### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FAM20A) # 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}}" "FAM20A" "family with sequence similarity 20, member A" "17" "q24.3" "unknown" "NG_029809.1" "UD_132118743146" "" "https://www.LOVD.nl/FAM20A" "" "1" "23015" "54757" "611062" "1" "1" "1" "1" "Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/FAM20A_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2011-08-18 00:00:00" "00006" "2017-07-04 16:54:19" "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}}" "00007399" "FAM20A" "transcript variant 1" "001" "NM_017565.3" "" "NP_060035.2" "" "" "" "-288" "3987" "1626" "66597095" "66531257" "" "0000-00-00 00:00:00" "" "" ## 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}}" "01651" "AI1G" "amelogenesis imperfecta, type IG (AI1G, enamelrenal syndrome)" "AR" "204690" "" "hypoplastic enamel on primary and secondary dentition, pulp stones, delayed or failed eruption of secondary dentition, gingival overgrowth, nephrocalcinosis, blood chemistry analyses typically normal, nephrocalcinosis (renal ultrasound) may not appear until later in life" "autosomal recessive" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05650" "AI" "amelogenesis imperfecta (AI)" "" "" "" "" "" "00006" "2019-09-11 22:21:30" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "FAM20A" "01651" ## Individuals ## Do not remove or alter this header ## ## Count = 30 "{{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}}" "00107849" "" "" "" "1" "" "02060" "{PMID:Cho 2012:21990045}" "" "F" "" "Korea" "" "0" "" "" "" "" "00107850" "" "" "" "1" "" "02060" "{PMID:Cho 2012:21990045}" "" "F" "" "Korea" "" "0" "" "" "" "" "00107851" "" "" "" "1" "" "02060" "{PMID:Cho 2012:21990045}" "" "M" "" "Korea" "" "0" "" "" "" "" "00107852" "" "" "" "1" "" "02060" "{PMID:Cho 2012:21990045}" "" "M" "" "Korea" "" "0" "" "" "" "" "00264122" "" "" "" "4" "" "00006" "{PMID:O\'Sullivan 2011:21549343}" "3-generation family, 4 affected (3F, M), unaffected heterozygous carrier parents/relatives" "F" "yes" "Brazil" "" "0" "" "" "" "FamPatII1" "00264123" "" "" "00264122" "1" "" "00006" "{PMID:O\'Sullivan 2011:21549343}" "" "F" "yes" "Brazil" "" "0" "" "" "" "FamPatII2" "00264124" "" "" "00264122" "1" "" "00006" "{PMID:O\'Sullivan 2011:21549343}" "" "M" "yes" "Brazil" "" "0" "" "" "" "FamPatII3" "00264125" "" "" "00264122" "1" "" "00006" "{PMID:O\'Sullivan 2011:21549343}" "" "F" "yes" "Brazil" "" "0" "" "" "" "FamPatII7" "00264126" "" "" "" "3" "" "00006" "{PMID:Wang 2013:23468644}" "4-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives" "F;M" "" "" "" "0" "" "" "Caribbean" "Fam1" "00264127" "" "" "" "1" "" "00006" "{PMID:Wang 2013:23468644}" "5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "" "" "0" "" "" "Jordan" "Fam2" "00264128" "" "" "" "2" "" "00006" "{PMID:Wang 2013:23468644}" "3-generation family, 2 affected cousins, unaffected heterozygous carrier parents/relatives" "F;M" "no" "" "" "0" "" "" "Iran" "Fam3" "00264132" "" "" "" "1" "" "00006" "{PMID:Jaureguiberry 2012:23434854}" "2-generation family, 1 affected, unaffected parents" "M" "" "" "" "0" "" "" "" "Fam1" "00264133" "" "" "" "2" "" "00006" "{PMID:Jaureguiberry 2012:23434854}" "2-generation family, 2 affected (F, M), unaffected parents" "F;M" "" "" "" "0" "" "" "" "Fam2" "00264134" "" "" "" "2" "" "00006" "{PMID:Jaureguiberry 2012:23434854}" "2-generation family, 2 affected (F, M), unaffected parents" "F;M" "" "" "" "0" "" "" "" "Fam3" "00264135" "" "" "" "2" "" "00006" "{PMID:Jaureguiberry 2012:23434854}" "2-generation family, 2 affected (F, M), unaffected parents" "F;M" "" "" "" "0" "" "" "" "Fam4" "00264136" "" "" "" "1" "" "00006" "{PMID:Jaureguiberry 2012:23434854}" "2-generation family, 1 affected, unaffected parents" "F" "" "" "" "0" "" "" "" "Fam5" "00264137" "" "" "" "1" "" "00006" "{PMID:Jaureguiberry 2012:23434854}" "2-generation family, 1 affected, unaffected parents" "M" "" "" "" "0" "" "" "" "Fam6" "00264138" "" "" "" "2" "" "00006" "{PMID:Jaureguiberry 2012:23434854}" "2-generation family, 2 affected (F, M), unaffected parents" "F;M" "" "" "" "0" "" "" "" "Fam7" "00264139" "" "" "" "1" "" "00006" "{PMID:Jaureguiberry 2012:23434854}" "2-generation family, 1 affected, unaffected parents" "M" "" "" "" "0" "" "" "" "Fam8" "00264140" "" "" "" "1" "" "00006" "{PMID:Jaureguiberry 2012:23434854}" "2-generation family, 1 affected, unaffected parents" "F" "" "" "" "0" "" "" "" "Fam9" "00264141" "" "" "" "1" "" "00006" "{PMID:Jaureguiberry 2012:23434854}" "2-generation family, 1 affected, unaffected parents" "F" "" "" "" "0" "" "" "" "Fam10" "00264142" "" "" "" "2" "" "00006" "{PMID:Jaureguiberry 2012:23434854}" "2-generation family, 2 affected (F, M), unaffected parents" "F;M" "" "" "" "0" "" "" "" "Fam11" "00264143" "" "" "" "1" "" "00006" "{PMID:Jaureguiberry 2012:23434854}" "2-generation family, 1 affected, unaffected parents" "F" "" "" "" "0" "" "" "" "Fam12" "00264144" "" "" "" "2" "" "00006" "{PMID:Jaureguiberry 2012:23434854}" "2-generation family, 2 affected (F, M), unaffected parents" "F;M" "" "" "" "0" "" "" "" "Fam13" "00264145" "" "" "" "1" "" "00006" "{PMID:Jaureguiberry 2012:23434854}" "2-generation family, 1 affected, unaffected parents" "F" "" "" "" "0" "" "" "" "Fam14" "00264146" "" "" "" "3" "" "00006" "{PMID:Jaureguiberry 2012:23434854}" "2-generation family, 3 affected (F, 2M), unaffected parents" "F;M" "" "" "" "0" "" "" "" "Fam15" "00264147" "" "" "" "2" "" "00006" "{PMID:Jaureguiberry 2012:23434854}" "2-generation family, 2 affected (2F), unaffected parents" "F" "" "" "" "0" "" "" "" "Fam16" "00385895" "" "" "" "1" "" "00006" "{PMID:Prasad 2016:26502894}" "" "F" "" "" "" "0" "" "" "" "V2.06" "00385923" "" "" "" "1" "" "00006" "{PMID:Prasad 2016:26502894}" "" "F" "" "" "" "0" "" "" "" "V2.32" "00435221" "" "" "" "1" "" "01741" "" "" "" "" "" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 30 "{{individualid}}" "{{diseaseid}}" "00107849" "01651" "00107850" "01651" "00107851" "01651" "00107852" "01651" "00264122" "05650" "00264123" "05650" "00264124" "05650" "00264125" "05650" "00264126" "05650" "00264127" "05650" "00264128" "05650" "00264132" "05650" "00264133" "05650" "00264134" "05650" "00264135" "05650" "00264136" "05650" "00264137" "05650" "00264138" "05650" "00264139" "05650" "00264140" "05650" "00264141" "05650" "00264142" "05650" "00264143" "05650" "00264144" "05650" "00264145" "05650" "00264146" "05650" "00264147" "05650" "00385895" "05650" "00385923" "05650" "00435221" "01651" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 01651, 05650 ## Count = 30 "{{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}}" "0000085610" "01651" "00107849" "02060" "Familial, autosomal recessive" "" "Amelogenesis imperfecta; Autosomal recessive hypoplastic amelogenesis imperfecta; Gingival hyperplasia; Pulp stones; Prolonged retention of the deciduous teeth; Delayed or failed eruption of permanent teeth;" "" "" "" "" "" "" "" "" "" "0000085611" "01651" "00107850" "02060" "Familial, autosomal recessive" "" "Amelogenesis imperfecta; Autosomal recessive hypoplastic amelogenesis imperfecta; Gingival hyperplasia; Pulp stones; Prolonged retention of the deciduous teeth; Delayed or failed eruption of permanent teeth;" "" "" "" "" "" "" "" "" "" "0000085612" "01651" "00107851" "02060" "Familial, autosomal recessive" "" "Amelogenesis imperfecta; Autosomal recessive hypoplastic amelogenesis imperfecta; Gingival hyperplasia; Pulp stones; Prolonged retention of the deciduous teeth; Delayed or failed eruption of permanent teeth;" "" "" "" "" "" "" "" "" "" "0000085613" "01651" "00107852" "02060" "Familial, autosomal recessive" "" "Amelogenesis imperfecta; Autosomal recessive hypoplastic amelogenesis imperfecta; Gingival hyperplasia; Pulp stones; Prolonged retention of the deciduous teeth; Delayed or failed eruption of permanent teeth;" "" "" "" "" "" "" "" "" "" "0000201962" "05650" "00264122" "00006" "Familial, autosomal recessive" "" "see paper; …, amelogenesis imperfecta, gingival fibromatosis" "" "" "" "" "" "" "" "AI-1G" "amelogenesis imperfecta" "0000201963" "05650" "00264123" "00006" "Familial, autosomal recessive" "" "see paper; …, amelogenesis imperfecta, gingival fibromatosis" "" "" "" "" "" "" "" "AI-1G" "amelogenesis imperfecta" "0000201964" "05650" "00264124" "00006" "Familial, autosomal recessive" "" "see paper; …, amelogenesis imperfecta, gingival fibromatosis" "" "" "" "" "" "" "" "AI-1G" "amelogenesis imperfecta" "0000201965" "05650" "00264125" "00006" "Familial, autosomal recessive" "" "see paper; …, amelogenesis imperfecta, gingival fibromatosis, mental retardation" "" "" "" "" "" "" "" "AI-1G" "amelogenesis imperfecta" "0000201966" "05650" "00264126" "00006" "Familial, autosomal recessive" "" "see paper; …, severe enamel hypoplasia, failed tooth eruption, intrapulpal calcifications, enlarged gingiva, nephrocalcinosis" "" "" "" "" "" "" "" "AI-1G" "enamel-renal syndrome" "0000201967" "05650" "00264127" "00006" "Familial, autosomal recessive" "" "see paper; …, severe enamel hypoplasia, failed tooth eruption, intrapulpal calcifications, enlarged gingiva, nephrocalcinosis" "" "" "" "" "" "" "" "AI-1G" "enamel-renal syndrome" "0000201968" "05650" "00264128" "00006" "Familial, autosomal recessive" "" "see paper; …, severe enamel hypoplasia, failed tooth eruption, intrapulpal calcifications, enlarged gingiva, nephrocalcinosis" "" "" "" "" "" "" "" "AI-1G" "enamel-renal syndrome" "0000201972" "05650" "00264132" "00006" "Familial, autosomal recessive" "" "nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption)" "" "" "" "" "" "" "" "AI-1G" "enamel-renal syndrome" "0000201973" "05650" "00264133" "00006" "Familial, autosomal recessive" "" "nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption)" "" "" "" "" "" "" "" "AI-1G" "enamel-renal syndrome" "0000201974" "05650" "00264134" "00006" "Familial, autosomal recessive" "" "nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption)" "" "" "" "" "" "" "" "AI-1G" "enamel-renal syndrome" "0000201975" "05650" "00264135" "00006" "Familial, autosomal recessive" "" "nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption)" "" "" "" "" "" "" "" "AI-1G" "enamel-renal syndrome" "0000201976" "05650" "00264136" "00006" "Familial, autosomal recessive" "" "nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption)" "" "" "" "" "" "" "" "AI-1G" "enamel-renal syndrome" "0000201977" "05650" "00264137" "00006" "Familial, autosomal recessive" "" "nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption)" "" "" "" "" "" "" "" "AI-1G" "enamel-renal syndrome" "0000201978" "05650" "00264138" "00006" "Familial, autosomal recessive" "" "nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption)" "" "" "" "" "" "" "" "AI-1G" "enamel-renal syndrome" "0000201979" "05650" "00264139" "00006" "Familial, autosomal recessive" "" "nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption)" "" "" "" "" "" "" "" "AI-1G" "enamel-renal syndrome" "0000201980" "05650" "00264140" "00006" "Familial, autosomal recessive" "" "nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption)" "" "" "" "" "" "" "" "AI-1G" "enamel-renal syndrome" "0000201981" "05650" "00264141" "00006" "Familial, autosomal recessive" "" "nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption)" "" "" "" "" "" "" "" "AI-1G" "enamel-renal syndrome" "0000201982" "05650" "00264142" "00006" "Familial, autosomal recessive" "" "nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption)" "" "" "" "" "" "" "" "AI-1G" "enamel-renal syndrome" "0000201983" "05650" "00264143" "00006" "Familial, autosomal recessive" "" "nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption)" "" "" "" "" "" "" "" "AI-1G" "enamel-renal syndrome" "0000201984" "05650" "00264144" "00006" "Familial, autosomal recessive" "" "nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption)" "" "" "" "" "" "" "" "AI-1G" "enamel-renal syndrome" "0000201985" "05650" "00264145" "00006" "Familial, autosomal recessive" "" "nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption)" "" "" "" "" "" "" "" "AI-1G" "enamel-renal syndrome" "0000201986" "05650" "00264146" "00006" "Familial, autosomal recessive" "" "nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption)" "" "" "" "" "" "" "" "AI-1G" "enamel-renal syndrome" "0000201987" "05650" "00264147" "00006" "Familial, autosomal recessive" "" "nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption)" "" "" "" "" "" "" "" "AI-1G" "enamel-renal syndrome" "0000279698" "05650" "00385895" "00006" "Unknown" "14y" "enamel renal syndrome, amelogenesis imperfecta" "" "" "" "" "" "" "" "" "amelogenesis imperfecta" "0000279726" "05650" "00385923" "00006" "Unknown" "26y" "amelogenesis imperfecta hypomineralised, hypoplastic" "" "" "" "" "" "" "" "" "amelogenesis imperfecta" "0000325419" "01651" "00435221" "01741" "Unknown" "11y" "Amelogenesis imperfecta, Delayed permanent dentition" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 30 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000108318" "00107849" "1" "02060" "02060" "2011-08-26 06:08:55" "02060" "2011-08-27 06:21:48" "SEQ" "DNA" "" "" "0000108319" "00107850" "1" "02060" "02060" "2011-08-26 06:19:14" "02060" "2011-08-27 06:26:28" "SEQ" "DNA" "" "" "0000108320" "00107851" "1" "02060" "02060" "2011-08-26 06:10:58" "02060" "2011-08-27 06:23:57" "SEQ" "DNA" "" "" "0000108321" "00107852" "1" "02060" "02060" "2011-08-26 06:12:25" "02060" "2011-08-27 06:25:23" "SEQ" "DNA" "" "" "0000265242" "00264122" "1" "00006" "00006" "2019-09-12 08:42:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000265243" "00264123" "1" "00006" "00006" "2019-09-12 08:42:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000265244" "00264124" "1" "00006" "00006" "2019-09-12 08:42:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000265245" "00264125" "1" "00006" "00006" "2019-09-12 08:42:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000265246" "00264126" "1" "00006" "00006" "2019-09-12 08:53:47" "" "" "SEQ" "DNA" "" "" "0000265247" "00264127" "1" "00006" "00006" "2019-09-12 08:53:47" "" "" "SEQ" "DNA" "" "" "0000265248" "00264128" "1" "00006" "00006" "2019-09-12 08:53:47" "" "" "SEQ" "DNA" "" "" "0000265252" "00264132" "1" "00006" "00006" "2019-09-12 10:59:37" "" "" "SEQ" "DNA" "" "" "0000265253" "00264133" "1" "00006" "00006" "2019-09-12 10:59:37" "" "" "SEQ" "DNA" "" "" "0000265254" "00264134" "1" "00006" "00006" "2019-09-12 10:59:37" "" "" "SEQ" "DNA" "" "" "0000265255" "00264135" "1" "00006" "00006" "2019-09-12 10:59:37" "" "" "SEQ" "DNA" "" "" "0000265256" "00264136" "1" "00006" "00006" "2019-09-12 10:59:37" "" "" "SEQ" "DNA" "" "" "0000265257" "00264137" "1" "00006" "00006" "2019-09-12 10:59:37" "" "" "SEQ" "DNA" "" "" "0000265258" "00264138" "1" "00006" "00006" "2019-09-12 10:59:37" "" "" "SEQ" "DNA" "" "" "0000265259" "00264139" "1" "00006" "00006" "2019-09-12 10:59:37" "" "" "SEQ" "DNA" "" "" "0000265260" "00264140" "1" "00006" "00006" "2019-09-12 10:59:37" "" "" "SEQ" "DNA" "" "" "0000265261" "00264141" "1" "00006" "00006" "2019-09-12 10:59:37" "" "" "SEQ" "DNA" "" "" "0000265262" "00264142" "1" "00006" "00006" "2019-09-12 10:59:37" "" "" "SEQ" "DNA" "" "" "0000265263" "00264143" "1" "00006" "00006" "2019-09-12 10:59:37" "" "" "SEQ" "DNA" "" "" "0000265264" "00264144" "1" "00006" "00006" "2019-09-12 10:59:37" "" "" "SEQ" "DNA" "" "" "0000265265" "00264145" "1" "00006" "00006" "2019-09-12 10:59:37" "" "" "SEQ" "DNA" "" "" "0000265266" "00264146" "1" "00006" "00006" "2019-09-12 10:59:37" "" "" "SEQ" "DNA" "" "" "0000265267" "00264147" "1" "00006" "00006" "2019-09-12 10:59:37" "" "" "SEQ" "DNA" "" "" "0000387123" "00385895" "1" "00006" "00006" "2021-10-18 13:33:16" "" "" "SEQ;SEQ-NG" "DNA" "" "disease gene panel" "0000387151" "00385923" "1" "00006" "00006" "2021-10-18 13:33:16" "" "" "SEQ;SEQ-NG" "DNA" "" "disease gene panel" "0000436698" "00435221" "1" "01741" "01741" "2023-06-14 09:58:28" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 30 "{{screeningid}}" "{{geneid}}" "0000108318" "FAM20A" "0000108319" "FAM20A" "0000108320" "FAM20A" "0000108321" "FAM20A" "0000265242" "FAM20A" "0000265243" "FAM20A" "0000265244" "FAM20A" "0000265245" "FAM20A" "0000265246" "FAM20A" "0000265247" "FAM20A" "0000265248" "FAM20A" "0000265252" "FAM20A" "0000265253" "FAM20A" "0000265254" "FAM20A" "0000265255" "FAM20A" "0000265256" "FAM20A" "0000265257" "FAM20A" "0000265258" "FAM20A" "0000265259" "FAM20A" "0000265260" "FAM20A" "0000265261" "FAM20A" "0000265262" "FAM20A" "0000265263" "FAM20A" "0000265264" "FAM20A" "0000265265" "FAM20A" "0000265266" "FAM20A" "0000265267" "FAM20A" "0000387123" "FAM20A" "0000387151" "FAM20A" "0000436698" "FAM20A" ## 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 = 92 "{{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}}" "0000174234" "3" "90" "17" "66596775" "66596776" "del" "0" "02060" "FAM20A_000001" "g.66596775_66596776del" "" "{PMID:Cho 2012:21990045}" "" "34_35delCT" "" "Germline" "" "" "0" "" "" "g.68600634_68600635del" "" "pathogenic" "" "0000174235" "10" "90" "17" "66550970" "66550970" "subst" "0" "02060" "FAM20A_000005" "g.66550970T>C" "" "{PMID:Cho 2012:21990045}" "" "" "" "Germline" "" "" "0" "" "" "g.68554829T>C" "" "pathogenic" "" "0000174236" "3" "90" "17" "66538952" "66538952" "subst" "1.21844E-5" "02060" "FAM20A_000002" "g.66538952T>C" "" "{PMID:Cho 2012:21990045}" "" "" "" "Germline" "" "" "0" "" "" "g.68542811T>C" "" "pathogenic" "" "0000174237" "21" "90" "17" "66538937" "66538937" "subst" "0" "02060" "FAM20A_000004" "g.66538937G>A" "" "{PMID:Cho 2012:21990045}" "" "" "" "Germline" "" "" "0" "" "" "g.68542796G>A" "" "pathogenic" "" "0000174238" "3" "90" "17" "66537031" "66537035" "del" "0" "02060" "FAM20A_000003" "g.66537031_66537035del" "" "{PMID:Cho 2012:21990045}" "" "1175_1179delGGCTC" "" "Germline" "" "" "0" "" "" "g.68540890_68540894del" "" "pathogenic" "" "0000250235" "0" "10" "17" "66521877" "66521877" "subst" "0.00722754" "02329" "PRKAR1A_000028" "g.66521877A>G" "" "" "" "PRKAR1A(NM_002734.5):c.550-18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68525736A>G" "" "benign" "" "0000276580" "0" "50" "17" "66538123" "66538123" "subst" "0" "01943" "FAM20A_000006" "g.66538123C>A" "" "" "" "FAM20A(NM_001243746.1):c.695+3G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68541982C>A" "" "VUS" "" "0000297355" "0" "10" "17" "66519861" "66519861" "dup" "0" "02325" "PRKAR1A_000026" "g.66519861dup" "" "" "" "PRKAR1A(NM_212471.3):c.349-4delCinsTC, PRKAR1A(NM_212471.3):c.349-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68523720dup" "" "benign" "" "0000299080" "0" "10" "17" "66511627" "66511627" "subst" "0.0179366" "02329" "PRKAR1A_000024" "g.66511627G>A" "" "" "" "PRKAR1A(NM_001276289.1):c.87G>A (p.(Ala29=)), PRKAR1A(NM_002734.5):c.87G>A (p.A29=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68515486G>A" "" "benign" "" "0000301209" "0" "30" "17" "66518940" "66518940" "subst" "0.00039429" "02326" "PRKAR1A_000025" "g.66518940G>A" "" "" "" "PRKAR1A(NM_001369389.1):c.221G>A (p.R74H), PRKAR1A(NM_002734.5):c.221G>A (p.R74H), PRKAR1A(NM_212471.2):c.221G>A (p.R74H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68522799G>A" "" "likely benign" "" "0000301210" "0" "10" "17" "66519972" "66519972" "subst" "0.00122822" "02326" "PRKAR1A_000027" "g.66519972T>C" "" "" "" "PRKAR1A(NM_212471.2):c.440+15T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68523831T>C" "" "benign" "" "0000347210" "0" "10" "17" "66533655" "66533655" "subst" "0.71316" "02327" "FAM20A_000007" "g.66533655A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68537514A>G" "" "benign" "" "0000562864" "0" "70" "17" "66526546" "66526546" "subst" "0" "01804" "PRKAR1A_000010" "g.66526546C>T" "" "" "" "PRKAR1A(NM_001276289.1):c.1102C>T (p.(Arg368Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68530405C>T" "" "likely pathogenic" "" "0000562865" "0" "30" "17" "66596518" "66596518" "subst" "0" "01804" "FAM20A_000008" "g.66596518G>A" "" "" "" "FAM20A(NM_001243746.1):c.-351C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68600377G>A" "" "likely benign" "" "0000595846" "3" "90" "17" "66551883" "66551883" "subst" "4.06398E-5" "00006" "FAM20A_000011" "g.66551883G>A" "" "{PMID:O\'Sullivan 2011:21549343}" "" "" "" "Germline" "" "" "0" "" "" "g.68555742G>A" "" "pathogenic (recessive)" "" "0000595847" "3" "90" "17" "66551883" "66551883" "subst" "4.06398E-5" "00006" "FAM20A_000011" "g.66551883G>A" "" "{PMID:O\'Sullivan 2011:21549343}" "" "" "" "Germline" "" "" "0" "" "" "g.68555742G>A" "" "pathogenic (recessive)" "" "0000595848" "3" "90" "17" "66551883" "66551883" "subst" "4.06398E-5" "00006" "FAM20A_000011" "g.66551883G>A" "" "{PMID:O\'Sullivan 2011:21549343}" "" "" "" "Germline" "" "" "0" "" "" "g.68555742G>A" "" "pathogenic (recessive)" "" "0000595849" "3" "90" "17" "66551883" "66551883" "subst" "4.06398E-5" "00006" "FAM20A_000011" "g.66551883G>A" "" "{PMID:O\'Sullivan 2011:21549343}" "" "" "" "Germline" "" "" "0" "" "" "g.68555742G>A" "" "pathogenic (recessive)" "" "0000595850" "3" "90" "17" "66538243" "66538243" "subst" "0" "00006" "FAM20A_000010" "g.66538243C>T" "" "{PMID:Wang 2013:23468644}" "" "g.63853A>G" "" "Germline" "yes" "" "0" "" "" "g.68542102C>T" "" "pathogenic (recessive)" "" "0000595851" "1" "90" "17" "66551883" "66551883" "subst" "4.06398E-5" "00006" "FAM20A_000011" "g.66551883G>A" "" "{PMID:Wang 2013:23468644}" "" "g.50213C>G" "" "Germline" "" "" "0" "" "" "g.68555742G>A" "" "pathogenic (recessive)" "" "0000595852" "3" "90" "17" "66551883" "66551883" "subst" "4.06398E-5" "00006" "FAM20A_000011" "g.66551883G>A" "" "{PMID:Wang 2013:23468644}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68555742G>A" "" "pathogenic (recessive)" "" "0000595853" "2" "90" "17" "66533812" "66533812" "subst" "1.22884E-5" "00006" "FAM20A_000012" "g.66533812G>A" "" "{PMID:Wang 2013:23468644}" "" "g.68284C>T" "" "Germline" "yes" "" "0" "" "" "g.68537671G>A" "" "pathogenic (recessive)" "" "0000595857" "3" "90" "17" "66538848" "66538851" "del" "0" "00006" "FAM20A_000013" "g.66538848_66538851del" "" "{PMID:Jaureguiberry 2012:23434854}" "" "915_918delCTTT" "" "Germline" "" "" "0" "" "" "g.68542707_68542710del" "" "pathogenic (recessive)" "" "0000595858" "1" "90" "17" "66538851" "66538852" "del" "0" "00006" "FAM20A_000014" "g.66538851_66538852del" "" "{PMID:Jaureguiberry 2012:23434854}" "" "913_914delTT" "" "Germline" "" "" "0" "" "" "g.68542710_68542711del" "" "pathogenic (recessive)" "" "0000595859" "1" "90" "17" "66535495" "66535496" "del" "0" "00006" "FAM20A_000016" "g.66535495_66535496del" "" "{PMID:Jaureguiberry 2012:23434854}" "" "1348_1349delTC" "" "Germline" "" "" "0" "" "" "g.68539354_68539355del" "" "pathogenic (recessive)" "" "0000595860" "3" "90" "17" "66533766" "66533769" "dup" "0" "00006" "FAM20A_000025" "g.66533766_66533769dup" "" "{PMID:Jaureguiberry 2012:23434854}" "" "1475_1478dupAACCCCAC" "" "Germline" "" "" "0" "" "" "g.68537625_68537628dup" "" "pathogenic (recessive)" "" "0000595861" "3" "90" "17" "66551883" "66551883" "subst" "4.06398E-5" "00006" "FAM20A_000011" "g.66551883G>A" "" "{PMID:Jaureguiberry 2012:23434854}" "" "" "" "Germline" "" "" "0" "" "" "g.68555742G>A" "" "pathogenic (recessive)" "" "0000595862" "3" "90" "17" "66596775" "66596776" "del" "0" "00006" "FAM20A_000001" "g.66596775_66596776del" "" "{PMID:Jaureguiberry 2012:23434854}" "" "34_35delCT" "" "Germline" "" "" "0" "" "" "g.68600634_68600635del" "" "pathogenic (recessive)" "" "0000595863" "3" "90" "17" "66533731" "66533731" "del" "0" "00006" "FAM20A_000024" "g.66533731del" "" "{PMID:Jaureguiberry 2012:23434854}" "" "1513delA" "" "Germline" "" "" "0" "" "" "g.68537590del" "" "pathogenic (recessive)" "" "0000595864" "3" "90" "17" "66533812" "66533812" "subst" "1.22884E-5" "00006" "FAM20A_000012" "g.66533812G>A" "" "{PMID:Jaureguiberry 2012:23434854}" "" "" "" "Germline" "" "" "0" "" "" "g.68537671G>A" "" "pathogenic (recessive)" "" "0000595865" "3" "90" "17" "66551771" "66551771" "subst" "0" "00006" "FAM20A_000029" "g.66551771A>C" "" "{PMID:Jaureguiberry 2012:23434854}" "" "" "" "Germline" "" "" "0" "" "" "g.68555630A>C" "" "pathogenic (recessive)" "" "0000595866" "1" "90" "17" "66536098" "66536099" "del" "0" "00006" "FAM20A_000018" "g.66536098_66536099del" "" "{PMID:Jaureguiberry 2012:23434854}" "" "1228_1229delGA" "" "Germline" "" "" "0" "" "" "g.68539957_68539958del" "" "pathogenic (recessive)" "" "0000595867" "1" "90" "17" "66596591" "66596591" "subst" "0" "00006" "FAM20A_000020" "g.66596591G>A" "" "{PMID:Jaureguiberry 2012:23434854}" "" "" "" "Germline" "" "" "0" "" "" "g.68600450G>A" "" "pathogenic (recessive)" "" "0000595868" "3" "90" "17" "66533875" "66533875" "subst" "0" "00006" "FAM20A_000026" "g.66533875T>A" "" "{PMID:Jaureguiberry 2012:23434854}" "" "" "" "Germline" "" "" "0" "" "" "g.68537734T>A" "" "pathogenic (recessive)" "" "0000595869" "1" "90" "17" "66539830" "66539832" "del" "0" "00006" "FAM20A_000021" "g.66539830_66539832del" "" "{PMID:Jaureguiberry 2012:23434854}" "" "755_757delTCT" "" "Germline" "" "" "0" "" "" "g.68543689_68543691del" "" "pathogenic (recessive)" "" "0000595870" "3" "90" "17" "66539768" "66539768" "subst" "0" "00006" "FAM20A_000028" "g.66539768A>C" "" "{PMID:Jaureguiberry 2012:23434854}" "" "IVS5+2T>G" "" "Germline" "" "" "0" "" "" "g.68543627A>C" "" "pathogenic (recessive)" "" "0000595871" "3" "90" "17" "66538857" "66538858" "del" "0" "00006" "FAM20A_000027" "g.66538857_66538858del" "" "{PMID:Jaureguiberry 2012:23434854}" "" "907_908delAG" "" "Germline" "" "" "0" "" "" "g.68542716_68542717del" "" "pathogenic (recessive)" "" "0000595872" "1" "90" "17" "66596775" "66596776" "del" "0" "00006" "FAM20A_000001" "g.66596775_66596776del" "" "{PMID:Jaureguiberry 2012:23434854}" "" "34_35delCT" "" "Germline" "" "" "0" "" "" "g.68600634_68600635del" "" "pathogenic (recessive)" "" "0000595873" "2" "90" "17" "66551699" "66551699" "subst" "0" "00006" "FAM20A_000015" "g.66551699C>T" "" "{PMID:Jaureguiberry 2012:23434854}" "" "IVS2+1G>A" "" "Germline" "" "" "0" "" "" "g.68555558C>T" "" "pathogenic (recessive)" "" "0000595874" "2" "90" "17" "66548013" "66548013" "subst" "0" "00006" "FAM20A_000017" "g.66548013C>G" "" "{PMID:Jaureguiberry 2012:23434854}" "" "IVS4+1G>C" "" "Germline" "" "" "0" "" "" "g.68551872C>G" "" "pathogenic (recessive)" "" "0000595875" "2" "90" "17" "66539855" "66539855" "subst" "2.43795E-5" "00006" "FAM20A_000019" "g.66539855G>A" "" "{PMID:Jaureguiberry 2012:23434854}" "" "" "" "Germline" "" "" "0" "" "" "g.68543714G>A" "" "pathogenic (recessive)" "" "0000595876" "2" "90" "17" "66539855" "66539855" "subst" "2.43795E-5" "00006" "FAM20A_000019" "g.66539855G>A" "" "{PMID:Jaureguiberry 2012:23434854}" "" "" "" "Germline" "" "" "0" "" "" "g.68543714G>A" "" "pathogenic (recessive)" "" "0000595877" "2" "90" "17" "66548013" "66548093" "del" "0" "00006" "FAM20A_000022" "g.(66539863_66548013)_(66548093_66550917)del" "" "{PMID:Jaureguiberry 2012:23434854}" "" "641–719del79" "" "Germline" "" "" "0" "" "" "g.(68543722_68551872)_(68551952_68554776)del" "" "pathogenic (recessive)" "" "0000595879" "2" "90" "17" "66550947" "66550947" "del" "0" "00006" "FAM20A_000023" "g.66550947del" "" "{PMID:Jaureguiberry 2012:23434854}" "" "612delC" "" "Germline" "" "" "0" "" "" "g.68554806del" "" "pathogenic (recessive)" "" "0000616775" "0" "50" "17" "66547263" "66547263" "subst" "0" "01804" "FAM20A_000030" "g.66547263T>G" "" "" "" "PRKAR1A(NM_001276290.1):c.1012T>G (p.*338Eext*7, p.(*338Gluext*7))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68551122T>G" "" "VUS" "" "0000680992" "0" "50" "17" "66547263" "66547263" "subst" "0" "01943" "FAM20A_000030" "g.66547263T>G" "" "" "" "PRKAR1A(NM_001276290.1):c.1012T>G (p.*338Eext*7, p.(*338Gluext*7))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692449" "0" "50" "17" "66521899" "66521899" "subst" "8.12308E-6" "02327" "FAM20A_000031" "g.66521899A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726637" "0" "90" "17" "66526546" "66526546" "subst" "0" "02327" "PRKAR1A_000010" "g.66526546C>T" "" "" "" "PRKAR1A(NM_001276289.1):c.1102C>T (p.(Arg368Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000808233" "0" "10" "17" "66520112" "66520112" "subst" "0.00487398" "02369" "FAM20A_000032" "g.66520112G>A" "" "" "" "PRKAR1A(NM_212471.2):c.441-45G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000808234" "0" "90" "17" "66596725" "66596725" "subst" "0" "02326" "FAM20A_000033" "g.66596725C>T" "" "" "" "FAM20A(NM_017565.4):c.83G>A (p.W28*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000814984" "3" "90" "17" "66538130" "66538131" "del" "0" "00006" "FAM20A_000035" "g.66538130_66538131del" "" "{PMID:Prasad 2016:26502894}" "" "" "" "Germline" "" "" "0" "" "" "g.68541989_68541990del" "" "pathogenic" "" "0000815012" "21" "70" "17" "66550970" "66550970" "delins" "0" "00006" "FAM20A_000036" "g.66550970_66550970delinsTC" "" "{PMID:Prasad 2016:26502894}" "" "[590-2A>G;590-3C>A]" "" "Germline" "" "" "0" "" "" "g.68554829_68554830delinsTC" "" "likely pathogenic" "" "0000815022" "0" "70" "17" "66536033" "66536033" "subst" "3.25005E-5" "00006" "FAM20A_000034" "g.66536033C>T" "" "{PMID:Prasad 2016:26502894}" "" "" "" "De novo" "" "" "0" "" "" "g.68539892C>T" "" "likely pathogenic" "" "0000865470" "0" "10" "17" "66511627" "66511627" "subst" "0.0179366" "01804" "PRKAR1A_000024" "g.66511627G>A" "" "" "" "PRKAR1A(NM_001276289.1):c.87G>A (p.(Ala29=)), PRKAR1A(NM_002734.5):c.87G>A (p.A29=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000865471" "0" "50" "17" "66523997" "66523997" "subst" "0" "01943" "FAM20A_000037" "g.66523997A>C" "" "" "" "PRKAR1A(NM_212471.2):c.725A>C (p.K242T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865472" "0" "30" "17" "66526473" "66526473" "subst" "0.000568657" "01943" "FAM20A_000038" "g.66526473C>T" "" "" "" "PRKAR1A(NM_001369389.1):c.1029C>T (p.G343=), PRKAR1A(NM_212471.2):c.1029C>T (p.G343=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865473" "0" "30" "17" "66533733" "66533733" "subst" "0.0014996" "01804" "FAM20A_000039" "g.66533733G>A" "" "" "" "FAM20A(NM_001243746.1):c.1097C>T (p.(Thr366Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894221" "0" "30" "17" "66596772" "66596774" "dup" "0" "02326" "FAM20A_000040" "g.66596772_66596774dup" "" "" "" "FAM20A(NM_017565.4):c.43_45dup (p.(Leu15dup)), FAM20A(NM_017565.4):c.43_45dupCTG (p.L15dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914959" "0" "30" "17" "66551845" "66551845" "subst" "0.00060102" "02326" "FAM20A_000041" "g.66551845G>A" "" "" "" "FAM20A(NM_017565.4):c.444C>T (p.S148=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927814" "3" "90" "17" "66533831" "66533831" "subst" "0" "01741" "FAM20A_000042" "g.66533831G>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.68537690G>C" "" "pathogenic (recessive)" "" "0000951023" "0" "50" "17" "66551763" "66551763" "subst" "0.000142125" "01804" "FAM20A_000043" "g.66551763G>C" "" "" "" "FAM20A(NM_001243746.1):c.112C>G (p.(Arg38Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000969196" "0" "50" "17" "66511611" "66511611" "subst" "8.12176E-6" "02327" "FAM20A_000044" "g.66511611A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000969197" "0" "30" "17" "66511643" "66511643" "subst" "0.000117766" "02325" "FAM20A_000045" "g.66511643A>G" "" "" "" "PRKAR1A(NM_002734.5):c.103A>G (p.I35V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969198" "0" "30" "17" "66518902" "66518902" "subst" "0" "02330" "FAM20A_000046" "g.66518902G>A" "" "" "" "PRKAR1A(NM_001369389.1):c.183G>A (p.E61=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969199" "0" "30" "17" "66518940" "66518940" "subst" "0.00039429" "02330" "PRKAR1A_000025" "g.66518940G>A" "" "" "" "PRKAR1A(NM_001369389.1):c.221G>A (p.R74H), PRKAR1A(NM_002734.5):c.221G>A (p.R74H), PRKAR1A(NM_212471.2):c.221G>A (p.R74H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969200" "0" "30" "17" "66519898" "66519898" "subst" "8.53464E-5" "02330" "FAM20A_000047" "g.66519898T>C" "" "" "" "PRKAR1A(NM_001369389.1):c.381T>C (p.A127=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969201" "0" "30" "17" "66526473" "66526473" "subst" "0.000568657" "02330" "FAM20A_000038" "g.66526473C>T" "" "" "" "PRKAR1A(NM_001369389.1):c.1029C>T (p.G343=), PRKAR1A(NM_212471.2):c.1029C>T (p.G343=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969202" "0" "30" "17" "66547208" "66547208" "subst" "0.000753693" "02330" "FAM20A_000048" "g.66547208G>A" "" "" "" "PRKAR1A(NM_001276290.1):c.974-17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969203" "0" "30" "17" "66547249" "66547249" "subst" "0.167823" "02329" "FAM20A_000049" "g.66547249G>A" "" "" "" "PRKAR1A(NM_001276290.1):c.998G>A (p.S333N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982740" "0" "30" "17" "66525002" "66525002" "subst" "0.00109326" "02330" "FAM20A_000050" "g.66525002G>T" "" "" "" "PRKAR1A(NM_001369389.1):c.770-9G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982741" "0" "50" "17" "66526133" "66526133" "subst" "0" "02327" "FAM20A_000051" "g.66526133G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982742" "0" "30" "17" "66535468" "66535468" "subst" "8.12354E-6" "01804" "FAM20A_000052" "g.66535468G>T" "" "" "" "FAM20A(NM_017565.4):c.1361+10C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982743" "0" "30" "17" "66535525" "66535525" "subst" "0.000536028" "02326" "FAM20A_000053" "g.66535525G>A" "" "" "" "FAM20A(NM_017565.4):c.1314C>T (p.H438=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982744" "0" "50" "17" "66538223" "66538223" "subst" "0.000418376" "01804" "FAM20A_000054" "g.66538223C>T" "" "" "" "FAM20A(NM_017565.4):c.1012G>A (p.(Gly338Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982745" "0" "50" "17" "66596772" "66596774" "dup" "0" "01804" "FAM20A_000040" "g.66596772_66596774dup" "" "" "" "FAM20A(NM_017565.4):c.43_45dup (p.(Leu15dup)), FAM20A(NM_017565.4):c.43_45dupCTG (p.L15dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003618" "0" "30" "17" "66520205" "66520205" "subst" "0.000203095" "02330" "FAM20A_000055" "g.66520205T>C" "" "" "" "PRKAR1A(NM_001369389.1):c.489T>C (p.T163=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003619" "0" "50" "17" "66538952" "66538952" "subst" "1.21844E-5" "01804" "FAM20A_000002" "g.66538952T>C" "" "" "" "PRKAR1A(NM_001276290.1):c.974-8273T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015607" "0" "50" "17" "66511724" "66511724" "subst" "0" "02330" "FAM20A_000056" "g.66511724A>G" "" "" "" "PRKAR1A(NM_001369389.1):c.177+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015608" "0" "30" "17" "66518923" "66518923" "subst" "0.00113384" "02329" "FAM20A_000057" "g.66518923G>A" "" "" "" "PRKAR1A(NM_002734.5):c.204G>A (p.L68=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027048" "0" "30" "17" "66511747" "66511747" "subst" "0.00197331" "02329" "FAM20A_000058" "g.66511747T>G" "" "" "" "PRKAR1A(NM_002734.5):c.177+30T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027049" "0" "30" "17" "66518940" "66518940" "subst" "0.00039429" "02325" "PRKAR1A_000025" "g.66518940G>A" "" "" "" "PRKAR1A(NM_001369389.1):c.221G>A (p.R74H), PRKAR1A(NM_002734.5):c.221G>A (p.R74H), PRKAR1A(NM_212471.2):c.221G>A (p.R74H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027050" "0" "70" "17" "66521074" "66521074" "subst" "0" "02325" "PRKAR1A_000003" "g.66521074A>G" "" "" "" "PRKAR1A(NM_002734.5):c.524A>G (p.Y175C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001042133" "0" "30" "17" "66519090" "66519090" "subst" "0.000356938" "01804" "FAM20A_000059" "g.66519090G>A" "" "" "" "PRKAR1A(NM_002734.5):c.348+23G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042134" "0" "50" "17" "66521095" "66521095" "subst" "8.13068E-6" "01804" "FAM20A_000060" "g.66521095C>T" "" "" "" "PRKAR1A(NM_002734.5):c.545C>T (p.(Thr182Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042135" "0" "50" "17" "66538124" "66538127" "del" "0" "01804" "FAM20A_000061" "g.66538124_66538127del" "" "" "" "FAM20A(NM_017565.4):c.1109+3_1109+6del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042136" "0" "30" "17" "66538153" "66538153" "subst" "5.29126E-5" "01804" "FAM20A_000062" "g.66538153C>T" "" "" "" "FAM20A(NM_017565.4):c.1082G>A (p.(Arg361His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042137" "0" "30" "17" "66538315" "66538323" "del" "0" "01804" "FAM20A_000063" "g.66538315_66538323del" "" "" "" "FAM20A(NM_017565.4):c.929-11_929-3del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046667" "0" "50" "17" "66511679" "66511679" "subst" "1.62464E-5" "02325" "FAM20A_000064" "g.66511679A>G" "" "" "" "PRKAR1A(NM_002734.5):c.139A>G (p.M47V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056155" "0" "70" "17" "66519038" "66519044" "del" "0" "01804" "FAM20A_000065" "g.66519038_66519044del" "" "" "" "PRKAR1A(NM_002734.5):c.319_325del (p.(Glu107Metfs*20))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001056156" "0" "50" "17" "66520189" "66520189" "subst" "0" "01804" "FAM20A_000066" "g.66520189T>G" "" "" "" "PRKAR1A(NM_002734.5):c.473T>G (p.(Phe158Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056157" "0" "70" "17" "66539861" "66539861" "subst" "8.12724E-6" "01804" "FAM20A_000067" "g.66539861G>A" "" "" "" "FAM20A(NM_017565.4):c.721C>T (p.(Gln241*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001056158" "0" "50" "17" "66551849" "66551849" "subst" "0.000154323" "01804" "FAM20A_000068" "g.66551849G>A" "" "" "" "FAM20A(NM_017565.4):c.440C>T (p.(Thr147Ile))" "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 FAM20A ## Count = 92 "{{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}}" "0000174234" "00007399" "90" "34" "0" "35" "0" "c.34_35del" "r.(?)" "p.(Leu12Alafs*67)" "1" "0000174235" "00007399" "90" "590" "-2" "590" "-2" "c.590-2A>G" "r.spl?" "p.(?)" "3i" "0000174236" "00007399" "90" "813" "-2" "813" "-2" "c.813-2A>G" "r.spl?" "p.(?)" "6i" "0000174237" "00007399" "90" "826" "0" "826" "0" "c.826C>T" "r.(?)" "p.(Arg276*)" "6" "0000174238" "00007399" "90" "1175" "0" "1179" "0" "c.1175_1179del" "r.0" "p.(Arg392Profs*22)" "8" "0000250235" "00007399" "10" "13367" "0" "13367" "0" "c.*11741T>C" "r.(=)" "p.(=)" "" "0000276580" "00007399" "50" "1109" "3" "1109" "3" "c.1109+3G>T" "r.spl?" "p.?" "" "0000297355" "00007399" "10" "15386" "0" "15386" "0" "c.*13760dup" "r.(?)" "p.(=)" "" "0000299080" "00007399" "10" "23617" "0" "23617" "0" "c.*21991C>T" "r.(=)" "p.(=)" "" "0000301209" "00007399" "30" "16304" "0" "16304" "0" "c.*14678C>T" "r.(=)" "p.(=)" "" "0000301210" "00007399" "10" "15272" "0" "15272" "0" "c.*13646A>G" "r.(=)" "p.(=)" "" "0000347210" "00007399" "10" "1589" "0" "1589" "0" "c.1589T>C" "r.(?)" "p.(Leu530Ser)" "" "0000562864" "00007399" "70" "8698" "0" "8698" "0" "c.*7072G>A" "r.(=)" "p.(=)" "" "0000562865" "00007399" "30" "290" "0" "290" "0" "c.290C>T" "r.(?)" "p.(Ala97Val)" "" "0000595846" "00007399" "90" "406" "0" "406" "0" "c.406C>T" "r.(?)" "p.(Arg136*)" "" "0000595847" "00007399" "90" "406" "0" "406" "0" "c.406C>T" "r.(?)" "p.(Arg136*)" "" "0000595848" "00007399" "90" "406" "0" "406" "0" "c.406C>T" "r.(?)" "p.(Arg136*)" "" "0000595849" "00007399" "90" "406" "0" "406" "0" "c.406C>T" "r.(?)" "p.(Arg136*)" "" "0000595850" "00007399" "90" "992" "0" "992" "0" "c.992G>A" "r.(?)" "p.(Gly331Asp)" "" "0000595851" "00007399" "90" "406" "0" "406" "0" "c.406C>T" "r.(?)" "p.(Arg136*)" "" "0000595852" "00007399" "90" "406" "0" "406" "0" "c.406C>T" "r.(?)" "p.(Arg136*)" "" "0000595853" "00007399" "90" "1432" "0" "1432" "0" "c.1432C>T" "r.(?)" "p.(Arg478*)" "" "0000595857" "00007399" "90" "915" "0" "918" "0" "c.915_918del" "r.(?)" "p.(Phe305Leufs*76)" "" "0000595858" "00007399" "90" "913" "0" "914" "0" "c.913_914del" "r.(?)" "p.(Phe305Leufs*74)" "" "0000595859" "00007399" "90" "1348" "0" "1349" "0" "c.1348_1349del" "r.(?)" "p.(Ser450Profs*20)" "" "0000595860" "00007399" "90" "1475" "0" "1478" "0" "c.1475_1478dup" "r.(?)" "p.(His494Thrfs*46)" "" "0000595861" "00007399" "90" "406" "0" "406" "0" "c.406C>T" "r.(?)" "p.(Arg136*)" "" "0000595862" "00007399" "90" "34" "0" "35" "0" "c.34_35del" "r.(?)" "p.(Leu12Alafs*67)" "" "0000595863" "00007399" "90" "1513" "0" "1513" "0" "c.1513del" "r.(?)" "p.(Ile505Serfs*2)" "" "0000595864" "00007399" "90" "1432" "0" "1432" "0" "c.1432C>T" "r.(?)" "p.(Arg478*)" "" "0000595865" "00007399" "90" "518" "0" "518" "0" "c.518T>G" "r.(?)" "p.(Leu173Arg)" "" "0000595866" "00007399" "90" "1228" "0" "1229" "0" "c.1228_1229del" "r.(?)" "p.(Asp410Profs*5)" "" "0000595867" "00007399" "90" "217" "0" "217" "0" "c.217C>T" "r.(?)" "p.(Arg73*)" "" "0000595868" "00007399" "90" "1369" "0" "1369" "0" "c.1369A>T" "r.(?)" "p.(Lys457*)" "" "0000595869" "00007399" "90" "755" "0" "757" "0" "c.755_757del" "r.(?)" "p.(Phe252del)" "" "0000595870" "00007399" "90" "812" "2" "812" "2" "c.812+2T>G" "r.spl" "p.?" "" "0000595871" "00007399" "90" "907" "0" "908" "0" "c.907_908del" "r.(?)" "p.(Ser303Cysfs*76)" "" "0000595872" "00007399" "90" "34" "0" "35" "0" "c.34_35del" "r.(?)" "p.(Leu12Alafs*67)" "" "0000595873" "00007399" "90" "589" "1" "589" "1" "c.589+1G>A" "r.spl" "p.?" "" "0000595874" "00007399" "90" "719" "1" "719" "1" "c.719+1G>C" "r.spl" "p.?" "" "0000595875" "00007399" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243*)" "" "0000595876" "00007399" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243*)" "" "0000595877" "00007399" "90" "641" "-1" "719" "1" "c.(640+1_641-1)_(719+1_720-1)del" "r.?" "p.?" "" "0000595879" "00007399" "90" "612" "0" "612" "0" "c.612del" "r.(?)" "p.(Leu205Cysfs*11)" "" "0000616775" "00007399" "50" "719" "751" "719" "751" "c.719+751A>C" "r.(=)" "p.(=)" "" "0000680992" "00007399" "50" "719" "751" "719" "751" "c.719+751A>C" "r.(=)" "p.(=)" "" "0000692449" "00007399" "50" "13345" "0" "13345" "0" "c.*11719T>C" "r.(=)" "p.(=)" "" "0000726637" "00007399" "90" "8698" "0" "8698" "0" "c.*7072G>A" "r.(=)" "p.(=)" "" "0000808233" "00007399" "10" "15132" "0" "15132" "0" "c.*13506C>T" "r.(=)" "p.(=)" "" "0000808234" "00007399" "90" "83" "0" "83" "0" "c.83G>A" "r.(?)" "p.(Trp28*)" "" "0000814984" "00007399" "90" "1106" "0" "1107" "0" "c.1106_1107del" "r.(?)" "p.(Glu369GlyfsTer10)" "" "0000815012" "00007399" "70" "590" "-3" "590" "-2" "c.590-3_590-2delinsGA" "r.spl" "p.0?" "" "0000815022" "00007399" "70" "1294" "0" "1294" "0" "c.1294G>A" "r.(?)" "p.(Ala432Thr)" "" "0000865470" "00007399" "10" "23617" "0" "23617" "0" "c.*21991C>T" "r.(=)" "p.(=)" "" "0000865471" "00007399" "50" "11247" "0" "11247" "0" "c.*9621T>G" "r.(=)" "p.(=)" "" "0000865472" "00007399" "30" "8771" "0" "8771" "0" "c.*7145G>A" "r.(=)" "p.(=)" "" "0000865473" "00007399" "30" "1511" "0" "1511" "0" "c.1511C>T" "r.(?)" "p.(Thr504Ile)" "" "0000894221" "00007399" "30" "43" "0" "45" "0" "c.43_45dup" "r.(?)" "p.(Leu15dup)" "" "0000914959" "00007399" "30" "444" "0" "444" "0" "c.444C>T" "r.(?)" "p.(Ser148=)" "" "0000927814" "00007399" "90" "1413" "0" "1413" "0" "c.1413C>G" "r.(?)" "p.(Tyr471*)" "" "0000951023" "00007399" "50" "526" "0" "526" "0" "c.526C>G" "r.(?)" "p.(Arg176Gly)" "" "0000969196" "00007399" "50" "23633" "0" "23633" "0" "c.*22007T>C" "r.(=)" "p.(=)" "" "0000969197" "00007399" "30" "23601" "0" "23601" "0" "c.*21975T>C" "r.(=)" "p.(=)" "" "0000969198" "00007399" "30" "16342" "0" "16342" "0" "c.*14716C>T" "r.(=)" "p.(=)" "" "0000969199" "00007399" "30" "16304" "0" "16304" "0" "c.*14678C>T" "r.(=)" "p.(=)" "" "0000969200" "00007399" "30" "15346" "0" "15346" "0" "c.*13720A>G" "r.(=)" "p.(=)" "" "0000969201" "00007399" "30" "8771" "0" "8771" "0" "c.*7145G>A" "r.(=)" "p.(=)" "" "0000969202" "00007399" "30" "719" "806" "719" "806" "c.719+806C>T" "r.(=)" "p.(=)" "" "0000969203" "00007399" "30" "719" "765" "719" "765" "c.719+765C>T" "r.(=)" "p.(=)" "" "0000982740" "00007399" "30" "10242" "0" "10242" "0" "c.*8616C>A" "r.(=)" "p.(=)" "" "0000982741" "00007399" "50" "9111" "0" "9111" "0" "c.*7485C>A" "r.(=)" "p.(=)" "" "0000982742" "00007399" "30" "1361" "10" "1361" "10" "c.1361+10C>A" "r.(=)" "p.(=)" "" "0000982743" "00007399" "30" "1314" "0" "1314" "0" "c.1314C>T" "r.(?)" "p.(=)" "" "0000982744" "00007399" "50" "1012" "0" "1012" "0" "c.1012G>A" "r.(?)" "p.(Gly338Ser)" "" "0000982745" "00007399" "50" "43" "0" "45" "0" "c.43_45dup" "r.(?)" "p.(Leu15dup)" "" "0001003618" "00007399" "30" "15039" "0" "15039" "0" "c.*13413A>G" "r.(=)" "p.(=)" "" "0001003619" "00007399" "50" "813" "-2" "813" "-2" "c.813-2A>G" "r.spl?" "p.?" "" "0001015607" "00007399" "50" "23520" "0" "23520" "0" "c.*21894T>C" "r.(=)" "p.(=)" "" "0001015608" "00007399" "30" "16321" "0" "16321" "0" "c.*14695C>T" "r.(=)" "p.(=)" "" "0001027048" "00007399" "30" "23497" "0" "23497" "0" "c.*21871A>C" "r.(=)" "p.(=)" "" "0001027049" "00007399" "30" "16304" "0" "16304" "0" "c.*14678C>T" "r.(=)" "p.(=)" "" "0001027050" "00007399" "70" "14170" "0" "14170" "0" "c.*12544T>C" "r.(=)" "p.(=)" "" "0001042133" "00007399" "30" "16154" "0" "16154" "0" "c.*14528C>T" "r.(=)" "p.(=)" "" "0001042134" "00007399" "50" "14149" "0" "14149" "0" "c.*12523G>A" "r.(=)" "p.(=)" "" "0001042135" "00007399" "50" "1109" "3" "1109" "6" "c.1109+3_1109+6del" "r.(?)" "p.(Glu369Glyfs*12)" "" "0001042136" "00007399" "30" "1082" "0" "1082" "0" "c.1082G>A" "r.(?)" "p.(Arg361His)" "" "0001042137" "00007399" "30" "929" "-11" "929" "-3" "c.929-11_929-3del" "r.spl?" "p.?" "" "0001046667" "00007399" "50" "23565" "0" "23565" "0" "c.*21939T>C" "r.(=)" "p.(=)" "" "0001056155" "00007399" "70" "16201" "0" "16207" "0" "c.*14575_*14581del" "r.(=)" "p.(=)" "" "0001056156" "00007399" "50" "15055" "0" "15055" "0" "c.*13429A>C" "r.(=)" "p.(=)" "" "0001056157" "00007399" "70" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Gln241*)" "" "0001056158" "00007399" "50" "440" "0" "440" "0" "c.440C>T" "r.(?)" "p.(Thr147Ile)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 39 "{{screeningid}}" "{{variantid}}" "0000108318" "0000174234" "0000108319" "0000174235" "0000108319" "0000174237" "0000108320" "0000174236" "0000108321" "0000174238" "0000265242" "0000595846" "0000265243" "0000595847" "0000265244" "0000595848" "0000265245" "0000595849" "0000265246" "0000595850" "0000265247" "0000595851" "0000265247" "0000595853" "0000265248" "0000595852" "0000265252" "0000595857" "0000265253" "0000595858" "0000265253" "0000595873" "0000265254" "0000595859" "0000265254" "0000595874" "0000265255" "0000595860" "0000265256" "0000595861" "0000265257" "0000595862" "0000265258" "0000595863" "0000265259" "0000595864" "0000265260" "0000595865" "0000265261" "0000595866" "0000265261" "0000595875" "0000265262" "0000595867" "0000265262" "0000595876" "0000265263" "0000595868" "0000265264" "0000595869" "0000265264" "0000595877" "0000265265" "0000595870" "0000265266" "0000595871" "0000265267" "0000595872" "0000265267" "0000595879" "0000387123" "0000814984" "0000387151" "0000815012" "0000387151" "0000815022" "0000436698" "0000927814"