### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MAP3K7) # 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}}" "MAP3K7" "mitogen-activated protein kinase kinase kinase 7" "6" "q15" "unknown" "NG_011966.2" "UD_134408353075" "" "https://www.LOVD.nl/MAP3K7" "" "1" "6859" "6885" "602614" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/MAP3K7_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2009-02-18 00:00:00" "00006" "2017-10-21 23:54:45" "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}}" "00011754" "MAP3K7" "transcript variant B" "004" "NM_145331.2" "" "NP_663304.1" "" "" "" "-418" "4749" "1821" "91297020" "91223292" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00782" "FMD1" "dysplasia, frontometaphyseal (FMD1)" "XLR" "305620" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-04-03 16:49:54" "05334" "CSCF" "cardiospondylocarpofacial syndrome (CSCF)" "AD" "157800" "" "" "" "00006" "2017-10-21 23:51:06" "00006" "2021-12-10 21:51:32" "06697" "FMD2" "Frontometaphyseal dysplasia 2" "AD" "617137" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "MAP3K7" "05334" "MAP3K7" "06697" ## Individuals ## Do not remove or alter this header ## ## Count = 22 "{{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}}" "00078582" "" "" "" "1" "" "01604" "{PMID:Wade 2016:27426733}, {DOI:Wade 2016:10.1016/j.ajhg.2016.05.024}" "" "M" "" "Italy" "" "0" "" "" "Italian" "27426733-Pat01" "00078583" "" "" "" "1" "" "01604" "{PMID:Wade 2016:27426733}, {DOI:Wade 2016:10.1016/j.ajhg.2016.05.024}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "English" "27426733-Pat02" "00078584" "" "" "" "1" "" "01604" "{PMID:Wade 2016:27426733}, {DOI:Wade 2016:10.1016/j.ajhg.2016.05.024}" "" "M" "" "Austria" "" "0" "" "" "Austrian" "27426733-Pat03" "00078585" "" "" "" "1" "" "01604" "{PMID:Wade 2016:27426733}, {DOI:Wade 2016:10.1016/j.ajhg.2016.05.024}" "" "M" "" "Australia" "" "0" "" "" "European" "27426733-Pat04" "00078586" "" "" "" "1" "" "01604" "{PMID:Wade 2016:27426733}, {DOI:Wade 2016:10.1016/j.ajhg.2016.05.024}" "" "M" "" "Scotland" "" "0" "" "" "Scottish" "27426733-Pat05" "00078587" "" "" "" "1" "" "01604" "{PMID:Wade 2016:27426733}, {DOI:Wade 2016:10.1016/j.ajhg.2016.05.024}" "" "M" "" "Switzerland" "" "0" "" "" "Swiss" "27426733-Pat06" "00078588" "" "" "" "1" "" "01604" "{PMID:Wade 2016:27426733}, {DOI:Wade 2016:10.1016/j.ajhg.2016.05.024}" "" "M" "" "Korea" "" "0" "" "" "Korean" "27426733-Pat08" "00078589" "" "" "" "1" "" "01604" "{PMID:Wade 2016:27426733}, {DOI:Wade 2016:10.1016/j.ajhg.2016.05.024}" "" "F" "" "" "" "0" "" "" "Hispanic" "27426733-Pat09" "00078590" "" "" "" "1" "" "01604" "{PMID:Wade 2016:27426733}, {DOI:Wade 2016:10.1016/j.ajhg.2016.05.024}" "" "M" "" "Brazil" "" "0" "" "" "Brazilian" "27426733-Pat07" "00078591" "" "" "" "1" "" "01604" "{PMID:Wade 2016:27426733}, {DOI:Wade 2016:10.1016/j.ajhg.2016.05.024}" "" "F" "" "Turkey" "" "0" "" "" "Turkish" "27426733-Pat10" "00078592" "" "" "" "1" "" "01604" "{PMID:Wade 2016:27426733}, {DOI:Wade 2016:10.1016/j.ajhg.2016.05.024}" "" "F" "" "Mexico" "" "0" "" "" "Mexican" "27426733-Pat11" "00078593" "" "" "" "1" "" "01604" "{PMID:Wade 2016:27426733}, {DOI:Wade 2016:10.1016/j.ajhg.2016.05.024}" "" "F" "" "Germany" "" "0" "" "" "German" "27426733-Pat12" "00078594" "" "" "" "1" "" "01604" "{PMID:Wade 2016:27426733}, {DOI:Wade 2016:10.1016/j.ajhg.2016.05.024}" "Inheritance unknown." "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "English" "27426733-Pat13" "00078595" "" "" "" "1" "" "01604" "{PMID:Wade 2016:27426733}, {DOI:Wade 2016:10.1016/j.ajhg.2016.05.024}" "" "F" "" "Germany" "" "0" "" "" "German" "27426733-Pat14" "00078596" "" "" "" "1" "" "01604" "{PMID:Wade 2016:27426733}, {DOI:Wade 2016:10.1016/j.ajhg.2016.05.024}" "" "F" "" "Netherlands" "" "0" "" "" "Dutch" "27426733-Pat15" "00078597" "" "" "" "1" "" "01604" "{PMID:Wade 2016:27426733}, {DOI:Wade 2016:10.1016/j.ajhg.2016.05.024}" "" "F" "" "Australia" "" "0" "" "" "European" "27426733-Pat16" "00078696" "" "" "" "1" "" "01604" "{PMID:Wade 2016:27426733}, {DOI:Wade 2016:10.1016/j.ajhg.2016.05.024}" "" "F" "" "Canada" "" "0" "" "" "French" "27426733-Pat18" "00078697" "" "" "" "1" "" "01604" "{PMID:Wade 2016:27426733}, {DOI:Wade 2016:10.1016/j.ajhg.2016.05.024}" "" "F" "" "Hungary" "" "0" "" "" "Hungarian" "27426733-Pat19" "00132079" "" "" "" "1" "" "02284" "{PMID:Morlino 2018:29467388}, {DOI:Morlino 2018:10.1038/s41431-017-0079-x}" "2-generation family, 1 affected" "F" "no" "Italy" "" "0" "" "" "white" "" "00183689" "" "" "" "1" "" "00006" "{PMID:Martinez 2017:27620904}, {DOI:Martinez 2017:10.1136/jmedgenet-2017-103964}" "" "" "" "Spain" "" "0" "" "" "" "27620904-Pat34" "00410559" "" "" "" "1" "" "00006" "{PMID:Schuermans 2022:35606766}" "analysis 329 adult patients suffering from undiagnosed rare disease" "F" "" "Belgium" "" "0" "" "" "" "Pat21" "00434624" "" "" "" "1" "" "01164" "" "" "M" "?" "? (unknown)" "" "0" "" "" "" "251869" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 22 "{{individualid}}" "{{diseaseid}}" "00078582" "00782" "00078583" "00782" "00078584" "00782" "00078585" "00782" "00078586" "00782" "00078587" "00782" "00078588" "00782" "00078589" "00782" "00078590" "00782" "00078591" "00782" "00078592" "00782" "00078593" "00782" "00078594" "00782" "00078595" "00782" "00078596" "00782" "00078597" "00782" "00078696" "00782" "00078697" "00782" "00132079" "05334" "00183689" "00139" "00410559" "00198" "00434624" "06697" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00782, 05334, 06697 ## Count = 22 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000058350" "00782" "00078582" "01604" "Familial, X-linked recessive" "" "supraorbital ridges (HP:?), small chin (HP:0000331), hearing loss (HP:0000365), hypertelorism (HP:0000316), downslanting palpebral fissures (HP:0000494), wide nasal bridge (HP:0000431), no cleft palate (-HP:0000175), no bifid uvula (-HP:0000193), congenital stridor (HP:0004886), subglottic stenosis (HP:0001607), hydronephrosis (HP:0000126), scoliosis (HP:0002650), no intellectual disability (-HP:0001249), no keloid (-HP:0010562), cervical vertebral fusion (HP:0002949), elbow contractures (HP:0002987), dislocated radial head (HP:0003083), flared metaphyses (HP:0003015), digital and wrist contractures (HP:0001239), under modeled phalanges (HP:?), broad thumbs (HP:0011304), broad fingers (HP:0001500)" "" "" "" "" "" "" "" "" "" "" "" "0000058351" "00782" "00078583" "01604" "Familial, X-linked recessive" "" "supraorbital ridges (HP:?), small chin (HP:0000331), hearing loss (HP:0000365), hypertelorism (HP:0000316), downslanting palpebral fissures (HP:0000494), wide nasal bridge (HP:0000431), cleft palate (HP:0000175), bifid uvula (HP:0000193), congenital stridor (HP:0004886), subglottic stenosis (HP:0001607), no hydronephrosis (-HP:0000126), scoliosis (HP:0002650), intellectual disability (HP:0001249), no keloid (-HP:0010562), cervical vertebral fusion (HP:0002949), elbow contractures (HP:0002987), dislocated radial head (HP:0003083), flared metaphyses (HP:0003015), digital and wrist contractures (HP:0001239), under modeled phalanges (HP:?), broad thumbs (HP:0011304), broad fingers (HP:0001500)" "" "" "" "" "" "" "" "" "" "" "" "0000058352" "00782" "00078584" "01604" "Familial, autosomal recessive" "" "supraorbital ridges (HP:?), no small chin (-HP:0000331), hearing loss (HP:0000365), hypertelorism (HP:0000316), downslanting palpebral fissures (HP:0000494), wide nasal bridge (HP:0000431), no cleft palate (-HP:0000175), no bifid uvula (-HP:0000193), scoliosis (HP:0002650), intellectual disability (HP:0001249), no keloid (-HP:0010562), elbow contractures (HP:0002987), dislocated radial head (HP:0003083), digital and wrist contractures (HP:0001239), broad thumbs (HP:0011304), broad fingers (HP:0001500)" "" "" "" "" "" "" "" "" "" "" "" "0000058353" "00782" "00078585" "01604" "Familial, X-linked recessive" "" "supraorbital ridges (HP:?), no small chin (-HP:0000331), hearing loss (HP:0000365), hypertelorism (HP:0000316), downslanting palpebral fissures (HP:0000494), wide nasal bridge (HP:0000431), no intellectual disability (-HP:0001249), no keloid (-HP:0010562), elbow contractures (HP:0002987), dislocated radial head (HP:0003083), digital and wrist contractures (HP:0001239)" "" "" "" "" "" "" "" "" "" "" "" "0000058354" "00782" "00078586" "01604" "Familial, X-linked recessive" "" "supraorbital ridges (HP:?), small chin (HP:0000331), hearing loss (HP:0000365), hypertelorism (HP:0000316), downslanting palpebral fissures (HP:0000494), wide nasal bridge (HP:0000431), no cleft palate (-HP:0000175), no bifid uvula (-HP:0000193), no congenital stridor (-HP:0004886), no subglottic stenosis (-HP:0001607), no hydronephrosis (-HP:0000126), scoliosis (HP:0002650), no intellectual disability (-HP:0001249), keloid (HP:0010562), no cervical vertebral fusion (-HP:0002949), elbow contractures (HP:0002987), dislocated radial head (HP:0003083), flared metaphyses (HP:0003015), digital and wrist contractures (HP:0001239), under modeled phalanges (HP:?), broad thumbs (HP:0011304), broad fingers (HP:0001500)" "" "" "" "" "" "" "" "" "" "" "" "0000058355" "00782" "00078587" "01604" "Familial, X-linked recessive" "" "supraorbital ridges (HP:?), small chin (HP:0000331), hypertelorism (HP:0000316), downslanting palpebral fissures (HP:0000494), wide nasal bridge (HP:0000431), no cleft palate (-HP:0000175), no bifid uvula (-HP:0000193), no congenital stridor (-HP:0004886), no subglottic stenosis (-HP:0001607), no hydronephrosis (-HP:0000126), scoliosis (HP:0002650), intellectual disability (HP:0001249), no keloid (-HP:0010562), no cervical vertebral fusion (-HP:0002949), elbow contractures (HP:0002987), dislocated radial head (HP:0003083), flared metaphyses (HP:0003015), digital and wrist contractures (HP:0001239), under modeled phalanges (HP:?), broad thumbs (HP:0011304), broad fingers (HP:0001500)" "" "" "" "" "" "" "" "" "" "" "" "0000058356" "00782" "00078588" "01604" "Familial, X-linked recessive" "" "supraorbital ridges (HP:?), small chin (HP:0000331), hearing loss (HP:0000365), hypertelorism (HP:0000316), no downslanting palpebral fissures (-HP:0000494), wide nasal bridge (HP:0000431), no cleft palate (-HP:0000175), no bifid uvula (-HP:0000193), congenital stridor (HP:0004886), subglottic stenosis (HP:0001607), no hydronephrosis (-HP:0000126), scoliosis (HP:0002650), no intellectual disability (-HP:0001249), keloid (HP:0010562), cervical vertebral fusion (HP:0002949), elbow contractures (HP:0002987), dislocated radial head (HP:0003083), flared metaphyses (HP:0003015), digital and wrist contractures (HP:0001239), under modeled phalanges (HP:?), broad thumbs (HP:0011304), broad fingers (HP:0001500)" "" "" "" "" "" "" "" "" "" "" "" "0000058357" "00782" "00078589" "01604" "Familial, autosomal recessive" "" "supraorbital ridges (HP:?), small chin (HP:0000331), hearing loss (HP:0000365), hypertelorism (HP:0000316), downslanting palpebral fissures (HP:0000494), wide nasal bridge (HP:0000431), cleft palate (HP:0000175), bifid uvula (HP:0000193), no congenital stridor (-HP:0004886), no subglottic stenosis (-HP:0001607), no hydronephrosis (-HP:0000126), no scoliosis (-HP:0002650), no intellectual disability (-HP:0001249), keloid (HP:0010562), cervical vertebral fusion (HP:0002949), elbow contractures (HP:0002987), dislocated radial head (HP:0003083), flared metaphyses (HP:0003015), digital and wrist contractures (HP:0001239), under modeled phalanges (HP:?), broad thumbs (HP:0011304), broad fingers (HP:0001500)" "" "" "" "" "" "" "" "" "" "" "" "0000058358" "00782" "00078590" "01604" "Familial, X-linked recessive" "" "supraorbital ridges (HP:?), no small chin (-HP:0000331), no hearing loss (-HP:0000365), hypertelorism (HP:0000316), no downslanting palpebral fissures (-HP:0000494), wide nasal bridge (HP:0000431), no cleft palate (-HP:0000175), no bifid uvula (-HP:0000193), no congenital stridor (-HP:0004886), no subglottic stenosis (-HP:0001607), no hydronephrosis (-HP:0000126), scoliosis (HP:0002650), no intellectual disability (-HP:0001249), no keloid (-HP:0010562), cervical vertebral fusion (HP:0002949), elbow contractures (HP:0002987), dislocated radial head (HP:0003083), no flared metaphyses (-HP:0003015), digital and wrist contractures (HP:0001239), under modeled phalanges (HP:?), no broad thumbs (-HP:0011304), no broad fingers (-HP:0001500)" "" "" "" "" "" "" "" "" "" "" "" "0000058359" "00782" "00078591" "01604" "Familial, X-linked recessive" "" "supraorbital ridges (HP:?), small chin (HP:0000331), hearing loss (HP:0000365), hypertelorism (HP:0000316), downslanting palpebral fissures (HP:0000494), wide nasal bridge (HP:0000431), no cleft palate (-HP:0000175), no bifid uvula (-HP:0000193), no congenital stridor (-HP:0004886), no subglottic stenosis (-HP:0001607), no hydronephrosis (-HP:0000126), scoliosis (HP:0002650), no intellectual disability (-HP:0001249), keloid (HP:0010562), cervical vertebral fusion (HP:0002949), elbow contractures (HP:0002987), dislocated radial head (HP:0003083), flared metaphyses (HP:0003015), digital and wrist contractures (HP:0001239), under modeled phalanges (HP:?), broad thumbs (HP:0011304), broad fingers (HP:0001500)" "" "" "" "" "" "" "" "" "" "" "" "0000058360" "00782" "00078592" "01604" "Familial, X-linked recessive" "" "supraorbital ridges (HP:?), no small chin (-HP:0000331), hearing loss (HP:0000365), hypertelorism (HP:0000316), downslanting palpebral fissures (HP:0000494), wide nasal bridge (HP:0000431), no cleft palate (-HP:0000175), no bifid uvula (-HP:0000193), congenital stridor (HP:0004886), subglottic stenosis (HP:0001607), no hydronephrosis (-HP:0000126), scoliosis (HP:0002650), no intellectual disability (-HP:0001249), keloid (HP:0010562), cervical vertebral fusion (HP:0002949), elbow contractures (HP:0002987), dislocated radial head (HP:0003083), flared metaphyses (HP:0003015), digital and wrist contractures (HP:0001239), under modeled phalanges (HP:?), broad thumbs (HP:0011304), broad fingers (HP:0001500)" "" "" "" "" "" "" "" "" "" "" "" "0000058361" "00782" "00078593" "01604" "Familial, X-linked recessive" "" "supraorbital ridges (HP:?), small chin (HP:0000331), hearing loss (HP:0000365), hypertelorism (HP:0000316), downslanting palpebral fissures (HP:0000494), wide nasal bridge (HP:0000431), cleft palate (HP:0000175), bifid uvula (HP:0000193), congenital stridor (HP:0004886), subglottic stenosis (HP:0001607), no hydronephrosis (-HP:0000126), no scoliosis (-HP:0002650), intellectual disability (HP:0001249), no keloid (-HP:0010562), elbow contractures (HP:0002987), dislocated radial head (HP:0003083), digital and wrist contractures (HP:0001239), broad thumbs (HP:0011304), broad fingers (HP:0001500)" "" "" "" "" "" "" "" "" "" "" "" "0000058362" "00782" "00078594" "01604" "Familial, X-linked recessive" "" "supraorbital ridges (HP:?), small chin (HP:0000331), hearing loss (HP:0000365), hypertelorism (HP:0000316), downslanting palpebral fissures (HP:0000494), wide nasal bridge (HP:0000431), cleft palate (HP:0000175), bifid uvula (HP:0000193), congenital stridor (HP:0004886), subglottic stenosis (HP:0001607), no hydronephrosis (-HP:0000126), scoliosis (HP:0002650), no intellectual disability (-HP:0001249), keloid (HP:0010562), no cervical vertebral fusion (-HP:0002949), elbow contractures (HP:0002987), dislocated radial head (HP:0003083), flared metaphyses (HP:0003015), digital and wrist contractures (HP:0001239), under modeled phalanges (HP:?), broad thumbs (HP:0011304), broad fingers (HP:0001500)" "" "" "" "" "" "" "" "" "" "" "" "0000058363" "00782" "00078595" "01604" "Familial, X-linked recessive" "" "supraorbital ridges (HP:?), small chin (HP:0000331), hypertelorism (HP:0000316), downslanting palpebral fissures (HP:0000494), wide nasal bridge (HP:0000431), no cleft palate (-HP:0000175), no bifid uvula (-HP:0000193), no intellectual disability (-HP:0001249), no keloid (-HP:0010562), cervical vertebral fusion (HP:0002949), elbow contractures (HP:0002987), dislocated radial head (HP:0003083), digital and wrist contractures (HP:0001239), broad thumbs (HP:0011304), broad fingers (HP:0001500)" "" "" "" "" "" "" "" "" "" "" "" "0000058364" "00782" "00078596" "01604" "Familial, X-linked recessive" "" "supraorbital ridges (HP:?), small chin (HP:0000331), hearing loss (HP:0000365), hypertelorism (HP:0000316), downslanting palpebral fissures (HP:0000494), wide nasal bridge (HP:0000431), cleft palate (HP:0000175), bifid uvula (HP:0000193), no congenital stridor (-HP:0004886), no subglottic stenosis (-HP:0001607), no hydronephrosis (-HP:0000126), no scoliosis (-HP:0002650), no intellectual disability (-HP:0001249), keloid (HP:0010562), no cervical vertebral fusion (-HP:0002949), elbow contractures (HP:0002987), dislocated radial head (HP:0003083), flared metaphyses (HP:0003015), digital and wrist contractures (HP:0001239), under modeled phalanges (HP:?), broad thumbs (HP:0011304), broad fingers (HP:0001500)" "" "" "" "" "" "" "" "" "" "" "" "0000058365" "00782" "00078597" "01604" "Familial, X-linked recessive" "" "supraorbital ridges (HP:?), small chin (HP:0000331), hearing loss (HP:0000365), hypertelorism (HP:0000316), downslanting palpebral fissures (HP:0000494), wide nasal bridge (HP:0000431), no cleft palate (-HP:0000175), no bifid uvula (-HP:0000193), no congenital stridor (-HP:0004886), no subglottic stenosis (-HP:0001607), hydronephrosis (HP:0000126), scoliosis (HP:0002650), no intellectual disability (-HP:0001249), keloid (HP:0010562), cervical vertebral fusion (HP:0002949), elbow contractures (HP:0002987), dislocated radial head (HP:0003083), flared metaphyses (HP:0003015), digital and wrist contractures (HP:0001239), under modeled phalanges (HP:?), broad thumbs (HP:0011304), broad fingers (HP:0001500)" "" "" "" "" "" "" "" "" "" "" "" "0000058464" "00782" "00078696" "01604" "Familial, autosomal recessive" "" "supraorbital ridges (HP:?), small chin (HP:0000331), hearing loss (HP:0000365), hypertelorism (HP:0000316), downslanting palpebral fissures (HP:0000494), wide nasal bridge (HP:0000431), no cleft palate (-HP:0000175), no bifid uvula (-HP:0000193), scoliosis (HP:0002650), no intellectual disability (-HP:0001249), no keloid (-HP:0010562), no cervical vertebral fusion (-HP:0002949), no flared metaphyses (-HP:0003015), no digital and wrist contractures (-HP:0001239), under modeled phalanges (HP:?)" "" "" "" "" "" "" "" "" "" "" "" "0000058465" "00782" "00078697" "01604" "Familial, autosomal recessive" "" "supraorbital ridges (HP:?), small chin (HP:0000331), no hearing loss (-HP:0000365), hypertelorism (HP:0000316), downslanting palpebral fissures (HP:0000494), wide nasal bridge (HP:0000431), no cleft palate (-HP:0000175), no bifid uvula (-HP:0000193), no congenital stridor (-HP:0004886), no subglottic stenosis (-HP:0001607), no hydronephrosis (-HP:0000126), scoliosis (HP:0002650), no intellectual disability (-HP:0001249), no keloid (-HP:0010562), elbow contractures (HP:0002987), dislocated radial head (HP:0003083), flared metaphyses (HP:0003015), digital and wrist contractures (HP:0001239), broad thumbs (HP:0011304), broad fingers (HP:0001500)" "" "" "" "" "" "" "" "" "" "" "" "0000104259" "05334" "00132079" "02284" "Isolated (sporadic)" "" "see paper; ..., soft/dystrophic skin, extreme joint hypermobility, polyvalvular heart disease, upper gastrointestinal dismotility" "" "" "" "" "" "" "" "" "CSCF" "suspected hereditary connective tissue disorder" "" "0000144375" "00139" "00183689" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000302662" "00198" "00410559" "00006" "Isolated (sporadic)" "" "see paper; ..., onset childhood, small stature, cardiomyopathy, hearing loss, cervical vertebral fusions, facial dysmorphism, no family history" "" "" "" "" "" "" "" "" "CSCF" "" "" "0000324874" "06697" "00434624" "01164" "Unknown" "03y" "Neurodevelopmental abnormality, Delayed speech and language development, Hypotonia, Joint hypermobility, Aganglionic megacolon, Synophrys, Hypertrichosis, Cryptorchidism, Umbilical hernia, Patent foramen ovale, Supravalvular aortic stenosis" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 22 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000078766" "00078582" "1" "01604" "01604" "2016-07-21 10:28:04" "" "" "PCRq;SEQ;SEQ-NG-I;Western" "DNA;RNA" "" "" "0000078767" "00078583" "1" "01604" "01604" "2016-07-21 10:41:23" "" "" "PCRq;SEQ;SEQ-NG-I;Western" "DNA;RNA" "" "" "0000078768" "00078584" "1" "01604" "01604" "2016-07-21 10:51:06" "" "" "PCRq;SEQ;SEQ-NG-I;Western" "DNA;RNA" "" "" "0000078769" "00078585" "1" "01604" "01604" "2016-07-21 10:59:17" "" "" "PCRq;SEQ;SEQ-NG-I;Western" "DNA;RNA" "" "" "0000078770" "00078586" "1" "01604" "01604" "2016-07-21 11:05:29" "" "" "PCRq;SEQ;SEQ-NG-I;Western" "DNA;RNA" "" "" "0000078771" "00078587" "1" "01604" "01604" "2016-07-21 11:09:28" "" "" "PCRq;SEQ;SEQ-NG-I;Western" "DNA;RNA" "" "" "0000078772" "00078588" "1" "01604" "01604" "2016-07-21 11:16:19" "" "" "arrayCGH;PCRq;SEQ;SEQ-NG-I;Western" "DNA;RNA" "" "" "0000078773" "00078589" "1" "01604" "01604" "2016-07-21 11:20:21" "" "" "PCRq;SEQ;SEQ-NG-I;Western" "DNA;RNA" "" "" "0000078774" "00078590" "1" "01604" "01604" "2016-07-21 11:28:35" "" "" "PCRq;SEQ;SEQ-NG-I;Western" "DNA;RNA" "" "" "0000078775" "00078591" "1" "01604" "01604" "2016-07-21 11:36:20" "" "" "PCRq;SEQ;SEQ-NG-I;Western" "DNA;RNA" "" "" "0000078776" "00078592" "1" "01604" "01604" "2016-07-21 11:41:24" "" "" "PCRq;SEQ;SEQ-NG-I;Western" "DNA;RNA" "" "" "0000078777" "00078593" "1" "01604" "01604" "2016-07-21 11:45:50" "" "" "PCRq;SEQ;SEQ-NG-I;Western" "DNA;RNA" "" "" "0000078778" "00078594" "1" "01604" "01604" "2016-07-21 11:50:09" "" "" "PCRq;SEQ;SEQ-NG-I;Western" "DNA;RNA" "" "" "0000078779" "00078595" "1" "01604" "01604" "2016-07-21 11:55:30" "" "" "PCRq;SEQ;SEQ-NG-I;Western" "DNA;RNA" "" "" "0000078780" "00078596" "1" "01604" "01604" "2016-07-21 12:00:58" "" "" "PCRq;SEQ;SEQ-NG-I;Western" "DNA;RNA" "" "" "0000078781" "00078597" "1" "01604" "01604" "2016-07-21 12:04:20" "" "" "PCRq;SEQ;SEQ-NG-I;Western" "DNA;RNA" "" "" "0000078880" "00078696" "1" "01604" "01604" "2016-07-21 12:13:53" "" "" "PCRq;SEQ;SEQ-NG-I;Western" "DNA;RNA" "" "" "0000078881" "00078697" "1" "01604" "01604" "2016-07-21 12:17:37" "" "" "PCRq;SEQ;SEQ-NG-I;Western" "DNA;RNA" "" "" "0000132917" "00132079" "1" "02284" "02284" "2017-10-19 10:50:48" "" "" "RT-PCR;SEQ" "DNA;RNA" "Blood" "" "0000184657" "00183689" "1" "00006" "00006" "2018-10-27 10:06:27" "" "" "SEQ;SEQ-NG" "DNA" "" "1256 gene panel" "0000411824" "00410559" "1" "00006" "00006" "2022-05-29 10:39:10" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000436095" "00434624" "1" "01164" "01164" "2023-04-04 13:04:41" "" "" "SEQ-NG-I" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{geneid}}" "0000078766" "MAP3K7" "0000078767" "MAP3K7" "0000078768" "MAP3K7" "0000078769" "MAP3K7" "0000078770" "MAP3K7" "0000078771" "MAP3K7" "0000078772" "MAP3K7" "0000078773" "MAP3K7" "0000078774" "MAP3K7" "0000078775" "MAP3K7" "0000078776" "MAP3K7" "0000078777" "MAP3K7" "0000078778" "MAP3K7" "0000078779" "MAP3K7" "0000078780" "MAP3K7" "0000078781" "MAP3K7" "0000078880" "MAP3K7" "0000078881" "MAP3K7" "0000132917" "MAP3K7" "0000184657" "MAP3K7" "0000436095" "MAP3K7" ## 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 = 53 "{{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}}" "0000125871" "1" "90" "6" "91228271" "91228271" "subst" "0" "01604" "MAP3K7_000006" "g.91228271G>A" "" "{PMID:Wade 2016:27426733}, {DOI:Wade 2016:10.1016/j.ajhg.2016.05.024}" "" "" "" "De novo" "" "" "0" "" "" "g.90518552G>A" "" "pathogenic" "" "0000125872" "1" "90" "6" "91228271" "91228271" "subst" "0" "01604" "MAP3K7_000006" "g.91228271G>A" "" "{PMID:Wade 2016:27426733}, {DOI:Wade 2016:10.1016/j.ajhg.2016.05.024}" "" "" "" "De novo" "" "" "0" "" "" "g.90518552G>A" "" "pathogenic" "" "0000125873" "1" "90" "6" "91228271" "91228271" "subst" "0" "01604" "MAP3K7_000006" "g.91228271G>A" "" "{PMID:Wade 2016:27426733}, {DOI:Wade 2016:10.1016/j.ajhg.2016.05.024}" "" "" "" "Germline" "" "" "0" "" "" "g.90518552G>A" "" "pathogenic" "" "0000125874" "1" "90" "6" "91228271" "91228271" "subst" "0" "01604" "MAP3K7_000006" "g.91228271G>A" "" "{PMID:Wade 2016:27426733}, {DOI:Wade 2016:10.1016/j.ajhg.2016.05.024}" "" "" "" "Germline" "" "" "0" "" "" "g.90518552G>A" "" "pathogenic" "" "0000125875" "1" "90" "6" "91228271" "91228271" "subst" "0" "01604" "MAP3K7_000006" "g.91228271G>A" "" "{PMID:Wade 2016:27426733}, {DOI:Wade 2016:10.1016/j.ajhg.2016.05.024}" "" "" "" "De novo" "" "" "0" "" "" "g.90518552G>A" "" "pathogenic" "" "0000125876" "1" "90" "6" "91228271" "91228271" "subst" "0" "01604" "MAP3K7_000006" "g.91228271G>A" "" "{PMID:Wade 2016:27426733}, {DOI:Wade 2016:10.1016/j.ajhg.2016.05.024}" "" "" "" "Germline" "" "" "0" "" "" "g.90518552G>A" "" "pathogenic" "" "0000125877" "1" "90" "6" "91228271" "91228271" "subst" "0" "01604" "MAP3K7_000006" "g.91228271G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.90518552G>A" "" "pathogenic" "" "0000125878" "1" "90" "6" "91228271" "91228271" "subst" "0" "01604" "MAP3K7_000006" "g.91228271G>A" "" "{PMID:Wade 2016:27426733}, {DOI:Wade 2016:10.1016/j.ajhg.2016.05.024}" "" "" "" "Germline" "" "" "0" "" "" "g.90518552G>A" "" "pathogenic" "" "0000125879" "1" "70" "6" "91266324" "91266324" "subst" "0" "01604" "MAP3K7_000007" "g.91266324C>G" "" "{PMID:Wade 2016:27426733}, {DOI:Wade 2016:10.1016/j.ajhg.2016.05.024}" "" "" "" "De novo" "" "" "0" "" "" "g.90556605C>G" "" "likely pathogenic" "" "0000125880" "1" "90" "6" "91228271" "91228271" "subst" "0" "01604" "MAP3K7_000006" "g.91228271G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.90518552G>A" "" "pathogenic" "" "0000125881" "1" "90" "6" "91228271" "91228271" "subst" "0" "01604" "MAP3K7_000006" "g.91228271G>A" "" "{PMID:Wade 2016:27426733}, {DOI:Wade 2016:10.1016/j.ajhg.2016.05.024}" "" "" "" "Germline" "" "" "0" "" "" "g.90518552G>A" "" "pathogenic" "" "0000125882" "1" "90" "6" "91228271" "91228271" "subst" "0" "01604" "MAP3K7_000006" "g.91228271G>A" "" "{PMID:Wade 2016:27426733}, {DOI:Wade 2016:10.1016/j.ajhg.2016.05.024}" "" "" "" "De novo" "" "" "0" "" "" "g.90518552G>A" "" "pathogenic" "" "0000125883" "1" "90" "6" "91228271" "91228271" "subst" "0" "01604" "MAP3K7_000006" "g.91228271G>A" "" "{PMID:Wade 2016:27426733}, {DOI:Wade 2016:10.1016/j.ajhg.2016.05.024}" "" "" "" "Germline" "" "" "0" "" "" "g.90518552G>A" "" "pathogenic" "" "0000125884" "1" "90" "6" "91228271" "91228271" "subst" "0" "01604" "MAP3K7_000006" "g.91228271G>A" "" "{PMID:Wade 2016:27426733}, {DOI:Wade 2016:10.1016/j.ajhg.2016.05.024}" "" "" "" "De novo" "" "" "0" "" "" "g.90518552G>A" "" "pathogenic" "" "0000125885" "1" "90" "6" "91228271" "91228271" "subst" "0" "01604" "MAP3K7_000006" "g.91228271G>A" "" "{PMID:Wade 2016:27426733}, {DOI:Wade 2016:10.1016/j.ajhg.2016.05.024}" "" "" "" "Germline" "" "" "0" "" "" "g.90518552G>A" "" "pathogenic" "" "0000125886" "1" "90" "6" "91228271" "91228271" "subst" "0" "01604" "MAP3K7_000006" "g.91228271G>A" "" "{PMID:Wade 2016:27426733}, {DOI:Wade 2016:10.1016/j.ajhg.2016.05.024}" "" "" "" "De novo" "" "" "0" "" "" "g.90518552G>A" "" "pathogenic" "" "0000125888" "1" "70" "6" "91281439" "91281439" "subst" "0" "01604" "MAP3K7_000004" "g.91281439C>G" "" "{PMID:Wade 2016:27426733}, {DOI:Wade 2016:10.1016/j.ajhg.2016.05.024}" "" "" "" "Germline" "" "" "0" "" "" "g.90571720C>G" "" "likely pathogenic" "" "0000125889" "1" "70" "6" "91271385" "91271385" "subst" "0" "01604" "MAP3K7_000003" "g.91271385A>T" "" "{PMID:Wade 2016:27426733}, {DOI:Wade 2016:10.1016/j.ajhg.2016.05.024}" "" "" "" "Germline" "" "" "0" "" "" "g.90561666A>T" "" "likely pathogenic" "" "0000222104" "0" "90" "6" "91261905" "91261905" "subst" "0" "02284" "MAP3K7_000005" "g.91261905T>C" "" "{PMID:Morlino 2018:29467388}, {DOI:Morlino 2018:10.1038/s41431-017-0079-x}" "" "" "" "De novo" "" "" "0" "" "" "g.90552186T>C" "" "pathogenic (dominant)" "" "0000256638" "0" "50" "6" "91271347" "91271347" "subst" "0" "01943" "MAP3K7_000009" "g.91271347A>C" "" "" "" "MAP3K7(NM_145331.2):c.337T>G (p.Y113D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90561628A>C" "" "VUS" "" "0000282386" "0" "90" "6" "91228271" "91228271" "subst" "0" "02325" "MAP3K7_000006" "g.91228271G>A" "" "" "" "MAP3K7(NM_145331.3):c.1535C>T (p.P512L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90518552G>A" "" "pathogenic" "" "0000291471" "0" "50" "6" "91266240" "91266240" "subst" "0" "01943" "MAP3K7_000008" "g.91266240T>C" "" "" "" "MAP3K7(NM_145331.2):c.586A>G (p.M196V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90556521T>C" "" "VUS" "" "0000345647" "0" "70" "6" "91271355" "91271355" "subst" "0" "02327" "MAP3K7_000011" "g.91271355C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90561636C>T" "" "likely pathogenic" "" "0000346113" "0" "70" "6" "91281504" "91281504" "subst" "0" "02327" "MAP3K7_000012" "g.91281504C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90571785C>T" "" "likely pathogenic" "" "0000349980" "0" "50" "6" "91263297" "91263297" "subst" "0" "02327" "MAP3K7_000010" "g.91263297A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90553578A>C" "" "VUS" "" "0000408781" "0" "70" "6" "91228271" "91228271" "subst" "0" "00006" "MAP3K7_000006" "g.91228271G>A" "" "{PMID:Martinez 2017:27620904}, {DOI:Martinez 2017:10.1136/jmedgenet-2017-103964}" "" "" "" "De novo" "" "" "0" "" "" "g.90518552G>A" "" "likely pathogenic" "" "0000530008" "0" "70" "6" "91266237" "91266237" "subst" "0" "02327" "MAP3K7_000013" "g.91266237C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90556518C>T" "" "likely pathogenic" "" "0000530010" "0" "70" "6" "91278326" "91278326" "subst" "0" "02327" "MAP3K7_000015" "g.91278326C>T" "" "" "" "MAP3K7(NM_145331.3):c.248G>A (p.(Arg83His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90568607C>T" "" "likely pathogenic" "" "0000610558" "0" "50" "6" "91226237" "91226237" "subst" "4.49773E-5" "02325" "MAP3K7_000016" "g.91226237G>A" "" "" "" "MAP3K7(NM_145331.3):c.1804C>T (p.R602*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90516518G>A" "" "VUS" "" "0000610560" "0" "50" "6" "91257078" "91257078" "subst" "0" "02325" "MAP3K7_000017" "g.91257078G>T" "" "" "" "MAP3K7(NM_145331.3):c.1109C>A (p.A370D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90547359G>T" "" "VUS" "" "0000610561" "0" "50" "6" "91263182" "91263182" "subst" "0" "02327" "MAP3K7_000018" "g.91263182T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90553463T>C" "" "VUS" "" "0000721141" "0" "90" "6" "91228271" "91228271" "subst" "0" "02329" "MAP3K7_000006" "g.91228271G>A" "" "" "" "MAP3K7(NM_145331.3):c.1535C>T (p.P512L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000721142" "0" "50" "6" "91269829" "91269829" "subst" "0" "02329" "MAP3K7_000019" "g.91269829T>C" "" "" "" "MAP3K7(NM_145331.3):c.448A>G (p.K150E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851336" "0" "50" "6" "91266236" "91266236" "subst" "0" "01943" "MAP3K7_000021" "g.91266236G>A" "" "" "" "MAP3K7(NM_145331.2):c.590C>T (p.A197V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860540" "0" "30" "6" "91254280" "91254280" "subst" "0.000398883" "01943" "MAP3K7_000020" "g.91254280C>T" "" "" "" "MAP3K7(NM_145331.2):c.1282G>A (p.V428I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000869061" "0" "70" "6" "91266255" "91266255" "subst" "0" "00006" "MAP3K7_000022" "g.91266255C>T" "" "{PMID:Schuermans 2022:35606766}" "" "" "ACMG PM1, PM2, PP2, PP3, PS2, PS3" "De novo" "" "" "0" "" "" "g.90556536C>T" "" "likely pathogenic (recessive)" "" "0000887505" "0" "50" "6" "91296502" "91296502" "subst" "4.34265E-6" "02325" "MAP3K7_000023" "g.91296502T>G" "" "" "" "MAP3K7(NM_145331.3):c.101A>C (p.K34T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000922429" "0" "70" "6" "91266251" "91266251" "subst" "0" "01164" "MAP3K7_000024" "g.91266251C>T" "" "" "" "" "ACMG: PS2, PM5, PM2_SUP; confirmed de novo in trio-exom; p.(Ser192Gly) published as a de novo pathogenic variant (PMID:31713904)" "De novo" "-" "" "0" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000977400" "0" "30" "6" "91229032" "91229032" "subst" "0.000102137" "01804" "MAP3K7_000025" "g.91229032T>C" "" "" "" "MAP3K7(NM_145331.3):c.1469A>G (p.(Asn490Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977401" "0" "30" "6" "91269889" "91269889" "subst" "2.84308E-5" "01804" "MAP3K7_000026" "g.91269889C>T" "" "" "" "MAP3K7(NM_145331.3):c.388G>A (p.(Ala130Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996002" "0" "30" "6" "91226285" "91226285" "subst" "2.03771E-5" "01804" "MAP3K7_000027" "g.91226285G>C" "" "" "" "MAP3K7(NM_145331.2):c.1756C>G (p.(Gln586Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996003" "0" "30" "6" "91254351" "91254351" "subst" "2.4423E-5" "01804" "MAP3K7_000028" "g.91254351G>A" "" "" "" "MAP3K7(NM_145331.2):c.1211C>T (p.(Ala404Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996004" "0" "30" "6" "91256978" "91256978" "subst" "4.47766E-5" "01804" "MAP3K7_000029" "g.91256978T>C" "" "" "" "MAP3K7(NM_145331.2):c.1209A>G (p.(Thr403Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996005" "0" "50" "6" "91257087" "91257087" "subst" "1.6475E-5" "01804" "MAP3K7_000030" "g.91257087C>T" "" "" "" "MAP3K7(NM_145331.2):c.1100G>A (p.(Ser367Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996006" "0" "50" "6" "91261841" "91261841" "subst" "8.12367E-6" "01804" "MAP3K7_000031" "g.91261841C>T" "" "" "" "MAP3K7(NM_145331.2):c.794G>A (p.(Arg265His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996007" "0" "30" "6" "91263279" "91263279" "subst" "4.0844E-6" "01804" "MAP3K7_000032" "g.91263279C>T" "" "" "" "MAP3K7(NM_145331.2):c.634G>A (p.(Val212Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035972" "0" "50" "6" "91233493" "91233493" "subst" "0" "01804" "MAP3K7_000033" "g.91233493T>C" "" "" "" "MAP3K7(NM_145331.3):c.1366A>G (p.(Arg456Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035973" "0" "50" "6" "91256997" "91256997" "subst" "0" "01804" "MAP3K7_000034" "g.91256997G>A" "" "" "" "MAP3K7(NM_145331.3):c.1190C>T (p.(Ala397Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035974" "0" "50" "6" "91257022" "91257022" "subst" "1.24773E-5" "01804" "MAP3K7_000035" "g.91257022T>C" "" "" "" "MAP3K7(NM_145331.3):c.1165A>G (p.(Ser389Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035975" "0" "50" "6" "91261860" "91261860" "subst" "0.000190909" "01804" "MAP3K7_000036" "g.91261860T>C" "" "" "" "MAP3K7(NM_145331.3):c.775A>G (p.(Ile259Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035976" "0" "70" "6" "91269812" "91269812" "subst" "0" "02325" "MAP3K7_000037" "g.91269812C>G" "" "" "" "MAP3K7(NM_145331.3):c.465G>C (p.R155S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001035977" "0" "30" "6" "91271396" "91271396" "del" "0" "01804" "MAP3K7_000038" "g.91271396del" "" "" "" "MAP3K7(NM_145331.3):c.298-8del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035978" "0" "70" "6" "91278326" "91278326" "subst" "0" "01804" "MAP3K7_000015" "g.91278326C>T" "" "" "" "MAP3K7(NM_145331.3):c.248G>A (p.(Arg83His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" ## 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 MAP3K7 ## Count = 53 "{{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}}" "0000125871" "00011754" "90" "1535" "0" "1535" "0" "c.1535C>T" "r.(?)" "p.(Pro512Leu)" "" "0000125872" "00011754" "90" "1535" "0" "1535" "0" "c.1535C>T" "r.(?)" "p.(Pro512Leu)" "" "0000125873" "00011754" "90" "1535" "0" "1535" "0" "c.1535C>T" "r.(?)" "p.(Pro512Leu)" "" "0000125874" "00011754" "90" "1535" "0" "1535" "0" "c.1535C>T" "r.(?)" "p.(Pro512Leu)" "" "0000125875" "00011754" "90" "1535" "0" "1535" "0" "c.1535C>T" "r.(?)" "p.(Pro512Leu)" "" "0000125876" "00011754" "90" "1535" "0" "1535" "0" "c.1535C>T" "r.(?)" "p.(Pro512Leu)" "" "0000125877" "00011754" "90" "1535" "0" "1535" "0" "c.1535C>T" "r.(?)" "p.(Pro512Leu)" "" "0000125878" "00011754" "90" "1535" "0" "1535" "0" "c.1535C>T" "r.(?)" "p.(Pro512Leu)" "" "0000125879" "00011754" "70" "502" "0" "502" "0" "c.502G>C" "r.(?)" "p.(Gly168Arg)" "" "0000125880" "00011754" "90" "1535" "0" "1535" "0" "c.1535C>T" "r.(?)" "p.(Pro512Leu)" "" "0000125881" "00011754" "90" "1535" "0" "1535" "0" "c.1535C>T" "r.(?)" "p.(Pro512Leu)" "" "0000125882" "00011754" "90" "1535" "0" "1535" "0" "c.1535C>T" "r.(?)" "p.(Pro512Leu)" "" "0000125883" "00011754" "90" "1535" "0" "1535" "0" "c.1535C>T" "r.(?)" "p.(Pro512Leu)" "" "0000125884" "00011754" "90" "1535" "0" "1535" "0" "c.1535C>T" "r.(?)" "p.(Pro512Leu)" "" "0000125885" "00011754" "90" "1535" "0" "1535" "0" "c.1535C>T" "r.(?)" "p.(Pro512Leu)" "" "0000125886" "00011754" "90" "1535" "0" "1535" "0" "c.1535C>T" "r.(?)" "p.(Pro512Leu)" "" "0000125888" "00011754" "70" "208" "0" "208" "0" "c.208G>C" "r.(?)" "p.(Glu70Gln)" "" "0000125889" "00011754" "70" "299" "0" "299" "0" "c.299T>A" "r.(?)" "p.(Val100Glu)" "" "0000222104" "00011754" "90" "737" "-7" "737" "-7" "c.737-7A>G" "r.736_737insuuguag" "p.Asn245_Gly246insValVal" "7i" "0000256638" "00011754" "50" "337" "0" "337" "0" "c.337T>G" "r.(?)" "p.(Tyr113Asp)" "" "0000282386" "00011754" "90" "1535" "0" "1535" "0" "c.1535C>T" "r.(?)" "p.(Pro512Leu)" "" "0000291471" "00011754" "50" "586" "0" "586" "0" "c.586A>G" "r.(?)" "p.(Met196Val)" "" "0000345647" "00011754" "70" "329" "0" "329" "0" "c.329G>A" "r.(?)" "p.(Gly110Asp)" "" "0000346113" "00011754" "70" "143" "0" "143" "0" "c.143G>A" "r.(?)" "p.(Gly48Glu)" "" "0000349980" "00011754" "50" "616" "0" "616" "0" "c.616T>G" "r.(?)" "p.(Tyr206Asp)" "" "0000408781" "00011754" "70" "1535" "0" "1535" "0" "c.1535C>T" "r.(?)" "p.(Pro512Leu)" "16" "0000530008" "00011754" "70" "589" "0" "589" "0" "c.589G>A" "r.(?)" "p.(Ala197Thr)" "" "0000530010" "00011754" "70" "248" "0" "248" "0" "c.248G>A" "r.(?)" "p.(Arg83His)" "" "0000610558" "00011754" "50" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Ter)" "" "0000610560" "00011754" "50" "1109" "0" "1109" "0" "c.1109C>A" "r.(?)" "p.(Ala370Asp)" "" "0000610561" "00011754" "50" "731" "0" "731" "0" "c.731A>G" "r.(?)" "p.(His244Arg)" "" "0000721141" "00011754" "90" "1535" "0" "1535" "0" "c.1535C>T" "r.(?)" "p.(Pro512Leu)" "" "0000721142" "00011754" "50" "448" "0" "448" "0" "c.448A>G" "r.(?)" "p.(Lys150Glu)" "" "0000851336" "00011754" "50" "590" "0" "590" "0" "c.590C>T" "r.(?)" "p.(Ala197Val)" "" "0000860540" "00011754" "30" "1282" "0" "1282" "0" "c.1282G>A" "r.(?)" "p.(Val428Ile)" "" "0000869061" "00011754" "70" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Gly191Arg)" "" "0000887505" "00011754" "50" "101" "0" "101" "0" "c.101A>C" "r.(?)" "p.(Lys34Thr)" "" "0000922429" "00011754" "70" "575" "0" "575" "0" "c.575G>A" "r.(?)" "p.(Ser192Asn)" "" "0000977400" "00011754" "30" "1469" "0" "1469" "0" "c.1469A>G" "r.(?)" "p.(Asn490Ser)" "" "0000977401" "00011754" "30" "388" "0" "388" "0" "c.388G>A" "r.(?)" "p.(Ala130Thr)" "" "0000996002" "00011754" "30" "1756" "0" "1756" "0" "c.1756C>G" "r.(?)" "p.(Gln586Glu)" "" "0000996003" "00011754" "30" "1211" "0" "1211" "0" "c.1211C>T" "r.(?)" "p.(Ala404Val)" "" "0000996004" "00011754" "30" "1209" "0" "1209" "0" "c.1209A>G" "r.(?)" "p.(=)" "" "0000996005" "00011754" "50" "1100" "0" "1100" "0" "c.1100G>A" "r.(?)" "p.(Ser367Asn)" "" "0000996006" "00011754" "50" "794" "0" "794" "0" "c.794G>A" "r.(?)" "p.(Arg265His)" "" "0000996007" "00011754" "30" "634" "0" "634" "0" "c.634G>A" "r.(?)" "p.(Val212Ile)" "" "0001035972" "00011754" "50" "1366" "0" "1366" "0" "c.1366A>G" "r.(?)" "p.(Arg456Gly)" "" "0001035973" "00011754" "50" "1190" "0" "1190" "0" "c.1190C>T" "r.(?)" "p.(Ala397Val)" "" "0001035974" "00011754" "50" "1165" "0" "1165" "0" "c.1165A>G" "r.(?)" "p.(Ser389Gly)" "" "0001035975" "00011754" "50" "775" "0" "775" "0" "c.775A>G" "r.(?)" "p.(Ile259Val)" "" "0001035976" "00011754" "70" "465" "0" "465" "0" "c.465G>C" "r.(?)" "p.(Arg155Ser)" "" "0001035977" "00011754" "30" "298" "-8" "298" "-8" "c.298-8del" "r.(=)" "p.(=)" "" "0001035978" "00011754" "70" "248" "0" "248" "0" "c.248G>A" "r.(?)" "p.(Arg83His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 22 "{{screeningid}}" "{{variantid}}" "0000078766" "0000125871" "0000078767" "0000125872" "0000078768" "0000125873" "0000078769" "0000125874" "0000078770" "0000125875" "0000078771" "0000125876" "0000078772" "0000125877" "0000078773" "0000125878" "0000078774" "0000125879" "0000078775" "0000125880" "0000078776" "0000125881" "0000078777" "0000125882" "0000078778" "0000125883" "0000078779" "0000125884" "0000078780" "0000125885" "0000078781" "0000125886" "0000078880" "0000125888" "0000078881" "0000125889" "0000132917" "0000222104" "0000184657" "0000408781" "0000411824" "0000869061" "0000436095" "0000922429"