" "" "PTRHD1(NM_001013663.1):c.243G>T (p.V81=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885085" "0" "30" "2" "25042846" "25042846" "subst" "0.000293957" "02330" "ADCY3_000017" "g.25042846A>G" "" "" "" "ADCY3(NM_001320613.2):c.3393T>C (p.N1131=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885086" "0" "30" "2" "25044374" "25044374" "subst" "0.000415699" "02330" "ADCY3_000018" "g.25044374G>A" "" "" "" "ADCY3(NM_001320613.2):c.3130+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885087" "0" "30" "2" "25045434" "25045434" "subst" "9.33934E-5" "02330" "ADCY3_000019" "g.25045434C>T" "" "" "" "ADCY3(NM_001320613.2):c.2952G>A (p.A984=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885088" "0" "30" "2" "25047286" "25047286" "subst" "0.00046699" "02330" "ADCY3_000020" "g.25047286G>A" "" "" "" "ADCY3(NM_001320613.2):c.2700C>T (p.H900=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885089" "0" "30" "2" "25053617" "25053617" "subst" "1.2191E-5" "02330" "ADCY3_000021" "g.25053617G>T" "" "" "" "ADCY3(NM_001320613.2):c.2133C>A (p.L711=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885090" "0" "30" "2" "25061488" "25061488" "subst" "2.84537E-5" "02330" "ADCY3_000022" "g.25061488G>A" "" "" "" "ADCY3(NM_001320613.2):c.1359C>T (p.R453=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885091" "0" "10" "2" "25064409" "25064409" "subst" "0.000428734" "02330" "ADCY3_000023" "g.25064409G>A" "" "" "" "ADCY3(NM_001320613.2):c.1068+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000885092" "0" "30" "2" "25064458" "25064458" "subst" "0.00103871" "02330" "ADCY3_000024" "g.25064458G>A" "" "" "" "ADCY3(NM_001320613.2):c.1035C>T (p.N345=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885093" "0" "30" "2" "25065116" "25065116" "subst" "0.000235903" "02330" "ADCY3_000025" "g.25065116G>A" "" "" "" "ADCY3(NM_001320613.2):c.956+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885094" "0" "30" "2" "25065212" "25065212" "subst" "0.000333168" "02330" "ADCY3_000026" "g.25065212G>A" "" "" "" "ADCY3(NM_001320613.2):c.867C>T (p.D289=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885095" "0" "10" "2" "25141251" "25141251" "subst" "0.00193364" "02330" "ADCY3_000027" "g.25141251C>T" "" "" "" "ADCY3(NM_001320613.2):c.606G>A (p.T202=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000923670" "0" "30" "2" "25047425" "25047425" "subst" "1.2213E-5" "02330" "ADCY3_000028" "g.25047425G>A" "" "" "" "ADCY3(NM_001377128.1):c.2644-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923671" "0" "30" "2" "25048947" "25048947" "subst" "1.21969E-5" "02330" "ADCY3_000029" "g.25048947G>A" "" "" "" "ADCY3(NM_001377128.1):c.2610C>T (p.L870=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923672" "0" "30" "2" "25141275" "25141275" "subst" "0.000126092" "02330" "ADCY3_000030" "g.25141275G>A" "" "" "" "ADCY3(NM_001377128.1):c.582C>T (p.S194=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923673" "0" "30" "2" "25141485" "25141485" "subst" "0.000938262" "02330" "ADCY3_000031" "g.25141485G>C" "" "" "" "ADCY3(NM_001377128.1):c.372C>G (p.L124=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928572" "0" "50" "2" "25016045" "25016045" "subst" "2.03809E-5" "02325" "ADCY3_000032" "g.25016045T>C" "" "" "" "PTRHD1(NM_001013663.2):c.202A>G (p.T68A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928573" "0" "30" "2" "25046216" "25046216" "subst" "0" "02330" "ADCY3_000033" "g.25046216A>G" "" "" "" "ADCY3(NM_001377128.1):c.2811T>C (p.Y937=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928574" "0" "30" "2" "25051044" "25051044" "subst" "0.000304542" "02330" "ADCY3_000034" "g.25051044C>T" "" "" "" "ADCY3(NM_001377128.1):c.2239-14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928575" "0" "30" "2" "25053704" "25053704" "subst" "0.000506784" "02330" "ADCY3_000035" "g.25053704A>G" "" "" "" "ADCY3(NM_001377128.1):c.2122-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928576" "0" "30" "2" "25057398" "25057398" "subst" "0.000113809" "02330" "ADCY3_000036" "g.25057398G>A" "" "" "" "ADCY3(NM_001377128.1):c.1989C>T (p.V663=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928577" "0" "30" "2" "25065170" "25065170" "subst" "1.62509E-5" "02330" "ADCY3_000037" "g.25065170G>A" "" "" "" "ADCY3(NM_001377128.1):c.909C>T (p.D303=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947812" "0" "10" "2" "25048974" "25048974" "subst" "4.06577E-6" "02330" "ADCY3_000038" "g.25048974C>T" "" "" "" "ADCY3(NM_001377128.1):c.2583G>A (p.K861=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000947813" "0" "10" "2" "25050404" "25050404" "subst" "0.000139509" "02330" "ADCY3_000039" "g.25050404G>A" "" "" "" "ADCY3(NM_001377128.1):c.2561+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000947814" "0" "30" "2" "25057362" "25057362" "subst" "0.000164144" "02330" "ADCY3_000040" "g.25057362G>A" "" "" "" "ADCY3(NM_001377128.1):c.2025C>T (p.I675=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947815" "0" "30" "2" "25059846" "25059846" "subst" "4.06418E-6" "02330" "ADCY3_000041" "g.25059846G>A" "" "" "" "ADCY3(NM_001377128.1):c.1668C>T (p.P556=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947816" "0" "30" "2" "25141530" "25141530" "subst" "0.000268081" "02330" "ADCY3_000042" "g.25141530G>A" "" "" "" "ADCY3(NM_001377128.1):c.327C>T (p.A109=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992755" "0" "50" "2" "25038614" "25038614" "subst" "9.75166E-5" "01804" "ADCY3_000043" "g.25038614G>C" "" "" "" "CENPO(NM_024322.2):c.583G>C (p.(Asp195His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992756" "0" "50" "2" "25038617" "25038617" "subst" "0.000227566" "01804" "ADCY3_000044" "g.25038617C>T" "" "" "" "CENPO(NM_024322.2):c.586C>T (p.(Arg196Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033206" "0" "50" "2" "25043610" "25043610" "subst" "0.000840964" "02325" "ADCY3_000045" "g.25043610C>T" "" "" "" "ADCY3(NM_004036.5):c.3235G>A (p.V1079I)" "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 ADCY3 ## Count = 45 "{{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}}" "0000003633" "00001441" "50" "675" "10640" "675" "10640" "c.675+10640T>G" "r.(=)" "p.(=)" "" "0000011604" "00001441" "50" "675" "10640" "675" "10640" "c.675+10640T>G" "r.(=)" "p.(=)" "" "0000357957" "00001441" "90" "3315" "0" "3315" "0" "c.3315del" "r.(?)" "p.(Ile1106Serfs*3)" "21" "0000357958" "00001441" "90" "2578" "-1" "2578" "-1" "c.2578-1G>A" "r.spl" "p.?" "15i" "0000357959" "00001441" "90" "191" "0" "191" "0" "c.191A>T" "r.(?)" "p.(Asn64Ile)" "1" "0000357960" "00001441" "90" "1268" "0" "1268" "0" "c.1268del" "r.(?)" "p.(Gly423Alafs*19)" "6" "0000357961" "00001441" "90" "3354" "0" "3356" "0" "c.3354_3356del" "r.(?)" "p.(Phe1118del)" "21" "0000515427" "00001441" "50" "32813" "0" "32813" "0" "c.*29378C>G" "r.(=)" "p.(=)" "" "0000515428" "00001441" "30" "30235" "0" "30235" "0" "c.*26800C>A" "r.(=)" "p.(=)" "" "0000515429" "00001441" "10" "30116" "0" "30116" "0" "c.*26681C>A" "r.(=)" "p.(=)" "" "0000654609" "00001441" "50" "1937" "0" "1937" "0" "c.1937C>T" "r.(?)" "p.(Thr646Met)" "" "0000688722" "00001441" "50" "32810" "0" "32810" "0" "c.*29375G>A" "r.(=)" "p.(=)" "" "0000718684" "00001441" "30" "30178" "0" "30178" "0" "c.*26743C>T" "r.(=)" "p.(=)" "" "0000800534" "00001441" "50" "3200" "0" "3200" "0" "c.3200C>T" "r.(?)" "p.(Thr1067Ile)" "" "0000849831" "00001441" "70" "32813" "0" "32813" "0" "c.*29378del" "r.(?)" "p.(=)" "" "0000858463" "00001441" "30" "30232" "0" "30232" "0" "c.*26797G>T" "r.(=)" "p.(=)" "" "0000885085" "00001441" "30" "3390" "0" "3390" "0" "c.3390T>C" "r.(?)" "p.(Asn1130=)" "" "0000885086" "00001441" "30" "3127" "12" "3127" "12" "c.3127+12C>T" "r.(=)" "p.(=)" "" "0000885087" "00001441" "30" "2949" "0" "2949" "0" "c.2949G>A" "r.(?)" "p.(Ala983=)" "" "0000885088" "00001441" "30" "2697" "0" "2697" "0" "c.2697C>T" "r.(?)" "p.(His899=)" "" "0000885089" "00001441" "30" "2133" "0" "2133" "0" "c.2133C>A" "r.(?)" "p.(Leu711=)" "" "0000885090" "00001441" "30" "1359" "0" "1359" "0" "c.1359C>T" "r.(?)" "p.(Arg453=)" "" "0000885091" "00001441" "10" "1068" "16" "1068" "16" "c.1068+16C>T" "r.(=)" "p.(=)" "" "0000885092" "00001441" "30" "1035" "0" "1035" "0" "c.1035C>T" "r.(?)" "p.(Asn345=)" "" "0000885093" "00001441" "30" "956" "7" "956" "7" "c.956+7C>T" "r.(=)" "p.(=)" "" "0000885094" "00001441" "30" "867" "0" "867" "0" "c.867C>T" "r.(?)" "p.(Asp289=)" "" "0000885095" "00001441" "10" "606" "0" "606" "0" "c.606G>A" "r.(?)" "p.(Thr202=)" "" "0000923670" "00001441" "30" "2578" "-20" "2578" "-20" "c.2578-20C>T" "r.(=)" "p.(=)" "" "0000923671" "00001441" "30" "2544" "0" "2544" "0" "c.2544C>T" "r.(?)" "p.(Leu848=)" "" "0000923672" "00001441" "30" "582" "0" "582" "0" "c.582C>T" "r.(?)" "p.(Ser194=)" "" "0000923673" "00001441" "30" "372" "0" "372" "0" "c.372C>G" "r.(?)" "p.(Leu124=)" "" "0000928572" "00001441" "50" "30191" "0" "30191" "0" "c.*26756A>G" "r.(=)" "p.(=)" "" "0000928573" "00001441" "30" "2745" "0" "2745" "0" "c.2745T>C" "r.(?)" "p.(=)" "" "0000928574" "00001441" "30" "2173" "-14" "2173" "-14" "c.2173-14G>A" "r.(=)" "p.(=)" "" "0000928575" "00001441" "30" "2056" "-10" "2056" "-10" "c.2056-10T>C" "r.(=)" "p.(=)" "" "0000928576" "00001441" "30" "1923" "0" "1923" "0" "c.1923C>T" "r.(?)" "p.(=)" "" "0000928577" "00001441" "30" "909" "0" "909" "0" "c.909C>T" "r.(?)" "p.(=)" "" "0000947812" "00001441" "10" "2517" "0" "2517" "0" "c.2517G>A" "r.(?)" "p.(=)" "" "0000947813" "00001441" "10" "2495" "11" "2495" "11" "c.2495+11C>T" "r.(=)" "p.(=)" "" "0000947814" "00001441" "30" "1959" "0" "1959" "0" "c.1959C>T" "r.(?)" "p.(=)" "" "0000947815" "00001441" "30" "1602" "0" "1602" "0" "c.1602C>T" "r.(?)" "p.(=)" "" "0000947816" "00001441" "30" "327" "0" "327" "0" "c.327C>T" "r.(?)" "p.(=)" "" "0000992755" "00001441" "50" "7622" "0" "7622" "0" "c.*4187C>G" "r.(=)" "p.(=)" "" "0000992756" "00001441" "50" "7619" "0" "7619" "0" "c.*4184G>A" "r.(=)" "p.(=)" "" "0001033206" "00001441" "50" "3235" "0" "3235" "0" "c.3235G>A" "r.(?)" "p.(Val1079Ile)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000000209" "0000003633" "0000000210" "0000011604" "0000156091" "0000357957" "0000156092" "0000357958" "0000156093" "0000357959" "0000156094" "0000357960" "0000156094" "0000357961"