### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FAAH2) # 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}}" "FAAH2" "fatty acid amide hydrolase 2" "X" "p11.1" "unknown" "NG_013232.1" "UD_132084424929" "" "https://www.LOVD.nl/FAAH2" "" "1" "26440" "158584" "300654" "1" "1" "1" "1" "This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. 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" "http://databases.lovd.nl/shared/refseq/FAAH2_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2017-09-04 16:23:45" "00000" "2025-02-07 18:57:27" ## 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}}" "00000658" "FAAH2" "fatty acid amide hydrolase 2" "001" "NM_174912.3" "" "NP_777572.2" "" "" "" "-149" "1863" "1599" "57313110" "57515629" "00000" "2012-09-13 12:44:48" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "00189" "TSC2" "tuberous sclerosis, type 2" "AD" "613254" "" "" "" "00006" "2013-09-05 22:00:33" "00006" "2022-08-19 09:49:18" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00212" "SCZD" "schizophrenia (SCZD)" "AD" "181500" "" "" "" "00006" "2013-09-24 21:08:12" "00006" "2021-12-10 21:51:32" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 11 "{{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" "" "" "" "" "00024223" "" "" "" "2" "" "00006" "{PMID:Wibley 2010:20655035}" "2-generation family, 2 affecteds" "M" "" "" "" "0" "" "" "" "" "00117941" "" "" "" "6" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377459-Pat?" "00117942" "" "" "" "17" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377460-Pat?" "00117943" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377461-Pat?" "00117944" "" "" "" "42" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377462-Pat?" "00117945" "" "" "" "1" "" "01997" "" "" "M" "no" "" "" "0" "" "" "" "" "00181202" "" "" "" "1" "" "01836" "" "" "M" "no" "" "" "0" "" "" "" "" "00296608" "" "" "" "1" "" "00006" "{PMID:Kemp 2011:21169334}, {PMID:Taylor 2014:25058219}" "" "M" "" "Croatia (Hrvatska)" "9m" "0" "" "" "" "Pat41" "00449872" "" "" "" "1" "" "04653" "" "" "M" "" "" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00024223" "00187" "00117941" "00187" "00117942" "00187" "00117943" "00187" "00117944" "00187" "00117945" "00189" "00296608" "00198" "00449872" "00212" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00187, 00189, 00198, 00212, 01157 ## Count = 10 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Development/Cognition}}" "{{Phenotype/Seizures}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/TSC}}" "{{Phenotype/Development_delay_global/HPO_0001263}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Hypertension/HPO_0000822}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000020330" "00187" "00024223" "00006" "Familial, X-linked recessive" "" "degenerative eye disease" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "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" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093319" "00187" "00117941" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093320" "00187" "00117942" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093321" "00187" "00117943" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093322" "00187" "00117944" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093323" "00189" "00117945" "01997" "Familial, X-linked recessive" "" "endocannabinoid system alterations" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000224014" "00198" "00296608" "00006" "Unknown" "9m" "deceased; muscle affected; central nervous system affected; heart affected; liver not affected; raised CK" "1d" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "multiple mitochondrial respiratory chain complex deficiency" "" "0000339019" "00212" "00449872" "04653" "Isolated (sporadic)" "" "Schizophrenia, Increased circulating prolactin concentration, Global developmental delay, Autism" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 11 "{{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" "" "" "0000024215" "00024223" "1" "00006" "00006" "2014-11-04 22:36:57" "" "" "arrayCGH;RT-PCR;SEQ" "DNA;RNA" "" "" "0000118404" "00117941" "1" "00124" "00006" "2009-04-08 14:01:02" "" "" "SEQ" "DNA" "" "" "0000118405" "00117942" "1" "00124" "00006" "2009-04-08 14:01:02" "" "" "SEQ" "DNA" "" "" "0000118406" "00117943" "1" "00124" "00006" "2009-04-08 14:01:02" "" "" "SEQ" "DNA" "" "" "0000118407" "00117944" "1" "00124" "00006" "2009-04-08 14:01:02" "" "" "SEQ" "DNA" "" "" "0000118408" "00117945" "1" "01997" "01997" "2015-01-14 19:21:48" "00006" "2015-01-16 16:01:12" "SEQ-NG-I" "DNA" "" "" "0000182160" "00181202" "1" "01836" "01836" "2018-10-04 10:48:11" "" "" "SEQ-NG" "DNA" "blood" "" "0000297718" "00296608" "1" "00006" "00006" "2020-04-08 15:05:07" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000451468" "00449872" "1" "04653" "04653" "2024-05-21 17:07:11" "" "" "SEQ-NG-I" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{geneid}}" "0000024215" "FAAH2" "0000118404" "FAAH2" "0000118405" "FAAH2" "0000118406" "FAAH2" "0000118407" "FAAH2" "0000118408" "FAAH2" "0000182160" "BCOR" "0000182160" "FAAH2" "0000182160" "MAGEB2" "0000182160" "NNAT" ## 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 = 47 "{{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}}" "0000001974" "0" "50" "X" "57458228" "57458229" "ins" "0" "00037" "FAAH2_000010" "g.57458228_57458229insTTTTTTTTT" "" "" "" "" "" "Germline" "" "" "" "" "" "g.57431795_57431796insTTTTTTTTT" "" "VUS" "" "0000001975" "0" "50" "X" "57458221" "57458228" "dup" "0" "00037" "FAAH2_000011" "g.57458221_57458228dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.57431788_57431795dup" "" "VUS" "" "0000003012" "0" "50" "X" "57458219" "57458219" "dup" "0" "00037" "FAAH2_000020" "g.57458219dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.57431786dup" "" "VUS" "" "0000007009" "20" "30" "X" "57336824" "57336824" "subst" "0" "00037" "FAAH2_000005" "g.57336824T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.57310391T>C" "" "likely benign" "" "0000007010" "20" "50" "X" "57405163" "57405163" "subst" "0.980056" "00037" "FAAH2_000006" "g.57405163T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.57378730T>C" "" "VUS" "" "0000007011" "20" "50" "X" "57474943" "57474943" "subst" "0.97785" "00037" "FAAH2_000013" "g.57474943A>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.57448510A>T" "" "VUS" "" "0000007012" "20" "50" "X" "57475132" "57475132" "subst" "0.645903" "00037" "FAAH2_000002" "g.57475132T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.57448699T>C" "" "VUS" "" "0000007013" "20" "50" "X" "57515439" "57515439" "subst" "0" "00037" "FAAH2_000007" "g.57515439T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.57489006T>C" "" "VUS" "" "0000009091" "20" "50" "X" "57405163" "57405163" "subst" "0.980056" "00037" "FAAH2_000006" "g.57405163T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.57378730T>C" "" "VUS" "" "0000009092" "20" "50" "X" "57458221" "57458228" "dup" "0" "00037" "FAAH2_000011" "g.57458221_57458228dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.57431788_57431795dup" "" "VUS" "" "0000009093" "20" "50" "X" "57474943" "57474943" "subst" "0.97785" "00037" "FAAH2_000013" "g.57474943A>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.57448510A>T" "" "VUS" "" "0000009094" "20" "50" "X" "57475132" "57475132" "subst" "0.645903" "00037" "FAAH2_000002" "g.57475132T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.57448699T>C" "" "VUS" "" "0000009095" "20" "50" "X" "57515439" "57515439" "subst" "0" "00037" "FAAH2_000007" "g.57515439T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.57489006T>C" "" "VUS" "" "0000010999" "0" "50" "X" "57458187" "57458189" "del" "0" "00037" "FAAH2_000019" "g.57458187_57458189del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.57431754_57431756del" "" "VUS" "" "0000014975" "20" "30" "X" "57336824" "57336824" "subst" "0" "00037" "FAAH2_000005" "g.57336824T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.57310391T>C" "" "likely benign" "" "0000046753" "0" "70" "X" "57471133" "57476624" "" "0" "00006" "FAAH2_000021" "g.(57458471_57471133)_(57476624_57515189)del" "" "{PMID:Wibley 2010:20655035}" "" "hg18 chrX:g.57487858-57493349del" "not in 450 controls" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic" "" "0000194509" "1" "50" "X" "57313382" "57313382" "subst" "0.00723102" "00124" "FAAH2_000001" "g.57313382C>T" "6/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "recurrent, found 6 times" "Germline" "yes" "" "0" "" "" "g.57286949C>T" "" "VUS" "" "0000194510" "1" "30" "X" "57475132" "57475132" "subst" "0.645903" "00124" "FAAH2_000002" "g.57475132T>C" "17/208 cases" "{PMID:Tarpey 2009:19377476}" "" "P468P" "recurrent, found 17 times" "Germline" "yes" "" "0" "" "" "g.57448699T>C" "" "likely benign" "" "0000194511" "1" "30" "X" "57407432" "57407432" "subst" "3.09249E-5" "00124" "FAAH2_000003" "g.57407432G>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "V322V" "found once, nonrecurrent change" "Germline" "yes" "" "0" "" "" "g.57380999G>A" "" "likely benign" "" "0000194512" "1" "30" "X" "57313357" "57313357" "subst" "0.350224" "00124" "FAAH2_000004" "g.57313357T>C" "42/208 cases" "{PMID:Tarpey 2009:19377476}" "" "G33G" "recurrent, found 42 times" "Germline" "yes" "" "0" "" "" "g.57286924T>C" "" "likely benign" "" "0000194513" "21" "90" "X" "57475100" "57475100" "subst" "0.000522851" "01997" "FAAH2_000008" "g.57475100G>T" "0.0009238 (from ExAC)" "" "" "Ala458Ser" "" "Germline" "yes" "" "0" "" "" "g.57448667G>T" "" "pathogenic" "" "0000276528" "0" "50" "X" "57473443" "57473443" "subst" "0" "01943" "FAAH2_000031" "g.57473443G>T" "" "" "" "FAAH2(NM_174912.3):c.1199G>T (p.G400V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57447010G>T" "" "VUS" "" "0000276529" "0" "30" "X" "57515249" "57515249" "subst" "0.000427593" "01943" "FAAH2_000032" "g.57515249G>A" "" "" "" "FAAH2(NM_174912.3):c.1483G>A (p.G495R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57488816G>A" "" "likely benign" "" "0000276530" "0" "50" "X" "57515336" "57515336" "subst" "0" "01943" "FAAH2_000033" "g.57515336G>A" "" "" "" "FAAH2(NM_174912.3):c.1570G>A (p.G524R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57488903G>A" "" "VUS" "" "0000276531" "0" "30" "X" "57318978" "57318978" "subst" "5.68812E-6" "01943" "FAAH2_000023" "g.57318978C>T" "" "" "" "FAAH2(NM_174912.3):c.240C>T (p.D80=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57292545C>T" "" "likely benign" "" "0000276532" "0" "30" "X" "57358082" "57358082" "subst" "0.000145776" "01943" "FAAH2_000026" "g.57358082C>T" "" "" "" "FAAH2(NM_174912.3):c.464C>T (p.T155I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57331649C>T" "" "likely benign" "" "0000276533" "0" "30" "X" "57407370" "57407370" "subst" "0.000707829" "01943" "FAAH2_000028" "g.57407370T>G" "" "" "" "FAAH2(NM_174912.3):c.904T>G (p.L302V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57380937T>G" "" "likely benign" "" "0000334367" "0" "30" "X" "57319016" "57319016" "subst" "7.55129E-5" "01804" "FAAH2_000024" "g.57319016G>A" "" "" "" "FAAH2(NM_174912.3):c.275+3G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57292583G>A" "" "likely benign" "" "0000334368" "0" "50" "X" "57358061" "57358061" "subst" "0.000880914" "01804" "FAAH2_000025" "g.57358061G>A" "" "" "" "FAAH2(NM_174912.3):c.443G>A (p.(Arg148His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57331628G>A" "" "VUS" "" "0000334371" "0" "50" "X" "57458378" "57458378" "subst" "9.0936E-5" "01804" "FAAH2_000030" "g.57458378G>A" "" "" "" "FAAH2(NM_174912.3):c.1024G>A (p.(Gly342Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57431945G>A" "" "VUS" "" "0000406029" "20" "50" "X" "57407400" "57407400" "subst" "0.00014649" "01836" "FAAH2_000035" "g.57407400C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.57380967C>A" "" "VUS" "" "0000576812" "0" "30" "X" "57458442" "57458442" "subst" "3.97132E-5" "01943" "FAAH2_000037" "g.57458442T>C" "" "" "" "FAAH2(NM_174912.3):c.1088T>C (p.M363T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57432009T>C" "" "likely benign" "" "0000576813" "0" "30" "X" "57475022" "57475022" "subst" "0.00130704" "01804" "FAAH2_000038" "g.57475022G>T" "" "" "" "FAAH2(NM_174912.3):c.1294G>T (p.(Glu432Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57448589G>T" "" "likely benign" "" "0000576814" "0" "30" "X" "57475049" "57475049" "subst" "0" "01943" "FAAH2_000039" "g.57475049G>A" "" "" "" "FAAH2(NM_174912.3):c.1321G>A (p.D441N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57448616G>A" "" "likely benign" "" "0000576816" "0" "50" "X" "57475068" "57475068" "subst" "5.60532E-6" "01943" "FAAH2_000041" "g.57475068G>A" "" "" "" "FAAH2(NM_174912.3):c.1340G>A (p.G447D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57448635G>A" "" "VUS" "" "0000660362" "0" "50" "X" "57337118" "57337118" "subst" "1.70891E-5" "00006" "FAAH2_000043" "g.57337118T>C" "" "{PMID:Taylor 2014:25058219}" "" "" "" "Germline" "" "" "0" "" "" "g.57310685T>C" "" "VUS" "" "0000729083" "0" "30" "X" "57319016" "57319016" "subst" "7.55129E-5" "01943" "FAAH2_000024" "g.57319016G>A" "" "" "" "FAAH2(NM_174912.3):c.275+3G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729084" "0" "30" "X" "57474958" "57474958" "subst" "0" "01943" "FAAH2_000044" "g.57474958A>T" "" "" "" "FAAH2(NM_174912.3):c.1230A>T (p.G410=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729085" "0" "30" "X" "57475046" "57475046" "subst" "0" "01943" "FAAH2_000045" "g.57475046G>A" "" "" "" "FAAH2(NM_174912.3):c.1318G>A (p.V440M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729086" "0" "50" "X" "57515262" "57515262" "subst" "5.6187E-6" "02329" "FAAH2_000042" "g.57515262G>A" "" "" "" "FAAH2(NM_174912.4):c.1496G>A (p.G499D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810561" "0" "30" "X" "57313382" "57313382" "subst" "0.00723102" "01804" "FAAH2_000001" "g.57313382C>T" "" "" "" "FAAH2(NM_174912.3):c.124C>T (p.(Arg42Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810562" "0" "30" "X" "57405211" "57405211" "subst" "1.74682E-5" "01943" "FAAH2_000046" "g.57405211G>C" "" "" "" "FAAH2(NM_174912.3):c.870G>C (p.G290=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856719" "0" "30" "X" "57337050" "57337050" "subst" "5.80966E-6" "01943" "FAAH2_000047" "g.57337050T>C" "" "" "" "FAAH2(NM_174912.3):c.300T>C (p.A100=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867483" "0" "30" "X" "57313398" "57313398" "subst" "2.40804E-5" "01943" "FAAH2_000022" "g.57313398C>G" "" "" "" "FAAH2(NM_174912.3):c.140C>G (p.P47R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984778" "0" "30" "X" "57337106" "57337106" "subst" "0" "01804" "FAAH2_000048" "g.57337106A>G" "" "" "" "FAAH2(NM_174912.4):c.356A>G (p.(Asn119Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000985368" "21" "70" "X" "57475022" "57475022" "subst" "0.00130704" "04653" "FAAH2_000038" "g.57475022G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.57448589G>T" "" "likely pathogenic" "ACMG" "0001006887" "0" "30" "X" "57515207" "57515207" "subst" "1.13761E-5" "01804" "FAAH2_000049" "g.57515207G>A" "" "" "" "FAAH2(NM_174912.3):c.1441G>A (p.(Gly481Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes FAAH2 ## Count = 47 "{{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}}" "0000001974" "00000658" "50" "997" "-123" "997" "-122" "c.997-123_997-122insTTTTTTTTT" "r.(=)" "p.(=)" "" "0000001975" "00000658" "50" "997" "-130" "997" "-123" "c.997-130_997-123dup" "r.(=)" "p.(=)" "" "0000003012" "00000658" "50" "997" "-132" "997" "-132" "c.997-132dup" "r.(=)" "p.(=)" "" "0000007009" "00000658" "30" "276" "-202" "276" "-202" "c.276-202T>C" "r.(=)" "p.(=)" "2i" "0000007010" "00000658" "50" "822" "0" "822" "0" "c.822T>C" "r.(?)" "p.(=)" "" "0000007011" "00000658" "50" "1229" "-14" "1229" "-14" "c.1229-14A>T" "r.(=)" "p.(=)" "" "0000007012" "00000658" "50" "1404" "0" "1404" "0" "c.1404T>C" "r.(?)" "p.(=)" "" "0000007013" "00000658" "50" "1673" "0" "1673" "0" "c.*74T>C" "r.(=)" "p.(=)" "11" "0000009091" "00000658" "50" "822" "0" "822" "0" "c.822T>C" "r.(?)" "p.(=)" "" "0000009092" "00000658" "50" "997" "-130" "997" "-123" "c.997-130_997-123dup" "r.(=)" "p.(=)" "" "0000009093" "00000658" "50" "1229" "-14" "1229" "-14" "c.1229-14A>T" "r.(=)" "p.(=)" "" "0000009094" "00000658" "50" "1404" "0" "1404" "0" "c.1404T>C" "r.(?)" "p.(=)" "" "0000009095" "00000658" "50" "1673" "0" "1673" "0" "c.*74T>C" "r.(=)" "p.(=)" "11" "0000010999" "00000658" "50" "997" "-164" "997" "-162" "c.997-164_997-162del" "r.(=)" "p.(=)" "" "0000014975" "00000658" "30" "276" "-202" "276" "-202" "c.276-202T>C" "r.(=)" "p.(=)" "2i" "0000046753" "00000658" "70" "1117" "-2228" "1423" "1473" "c.(1116+1_1117-2228)_(1423+1473_1424-1)del" "r.[997_1423del, 1117_1423]del" "p.[Val334Serfs*9, Glu373Valfs*10]" "8i_10i" "0000194509" "00000658" "50" "124" "0" "124" "0" "c.124C>T" "r.(?)" "p.(Arg42Trp)" "" "0000194510" "00000658" "30" "1404" "0" "1404" "0" "c.1404T>C" "r.(?)" "p.(=)" "" "0000194511" "00000658" "30" "966" "0" "966" "0" "c.966G>A" "r.(?)" "p.(=)" "" "0000194512" "00000658" "30" "99" "0" "99" "0" "c.99T>C" "r.(?)" "p.(=)" "" "0000194513" "00000658" "90" "1372" "0" "1372" "0" "c.1372G>T" "r.(?)" "p.(Ala458Ser)" "" "0000276528" "00000658" "50" "1199" "0" "1199" "0" "c.1199G>T" "r.(?)" "p.(Gly400Val)" "" "0000276529" "00000658" "30" "1483" "0" "1483" "0" "c.1483G>A" "r.(?)" "p.(Gly495Arg)" "" "0000276530" "00000658" "50" "1570" "0" "1570" "0" "c.1570G>A" "r.(?)" "p.(Gly524Arg)" "" "0000276531" "00000658" "30" "240" "0" "240" "0" "c.240C>T" "r.(?)" "p.(Asp80=)" "" "0000276532" "00000658" "30" "464" "0" "464" "0" "c.464C>T" "r.(?)" "p.(Thr155Ile)" "" "0000276533" "00000658" "30" "904" "0" "904" "0" "c.904T>G" "r.(?)" "p.(Leu302Val)" "" "0000334367" "00000658" "30" "275" "3" "275" "3" "c.275+3G>A" "r.spl?" "p.?" "" "0000334368" "00000658" "50" "443" "0" "443" "0" "c.443G>A" "r.(?)" "p.(Arg148His)" "" "0000334371" "00000658" "50" "1024" "0" "1024" "0" "c.1024G>A" "r.(?)" "p.(Gly342Arg)" "" "0000406029" "00000658" "50" "934" "0" "934" "0" "c.934C>A" "r.(?)" "p.(His312Asn)" "" "0000576812" "00000658" "30" "1088" "0" "1088" "0" "c.1088T>C" "r.(?)" "p.(Met363Thr)" "" "0000576813" "00000658" "30" "1294" "0" "1294" "0" "c.1294G>T" "r.(?)" "p.(Glu432Ter)" "" "0000576814" "00000658" "30" "1321" "0" "1321" "0" "c.1321G>A" "r.(?)" "p.(Asp441Asn)" "" "0000576816" "00000658" "50" "1340" "0" "1340" "0" "c.1340G>A" "r.(?)" "p.(Gly447Asp)" "" "0000660362" "00000658" "50" "368" "0" "368" "0" "c.368T>C" "r.(?)" "p.(Phe123Ser)" "" "0000729083" "00000658" "30" "275" "3" "275" "3" "c.275+3G>A" "r.spl?" "p.?" "" "0000729084" "00000658" "30" "1230" "0" "1230" "0" "c.1230A>T" "r.(?)" "p.(Gly410=)" "" "0000729085" "00000658" "30" "1318" "0" "1318" "0" "c.1318G>A" "r.(?)" "p.(Val440Met)" "" "0000729086" "00000658" "50" "1496" "0" "1496" "0" "c.1496G>A" "r.(?)" "p.(Gly499Asp)" "" "0000810561" "00000658" "30" "124" "0" "124" "0" "c.124C>T" "r.(?)" "p.(Arg42Trp)" "" "0000810562" "00000658" "30" "870" "0" "870" "0" "c.870G>C" "r.(?)" "p.(Gly290=)" "" "0000856719" "00000658" "30" "300" "0" "300" "0" "c.300T>C" "r.(?)" "p.(Ala100=)" "" "0000867483" "00000658" "30" "140" "0" "140" "0" "c.140C>G" "r.(?)" "p.(Pro47Arg)" "" "0000984778" "00000658" "30" "356" "0" "356" "0" "c.356A>G" "r.(?)" "p.(Asn119Ser)" "" "0000985368" "00000658" "70" "1294" "0" "1294" "0" "c.1294G>T" "r.(?)" "p.(Glu432*)" "10" "0001006887" "00000658" "30" "1441" "0" "1441" "0" "c.1441G>A" "r.(?)" "p.(Gly481Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 24 "{{screeningid}}" "{{variantid}}" "0000000209" "0000001974" "0000000209" "0000001975" "0000000209" "0000003012" "0000000209" "0000007009" "0000000209" "0000007010" "0000000209" "0000007011" "0000000209" "0000007012" "0000000209" "0000007013" "0000000210" "0000009091" "0000000210" "0000009092" "0000000210" "0000009093" "0000000210" "0000009094" "0000000210" "0000009095" "0000000210" "0000010999" "0000000210" "0000014975" "0000024215" "0000046753" "0000118404" "0000194509" "0000118405" "0000194510" "0000118406" "0000194511" "0000118407" "0000194512" "0000118408" "0000194513" "0000182160" "0000406029" "0000297718" "0000660362" "0000451468" "0000985368"