### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MAPK1) # 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}}" "MAPK1" "mitogen-activated protein kinase 1" "22" "q11.2" "unknown" "LRG_786" "UD_132085361498" "" "https://www.LOVD.nl/MAPK1" "" "1" "6871" "5594" "176948" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/MAPK1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-07-30 09:01:36" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00011777" "MAPK1" "transcript variant 1" "001" "NM_002745.4" "" "NP_002736.3" "" "" "" "-240" "5676" "1083" "22221970" "22113946" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{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" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "MAPK1" "05611" ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{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}}" "00307076" "" "" "" "1" "" "00006" "{PMID:Motta 2020:32721402}, {DOI:Motta 2020:10.1016/j.ajhg.2020.06.018}" "" "M" "no" "Italy" "" "0" "" "" "white" "Pat1" "00307077" "" "" "" "1" "" "00006" "{PMID:Motta 2020:32721402}, {DOI:Motta 2020:10.1016/j.ajhg.2020.06.018}" "" "M" "no" "" "" "0" "" "" "white" "Pat2" "00307078" "" "" "" "1" "" "00006" "{PMID:Motta 2020:32721402}, {DOI:Motta 2020:10.1016/j.ajhg.2020.06.018}" "" "M" "" "" "" "0" "" "" "white" "Pat3" "00307079" "" "" "" "1" "" "00006" "{PMID:Motta 2020:32721402}, {DOI:Motta 2020:10.1016/j.ajhg.2020.06.018}" "" "F" "no" "Netherlands" "" "0" "" "" "white" "Pat4" "00307080" "" "" "" "1" "" "00006" "{PMID:Motta 2020:32721402}, {DOI:Motta 2020:10.1016/j.ajhg.2020.06.018}" "" "M" "" "" "" "0" "" "" "white" "Pat5" "00307081" "" "" "" "1" "" "00006" "{PMID:Motta 2020:32721402}, {DOI:Motta 2020:10.1016/j.ajhg.2020.06.018}" "" "M" "" "" "" "0" "" "" "white" "Pat6" "00307082" "" "" "" "1" "" "00006" "{PMID:Motta 2020:32721402}, {DOI:Motta 2020:10.1016/j.ajhg.2020.06.018}" "" "M" "no" "Spain" "" "0" "" "" "white" "Pat7" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00307076" "05611" "00307077" "05611" "00307078" "05611" "00307079" "05611" "00307080" "05611" "00307081" "05611" "00307082" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05611 ## Count = 7 "{{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}}" "0000232894" "05611" "00307076" "00006" "Familial, autosomal recessive" "13y2m" "birth height 53 cm (+1.65 SD), weight 3,650 g (+0.6 SD); height 157 cm (-0.04 SD), weight 45.5 kg (-0.01 SD), OFC 59 cm (+2.82 SD); developmental delay; no intellectual disability; no speech dealy; anxiety, reduced stress tolerance; learning disorder; no hypotonia; no epilepsy; mitral regurgitation, mitral valve prolapse, patent foramen ovale; pes planus, scapular winging, cubitus valgus; epicanthal folds, blue eyes, hypertelorism, low- set posteriorly rotated ears, webbed/short neck; curly and thick hair, multiple lentigines; no cryptorchidism; no GER; no recurrent infections; no lymphatic involvement; no bleeding, no easy bruising; no hearing problems" "" "" "" "" "" "" "" "neurodegeneration" "0000232895" "05611" "00307077" "00006" "Familial, autosomal recessive" "12y" "birth height 47 cm (-2.28 SD), weight 3,350 g (-0.6 SD), OFC 33 cm (-1.32 SD); height 144.6 cm (-0.82 SD), weight 30 kg (-1.99 SD), OFC 52 cm (-1.01 SD); developmental delay; intellectual disability; speech dealy; attention deficit hyperactivity disorder; learning disorder; hypotonia; no epilepsy; atrial septal defect, mild mitral valve prolapse; pes planus, mild legs asymmetry (5 mm); prominent metopic ridge, bitemporal narrowing, hypertelorism, downslanting palpebral fissures, ptosis, low-set posteriorly rotated ears, wide nasal bridge, prominent and pointed chin, low posterior hairline; 1 cafè au lait spot, 3 hypochromic spots; cryptorchidism; no GER; no recurrent infections; periphery lymphedema; no bleeding, no easy bruising; no hearing problems; cavum setto pellucido; normal abdominal ultrasound" "" "" "" "" "" "" "" "neurodegeneration" "0000232896" "05611" "00307078" "00006" "Familial, autosomal recessive" "6y" "birth height 50 cm (0 SD), weight 3,672 g (+0.5 SD), OFC 34.5 cm (+0.66 SD); height 105 cm (-2.23 SD), weight 17.4 kg (-1.26 SD), OFC 48.5 cm (-2.39 SD); developmental delay; intellectual disability; speech dealy; aggressive, destructive, spitting, head banging; learning disorder; hypotonia; no epilepsy; no cardiac defect; broad thorax, pes planus; high forehead, medial thin and flaring of eyebrows, ptosis, slightly wide nasal bridge when younger, round nasal tip (upturned), posteriorly rotated ears, small teeth, fusion of two teeth, webbed/short neck; dry skin, mild eczema; no cryptorchidism; wet lung syndrome; recurrent infections ears; no lymphatic involvement; bleeding, easy bruising; no hearing problems; 1m-mild widening frontal peripheral liquor spaces; normal abdominal ultrasound" "" "" "" "" "" "" "" "neurodegeneration" "0000232897" "05611" "00307079" "00006" "Familial, autosomal recessive" "16y" "birth weight 2,610 g (-0.6 SD); 16y-height 163 cm (-1.27 SD), 16y-weight 53.5 kg (-0.9 SD), 9y5m-OFC 54 cm (+0.47 SD); developmental delay; intellectual disability; speech dealy; attention deficit hyperactivity disorder; learning disorder; no hypotonia; no epilepsy; mitral valve billowing; broad thorax; broad forehead, full eyebrows, hypertelorism, ptosis, short and almond-shaped palpebral fissures, posteriorly rotated ears, full lips, hypertrichosis, hoarse voice, low posterior hairline; hypertrichosis; no cryptorchidism; no GER; recurrent infections ears; no lymphatic involvement; no bleeding, no easy bruising; no hearing problems" "" "" "" "" "" "" "" "neurodegeneration" "0000232898" "05611" "00307080" "00006" "Familial, autosomal recessive" "3y2m" "birth height 50.8 cm (+0.48 SD), weight 3,657 g (+0.62 SD); height 89 cm (-2.21 SD), weight 12.8 kg (-1.13 SD), OFC 48.5 cm (-1.34 SD); developmental delay; intellectual disability; speech dealy, apraxia; very active, destructive, affectionate, autistic spectrum disorder; learning disorder; no hypotonia; 4m-epilepsy, infantile spasms, controlled with vigabatrin; atrial septal defect; tapered fingers, with broad bast at MP joints tapering to the distal phalanges, scapular winging; hypertelorism, ptosis, wide mouth, full lips, small lower incisors, widely spaced teeth, webbed/short neck; dry skin; no cryptorchidism; history of aspiration; no recurrent infections; no lymphatic involvement; no bleeding, no easy bruising; no hearing problems; 4m-normal MRI/CT; duplicated collecting system right kidney" "" "" "" "" "" "" "" "neurodegeneration" "0000232899" "05611" "00307081" "00006" "Familial, autosomal recessive" "15y" "birth height 50.2 cm (+0.17 SD), weight 3,062 g (-0.6 SD); 14y10m-height 122 cm (-5.92 SD), weight 16.1 kg (-7.77 SD), OFC 44 cm (-7.4 SD); developmental delay; intellectual disability; speech dealy; occasionally aggressive; learning disorder; hypotonia, axial hypotone with increased distal tone; no epilepsy; no cardiac defect; dextroconvex thoracolumbar scoliosis, dislocation/subluxati on of the left femoral head, clinodactyly, overlapping toes, prominent heels, bilateral clubfoot, limited elbow extension; microcephaly, plagiocephaly, highly arched eyebrow, long eyelashes, downslanted palpebral fissures, severe ptosis (unsuccessfully treated), malar hypoplasia, low-set posteriorly rotated ears, carp-shaped mouth, long philtrum, crowded teeth, mandibular micrognathia, coarse facies, generalized hirsutism, low posterior hairline; freckling (forehead), several 5-10 mm, hyperpigmented macules (feet, dorsal), thin nails, hypertrichosis; cryptorchidism; GER; no recurrent infections; no lymphatic involvement; no bleeding, no easy bruising; no hearing problems; suspicious for bowel malrotation, inflammatory bowel disease (Crohn\'s disease), marked atrophy left kidney" "" "" "" "" "" "" "" "neurodegeneration" "0000232900" "05611" "00307082" "00006" "Familial, autosomal recessive" "8y" "birth height 47 cm (-1.52 SD), weight 2,170 g (-2.75 SD), OFC 33.5 cm (-1.11 SD); height 111 cm (-2.88 SD), weight 18 kg (-2.65 SD), OFC 48 cm (-3.25 SD); developmental delay; intellectual disability; speech dealy; severe attention deficit hyperactivity disorder; learning disorder; hypotonia; 5y-epilepsy, generalized seizures, controlled with valproic acid; no cardiac defect; hyperlaxity, short and puffy hands and feet, tapered fingers, mild metatarsus varus; prominent metopic ridge, bitemporal narrowing, mild hypertelorism, downslanted palpebral fissures, ptosis, low-set posteriorly rotated ears, wide nasal bridge, high arched palate, widely spaced teeth, pointed chin, low posterior hairline, webbed/short neck; no skin anomalies; no cryptorchidism; no GER; no recurrent infections; no lymphatic involvement; no bleeding, no easy bruising; no hearing problems; normal MRI/CT" "" "" "" "" "" "" "" "neurodegeneration" ## Screenings ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000308218" "00307076" "1" "00006" "00006" "2020-07-30 09:03:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308219" "00307077" "1" "00006" "00006" "2020-07-30 09:03:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308220" "00307078" "1" "00006" "00006" "2020-07-30 09:03:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308221" "00307079" "1" "00006" "00006" "2020-07-30 09:03:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308222" "00307080" "1" "00006" "00006" "2020-07-30 09:03:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308223" "00307081" "1" "00006" "00006" "2020-07-30 09:03:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308224" "00307082" "1" "00006" "00006" "2020-07-30 09:03:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{geneid}}" "0000308218" "MAPK1" "0000308219" "MAPK1" "0000308220" "MAPK1" "0000308221" "MAPK1" "0000308222" "MAPK1" "0000308223" "MAPK1" "0000308224" "MAPK1" ## 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 = 22 "{{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}}" "0000283623" "0" "50" "22" "22162017" "22162017" "subst" "0" "02329" "MAPK1_000001" "g.22162017G>A" "" "" "" "MAPK1(NM_002745.5):c.238C>T (p.H80Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21807728G>A" "" "VUS" "" "0000571521" "0" "10" "22" "22221726" "22221728" "dup" "0" "01943" "MAPK1_000003" "g.22221726_22221728dup" "" "" "" "MAPK1(NM_002745.4):c.20_22dupCGG (p.A7dup), MAPK1(NM_002745.5):c.20_22dup (p.(Ala7dup)), MAPK1(NM_002745.5):c.20_22dupCGG (p.A7dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21867436_21867438dup" "" "benign" "" "0000571522" "0" "30" "22" "22221726" "22221728" "dup" "0" "02325" "MAPK1_000003" "g.22221726_22221728dup" "" "" "" "MAPK1(NM_002745.4):c.20_22dupCGG (p.A7dup), MAPK1(NM_002745.5):c.20_22dup (p.(Ala7dup)), MAPK1(NM_002745.5):c.20_22dupCGG (p.A7dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21867436_21867438dup" "" "likely benign" "" "0000675075" "0" "90" "22" "22153389" "22153389" "subst" "0" "00006" "MAPK1_000008" "g.22153389G>A" "" "{PMID:Motta 2020:32721402}, {DOI:Motta 2020:10.1016/j.ajhg.2020.06.018}" "" "" "ACMG PS2, PS3, PM1, PM2, PP2, PP3" "De novo" "" "" "0" "" "" "g.21799100G>A" "" "pathogenic (dominant)" "ACMG" "0000675076" "0" "90" "22" "22127175" "22127175" "subst" "0" "00006" "MAPK1_000006" "g.22127175T>C" "" "{PMID:Motta 2020:32721402}, {DOI:Motta 2020:10.1016/j.ajhg.2020.06.018}" "" "" "ACMG PS2, PS3, PM1, PM2, PP2, PP3" "De novo" "" "" "0" "" "" "g.21772886T>C" "" "pathogenic (dominant)" "ACMG" "0000675077" "0" "90" "22" "22162017" "22162017" "subst" "0" "00006" "MAPK1_000001" "g.22162017G>A" "" "{PMID:Motta 2020:32721402}, {DOI:Motta 2020:10.1016/j.ajhg.2020.06.018}" "" "" "ACMG PS2, PS3, PM1, PM2, PP2, PP3" "De novo" "" "" "0" "" "" "g.21807728G>A" "" "pathogenic (dominant)" "ACMG" "0000675078" "0" "90" "22" "22127176" "22127176" "subst" "0" "00006" "MAPK1_000007" "g.22127176C>T" "" "{PMID:Motta 2020:32721402}, {DOI:Motta 2020:10.1016/j.ajhg.2020.06.018}" "" "" "ACMG PS2, PS3, PM1, PM2, PP2, PP3" "De novo" "" "" "0" "" "" "g.21772887C>T" "" "pathogenic (dominant)" "ACMG" "0000675079" "0" "90" "22" "22123608" "22123608" "subst" "0" "00006" "MAPK1_000004" "g.22123608G>C" "" "{PMID:Motta 2020:32721402}, {DOI:Motta 2020:10.1016/j.ajhg.2020.06.018}" "" "" "ACMG PS2, PS3, PM1, PM2, PP2, PP3" "De novo" "" "" "0" "" "" "g.21769319G>C" "" "pathogenic (dominant)" "ACMG" "0000675080" "0" "90" "22" "22127164" "22127164" "subst" "0" "00006" "MAPK1_000005" "g.22127164C>G" "" "{PMID:Motta 2020:32721402}, {DOI:Motta 2020:10.1016/j.ajhg.2020.06.018}" "" "" "ACMG PS2, PS3, PM1, PM2, PM5, PP2, PP3" "De novo" "" "" "0" "" "" "g.21772875C>G" "" "pathogenic (dominant)" "ACMG" "0000675081" "0" "90" "22" "22162034" "22162034" "subst" "0" "00006" "MAPK1_000009" "g.22162034A>T" "" "{PMID:Motta 2020:32721402}, {DOI:Motta 2020:10.1016/j.ajhg.2020.06.018}" "" "" "ACMG PS2, PS3, PM1, PM2, PP2, PP3" "De novo" "" "" "0" "" "" "g.21807745A>T" "" "pathogenic (dominant)" "ACMG" "0000728057" "0" "50" "22" "22161974" "22161974" "subst" "0.000289067" "02325" "MAPK1_000010" "g.22161974G>A" "" "" "" "MAPK1(NM_002745.4):c.281C>T (p.(Thr94Ile)), MAPK1(NM_002745.5):c.281C>T (p.T94I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866739" "0" "50" "22" "22127197" "22127197" "subst" "0" "02327" "MAPK1_000011" "g.22127197G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927114" "0" "70" "22" "22127165" "22127165" "subst" "0" "02329" "MAPK1_000012" "g.22127165G>C" "" "" "" "MAPK1(NM_002745.5):c.963C>G (p.D321E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000927115" "0" "90" "22" "22127176" "22127176" "subst" "0" "02327" "MAPK1_000007" "g.22127176C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000984130" "0" "50" "22" "22161974" "22161974" "subst" "0.000289067" "01804" "MAPK1_000010" "g.22161974G>A" "" "" "" "MAPK1(NM_002745.4):c.281C>T (p.(Thr94Ile)), MAPK1(NM_002745.5):c.281C>T (p.T94I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984131" "0" "30" "22" "22162126" "22162126" "subst" "0.0464129" "01804" "MAPK1_000013" "g.22162126A>G" "" "" "" "MAPK1(NM_002745.5):c.129T>C (p.(Tyr43=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984132" "0" "30" "22" "22221726" "22221728" "dup" "0" "01804" "MAPK1_000003" "g.22221726_22221728dup" "" "" "" "MAPK1(NM_002745.4):c.20_22dupCGG (p.A7dup), MAPK1(NM_002745.5):c.20_22dup (p.(Ala7dup)), MAPK1(NM_002745.5):c.20_22dupCGG (p.A7dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043744" "0" "30" "22" "22123356" "22123356" "subst" "0" "01804" "MAPK1_000014" "g.22123356T>A" "" "" "" "MAPK1(NM_138957.3):c.*137A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043745" "0" "50" "22" "22143067" "22143067" "subst" "0" "01804" "MAPK1_000015" "g.22143067C>T" "" "" "" "MAPK1(NM_002745.5):c.640G>A (p.(Val214Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043746" "0" "30" "22" "22203266" "22203266" "subst" "0" "01804" "MAPK1_000016" "g.22203266G>A" "" "" "" "MAPK1(NM_002745.5):c.119+18346C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043747" "0" "50" "22" "22221723" "22221728" "dup" "0" "01804" "MAPK1_000017" "g.22221723_22221728dup" "" "" "" "MAPK1(NM_002745.5):c.17_22dup (p.(Ala6_Ala7dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001057088" "0" "50" "22" "22160235" "22160235" "subst" "0" "01804" "MAPK1_000018" "g.22160235C>G" "" "" "" "MAPK1(NM_002745.5):c.396G>C (p.(Gln132His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes MAPK1 ## Count = 22 "{{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}}" "0000283623" "00011777" "50" "238" "0" "238" "0" "c.238C>T" "r.(?)" "p.(His80Tyr)" "" "0000571521" "00011777" "10" "20" "0" "22" "0" "c.20_22dup" "r.(?)" "p.(Ala7dup)" "" "0000571522" "00011777" "30" "20" "0" "22" "0" "c.20_22dup" "r.(?)" "p.(Ala7dup)" "" "0000675075" "00011777" "90" "521" "0" "521" "0" "c.521C>T" "r.(?)" "p.(Ala174Val)" "" "0000675076" "00011777" "90" "953" "0" "953" "0" "c.953A>G" "r.(?)" "p.(Asp318Gly)" "" "0000675077" "00011777" "90" "238" "0" "238" "0" "c.238C>T" "r.(?)" "p.(His80Tyr)" "" "0000675078" "00011777" "90" "952" "0" "952" "0" "c.952G>A" "r.(?)" "p.(Asp318Asn)" "" "0000675079" "00011777" "90" "968" "0" "968" "0" "c.968C>G" "r.(?)" "p.(Pro323Arg)" "" "0000675080" "00011777" "90" "964" "0" "964" "0" "c.964G>C" "r.(?)" "p.(Glu322Gln)" "" "0000675081" "00011777" "90" "221" "0" "221" "0" "c.221T>A" "r.(?)" "p.(Ile74Asn)" "" "0000728057" "00011777" "50" "281" "0" "281" "0" "c.281C>T" "r.(?)" "p.(Thr94Ile)" "" "0000866739" "00011777" "50" "931" "0" "931" "0" "c.931C>G" "r.(?)" "p.(Pro311Ala)" "" "0000927114" "00011777" "70" "963" "0" "963" "0" "c.963C>G" "r.(?)" "p.(Asp321Glu)" "" "0000927115" "00011777" "90" "952" "0" "952" "0" "c.952G>A" "r.(?)" "p.(Asp318Asn)" "" "0000984130" "00011777" "50" "281" "0" "281" "0" "c.281C>T" "r.(?)" "p.(Thr94Ile)" "" "0000984131" "00011777" "30" "129" "0" "129" "0" "c.129T>C" "r.(?)" "p.(=)" "" "0000984132" "00011777" "30" "20" "0" "22" "0" "c.20_22dup" "r.(?)" "p.(Ala7dup)" "" "0001043744" "00011777" "30" "1092" "128" "1092" "128" "c.*9+128A>T" "r.(=)" "p.(=)" "" "0001043745" "00011777" "50" "640" "0" "640" "0" "c.640G>A" "r.(?)" "p.(Val214Ile)" "" "0001043746" "00011777" "30" "119" "18346" "119" "18346" "c.119+18346C>T" "r.(=)" "p.(=)" "" "0001043747" "00011777" "50" "17" "0" "22" "0" "c.17_22dup" "r.(?)" "p.(Ala6_Ala7dup)" "" "0001057088" "00011777" "50" "396" "0" "396" "0" "c.396G>C" "r.(?)" "p.(Gln132His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000308218" "0000675075" "0000308219" "0000675076" "0000308220" "0000675077" "0000308221" "0000675078" "0000308222" "0000675079" "0000308223" "0000675080" "0000308224" "0000675081"