### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MED12L) # 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}}" "MED12L" "mediator complex subunit 12-like" "3" "q25.1" "unknown" "NC_000003.11" "UD_132084433668" "" "https://www.LOVD.nl/MED12L" "" "1" "16050" "116931" "611318" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-09-26 13:27:28" "00006" "2025-09-26 13:26:57" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00011960" "MED12L" "mediator complex subunit 12-like" "001" "NM_053002.4" "" "NP_443728.3" "" "" "" "-38" "10311" "6438" "150804676" "151154465" "" "0000-00-00 00:00:00" "" "" "00026013" "MED12L" "transcript variant 1 (removed from reference sequence)" "000" "NM_001393769.1" "" "NP_001380698.1" "" "" "MANE select" "-402" "10392" "6543" "1" "1" "00006" "2025-09-26 13:26:57" "" "" ## 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}}" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06604" "NIZIDS" "Nizon-Isidor syndrome" "AD" "618872" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "MED12L" "06604" ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00465313" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" "00466867" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "347199" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00465313" "05611" "00466867" "06604" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05611, 06604 ## Count = 2 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000350866" "05611" "00465313" "03544" "Isolated (sporadic)" "" "HP:0000729, HP:0000717" "" "" "" "" "" "" "NIZIDS" "complex neurodevelopmental disorder" "0000352231" "06604" "00466867" "01164" "Isolated (sporadic)" "06y" "Poor fine motor coordination, Small for gestational age, Poor suck, Hypotonia, Fatigable weakness, Impulsivity, Hyperreflexia" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000466961" "00465313" "1" "03544" "03544" "2025-05-10 18:22:52" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000468532" "00466867" "1" "01164" "01164" "2025-09-26 11:39:31" "" "" "SEQ-NG-I" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000468532" "MED12L" ## 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 = 62 "{{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}}" "0000249024" "0" "10" "3" "151056598" "151056598" "subst" "0.868098" "02325" "MED12L_000005" "g.151056598A>C" "" "" "" "MED12L(NM_053002.6):c.2146-11249A>C, P2RY12(NM_022788.5):c.36T>G (p.G12=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151338810A>C" "" "benign" "" "0000255023" "0" "30" "3" "150908634" "150908634" "subst" "0.00161298" "01943" "MED12L_000003" "g.150908634A>G" "" "" "" "MED12L(NM_053002.5):c.1884A>G (p.S628=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151190847A>G" "" "likely benign" "" "0000289530" "0" "30" "3" "151163318" "151163318" "subst" "4.06468E-6" "01943" "IGSF10_000007" "g.151163318C>G" "" "" "" "IGSF10(NM_178822.4):c.4451G>C (p.R1484T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151445530C>G" "" "likely benign" "" "0000289531" "0" "30" "3" "151163307" "151163307" "subst" "2.03219E-5" "01943" "IGSF10_000006" "g.151163307C>T" "" "" "" "IGSF10(NM_178822.4):c.4462G>A (p.D1488N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151445519C>T" "" "likely benign" "" "0000289532" "0" "50" "3" "151171421" "151171421" "subst" "0.000121829" "01943" "IGSF10_000009" "g.151171421G>A" "" "" "" "IGSF10(NM_178822.4):c.466C>T (p.R156C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151453633G>A" "" "VUS" "" "0000289533" "0" "50" "3" "151155329" "151155329" "subst" "0" "01943" "IGSF10_000001" "g.151155329T>G" "" "" "" "IGSF10(NM_178822.4):c.7020A>C (p.R2340S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151437541T>G" "" "VUS" "" "0000300536" "0" "90" "3" "151055862" "151055862" "subst" "0" "02326" "MED12L_000004" "g.151055862G>T" "" "" "" "P2RY12(NM_022788.4):c.772C>A (p.P258T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151338074G>T" "" "pathogenic" "" "0000329668" "0" "50" "3" "150840682" "150840682" "subst" "0" "01804" "MED12L_000001" "g.150840682C>T" "" "" "" "MED12L(NM_053002.4):c.317C>T (p.(Thr106Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151122895C>T" "" "VUS" "" "0000329670" "0" "30" "3" "151107838" "151107838" "subst" "2.84419E-5" "01804" "MED12L_000006" "g.151107838T>A" "" "" "" "MED12L(NM_053002.5):c.5418T>A (p.(His1806Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151390050T>A" "" "likely benign" "" "0000329674" "0" "50" "3" "151161266" "151161266" "subst" "2.03089E-5" "01804" "IGSF10_000004" "g.151161266G>T" "" "" "" "IGSF10(NM_001178145.1):c.-2860C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151443478G>T" "" "VUS" "" "0000329675" "0" "50" "3" "151161267" "151161267" "subst" "0" "01804" "IGSF10_000005" "g.151161267C>T" "" "" "" "IGSF10(NM_001178145.1):c.-2861G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151443479C>T" "" "VUS" "" "0000329676" "0" "50" "3" "151164045" "151164045" "subst" "0" "01804" "IGSF10_000008" "g.151164045A>T" "" "" "" "IGSF10(NM_178822.4):c.3724T>A (p.(Leu1242Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151446257A>T" "" "VUS" "" "0000348325" "0" "90" "3" "151055862" "151055862" "subst" "0" "02327" "MED12L_000004" "g.151055862G>T" "" "" "" "P2RY12(NM_022788.4):c.772C>A (p.P258T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151338074G>T" "" "pathogenic" "" "0000349918" "0" "30" "3" "150845649" "150845649" "subst" "8.13557E-6" "02327" "MED12L_000008" "g.150845649A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151127862A>G" "" "likely benign" "" "0000518313" "0" "30" "3" "150874057" "150874057" "subst" "0.000290187" "01943" "GPR87_000001" "g.150874057G>T" "" "" "" "MED12L(NM_053002.5):c.666G>T (p.E222D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.151156270G>T" "" "likely benign" "" "0000518315" "0" "50" "3" "151154500" "151154500" "del" "0" "02327" "GPR87_000003" "g.151154500del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.151436712del" "" "VUS" "" "0000518316" "0" "50" "3" "151162758" "151162758" "subst" "4.06669E-6" "02327" "IGSF10_000010" "g.151162758C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.151444970C>T" "" "VUS" "" "0000518317" "0" "50" "3" "151162794" "151162794" "subst" "0" "02327" "IGSF10_000011" "g.151162794T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.151445006T>G" "" "VUS" "" "0000518318" "0" "50" "3" "151176333" "151176333" "subst" "8.13895E-6" "02327" "IGSF10_000012" "g.151176333G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.151458545G>C" "" "VUS" "" "0000621201" "0" "50" "3" "151094821" "151094821" "subst" "0" "02329" "GPR87_000004" "g.151094821A>G" "" "" "" "MED12L(NM_053002.6):c.4066A>G (p.I1356V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.151377033A>G" "" "VUS" "" "0000654828" "0" "30" "3" "151160938" "151160941" "dup" "0" "02327" "IGSF10_000014" "g.151160938_151160941dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.151443150_151443153dup" "" "likely benign" "" "0000719254" "0" "30" "3" "151085514" "151085514" "subst" "0.00293551" "02327" "GPR87_000005" "g.151085514C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858842" "0" "30" "3" "151056174" "151056174" "subst" "0.00229537" "02326" "GPR87_000006" "g.151056174A>G" "" "" "" "P2RY12(NM_022788.4):c.460T>C (p.L154=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885603" "0" "50" "3" "151067936" "151067936" "subst" "0" "02329" "GPR87_000007" "g.151067936G>T" "" "" "" "MED12L(NM_053002.6):c.2235G>T (p.K745N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885604" "0" "50" "3" "151078278" "151078278" "subst" "0" "02325" "GPR87_000008" "g.151078278A>G" "" "" "" "MED12L(NM_053002.6):c.2737A>G (p.K913E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885605" "0" "50" "3" "151093859" "151093859" "subst" "0" "02327" "GPR87_000009" "g.151093859A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885606" "0" "50" "3" "151171550" "151171550" "subst" "0" "02329" "IGSF10_000015" "g.151171550T>C" "" "" "" "IGSF10(NM_178822.5):c.337A>G (p.S113G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923856" "0" "30" "3" "151055966" "151055966" "subst" "5.28279E-5" "02326" "GPR87_000010" "g.151055966G>A" "" "" "" "P2RY12(NM_022788.4):c.668C>T (p.T223M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923857" "0" "30" "3" "151056622" "151056622" "subst" "0.00105768" "02326" "GPR87_000011" "g.151056622G>A" "" "" "" "P2RY12(NM_022788.4):c.12C>T (p.V4=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948054" "0" "30" "3" "151073681" "151073681" "subst" "0.00100468" "02325" "GPR87_000012" "g.151073681C>A" "" "" "" "MED12L(NM_053002.6):c.2413-3C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948055" "0" "50" "3" "151154490" "151154490" "subst" "8.44709E-6" "02327" "GPR87_000013" "g.151154490A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948056" "0" "90" "3" "151163123" "151163175" "del" "0" "02327" "IGSF10_000016" "g.151163123_151163175del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000962523" "0" "50" "3" "151154722" "151154722" "subst" "0" "02327" "GPR87_000014" "g.151154722C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975631" "0" "30" "3" "150947506" "150947506" "subst" "0" "01804" "GPR87_000015" "g.150947506G>A" "" "" "" "MED12L(NM_053002.5):c.2145+36053G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975632" "0" "50" "3" "151129094" "151129094" "subst" "0" "02325" "GPR87_000016" "g.151129094G>T" "" "" "" "MED12L(NM_053002.6):c.5834G>T (p.G1945V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993366" "0" "30" "3" "150834162" "150834162" "subst" "1.22012E-5" "01804" "GPR87_000017" "g.150834162A>G" "" "" "" "MED12L(NM_053002.4):c.137A>G (p.(Asn46Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993367" "0" "50" "3" "150845679" "150845679" "subst" "1.21908E-5" "01804" "GPR87_000018" "g.150845679G>A" "" "" "" "MED12L(NM_053002.4):c.464G>A (p.(Arg155Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993368" "0" "30" "3" "150876519" "150876519" "subst" "0" "01804" "GPR87_000019" "g.150876519A>C" "" "" "" "MED12L(NM_053002.4):c.770A>C (p.(Asp257Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993369" "0" "50" "3" "150877809" "150877809" "subst" "0" "01804" "GPR87_000020" "g.150877809C>T" "" "" "" "MED12L(NM_053002.4):c.1028C>T (p.(Pro343Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993370" "0" "30" "3" "150883729" "150883729" "subst" "2.44304E-5" "01804" "GPR87_000021" "g.150883729A>G" "" "" "" "MED12L(NM_053002.4):c.1454A>G (p.(His485Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993371" "0" "50" "3" "150911350" "150911350" "subst" "3.65589E-5" "01804" "GPR87_000022" "g.150911350G>T" "" "" "" "MED12L(NM_053002.4):c.2042G>T (p.(Cys681Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993372" "0" "30" "3" "151073736" "151073736" "subst" "8.1246E-6" "01804" "GPR87_000023" "g.151073736A>G" "" "" "" "MED12L(NM_053002.4):c.2465A>G (p.(Tyr822Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993373" "0" "50" "3" "151082777" "151082777" "subst" "0" "01804" "GPR87_000024" "g.151082777T>C" "" "" "" "MED12L(NM_053002.4):c.2863T>C (p.(Ser955Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993374" "0" "50" "3" "151083727" "151083727" "subst" "0" "01804" "GPR87_000025" "g.151083727G>T" "" "" "" "MED12L(NM_053002.4):c.3170G>T (p.(Cys1057Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993375" "0" "30" "3" "151083744" "151083744" "subst" "4.07402E-6" "01804" "GPR87_000026" "g.151083744G>T" "" "" "" "MED12L(NM_053002.4):c.3187G>T (p.(Val1063Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993376" "0" "50" "3" "151090478" "151090478" "subst" "2.0334E-5" "01804" "GPR87_000027" "g.151090478G>A" "" "" "" "MED12L(NM_053002.4):c.3683G>A (p.(Cys1228Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993377" "0" "30" "3" "151093968" "151093968" "subst" "8.50304E-6" "01804" "GPR87_000028" "g.151093968A>G" "" "" "" "MED12L(NM_053002.4):c.3914A>G (p.(Asn1305Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993378" "0" "50" "3" "151094936" "151094936" "subst" "4.08961E-6" "01804" "GPR87_000029" "g.151094936C>T" "" "" "" "MED12L(NM_053002.4):c.4181C>T (p.(Thr1394Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993379" "0" "50" "3" "151105597" "151105597" "subst" "0" "01804" "GPR87_000030" "g.151105597G>A" "" "" "" "MED12L(NM_053002.4):c.4984-1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993380" "0" "30" "3" "151134129" "151134129" "subst" "0" "01804" "GPR87_000031" "g.151134129G>C" "" "" "" "MED12L(NM_053002.4):c.6222G>C (p.(Gln2074His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993381" "0" "30" "3" "151154667" "151154667" "subst" "4.06415E-6" "01804" "GPR87_000032" "g.151154667G>A" "" "" "" "IGSF10(NM_178822.4):c.7682C>T (p.(Thr2561Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993382" "0" "50" "3" "151155600" "151155600" "subst" "4.06712E-6" "02327" "GPR87_000033" "g.151155600G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993383" "0" "90" "3" "151161572" "151161572" "subst" "5.28279E-5" "02327" "IGSF10_000017" "g.151161572G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000993384" "0" "90" "3" "151165532" "151165532" "subst" "0.00642624" "01804" "IGSF10_000018" "g.151165532G>C" "" "" "" "IGSF10(NM_178822.4):c.2237C>G (p.(Pro746Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000993385" "0" "50" "3" "151166494" "151166494" "subst" "0" "01804" "IGSF10_000019" "g.151166494A>T" "" "" "" "IGSF10(NM_178822.4):c.1275T>A (p.(Asp425Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024735" "0" "30" "3" "150910331" "150910331" "subst" "0" "02325" "GPR87_000034" "g.150910331T>G" "" "" "" "MED12L(NM_053002.6):c.1969-946T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033755" "0" "30" "3" "151105694" "151105694" "subst" "6.09642E-5" "01804" "GPR87_000035" "g.151105694G>A" "" "" "" "MED12L(NM_053002.5):c.5080G>A (p.(Val1694Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033756" "0" "50" "3" "151155132" "151155132" "subst" "0.000585547" "01804" "GPR87_000036" "g.151155132G>A" "" "" "" "IGSF10(NM_178822.5):c.7217C>T (p.(Ala2406Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033757" "0" "50" "3" "151158361" "151158361" "subst" "0" "02325" "GPR87_000037" "g.151158361G>T" "" "" "" "IGSF10(NM_178822.5):c.5964-1976C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033758" "0" "50" "3" "151165106" "151165106" "subst" "0.00155662" "01804" "IGSF10_000020" "g.151165106T>G" "" "" "" "IGSF10(NM_178822.5):c.2663A>C (p.(Gln888Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044609" "0" "70" "3" "151112617" "151112617" "subst" "0" "03544" "MED12L_000009" "g.151112617C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.151394829C>T" "" "likely pathogenic" "ACMG" "0001048404" "0" "70" "3" "151094867" "151094870" "del" "0" "01164" "MED12L_000010" "g.151094867_151094870del" "" "" "" "4109_4112del" "ACMG: PVS1, PM2_supporting" "Germline/De novo (untested)" "?" "" "0" "" "" "g.151377079_151377082del" "" "likely pathogenic (dominant)" "ACMG" ## 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 MED12L ## Count = 62 "{{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}}" "0000249024" "00011960" "10" "2146" "-11249" "2146" "-11249" "c.2146-11249A>C" "r.(=)" "p.(=)" "" "0000255023" "00011960" "30" "1884" "0" "1884" "0" "c.1884A>G" "r.(?)" "p.(Ser628=)" "" "0000289530" "00011960" "30" "19164" "0" "19164" "0" "c.*12726C>G" "r.(=)" "p.(=)" "" "0000289531" "00011960" "30" "19153" "0" "19153" "0" "c.*12715C>T" "r.(=)" "p.(=)" "" "0000289532" "00011960" "50" "27267" "0" "27267" "0" "c.*20829G>A" "r.(=)" "p.(=)" "" "0000289533" "00011960" "50" "11175" "0" "11175" "0" "c.*4737T>G" "r.(=)" "p.(=)" "" "0000300536" "00011960" "90" "2146" "-11985" "2146" "-11985" "c.2146-11985G>T" "r.(=)" "p.(=)" "" "0000329668" "00011960" "50" "317" "0" "317" "0" "c.317C>T" "r.(?)" "p.(Thr106Ile)" "" "0000329670" "00011960" "30" "5418" "0" "5418" "0" "c.5418T>A" "r.(?)" "p.(His1806Gln)" "" "0000329674" "00011960" "50" "17112" "0" "17112" "0" "c.*10674G>T" "r.(=)" "p.(=)" "" "0000329675" "00011960" "50" "17113" "0" "17113" "0" "c.*10675C>T" "r.(=)" "p.(=)" "" "0000329676" "00011960" "50" "19891" "0" "19891" "0" "c.*13453A>T" "r.(=)" "p.(=)" "" "0000348325" "00011960" "90" "2146" "-11985" "2146" "-11985" "c.2146-11985G>T" "r.(=)" "p.(=)" "" "0000349918" "00011960" "30" "434" "0" "434" "0" "c.434A>G" "r.(?)" "p.(Tyr145Cys)" "" "0000518313" "00011960" "30" "666" "0" "666" "0" "c.666G>T" "r.(?)" "p.(Glu222Asp)" "" "0000518315" "00011960" "50" "10346" "0" "10346" "0" "c.*3908del" "r.(?)" "p.(=)" "" "0000518316" "00011960" "50" "18604" "0" "18604" "0" "c.*12166C>T" "r.(=)" "p.(=)" "" "0000518317" "00011960" "50" "18640" "0" "18640" "0" "c.*12202T>G" "r.(=)" "p.(=)" "" "0000518318" "00011960" "50" "32179" "0" "32179" "0" "c.*25741G>C" "r.(=)" "p.(=)" "" "0000621201" "00011960" "50" "4066" "0" "4066" "0" "c.4066A>G" "r.(?)" "p.(Ile1356Val)" "" "0000654828" "00011960" "30" "16784" "0" "16787" "0" "c.*10346_*10349dup" "r.(=)" "p.(=)" "" "0000719254" "00011960" "30" "3303" "0" "3303" "0" "c.3303C>T" "r.(?)" "p.(Asp1101=)" "" "0000858842" "00011960" "30" "2146" "-11673" "2146" "-11673" "c.2146-11673A>G" "r.(=)" "p.(=)" "" "0000885603" "00011960" "50" "2235" "0" "2235" "0" "c.2235G>T" "r.(?)" "p.(Lys745Asn)" "" "0000885604" "00011960" "50" "2737" "0" "2737" "0" "c.2737A>G" "r.(?)" "p.(Lys913Glu)" "" "0000885605" "00011960" "50" "3805" "0" "3805" "0" "c.3805A>G" "r.(?)" "p.(Thr1269Ala)" "" "0000885606" "00011960" "50" "27396" "0" "27396" "0" "c.*20958T>C" "r.(=)" "p.(=)" "" "0000923856" "00011960" "30" "2146" "-11881" "2146" "-11881" "c.2146-11881G>A" "r.(=)" "p.(=)" "" "0000923857" "00011960" "30" "2146" "-11225" "2146" "-11225" "c.2146-11225G>A" "r.(=)" "p.(=)" "" "0000948054" "00011960" "30" "2413" "-3" "2413" "-3" "c.2413-3C>A" "r.spl?" "p.?" "" "0000948055" "00011960" "50" "10336" "0" "10336" "0" "c.*3898A>C" "r.(=)" "p.(=)" "" "0000948056" "00011960" "90" "18969" "0" "19021" "0" "c.*12531_*12583del" "r.(=)" "p.(=)" "" "0000962523" "00011960" "50" "10568" "0" "10568" "0" "c.*4130C>G" "r.(=)" "p.(=)" "" "0000975631" "00011960" "30" "2145" "36053" "2145" "36053" "c.2145+36053G>A" "r.(=)" "p.(=)" "" "0000975632" "00011960" "50" "5834" "0" "5834" "0" "c.5834G>T" "r.(?)" "p.(Gly1945Val)" "" "0000993366" "00011960" "30" "137" "0" "137" "0" "c.137A>G" "r.(?)" "p.(Asn46Ser)" "" "0000993367" "00011960" "50" "464" "0" "464" "0" "c.464G>A" "r.(?)" "p.(Arg155Gln)" "" "0000993368" "00011960" "30" "770" "0" "770" "0" "c.770A>C" "r.(?)" "p.(Asp257Ala)" "" "0000993369" "00011960" "50" "1028" "0" "1028" "0" "c.1028C>T" "r.(?)" "p.(Pro343Leu)" "" "0000993370" "00011960" "30" "1454" "0" "1454" "0" "c.1454A>G" "r.(?)" "p.(His485Arg)" "" "0000993371" "00011960" "50" "2042" "0" "2042" "0" "c.2042G>T" "r.(?)" "p.(Cys681Phe)" "" "0000993372" "00011960" "30" "2465" "0" "2465" "0" "c.2465A>G" "r.(?)" "p.(Tyr822Cys)" "" "0000993373" "00011960" "50" "2863" "0" "2863" "0" "c.2863T>C" "r.(?)" "p.(Ser955Pro)" "" "0000993374" "00011960" "50" "3170" "0" "3170" "0" "c.3170G>T" "r.(?)" "p.(Cys1057Phe)" "" "0000993375" "00011960" "30" "3187" "0" "3187" "0" "c.3187G>T" "r.(?)" "p.(Val1063Leu)" "" "0000993376" "00011960" "50" "3683" "0" "3683" "0" "c.3683G>A" "r.(?)" "p.(Cys1228Tyr)" "" "0000993377" "00011960" "30" "3914" "0" "3914" "0" "c.3914A>G" "r.(?)" "p.(Asn1305Ser)" "" "0000993378" "00011960" "50" "4181" "0" "4181" "0" "c.4181C>T" "r.(?)" "p.(Thr1394Met)" "" "0000993379" "00011960" "50" "4984" "-1" "4984" "-1" "c.4984-1G>A" "r.spl?" "p.?" "" "0000993380" "00011960" "30" "6222" "0" "6222" "0" "c.6222G>C" "r.(?)" "p.(Gln2074His)" "" "0000993381" "00011960" "30" "10513" "0" "10513" "0" "c.*4075G>A" "r.(=)" "p.(=)" "" "0000993382" "00011960" "50" "11446" "0" "11446" "0" "c.*5008G>C" "r.(=)" "p.(=)" "" "0000993383" "00011960" "90" "17418" "0" "17418" "0" "c.*10980G>C" "r.(=)" "p.(=)" "" "0000993384" "00011960" "90" "21378" "0" "21378" "0" "c.*14940G>C" "r.(=)" "p.(=)" "" "0000993385" "00011960" "50" "22340" "0" "22340" "0" "c.*15902A>T" "r.(=)" "p.(=)" "" "0001024735" "00011960" "30" "1969" "-946" "1969" "-946" "c.1969-946T>G" "r.(=)" "p.(=)" "" "0001033755" "00011960" "30" "5080" "0" "5080" "0" "c.5080G>A" "r.(?)" "p.(Val1694Ile)" "" "0001033756" "00011960" "50" "10978" "0" "10978" "0" "c.*4540G>A" "r.(=)" "p.(=)" "" "0001033757" "00011960" "50" "14207" "0" "14207" "0" "c.*7769G>T" "r.(=)" "p.(=)" "" "0001033758" "00011960" "50" "20952" "0" "20952" "0" "c.*14514T>G" "r.(=)" "p.(=)" "" "0001044609" "00011960" "70" "5677" "0" "5677" "0" "c.5677C>T" "r.(5677C>T)" "p.(Arg1893*)" "38" "0001048404" "00011960" "70" "4112" "0" "4115" "0" "c.4112_4115del" "r.(4112_4115del)" "p.(Asn1371Ilefs*7)" "29" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000466961" "0001044609" "0000468532" "0001048404"