### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MAMLD1) # 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}}" "MAMLD1" "mastermind-like domain containing 1" "X" "q28" "unknown" "NG_017093.2" "UD_132118460275" "" "https://www.LOVD.nl/MAMLD1" "" "1" "2568" "10046" "300120" "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." "" "" "" "1" "" "" "-1" "" "-1" "00000" "2009-11-10 00:00:00" "00006" "2019-05-03 12:37:29" "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}}" "00000494" "MAMLD1" "transcript variant 2" "002" "NM_005491.3" "" "NP_005482.2" "" "" "" "-63" "4544" "2325" "149613720" "149682448" "00000" "2012-09-13 12:23:38" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{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" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02185" "HYSP2" "hypospadias, type 2, X-linked (HYSP-2)" "XLR" "300758" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02247" "MPS2" "mucopolysaccharidosis, type II (MPS-2, Hunter syndrome)" "XLR" "309900" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05580" "MPS" "mucopolysaccharidosis (MPS)" "" "" "" "" "" "00006" "2019-03-01 09:43:46" "" "" "05597" "DSD" "disorder of sex development (DSD)" "" "" "" "" "" "00006" "2019-04-28 14:45:24" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "MAMLD1" "02185" ## Individuals ## Do not remove or alter this header ## ## Count = 16 "{{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" "" "" "" "" "00173203" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173422" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173517" "" "" "" "17" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173518" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00231439" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "M" "" "" "" "0" "" "" "" "Pat51" "00231451" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "" "" "" "" "0" "" "" "" "Pat70" "00231465" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "rF" "" "" "" "0" "" "" "" "Pat94" "00231478" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "" "" "" "" "0" "" "" "" "Pat124" "00231497" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "M" "" "" "" "0" "" "" "" "Pat167" "00231507" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "" "" "" "" "0" "" "" "" "Pat189" "00231508" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "" "" "" "" "0" "" "" "" "Pat191" "00231532" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "M" "" "" "" "0" "" "" "" "Pat258" "00455506" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2012:22492741}, {PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "" "Pat2;H19" "00457145" "" "" "" "1" "" "00006" "{PMID:Jezela-Stanek 2021:33290290}" "" "M" "" "Poland" "" "0" "" "" "" "Pat1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 16 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00173203" "00187" "00173422" "00187" "00173517" "00187" "00173518" "00187" "00231439" "05597" "00231451" "05597" "00231465" "05597" "00231478" "05597" "00231497" "05597" "00231507" "05597" "00231508" "05597" "00231532" "05597" "00455506" "05580" "00457145" "02247" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00187, 01157, 02185, 02247, 05580, 05597 ## Count = 16 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{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" "" "" "" "" "" "" "" "0000138067" "00187" "00173203" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000138286" "00187" "00173422" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000138381" "00187" "00173517" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000138382" "00187" "00173518" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000173830" "05597" "00231439" "00006" "Unknown" "" "disorders of androgen synthesis or action" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "0000173842" "05597" "00231451" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "0000173856" "05597" "00231465" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "0000173869" "05597" "00231478" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "0000173888" "05597" "00231497" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "0000173898" "05597" "00231507" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "0000173899" "05597" "00231508" "00006" "Unknown" "" "partial gonadal dysgenesis" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "0000173923" "05597" "00231532" "00006" "Unknown" "" "hypospadias" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "0000344060" "05580" "00455506" "00006" "Unknown" "05y" "see paper; ..." "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" "0000345644" "02247" "00457145" "00006" "Familial, X-linked recessive" "" "see paper ...(detailed)" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" ## Screenings ## Do not remove or alter this header ## ## Count = 16 "{{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" "" "" "0000174086" "00173203" "1" "00124" "00006" "2009-11-10 15:10:19" "00006" "2010-10-24 20:36:56" "SEQ" "DNA" "" "" "0000174305" "00173422" "1" "00124" "00006" "2009-11-10 15:10:19" "00006" "2010-10-24 20:36:56" "SEQ" "DNA" "" "" "0000174400" "00173517" "1" "00124" "00006" "2009-11-10 15:10:19" "00006" "2010-10-24 20:36:56" "SEQ" "DNA" "" "" "0000174401" "00173518" "1" "00124" "00006" "2009-11-10 15:10:19" "00006" "2010-10-24 20:36:56" "SEQ" "DNA" "" "" "0000232538" "00231439" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232550" "00231451" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232564" "00231465" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232577" "00231478" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232596" "00231497" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232606" "00231507" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232607" "00231508" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232631" "00231532" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000457120" "00455506" "1" "00006" "00006" "2024-10-10 19:34:59" "" "" "arraySNP;PCR" "DNA" "" "" "0000458763" "00457145" "1" "00006" "00006" "2024-10-31 21:30:41" "" "" "arrayCGH;MAPH" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{geneid}}" "0000174305" "CT45A5" "0000174400" "MAGEB10" "0000174401" "CFP" "0000232538" "MAMLD1" "0000232550" "MAMLD1" "0000232564" "MAMLD1" "0000232577" "MAMLD1" "0000232596" "MAMLD1" "0000232606" "MAMLD1" "0000232607" "MAMLD1" "0000232631" "MAMLD1" "0000457120" "IDS" "0000458763" "IDS" ## 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 = 110 "{{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}}" "0000002196" "0" "50" "X" "149637957" "149637958" "del" "0" "00037" "MAMLD1_000004" "g.149637957_149637958del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.150469655_150469656del" "" "VUS" "" "0000007852" "20" "50" "X" "149613493" "149613493" "subst" "0" "00037" "MAMLD1_000008" "g.149613493C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.150445227=" "" "VUS" "" "0000007853" "20" "50" "X" "149613617" "149613617" "subst" "0" "00037" "MAMLD1_000009" "g.149613617T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.150445351=" "" "VUS" "" "0000007854" "20" "50" "X" "149630848" "149630848" "subst" "0" "00037" "MAMLD1_000001" "g.149630848T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.150462582=" "" "VUS" "" "0000007855" "20" "50" "X" "149641802" "149641802" "subst" "0" "00037" "MAMLD1_000005" "g.149641802A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.150473530=" "" "VUS" "" "0000010015" "20" "50" "X" "149613617" "149613617" "subst" "0" "00037" "MAMLD1_000009" "g.149613617T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.150445351=" "" "VUS" "" "0000010016" "20" "50" "X" "149630848" "149630848" "subst" "0" "00037" "MAMLD1_000001" "g.149630848T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.150462582=" "" "VUS" "" "0000010017" "20" "50" "X" "149641802" "149641802" "subst" "0" "00037" "MAMLD1_000005" "g.149641802A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.150473530=" "" "VUS" "" "0000015826" "20" "50" "X" "149613363" "149613363" "subst" "0" "00037" "MAMLD1_000012" "g.149613363A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.150445097=" "" "VUS" "" "0000282362" "0" "10" "X" "149680554" "149680554" "subst" "0.623159" "02325" "MAMLD1_000025" "g.149680554C>T" "" "" "" "MAMLD1(NM_001177465.3):c.2208C>T (p.S736=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150512284=" "" "benign" "" "0000291408" "0" "30" "X" "149631052" "149631052" "subst" "5.03826E-5" "01943" "MAMLD1_000013" "g.149631052G>A" "" "" "" "MAMLD1(NM_005491.4):c.111G>A (p.S37=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150462786G>A" "" "likely benign" "" "0000291409" "0" "30" "X" "149639649" "149639649" "subst" "0" "01943" "MAMLD1_000019" "g.149639649C>A" "" "" "" "MAMLD1(NM_005491.4):c.1804C>A (p.Q602K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150471377C>A" "" "likely benign" "" "0000291410" "0" "30" "X" "149680307" "149680307" "subst" "4.8141E-5" "01943" "MAMLD1_000022" "g.149680307G>A" "" "" "" "MAMLD1(NM_001177465.3):c.1961G>A (p.R654Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150512037G>A" "" "likely benign" "" "0000291411" "0" "30" "X" "149671723" "149671723" "subst" "0.00275193" "01943" "MAMLD1_000020" "g.149671723C>A" "" "" "" "MAMLD1(NM_005491.4):c.2220C>A (p.G740=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150503453C>A" "" "likely benign" "" "0000291412" "0" "30" "X" "149681118" "149681118" "subst" "0.00145791" "01943" "MAMLD1_000030" "g.149681118C>T" "" "" "" "MAMLD1(NM_001177465.3):c.2772C>T (p.D924=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150512848C>T" "" "likely benign" "" "0000291413" "0" "30" "X" "149681200" "149681200" "subst" "5.2086E-5" "01943" "MAMLD1_000031" "g.149681200T>G" "" "" "" "MAMLD1(NM_001177465.3):c.2854T>G (p.L952V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150512930T>G" "" "likely benign" "" "0000291414" "0" "50" "X" "149638391" "149638391" "subst" "0" "01943" "MAMLD1_000014" "g.149638391G>C" "" "" "" "MAMLD1(NM_005491.4):c.546G>C (p.E182D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150470119G>C" "" "VUS" "" "0000291415" "0" "10" "X" "149638450" "149638450" "subst" "0.00111892" "01943" "MAMLD1_000015" "g.149638450C>T" "" "" "" "MAMLD1(NM_001177465.1):c.530C>T (p.(Thr177Met)), MAMLD1(NM_005491.4):c.605C>T (p.T202M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150470178C>T" "" "benign" "" "0000335853" "0" "50" "X" "149638811" "149638811" "subst" "0.000118375" "01804" "MAMLD1_000016" "g.149638811A>C" "" "" "" "MAMLD1(NM_001177465.1):c.891A>C (p.(Gln297His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150470539A>C" "" "VUS" "" "0000335854" "0" "50" "X" "149639651" "149639659" "dup" "0" "01804" "MAMLD1_000018" "g.149639651_149639659dup" "" "" "" "MAMLD1(NM_001177465.1):c.1722_1723insCAGCAGCAA (p.(Gln579_Gln581dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150471379_150471387dup" "" "VUS" "" "0000335856" "0" "30" "X" "149671795" "149671795" "subst" "0.00216616" "01804" "MAMLD1_000021" "g.149671795A>T" "" "" "" "MAMLD1(NM_005491.4):c.2284+8A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150503525A>T" "" "likely benign" "" "0000335857" "0" "30" "X" "149680315" "149680315" "subst" "0" "01804" "MAMLD1_000023" "g.149680315G>T" "" "" "" "MAMLD1(NM_001177465.1):c.1969G>T (p.(Ala657Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150512045G>T" "" "likely benign" "" "0000335858" "0" "30" "X" "149680355" "149680355" "subst" "0.00325355" "01804" "MAMLD1_000024" "g.149680355C>T" "" "" "" "MAMLD1(NM_001177465.1):c.2009C>T (p.(Thr670Ile)), MAMLD1(NM_001177465.3):c.2009C>T (p.T670I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150512085C>T" "" "likely benign" "" "0000335859" "0" "50" "X" "149680697" "149680697" "subst" "0.000285878" "01804" "MAMLD1_000026" "g.149680697C>T" "" "" "" "MAMLD1(NM_001177465.1):c.2351C>T (p.(Ala784Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150512427C>T" "" "VUS" "" "0000335860" "0" "30" "X" "149680832" "149680832" "subst" "0.0224182" "01804" "MAMLD1_000027" "g.149680832C>T" "" "" "" "MAMLD1(NM_001177465.1):c.2486C>T (p.(Ala829Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150512562C>T" "" "likely benign" "" "0000335861" "0" "50" "X" "149680843" "149680843" "subst" "0.000982557" "01804" "MAMLD1_000028" "g.149680843C>A" "" "" "" "MAMLD1(NM_001177465.1):c.2497C>A (p.(Gln833Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150512573C>A" "" "VUS" "" "0000339147" "0" "70" "X" "149638516" "149638516" "subst" "0" "02327" "MAMLD1_000032" "g.149638516C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150470244C>A" "" "likely pathogenic" "" "0000401165" "1" "50" "X" "149639392" "149639392" "subst" "0" "00124" "MAMLD1_000036" "g.149639392C>T" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "T516M" "found once, nonrecurrent change; variant and/or predicted effect could not be not confirmed by curators\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000401166" "1" "50" "X" "149638052" "149638052" "subst" "0" "00124" "MAMLD1_000033" "g.149638052C>T" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "G69G" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.150469780C>T" "" "VUS" "" "0000401167" "1" "50" "X" "149638701" "149638701" "subst" "0" "00124" "MAMLD1_000034" "g.149638701C>T" "17/208 cases" "{PMID:Tarpey 2009:19377476}" "" "P286S" "recurrent, found 17 times; variant and/or predicted effect could not be not confirmed by curators" "Germline" "" "" "0" "" "" "g.150470429C>T" "" "VUS" "" "0000401168" "1" "50" "X" "149639325" "149639325" "subst" "0" "00124" "MAMLD1_000035" "g.149639325C>T" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "P494S" "found once, nonrecurrent change; variant and/or predicted effect could not be not confirmed by curators" "Germline" "" "" "0" "" "" "g.150471053C>T" "" "VUS" "" "0000475016" "20" "90" "X" "149638986" "149638986" "subst" "0" "00006" "MAMLD1_000038" "g.149638986C>T" "" "{PMID:Eggers 2016:27899157}" "" "NM_001177466:c.C1066T" "" "Germline" "" "" "0" "" "46,XY" "g.150470714C>T" "" "pathogenic" "" "0000475017" "20" "50" "X" "149680832" "149680832" "subst" "0.0224182" "00006" "MAMLD1_000027" "g.149680832C>T" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.150512562C>T" "" "VUS" "" "0000475018" "20" "90" "X" "149638986" "149638986" "subst" "0" "00006" "MAMLD1_000038" "g.149638986C>T" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.150470714C>T" "" "pathogenic" "" "0000475019" "20" "50" "X" "149639544" "149639544" "subst" "0.0015225" "00006" "MAMLD1_000040" "g.149639544C>T" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.150471272C>T" "" "VUS" "" "0000475020" "20" "90" "X" "149638986" "149638986" "subst" "0" "00006" "MAMLD1_000038" "g.149638986C>T" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.150470714C>T" "" "pathogenic" "" "0000475021" "20" "90" "X" "149639415" "149639415" "subst" "0" "00006" "MAMLD1_000039" "g.149639415C>T" "" "{PMID:Eggers 2016:27899157}" "" "" "" "De novo" "" "" "0" "" "46,XY" "g.150471143C>T" "" "pathogenic" "" "0000475022" "20" "50" "X" "149638054" "149638054" "subst" "7.29808E-5" "00006" "MAMLD1_000037" "g.149638054A>G" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.150469782A>G" "" "VUS" "" "0000475023" "20" "50" "X" "149681321" "149681321" "subst" "3.1567E-5" "00006" "MAMLD1_000041" "g.149681321C>T" "" "{PMID:Eggers 2016:27899157}" "" "NM_001177465:c.C2975T (T992I)" "" "Germline" "" "" "0" "" "46,XY" "g.150513051C>T" "" "VUS" "" "0000574096" "0" "50" "X" "149638102" "149638102" "subst" "5.60746E-6" "02329" "MAMLD1_000042" "g.149638102C>T" "" "" "" "MAMLD1(NM_005491.5):c.257C>T (p.P86L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150469830C>T" "" "VUS" "" "0000574097" "0" "30" "X" "149638206" "149638206" "subst" "0.000123078" "01804" "MAMLD1_000043" "g.149638206G>A" "" "" "" "MAMLD1(NM_001177465.1):c.286G>A (p.(Ala96Thr)), MAMLD1(NM_005491.4):c.361G>A (p.A121T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150469934G>A" "" "likely benign" "" "0000574098" "0" "30" "X" "149638227" "149638227" "subst" "0" "01943" "MAMLD1_000044" "g.149638227T>A" "" "" "" "MAMLD1(NM_005491.4):c.382T>A (p.S128T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150469955T>A" "" "likely benign" "" "0000574099" "0" "30" "X" "149638292" "149638292" "subst" "0" "01943" "MAMLD1_000045" "g.149638292G>T" "" "" "" "MAMLD1(NM_005491.4):c.447G>T (p.Q149H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150470020G>T" "" "likely benign" "" "0000574100" "0" "30" "X" "149638354" "149638354" "subst" "6.16095E-5" "01804" "MAMLD1_000046" "g.149638354C>T" "" "" "" "MAMLD1(NM_001177465.1):c.434C>T (p.(Pro145Leu)), MAMLD1(NM_005491.4):c.509C>T (p.P170L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150470082C>T" "" "likely benign" "" "0000574101" "0" "30" "X" "149638450" "149638450" "subst" "0.00111892" "01804" "MAMLD1_000015" "g.149638450C>T" "" "" "" "MAMLD1(NM_001177465.1):c.530C>T (p.(Thr177Met)), MAMLD1(NM_005491.4):c.605C>T (p.T202M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150470178C>T" "" "likely benign" "" "0000574102" "0" "30" "X" "149638757" "149638757" "subst" "0.000315122" "01943" "MAMLD1_000047" "g.149638757C>A" "" "" "" "MAMLD1(NM_005491.4):c.912C>A (p.A304=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150470485C>A" "" "likely benign" "" "0000574103" "0" "30" "X" "149638771" "149638771" "subst" "0.000247725" "01943" "MAMLD1_000048" "g.149638771C>T" "" "" "" "MAMLD1(NM_005491.4):c.926C>T (p.A309V, p.(Ala309Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150470499C>T" "" "likely benign" "" "0000574104" "0" "30" "X" "149638886" "149638886" "subst" "0.00529311" "01804" "MAMLD1_000049" "g.149638886C>A" "" "" "" "MAMLD1(NM_005491.3):c.1041C>A (p.(His347Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150470614C>A" "" "likely benign" "" "0000574105" "0" "10" "X" "149639136" "149639136" "subst" "0.000387014" "01943" "MAMLD1_000050" "g.149639136C>T" "" "" "" "MAMLD1(NM_005491.4):c.1291C>T (p.L431F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150470864C>T" "" "benign" "" "0000574106" "0" "30" "X" "149639181" "149639181" "subst" "5.60343E-6" "01943" "MAMLD1_000051" "g.149639181G>A" "" "" "" "MAMLD1(NM_005491.4):c.1336G>A (p.A446T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150470909G>A" "" "likely benign" "" "0000574107" "0" "30" "X" "149639352" "149639352" "subst" "0" "01804" "MAMLD1_000052" "g.149639352G>T" "" "" "" "MAMLD1(NM_001177465.1):c.1432G>T (p.(Ala478Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150471080G>T" "" "likely benign" "" "0000574108" "0" "30" "X" "149639544" "149639544" "subst" "0.0015225" "01943" "MAMLD1_000040" "g.149639544C>T" "" "" "" "MAMLD1(NM_005491.4):c.1699C>T (p.P567S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150471272C>T" "" "likely benign" "" "0000574110" "0" "30" "X" "149671652" "149671652" "subst" "0.000134439" "01943" "MAMLD1_000054" "g.149671652G>A" "" "" "" "MAMLD1(NM_005491.4):c.2149G>A (p.G717S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150503382G>A" "" "likely benign" "" "0000574111" "0" "30" "X" "149671778" "149671778" "subst" "0" "01943" "MAMLD1_000055" "g.149671778G>A" "" "" "" "MAMLD1(NM_005491.3):c.2275G>A (p.(Asp759Asn)), MAMLD1(NM_005491.4):c.2275G>A (p.D759N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150503508G>A" "" "likely benign" "" "0000574112" "0" "30" "X" "149680407" "149680407" "subst" "0" "01804" "MAMLD1_000056" "g.149680407C>A" "" "" "" "MAMLD1(NM_001177465.1):c.2061C>A (p.(His687Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150512137C>A" "" "likely benign" "" "0000574113" "0" "30" "X" "149680801" "149680801" "subst" "0" "01943" "MAMLD1_000057" "g.149680801C>T" "" "" "" "MAMLD1(NM_001177465.3):c.2455C>T (p.P819S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150512531C>T" "" "likely benign" "" "0000574115" "0" "30" "X" "149681076" "149681076" "subst" "3.12533E-5" "01943" "MAMLD1_000059" "g.149681076G>A" "" "" "" "MAMLD1(NM_001177465.3):c.2730G>A (p.P910=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150512806G>A" "" "likely benign" "" "0000574116" "0" "30" "X" "149681090" "149681090" "subst" "0.00320847" "01804" "MAMLD1_000060" "g.149681090A>C" "" "" "" "MAMLD1(NM_001177465.1):c.2744A>C (p.(Asp915Ala)), MAMLD1(NM_001177465.3):c.2744A>C (p.D915A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150512820A>C" "" "likely benign" "" "0000574117" "0" "50" "X" "149681131" "149681131" "subst" "3.12419E-5" "01804" "MAMLD1_000061" "g.149681131C>A" "" "" "" "MAMLD1(NM_001177465.3):c.2785C>A (p.(Pro929Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150512861C>A" "" "VUS" "" "0000619114" "0" "30" "X" "149613800" "149613800" "subst" "4.48999E-5" "01943" "MAMLD1_000062" "g.149613800T>C" "" "" "" "MAMLD1(NM_005491.4):c.18T>C (p.S6=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150445534T>C" "" "likely benign" "" "0000619115" "0" "30" "X" "149638206" "149638206" "subst" "0.000123078" "01943" "MAMLD1_000043" "g.149638206G>A" "" "" "" "MAMLD1(NM_001177465.1):c.286G>A (p.(Ala96Thr)), MAMLD1(NM_005491.4):c.361G>A (p.A121T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150469934G>A" "" "likely benign" "" "0000619116" "0" "50" "X" "149638212" "149638212" "subst" "0" "01943" "MAMLD1_000063" "g.149638212G>A" "" "" "" "MAMLD1(NM_005491.4):c.367G>A (p.G123R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150469940G>A" "" "VUS" "" "0000619117" "0" "30" "X" "149638703" "149638703" "subst" "0" "01804" "MAMLD1_000064" "g.149638703G>T" "" "" "" "MAMLD1(NM_001177465.1):c.783G>T (p.(Gln261His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150470431G>T" "" "likely benign" "" "0000619118" "0" "30" "X" "149638740" "149638740" "subst" "0.000427197" "01804" "MAMLD1_000066" "g.149638740C>G" "" "" "" "MAMLD1(NM_001177465.1):c.820C>G (p.(Pro274Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150470468C>G" "" "likely benign" "" "0000619119" "0" "30" "X" "149638754" "149638754" "subst" "2.25128E-5" "01943" "MAMLD1_000067" "g.149638754C>T" "" "" "" "MAMLD1(NM_005491.4):c.909C>T (p.H303=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150470482C>T" "" "likely benign" "" "0000619120" "0" "30" "X" "149638883" "149638883" "subst" "0.0004597" "01943" "MAMLD1_000068" "g.149638883A>T" "" "" "" "MAMLD1(NM_005491.4):c.1038A>T (p.P346=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150470611A>T" "" "likely benign" "" "0000619121" "0" "10" "X" "149639348" "149639350" "dup" "0" "01943" "MAMLD1_000069" "g.149639348_149639350dup" "" "" "" "MAMLD1(NM_005491.4):c.1503_1505dupGCA (p.Q502dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150471076_150471078dup" "" "benign" "" "0000619122" "0" "30" "X" "149680679" "149680679" "subst" "0.00114073" "01804" "MAMLD1_000070" "g.149680679A>G" "" "" "" "MAMLD1(NM_001177465.1):c.2333A>G (p.(Asn778Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150512409A>G" "" "likely benign" "" "0000624462" "0" "30" "X" "149638704" "149638704" "subst" "2.81216E-5" "01943" "MAMLD1_000065" "g.149638704G>A" "" "" "" "MAMLD1(NM_005491.4):c.859G>A (p.A287T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150470432G>A" "" "likely benign" "" "0000624463" "0" "30" "X" "149681087" "149681087" "subst" "2.08344E-5" "01943" "MAMLD1_000071" "g.149681087C>T" "" "" "" "MAMLD1(NM_001177465.3):c.2741C>T (p.T914M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150512817C>T" "" "likely benign" "" "0000659127" "0" "30" "X" "149638054" "149638054" "subst" "7.29808E-5" "01943" "MAMLD1_000037" "g.149638054A>G" "" "" "" "MAMLD1(NM_005491.4):c.209A>G (p.Q70R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150469782A>G" "" "likely benign" "" "0000659128" "0" "50" "X" "149638054" "149638054" "subst" "7.29808E-5" "02327" "MAMLD1_000037" "g.149638054A>G" "" "" "" "MAMLD1(NM_005491.4):c.209A>G (p.Q70R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150469782A>G" "" "VUS" "" "0000659129" "0" "30" "X" "149639582" "149639582" "subst" "8.43493E-5" "01943" "MAMLD1_000072" "g.149639582G>A" "" "" "" "MAMLD1(NM_005491.4):c.1737G>A (p.T579=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150471310G>A" "" "likely benign" "" "0000659130" "0" "30" "X" "149671756" "149671756" "subst" "0.000202883" "01943" "MAMLD1_000073" "g.149671756C>T" "" "" "" "MAMLD1(NM_005491.4):c.2253C>T (p.P751=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150503486C>T" "" "likely benign" "" "0000659131" "0" "30" "X" "149680920" "149680920" "subst" "1.12118E-5" "01943" "MAMLD1_000074" "g.149680920G>A" "" "" "" "MAMLD1(NM_001177465.3):c.2574G>A (p.P858=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150512650G>A" "" "likely benign" "" "0000682173" "0" "50" "X" "149638116" "149638116" "subst" "5.60585E-6" "02327" "MAMLD1_000075" "g.149638116G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000682174" "0" "30" "X" "149638296" "149638296" "subst" "0.000111914" "01943" "MAMLD1_000076" "g.149638296A>G" "" "" "" "MAMLD1(NM_005491.4):c.451A>G (p.T151A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682175" "0" "30" "X" "149639654" "149639654" "subst" "0" "01943" "MAMLD1_000077" "g.149639654G>A" "" "" "" "MAMLD1(NM_005491.4):c.1809G>A (p.Q603=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682176" "0" "30" "X" "149671615" "149671615" "subst" "0.000140157" "01943" "MAMLD1_000078" "g.149671615G>A" "" "" "" "MAMLD1(NM_005491.4):c.2112G>A (p.P704=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693406" "0" "30" "X" "149639280" "149639280" "subst" "1.68474E-5" "01943" "MAMLD1_000079" "g.149639280C>T" "" "" "" "MAMLD1(NM_005491.4):c.1435C>T (p.L479=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693407" "0" "50" "X" "149680360" "149680360" "subst" "6.69128E-5" "01943" "MAMLD1_000080" "g.149680360C>T" "" "" "" "MAMLD1(NM_001177465.3):c.2014C>T (p.L672F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693408" "0" "50" "X" "149680919" "149680919" "subst" "5.60017E-5" "01943" "MAMLD1_000081" "g.149680919C>T" "" "" "" "MAMLD1(NM_001177465.3):c.2573C>T (p.P858L, p.(Pro858Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693409" "0" "30" "X" "149681090" "149681090" "subst" "0.00320847" "01943" "MAMLD1_000060" "g.149681090A>C" "" "" "" "MAMLD1(NM_001177465.1):c.2744A>C (p.(Asp915Ala)), MAMLD1(NM_001177465.3):c.2744A>C (p.D915A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728518" "0" "50" "X" "149638354" "149638354" "subst" "6.16095E-5" "01943" "MAMLD1_000046" "g.149638354C>T" "" "" "" "MAMLD1(NM_001177465.1):c.434C>T (p.(Pro145Leu)), MAMLD1(NM_005491.4):c.509C>T (p.P170L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728519" "0" "30" "X" "149638817" "149638817" "subst" "9.02807E-5" "01943" "MAMLD1_000082" "g.149638817C>T" "" "" "" "MAMLD1(NM_005491.4):c.972C>T (p.P324=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728520" "0" "50" "X" "149639212" "149639212" "subst" "0" "01943" "MAMLD1_000083" "g.149639212C>A" "" "" "" "MAMLD1(NM_005491.4):c.1367C>A (p.P456Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728521" "0" "50" "X" "149671580" "149671580" "subst" "0" "01943" "MAMLD1_000084" "g.149671580A>G" "" "" "" "MAMLD1(NM_005491.4):c.2077A>G (p.R693G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728522" "0" "50" "X" "149671601" "149671601" "subst" "4.48962E-5" "01943" "MAMLD1_000085" "g.149671601G>A" "" "" "" "MAMLD1(NM_005491.4):c.2098G>A (p.G700R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728523" "0" "30" "X" "149671780" "149671780" "subst" "4.22982E-5" "01943" "MAMLD1_000086" "g.149671780C>T" "" "" "" "MAMLD1(NM_005491.4):c.2277C>T (p.D759=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810004" "0" "30" "X" "149638209" "149638209" "subst" "1.67836E-5" "01943" "MAMLD1_000087" "g.149638209A>G" "" "" "" "MAMLD1(NM_005491.4):c.364A>G (p.M122V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810005" "0" "30" "X" "149639165" "149639165" "subst" "5.04323E-5" "01943" "MAMLD1_000088" "g.149639165A>G" "" "" "" "MAMLD1(NM_005491.4):c.1320A>G (p.Q440=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810006" "0" "30" "X" "149639573" "149639573" "subst" "0.000264288" "01943" "MAMLD1_000089" "g.149639573G>A" "" "" "" "MAMLD1(NM_005491.4):c.1728G>A (p.P576=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856402" "0" "30" "X" "149680417" "149680417" "subst" "8.72838E-5" "01943" "MAMLD1_000093" "g.149680417G>A" "" "" "" "MAMLD1(NM_001177465.3):c.2071G>A (p.E691K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867131" "0" "50" "X" "149638018" "149638018" "subst" "5.68553E-6" "01943" "MAMLD1_000090" "g.149638018G>A" "" "" "" "MAMLD1(NM_005491.4):c.173G>A (p.G58E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867132" "0" "30" "X" "149638219" "149638219" "subst" "0" "01943" "MAMLD1_000091" "g.149638219C>T" "" "" "" "MAMLD1(NM_005491.4):c.374C>T (p.A125V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867133" "0" "50" "X" "149638894" "149638894" "subst" "4.53533E-5" "01943" "MAMLD1_000092" "g.149638894C>T" "" "" "" "MAMLD1(NM_005491.4):c.1049C>T (p.P350L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895968" "0" "10" "X" "149638920" "149638920" "subst" "0.0837316" "02326" "MAMLD1_000094" "g.149638920C>T" "" "" "" "MAMLD1(NM_005491.4):c.1075C>T (p.P359S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000895969" "0" "30" "X" "149680355" "149680355" "subst" "0.00325355" "01943" "MAMLD1_000024" "g.149680355C>T" "" "" "" "MAMLD1(NM_001177465.1):c.2009C>T (p.(Thr670Ile)), MAMLD1(NM_001177465.3):c.2009C>T (p.T670I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927272" "0" "30" "X" "149680417" "149680417" "subst" "8.72838E-5" "02326" "MAMLD1_000093" "g.149680417G>A" "" "" "" "MAMLD1(NM_001177465.3):c.2071G>A (p.E691K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984506" "0" "50" "X" "149638516" "149638516" "subst" "0" "02325" "MAMLD1_000095" "g.149638516C>T" "" "" "" "MAMLD1(NM_005491.5):c.671C>T (p.S224L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984507" "0" "30" "X" "149638771" "149638771" "subst" "0.000247725" "01804" "MAMLD1_000048" "g.149638771C>T" "" "" "" "MAMLD1(NM_005491.4):c.926C>T (p.A309V, p.(Ala309Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984508" "0" "10" "X" "149671660" "149671660" "subst" "0.00129931" "01804" "MAMLD1_000096" "g.149671660C>G" "" "" "" "MAMLD1(NM_005491.4):c.2157C>G (p.(Ser719=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001006492" "0" "50" "X" "149638996" "149638996" "subst" "3.94288E-5" "02325" "MAMLD1_000097" "g.149638996C>T" "" "" "" "MAMLD1(NM_005491.5):c.1151C>T (p.P384L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006493" "0" "50" "X" "149639014" "149639014" "subst" "5.62924E-6" "01804" "MAMLD1_000098" "g.149639014G>T" "" "" "" "MAMLD1(NM_005491.3):c.1169G>T (p.(Ser390Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006494" "0" "50" "X" "149639358" "149639358" "subst" "5.61054E-6" "01804" "MAMLD1_000099" "g.149639358G>A" "" "" "" "MAMLD1(NM_005491.3):c.1513G>A (p.(Val505Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006495" "0" "30" "X" "149671778" "149671778" "subst" "0" "01804" "MAMLD1_000055" "g.149671778G>A" "" "" "" "MAMLD1(NM_005491.3):c.2275G>A (p.(Asp759Asn)), MAMLD1(NM_005491.4):c.2275G>A (p.D759N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001011568" "0" "50" "X" "148884728" "151975281" "dup" "0" "00006" "MAMLD1_000100" "g.(?_148884728)_(151975281_?)dup" "" "{PMID:Brusius-Facchin 2012:22492741}" "" "" "3.1Mb duplication incl. MAMLD1, MTM1 (not predicted to be associated with clinical symptoms)" "Germline/De novo (untested)" "" "" "0" "" "hg19 arrXq28(148,884,728–151,975,281)x2" "g.(?_149716278)_(152806808_?)dup" "" "VUS" "" "0001016327" "0" "90" "X" "140414526" "149682984" "del" "0" "00006" "IDS_000668" "g.(?_140414526)_(149682984_?)del" "" "{PMID:Jezela-Stanek 2021:33290290}" "" "" "9.27 Mb deletion incl. AFF2, FMR1, IDS, MAMLD1" "Germline/De novo (untested)" "" "" "0" "" "hg19 Xq27.2q28(140414526_149682984)×0" "g.(?_141326740)_(150595198_?)del" "" "pathogenic (recessive)" "" "0001044153" "0" "50" "X" "149680887" "149680887" "subst" "0" "01804" "MAMLD1_000101" "g.149680887C>A" "" "" "" "MAMLD1(NM_001177465.3):c.2541C>A (p.(Ser847Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044154" "0" "30" "X" "149680919" "149680919" "subst" "5.60017E-5" "01804" "MAMLD1_000081" "g.149680919C>T" "" "" "" "MAMLD1(NM_001177465.3):c.2573C>T (p.P858L, p.(Pro858Leu))" "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 MAMLD1 ## Count = 110 "{{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}}" "0000002196" "00000494" "50" "172" "-60" "172" "-59" "c.172-60_172-59del" "r.(=)" "p.(=)" "" "0000007852" "00000494" "50" "-290" "0" "-290" "0" "c.-290C>T" "" "p.(=)" "" "0000007853" "00000494" "50" "-166" "0" "-166" "0" "c.-166T>C" "" "p.(=)" "" "0000007854" "00000494" "50" "97" "-190" "97" "-190" "c.97-190T>C" "r.(=)" "p.(=)" "" "0000007855" "00000494" "50" "1918" "-150" "1918" "-150" "c.1918-150A>G" "r.(=)" "p.(=)" "" "0000010015" "00000494" "50" "-166" "0" "-166" "0" "c.-166T>C" "" "p.(=)" "" "0000010016" "00000494" "50" "97" "-190" "97" "-190" "c.97-190T>C" "r.(=)" "p.(=)" "" "0000010017" "00000494" "50" "1918" "-150" "1918" "-150" "c.1918-150A>G" "r.(=)" "p.(=)" "" "0000015826" "00000494" "50" "-420" "0" "-420" "0" "c.-420A>G" "" "p.(=)" "" "0000282362" "00000494" "10" "2650" "0" "2650" "0" "c.*325C>T" "r.(=)" "p.(=)" "" "0000291408" "00000494" "30" "111" "0" "111" "0" "c.111G>A" "r.(?)" "p.(Ser37=)" "" "0000291409" "00000494" "30" "1804" "0" "1804" "0" "c.1804C>A" "r.(?)" "p.(Gln602Lys)" "" "0000291410" "00000494" "30" "2403" "0" "2403" "0" "c.*78G>A" "r.(=)" "p.(=)" "" "0000291411" "00000494" "30" "2220" "0" "2220" "0" "c.2220C>A" "r.(?)" "p.(Gly740=)" "" "0000291412" "00000494" "30" "3214" "0" "3214" "0" "c.*889C>T" "r.(=)" "p.(=)" "" "0000291413" "00000494" "30" "3296" "0" "3296" "0" "c.*971T>G" "r.(=)" "p.(=)" "" "0000291414" "00000494" "50" "546" "0" "546" "0" "c.546G>C" "r.(?)" "p.(Glu182Asp)" "" "0000291415" "00000494" "10" "605" "0" "605" "0" "c.605C>T" "r.(?)" "p.(Thr202Met)" "" "0000335853" "00000494" "50" "966" "0" "966" "0" "c.966A>C" "r.(?)" "p.(Gln322His)" "" "0000335854" "00000494" "50" "1806" "0" "1814" "0" "c.1806_1814dup" "r.(?)" "p.(Gln604_Gln606dup)" "" "0000335856" "00000494" "30" "2284" "8" "2284" "8" "c.2284+8A>T" "r.(=)" "p.(=)" "" "0000335857" "00000494" "30" "2411" "0" "2411" "0" "c.*86G>T" "r.(=)" "p.(=)" "" "0000335858" "00000494" "30" "2451" "0" "2451" "0" "c.*126C>T" "r.(=)" "p.(=)" "" "0000335859" "00000494" "50" "2793" "0" "2793" "0" "c.*468C>T" "r.(=)" "p.(=)" "" "0000335860" "00000494" "30" "2928" "0" "2928" "0" "c.*603C>T" "r.(=)" "p.(=)" "" "0000335861" "00000494" "50" "2939" "0" "2939" "0" "c.*614C>A" "r.(=)" "p.(=)" "" "0000339147" "00000494" "70" "671" "0" "671" "0" "c.671C>A" "r.(?)" "p.(Ser224Ter)" "" "0000401165" "00000494" "50" "1547" "0" "1547" "0" "c.1547C>T" "r.(?)" "T516M" "6" "0000401166" "00000494" "50" "207" "0" "207" "0" "c.207C>T" "r.(?)" "G69G" "2" "0000401167" "00000494" "50" "856" "0" "856" "0" "c.856C>T" "r.(?)" "P286S" "6" "0000401168" "00000494" "50" "1480" "0" "1480" "0" "c.1480C>T" "r.(?)" "P494S" "6" "0000475016" "00000494" "90" "1141" "0" "1141" "0" "c.1141C>T" "r.(?)" "p.(Arg381*)" "" "0000475017" "00000494" "50" "2928" "0" "2928" "0" "c.*603C>T" "r.(?)" "p.(=)" "" "0000475018" "00000494" "90" "1141" "0" "1141" "0" "c.1141C>T" "r.(?)" "p.(Arg381*)" "" "0000475019" "00000494" "50" "1699" "0" "1699" "0" "c.1699C>T" "r.(?)" "p.(Pro567Ser)" "" "0000475020" "00000494" "90" "1141" "0" "1141" "0" "c.1141C>T" "r.(?)" "p.(Arg381*)" "" "0000475021" "00000494" "90" "1570" "0" "1570" "0" "c.1570C>T" "r.(?)" "p.(Gln524*)" "" "0000475022" "00000494" "50" "209" "0" "209" "0" "c.209A>G" "r.(?)" "p.(Gln70Arg)" "" "0000475023" "00000494" "50" "3417" "0" "3417" "0" "c.*1092C>T" "r.(?)" "p.(=)" "" "0000574096" "00000494" "50" "257" "0" "257" "0" "c.257C>T" "r.(?)" "p.(Pro86Leu)" "" "0000574097" "00000494" "30" "361" "0" "361" "0" "c.361G>A" "r.(?)" "p.(Ala121Thr)" "" "0000574098" "00000494" "30" "382" "0" "382" "0" "c.382T>A" "r.(?)" "p.(Ser128Thr)" "" "0000574099" "00000494" "30" "447" "0" "447" "0" "c.447G>T" "r.(?)" "p.(Gln149His)" "" "0000574100" "00000494" "30" "509" "0" "509" "0" "c.509C>T" "r.(?)" "p.(Pro170Leu)" "" "0000574101" "00000494" "30" "605" "0" "605" "0" "c.605C>T" "r.(?)" "p.(Thr202Met)" "" "0000574102" "00000494" "30" "912" "0" "912" "0" "c.912C>A" "r.(?)" "p.(Ala304=)" "" "0000574103" "00000494" "30" "926" "0" "926" "0" "c.926C>T" "r.(?)" "p.(Ala309Val)" "" "0000574104" "00000494" "30" "1041" "0" "1041" "0" "c.1041C>A" "r.(?)" "p.(His347Gln)" "" "0000574105" "00000494" "10" "1291" "0" "1291" "0" "c.1291C>T" "r.(?)" "p.(Leu431Phe)" "" "0000574106" "00000494" "30" "1336" "0" "1336" "0" "c.1336G>A" "r.(?)" "p.(Ala446Thr)" "" "0000574107" "00000494" "30" "1507" "0" "1507" "0" "c.1507G>T" "r.(?)" "p.(Ala503Ser)" "" "0000574108" "00000494" "30" "1699" "0" "1699" "0" "c.1699C>T" "r.(?)" "p.(Pro567Ser)" "" "0000574110" "00000494" "30" "2149" "0" "2149" "0" "c.2149G>A" "r.(?)" "p.(Gly717Ser)" "" "0000574111" "00000494" "30" "2275" "0" "2275" "0" "c.2275G>A" "r.(?)" "p.(Asp759Asn)" "" "0000574112" "00000494" "30" "2503" "0" "2503" "0" "c.*178C>A" "r.(=)" "p.(=)" "" "0000574113" "00000494" "30" "2897" "0" "2897" "0" "c.*572C>T" "r.(=)" "p.(=)" "" "0000574115" "00000494" "30" "3172" "0" "3172" "0" "c.*847G>A" "r.(=)" "p.(=)" "" "0000574116" "00000494" "30" "3186" "0" "3186" "0" "c.*861A>C" "r.(=)" "p.(=)" "" "0000574117" "00000494" "50" "3227" "0" "3227" "0" "c.*902C>A" "r.(=)" "p.(=)" "" "0000619114" "00000494" "30" "18" "0" "18" "0" "c.18T>C" "r.(?)" "p.(Ser6=)" "" "0000619115" "00000494" "30" "361" "0" "361" "0" "c.361G>A" "r.(?)" "p.(Ala121Thr)" "" "0000619116" "00000494" "50" "367" "0" "367" "0" "c.367G>A" "r.(?)" "p.(Gly123Arg)" "" "0000619117" "00000494" "30" "858" "0" "858" "0" "c.858G>T" "r.(?)" "p.(Gln286His)" "" "0000619118" "00000494" "30" "895" "0" "895" "0" "c.895C>G" "r.(?)" "p.(Pro299Ala)" "" "0000619119" "00000494" "30" "909" "0" "909" "0" "c.909C>T" "r.(?)" "p.(His303=)" "" "0000619120" "00000494" "30" "1038" "0" "1038" "0" "c.1038A>T" "r.(?)" "p.(Pro346=)" "" "0000619121" "00000494" "10" "1503" "0" "1505" "0" "c.1503_1505dup" "r.(?)" "p.(Gln502dup)" "" "0000619122" "00000494" "30" "2775" "0" "2775" "0" "c.*450A>G" "r.(=)" "p.(=)" "" "0000624462" "00000494" "30" "859" "0" "859" "0" "c.859G>A" "r.(?)" "p.(Ala287Thr)" "" "0000624463" "00000494" "30" "3183" "0" "3183" "0" "c.*858C>T" "r.(=)" "p.(=)" "" "0000659127" "00000494" "30" "209" "0" "209" "0" "c.209A>G" "r.(?)" "p.(Gln70Arg)" "" "0000659128" "00000494" "50" "209" "0" "209" "0" "c.209A>G" "r.(?)" "p.(Gln70Arg)" "" "0000659129" "00000494" "30" "1737" "0" "1737" "0" "c.1737G>A" "r.(?)" "p.(Thr579=)" "" "0000659130" "00000494" "30" "2253" "0" "2253" "0" "c.2253C>T" "r.(?)" "p.(Pro751=)" "" "0000659131" "00000494" "30" "3016" "0" "3016" "0" "c.*691G>A" "r.(=)" "p.(=)" "" "0000682173" "00000494" "50" "271" "0" "271" "0" "c.271G>A" "r.(?)" "p.(Val91Ile)" "" "0000682174" "00000494" "30" "451" "0" "451" "0" "c.451A>G" "r.(?)" "p.(Thr151Ala)" "" "0000682175" "00000494" "30" "1809" "0" "1809" "0" "c.1809G>A" "r.(?)" "p.(Gln603=)" "" "0000682176" "00000494" "30" "2112" "0" "2112" "0" "c.2112G>A" "r.(?)" "p.(Pro704=)" "" "0000693406" "00000494" "30" "1435" "0" "1435" "0" "c.1435C>T" "r.(?)" "p.(Leu479=)" "" "0000693407" "00000494" "50" "2456" "0" "2456" "0" "c.*131C>T" "r.(=)" "p.(=)" "" "0000693408" "00000494" "50" "3015" "0" "3015" "0" "c.*690C>T" "r.(=)" "p.(=)" "" "0000693409" "00000494" "30" "3186" "0" "3186" "0" "c.*861A>C" "r.(=)" "p.(=)" "" "0000728518" "00000494" "50" "509" "0" "509" "0" "c.509C>T" "r.(?)" "p.(Pro170Leu)" "" "0000728519" "00000494" "30" "972" "0" "972" "0" "c.972C>T" "r.(?)" "p.(Pro324=)" "" "0000728520" "00000494" "50" "1367" "0" "1367" "0" "c.1367C>A" "r.(?)" "p.(Pro456Gln)" "" "0000728521" "00000494" "50" "2077" "0" "2077" "0" "c.2077A>G" "r.(?)" "p.(Arg693Gly)" "" "0000728522" "00000494" "50" "2098" "0" "2098" "0" "c.2098G>A" "r.(?)" "p.(Gly700Arg)" "" "0000728523" "00000494" "30" "2277" "0" "2277" "0" "c.2277C>T" "r.(?)" "p.(Asp759=)" "" "0000810004" "00000494" "30" "364" "0" "364" "0" "c.364A>G" "r.(?)" "p.(Met122Val)" "" "0000810005" "00000494" "30" "1320" "0" "1320" "0" "c.1320A>G" "r.(?)" "p.(Gln440=)" "" "0000810006" "00000494" "30" "1728" "0" "1728" "0" "c.1728G>A" "r.(?)" "p.(Pro576=)" "" "0000856402" "00000494" "30" "2513" "0" "2513" "0" "c.*188G>A" "r.(=)" "p.(=)" "" "0000867131" "00000494" "50" "173" "0" "173" "0" "c.173G>A" "r.(?)" "p.(Gly58Glu)" "" "0000867132" "00000494" "30" "374" "0" "374" "0" "c.374C>T" "r.(?)" "p.(Ala125Val)" "" "0000867133" "00000494" "50" "1049" "0" "1049" "0" "c.1049C>T" "r.(?)" "p.(Pro350Leu)" "" "0000895968" "00000494" "10" "1075" "0" "1075" "0" "c.1075C>T" "r.(?)" "p.(Pro359Ser)" "" "0000895969" "00000494" "30" "2451" "0" "2451" "0" "c.*126C>T" "r.(=)" "p.(=)" "" "0000927272" "00000494" "30" "2513" "0" "2513" "0" "c.*188G>A" "r.(=)" "p.(=)" "" "0000984506" "00000494" "50" "671" "0" "671" "0" "c.671C>T" "r.(?)" "p.(Ser224Leu)" "" "0000984507" "00000494" "30" "926" "0" "926" "0" "c.926C>T" "r.(?)" "p.(Ala309Val)" "" "0000984508" "00000494" "10" "2157" "0" "2157" "0" "c.2157C>G" "r.(?)" "p.(=)" "" "0001006492" "00000494" "50" "1151" "0" "1151" "0" "c.1151C>T" "r.(?)" "p.(Pro384Leu)" "" "0001006493" "00000494" "50" "1169" "0" "1169" "0" "c.1169G>T" "r.(?)" "p.(Ser390Ile)" "" "0001006494" "00000494" "50" "1513" "0" "1513" "0" "c.1513G>A" "r.(?)" "p.(Val505Met)" "" "0001006495" "00000494" "30" "2275" "0" "2275" "0" "c.2275G>A" "r.(?)" "p.(Asp759Asn)" "" "0001011568" "00000494" "50" "-729239" "0" "2297174" "0" "c.-729239_*2294849dup" "r.?" "p.?" "" "0001016327" "00000494" "90" "-8388608" "0" "5080" "0" "c.(?_-9199257)_(*2755_?)del" "r.0" "p.0" "" "0001044153" "00000494" "50" "2983" "0" "2983" "0" "c.*658C>A" "r.(=)" "p.(=)" "" "0001044154" "00000494" "30" "3015" "0" "3015" "0" "c.*690C>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 23 "{{screeningid}}" "{{variantid}}" "0000000209" "0000002196" "0000000209" "0000007852" "0000000209" "0000007853" "0000000209" "0000007854" "0000000209" "0000007855" "0000000210" "0000010015" "0000000210" "0000010016" "0000000210" "0000010017" "0000000210" "0000015826" "0000174086" "0000401165" "0000174305" "0000401166" "0000174400" "0000401167" "0000174401" "0000401168" "0000232538" "0000475016" "0000232550" "0000475017" "0000232564" "0000475018" "0000232577" "0000475019" "0000232596" "0000475020" "0000232606" "0000475021" "0000232607" "0000475022" "0000232631" "0000475023" "0000457120" "0001011568" "0000458763" "0001016327"