### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MEGF10) # 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}}" "MEGF10" "multiple EGF-like-domains 10" "5" "q33" "unknown" "NC_000005.9" "UD_132610389642" "" "https://www.LOVD.nl/MEGF10" "" "1" "29634" "84466" "612453" "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" "2026-04-10 22:30:16" "00006" "2026-04-12 13:43:23" ## 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}}" "00026076" "MEGF10" "transcript variant 2 (expired, new version available) (expired, new version available)" "003" "NM_001256545.2" "" "NP_001243474.1" "" "" "MANE select" "-311" "7327" "3423" "126626456" "126796914" "00006" "2026-04-10 22:33:44" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "00259" "obesity" "obesity, susceptibility to (incl. leanness)" "AD;AR;Mu" "601665" "" "" "" "00006" "2013-10-28 15:05:17" "00006" "2022-01-13 16:46:00" "03629" "CMYO10A;EMARDD" "myopathy, congenital, type 10A, severe variant" "AR" "614399" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2026-04-10 22:31:45" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" "" "05618" "NMD" "neuromuscular disorder (NMD)" "" "" "" "" "" "00006" "2019-07-02 19:46:12" "" "" "07210" "scoliosis" "scoliosis" "" "" "" "" "" "00006" "2025-12-05 11:13:58" "" "" "07258" "CMYO10B" "myopathy, congenital, type 10B, mild variant" "AR" "620249" "" "" "" "00006" "2026-04-10 22:29:38" "00006" "2026-04-10 22:32:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "MEGF10" "03629" "MEGF10" "07258" ## Individuals ## Do not remove or alter this header ## ## Count = 16 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00155229" "" "" "" "1" "" "00006" "{PMID:Saeed 2018:29311637}" "3-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "29311637-Fam3" "00293711" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293712" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293713" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293714" "" "" "" "141" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305005" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00361993" "" "" "" "1" "" "04047" "{PMID:Saat 2021:33963534}" "" "M" "yes" "Turkey" "" "0" "" "" "" "Pat14" "00408085" "" "" "" "1" "" "00000" "{PMID:Alabdullatif 2017:27717089}" "" "F" "yes" "United Arab Emirates" "" "0" "" "" "" "14" "00442674" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "F" "" "" "" "0" "" "" "" "Pat46" "00442709" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "M" "" "" "" "0" "" "" "" "Pat81" "00470702" "" "" "" "1" "" "00006" "{PMID:Horbacz 2025:41210864}" "patient, affected" "F" "" "Poland" "" "0" "" "" "" "Pat63" "00472198" "" "" "" "1" "" "04653" "Verebi et al. (submitted)" "" "M" "" "France" "" "0" "" "" "" "" "00472210" "" "" "" "1" "" "04653" "Verebi et al. (submitted)" "" "M" "" "France" "" "0" "" "" "" "" "00473430" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam210138Pat738" "00473627" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam9500844Pat1035" "00475880" "" "" "" "2" "" "00006" "{PMID:Harris 2017:28877744}" "family, 2 affected sibs" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat36" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 16 "{{individualid}}" "{{diseaseid}}" "00155229" "00259" "00293711" "00198" "00293712" "00198" "00293713" "00198" "00293714" "00198" "00305005" "00198" "00361993" "00244" "00408085" "04214" "00442674" "05618" "00442709" "05618" "00470702" "07210" "00472198" "03629" "00472210" "03629" "00473430" "00244" "00473627" "00244" "00475880" "05126" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00244, 00259, 03629, 04214, 05126, 05618, 07210, 07258 ## Count = 11 "{{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}}" "0000127757" "00259" "00155229" "00006" "Familial, autosomal recessive" "" "severe, early-onset obesity" "" "" "" "" "" "" "" "" "" "obesity" "" "0000257386" "00244" "00361993" "04047" "Familial, autosomal recessive" "" "Hypotonia HP:0001252" "" "" "" "" "" "" "" "" "" "" "" "0000300213" "04214" "00408085" "00000" "Familial, autosomal recessive" "1y8m" "20 months old female child born at term with prenatal course complicated by polyhydramnios. At birth she was found to have hypotonia, respiratory distress, feeding difficulty, and distal arthrogryposis (camptodactyly and overlapping toes). Respiratory distress progressed and she required invasive ventilation at the age of 4 months, then tracheostomy was placed at the age of 5 months and she had been dependent on ventilator since then. Gastrostomy tube was placed at that age as well. She also had developmental delay and echocardiogram showed patent ductus arteriosus and patent foramen ovale. Her physical examination showed weakness, hypotonia, areflexia, camptodactyly, overlapping toes, normal growth parameters, and distinctive facial features (dolichocephalic, broad nasal bridge, high arched palate, long smooth philtrum, and retrognathia). Electromyogram and nerve conduction studies were consistent with a myopathy. Her parents were second cousin and she had 3 older siblings." "" "" "" "" "" "" "" "" "Myopathy, areflexia, respiratory distress, and dysphagia, early- onset (EMARDD)" "" "" "0000332021" "05618" "00442674" "00006" "Familial, autosomal recessive" "7m" "deceased; severe hypotonia (most pronounces axial and proximal) with minimal facial expression and respiratory failure; muscle biopsy: increase in fiber size variation and presence of internal nuclei; EMG: myopathic changes with myotonic discharges; CK = 64 U/l" "1m" "" "" "" "" "" "" "" "" "Myopathy with respiratory symptoms" "" "0000332056" "05618" "00442709" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000355596" "07210" "00470702" "00006" "Isolated (sporadic)" "12y" "see paper; ... scoliosis, no other skeletal defects; no symptoms; no physical activity" "" "" "" "" "" "" "" "" "" "severe adolescent idiopathic scoliosis" "" "0000357007" "03629" "00472198" "04653" "Isolated (sporadic)" "" "Generalized amyotrophy * Long face * Hypomimic face * Ptosis Abnormality of the voice * Scoliosis * Spinal rigidity * Equinus calcaneus * Velopharyngeal insufficiency * Gastroesophageal reflux * Motor delay * Abnormality of the musculature of the neck * Neonatal hypotonia" "" "" "" "" "" "" "" "" "Congenital myopathy" "Congenital myopathy" "" "0000357019" "03629" "00472210" "04653" "Isolated (sporadic)" "" "Distal muscle weakness * Myopathy * Musculotendinous retraction" "" "" "" "" "" "" "" "" "Congenital myopathy" "Myopathy with joint contractures" "" "0000358225" "00244" "00473430" "00006" "Unknown" "30y" "age 30y , proximal lower muscle weakness started 2y, positive Gowers sign, calf pseudohypertrophy, exertional dyspnea, elevated CPK, generalized irritable myopathy, chronic dystrophic process and increased internalized nuclei reported in muscle biopsy, FEV1, 78% reported in respirometery" "" "" "" "" "" "" "" "" "" "myopathy" "" "0000358422" "00244" "00473627" "00006" "Unknown" "18y" "Delayed walking; Poor head control; Myopathy, moderate, non-progressive; Unable to neck flexion; Unable to dorsiflexion of foot; Fatty replacement in MSCT scan" "" "" "" "" "" "" "" "" "" "congenital myopathy" "" "0000360554" "05126" "00475880" "00006" "Familial, autosomal recessive" "" "not specified" "" "" "" "" "" "" "" "" "" "limb-girdle muscular dystrophy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 16 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000156093" "00155229" "1" "00006" "00006" "2018-03-18 13:11:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000294879" "00293711" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294880" "00293712" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294881" "00293713" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294882" "00293714" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306134" "00305005" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000363221" "00361993" "1" "04047" "04047" "2021-04-13 11:58:06" "" "" "SEQ-NG" "DNA" "" "" "0000409340" "00408085" "1" "00000" "03840" "2022-04-13 19:19:00" "" "" "arraySNP;SEQ" "DNA" "" "" "0000444158" "00442674" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444193" "00442709" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000472369" "00470702" "1" "00006" "00006" "2025-12-05 11:16:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473868" "00472198" "1" "04653" "04653" "2026-01-15 15:08:36" "" "" "SEQ-NG-I" "DNA" "" "WGS" "0000473880" "00472210" "1" "04653" "04653" "2026-01-16 12:16:03" "" "" "SEQ-NG-I" "DNA" "" "WGS" "0000475099" "00473430" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475296" "00473627" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ" "DNA" "" "" "0000477524" "00475880" "1" "00006" "00006" "2026-04-12 13:43:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000409340" "MEGF10" ## 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 = 57 "{{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}}" "0000256341" "0" "50" "5" "126676262" "126676262" "subst" "0.000410512" "01943" "MEGF10_000002" "g.126676262A>G" "" "" "" "MEGF10(NM_032446.2):c.259A>G (p.M87V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127340570A>G" "" "VUS" "" "0000282470" "0" "10" "5" "126792974" "126792974" "subst" "0.530123" "02325" "MEGF10_000006" "g.126792974T>A" "" "" "" "MEGF10(NM_032446.3):c.3387T>A (p.G1129=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127457282T>A" "" "benign" "" "0000286504" "0" "10" "5" "126667126" "126667126" "subst" "0.0330375" "02326" "MEGF10_000001" "g.126667126T>C" "" "" "" "MEGF10(NM_001256545.2):c.116+10T>C, MEGF10(NM_032446.3):c.116+10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127331434T>C" "" "benign" "" "0000286505" "0" "30" "5" "126755873" "126755873" "subst" "0.00223932" "02326" "MEGF10_000004" "g.126755873G>A" "" "" "" "MEGF10(NM_032446.2):c.1564G>A (p.G522R), MEGF10(NM_032446.3):c.1564G>A (p.G522R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127420181G>A" "" "likely benign" "" "0000291726" "0" "30" "5" "126791085" "126791085" "subst" "0.00156303" "01943" "MEGF10_000005" "g.126791085C>T" "" "" "" "MEGF10(NM_001256545.1):c.3026-8C>T (p.(=)), MEGF10(NM_032446.2):c.3026-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127455393C>T" "" "likely benign" "" "0000339353" "0" "10" "5" "126746277" "126746277" "subst" "0.944257" "02327" "MEGF10_000009" "g.126746277C>T" "" "" "" "MEGF10(NM_032446.3):c.1114C>T (p.L372=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127410585C>T" "" "benign" "" "0000339354" "0" "10" "5" "126792974" "126792974" "subst" "0.530123" "02327" "MEGF10_000006" "g.126792974T>A" "" "" "" "MEGF10(NM_032446.3):c.3387T>A (p.G1129=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127457282T>A" "" "benign" "" "0000350871" "0" "90" "5" "126676323" "126676323" "subst" "0" "02327" "MEGF10_000008" "g.126676323G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127340631G>A" "" "pathogenic" "" "0000357983" "3" "70" "5" "126776527" "126776527" "subst" "8.93735E-5" "00006" "MEGF10_000012" "g.126776527G>A" "" "{PMID:Saeed 2018:29311637}" "" "" "" "Germline" "" "" "0" "" "" "g.127440835G>A" "" "likely pathogenic" "" "0000523973" "0" "10" "5" "126746277" "126746277" "subst" "0.944257" "02325" "MEGF10_000009" "g.126746277C>T" "" "" "" "MEGF10(NM_032446.3):c.1114C>T (p.L372=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127410585C>T" "" "benign" "" "0000523974" "0" "50" "5" "126769144" "126769144" "subst" "8.13478E-6" "01804" "MEGF10_000015" "g.126769144C>G" "" "" "" "MEGF10(NM_001256545.1):c.1783C>G (p.(Pro595Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127433452C>G" "" "VUS" "" "0000523975" "0" "50" "5" "126791300" "126791300" "subst" "0" "01804" "MEGF10_000016" "g.126791300G>A" "" "" "" "MEGF10(NM_001256545.1):c.3232+1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127455608G>A" "" "VUS" "" "0000609418" "0" "50" "5" "126781368" "126781368" "subst" "0" "01943" "MEGF10_000017" "g.126781368C>A" "" "" "" "MEGF10(NM_032446.2):c.2711C>A (p.A904E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127445676C>A" "" "VUS" "" "0000609419" "0" "30" "5" "126783249" "126783249" "subst" "0" "01804" "MEGF10_000018" "g.126783249G>C" "" "" "" "MEGF10(NM_001256545.1):c.2729G>C (p.(Gly910Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127447557G>C" "" "likely benign" "" "0000651568" "1" "90" "5" "126674906" "126674906" "subst" "2.45056E-5" "03575" "MEGF10_000019" "g.126674906C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs387907074}" "Germline" "" "rs387907074" "0" "" "" "g.127339214C>T" "" "pathogenic" "" "0000651569" "1" "50" "5" "126676262" "126676262" "subst" "0.000410512" "03575" "MEGF10_000002" "g.126676262A>G" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs41298304}" "Germline" "" "rs41298304" "0" "" "" "g.127340570A>G" "" "VUS" "" "0000651570" "1" "50" "5" "126732323" "126732323" "subst" "6.121E-5" "03575" "MEGF10_000020" "g.126732323C>T" "1/2790 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs201824269}" "Germline" "" "rs201824269" "0" "" "" "g.127396631C>T" "" "VUS" "" "0000651571" "1" "10" "5" "126770359" "126770359" "subst" "0.0176413" "03575" "MEGF10_000021" "g.126770359G>A" "141/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "141 heterozygous; {DB:CLININrs79904777}" "Germline" "" "rs79904777" "0" "" "" "g.127434667G>A" "" "benign" "" "0000669822" "3" "10" "5" "126770359" "126770359" "subst" "0.0176413" "03575" "MEGF10_000021" "g.126770359G>A" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 homozygous; {DB:CLININrs79904777}" "Germline" "" "rs79904777" "0" "" "" "g.127434667G>A" "" "benign" "" "0000677365" "0" "30" "5" "126755873" "126755873" "subst" "0.00223932" "01943" "MEGF10_000004" "g.126755873G>A" "" "" "" "MEGF10(NM_032446.2):c.1564G>A (p.G522R), MEGF10(NM_032446.3):c.1564G>A (p.G522R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127420181G>A" "" "likely benign" "" "0000677366" "0" "30" "5" "126781157" "126781157" "subst" "4.06355E-6" "01943" "MEGF10_000022" "g.126781157A>T" "" "" "" "MEGF10(NM_032446.2):c.2500A>T (p.I834F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127445465A>T" "" "likely benign" "" "0000689405" "0" "30" "5" "126758373" "126758373" "subst" "0.00119161" "02326" "MEGF10_000023" "g.126758373C>T" "" "" "" "MEGF10(NM_032446.3):c.1602C>T (p.Y534=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127422681C>T" "" "likely benign" "" "0000720118" "0" "50" "5" "126734483" "126734483" "subst" "3.25224E-5" "01804" "MEGF10_000024" "g.126734483T>A" "" "" "" "MEGF10(NM_001256545.1):c.775T>A (p.(Trp259Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127398791T>A" "" "VUS" "" "0000763691" "3" "50" "5" "126674883" "126674883" "subst" "0" "04047" "MEGF10_000025" "g.126674883T>C" "" "{PMID:Saat 2021:33963534}" "" "g.48361T>C" "" "Germline" "" "" "0" "" "" "g.127339191T>C" "" "VUS" "" "0000801836" "0" "50" "5" "126732353" "126732353" "subst" "3.65901E-5" "02325" "MEGF10_000026" "g.126732353G>A" "" "" "" "MEGF10(NM_032446.3):c.542G>A (p.R181H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127396661G>A" "" "VUS" "" "0000801837" "0" "90" "5" "126755868" "126755868" "subst" "0" "02325" "MEGF10_000027" "g.126755868G>A" "" "" "" "MEGF10(NM_032446.3):c.1559G>A (p.W520*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127420176G>A" "" "pathogenic" "" "0000846494" "3" "70" "5" "126755866" "126755866" "del" "0" "00000" "MEGF10_000028" "g.126755866del" "" "{PMID:Alabdullatif 2017:27717089}" "" "MEGF10 c.1557delA, (p.Trp520fs)" "homozygous" "Germline" "yes" "" "0" "" "" "g.127420174del" "" "likely pathogenic" "" "0000859719" "0" "50" "5" "126776504" "126776504" "del" "0" "01943" "MEGF10_000029" "g.126776504del" "" "" "" "MEGF10(NM_032446.2):c.2307delC (p.H769Qfs*37)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127440812del" "" "VUS" "" "0000859720" "0" "30" "5" "126791085" "126791085" "subst" "0.00156303" "01804" "MEGF10_000005" "g.126791085C>T" "" "" "" "MEGF10(NM_001256545.1):c.3026-8C>T (p.(=)), MEGF10(NM_032446.2):c.3026-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127455393C>T" "" "likely benign" "" "0000886556" "0" "50" "5" "126738278" "126738278" "subst" "0" "01804" "MEGF10_000030" "g.126738278G>C" "" "" "" "MEGF10(NM_001256545.1):c.821G>C (p.(Gly274Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127402586G>C" "" "VUS" "" "0000946015" "1" "90" "5" "126676244" "126676244" "subst" "4.06676E-6" "00006" "MEGF10_000007" "g.126676244C>T" "" "{PMID:Westra 2019:31127727}" "" "" "" "Germline" "" "" "0" "" "" "g.127340552C>T" "" "pathogenic (recessive)" "" "0000946050" "0" "50" "5" "126769127" "126769127" "del" "0" "00006" "MEGF10_000010" "g.126769127del" "" "{PMID:Westra 2019:31127727}" "" "" "no variant 2nd chromosome after targeted sequencing; no segregation analysis" "Germline/De novo (untested)" "" "" "0" "" "" "g.127433435del" "" "VUS" "" "0000946163" "2" "90" "5" "126778739" "126778742" "del" "0" "00006" "MEGF10_000011" "g.126778739_126778742del" "" "{PMID:Westra 2019:31127727}" "" "" "" "Germline" "" "" "0" "" "" "g.127443047_127443050del" "" "pathogenic (recessive)" "" "0000963390" "0" "50" "5" "126667119" "126667119" "subst" "0" "01804" "MEGF10_000031" "g.126667119A>G" "" "" "" "MEGF10(NM_001256545.1):c.116+3A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127331427A>G" "" "VUS" "" "0000976494" "0" "50" "5" "126753365" "126753365" "subst" "8.12288E-6" "01804" "MEGF10_000032" "g.126753365C>T" "" "" "" "MEGF10(NM_001256545.2):c.1166C>T (p.(Pro389Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127417673C>T" "" "VUS" "" "0000976495" "0" "50" "5" "126758383" "126758383" "subst" "0" "01804" "MEGF10_000033" "g.126758383T>C" "" "" "" "MEGF10(NM_001256545.2):c.1612T>C (p.(Cys538Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127422691T>C" "" "VUS" "" "0000994589" "0" "30" "5" "126770452" "126770452" "subst" "0" "02326" "MEGF10_000034" "g.126770452C>T" "" "" "" "MEGF10(NM_032446.3):c.1914C>T (p.C638=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127434760C>T" "" "likely benign" "" "0001034836" "0" "10" "5" "126667126" "126667126" "subst" "0.0330375" "01804" "MEGF10_000001" "g.126667126T>C" "" "" "" "MEGF10(NM_001256545.2):c.116+10T>C, MEGF10(NM_032446.3):c.116+10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127331434T>C" "" "benign" "" "0001034837" "0" "10" "5" "126674869" "126674869" "subst" "0.0298004" "01804" "MEGF10_000035" "g.126674869G>A" "" "" "" "MEGF10(NM_001256545.2):c.174G>A (p.(Thr58=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127339177G>A" "" "benign" "" "0001034838" "0" "50" "5" "126746145" "126746145" "subst" "0" "01804" "MEGF10_000036" "g.126746145A>C" "" "" "" "MEGF10(NM_001256545.2):c.982A>C (p.(Asn328His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127410453A>C" "" "VUS" "" "0001034839" "0" "50" "5" "126758455" "126758455" "subst" "1.64407E-5" "01804" "MEGF10_000037" "g.126758455G>A" "" "" "" "MEGF10(NM_001256545.2):c.1684G>A (p.(Gly562Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127422763G>A" "" "VUS" "" "0001034840" "0" "30" "5" "126770374" "126770374" "subst" "0.000244568" "01804" "MEGF10_000038" "g.126770374T>C" "" "" "" "MEGF10(NM_001256545.2):c.1841-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127434682T>C" "" "likely benign" "" "0001034841" "0" "10" "5" "126774225" "126774225" "subst" "0.0258902" "01804" "MEGF10_000039" "g.126774225C>T" "" "" "" "MEGF10(NM_001256545.2):c.2199C>T (p.(Cys733=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127438533C>T" "" "benign" "" "0001034842" "0" "10" "5" "126791229" "126791229" "subst" "0.0274502" "01804" "MEGF10_000040" "g.126791229G>A" "" "" "" "MEGF10(NM_001256545.2):c.3162G>A (p.(Pro1054=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127455537G>A" "" "benign" "" "0001034843" "0" "10" "5" "126791256" "126791256" "subst" "0.0265986" "01804" "MEGF10_000041" "g.126791256G>A" "" "" "" "MEGF10(NM_001256545.2):c.3189G>A (p.(Glu1063=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127455564G>A" "" "benign" "" "0001052074" "0" "50" "5" "126758444" "126758444" "subst" "2.45775E-5" "01804" "MEGF10_000042" "g.126758444G>A" "" "" "" "MEGF10(NM_001256545.2):c.1673G>A (p.(Arg558His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127422752G>A" "" "VUS" "" "0001052075" "0" "50" "5" "126778804" "126778804" "subst" "4.48138E-5" "01804" "MEGF10_000043" "g.126778804C>T" "" "" "" "MEGF10(NM_001256545.2):c.2477C>T (p.(Ala826Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127443112C>T" "" "VUS" "" "0001060736" "0" "50" "5" "126755873" "126755873" "subst" "0.00223932" "00006" "MEGF10_000004" "g.126755873G>A" "" "{PMID:Horbacz 2025:41210864}" "" "NM_001256545.2:c.1564G>A" "ACMG PM1, PM2, PP3; not in 142 controls" "Germline/De novo (untested)" "" "" "0" "" "" "g.127420181G>A" "" "VUS" "ACMG" "0001062803" "21" "70" "5" "126676233" "126676233" "subst" "0" "04653" "MEGF10_000044" "g.126676233G>C" "" "Verebi et al. (submitted)" "" "" "" "Germline" "" "" "0" "" "" "g.127340541G>C" "" "likely pathogenic" "ACMG" "0001062804" "11" "70" "5" "126783271" "126783272" "del" "0" "04653" "MEGF10_000046" "g.126783271_126783272del" "" "Verebi et al. (submitted)" "" "" "" "Germline" "" "" "0" "" "" "g.127447579_127447580del" "" "likely pathogenic" "ACMG" "0001062824" "21" "50" "5" "126755744" "126755744" "subst" "4.885E-5" "04653" "MEGF10_000045" "g.126755744G>A" "" "Verebi et al. (submitted)" "" "" "" "Germline" "" "" "0" "" "" "g.127420052G>A" "" "VUS" "ACMG" "0001062825" "11" "50" "5" "126784783" "126784783" "subst" "0.0012406" "04653" "MEGF10_000047" "g.126784783T>G" "" "Verebi et al. (submitted)" "" "" "" "Germline" "" "" "0" "" "" "g.127449091T>G" "" "VUS" "ACMG" "0001064397" "0" "50" "5" "126774253" "126774253" "subst" "4.10304E-6" "01804" "MEGF10_000048" "g.126774253A>G" "" "" "" "MEGF10(NM_001256545.2):c.2227A>G (p.(Thr743Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127438561A>G" "" "VUS" "" "0001069495" "3" "50" "5" "126758410" "126758410" "subst" "8.16073E-6" "00006" "MEGF10_000050" "g.126758410G>A" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.127422718G>A" "SCV006075045" "VUS" "ACMG" "0001069692" "3" "50" "5" "126753386" "126753386" "subst" "0" "00006" "MEGF10_000049" "g.126753386G>C" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM2, PM3_sup, PP3" "Germline" "" "" "0" "" "" "g.127417694G>C" "SCV006075044" "VUS" "ACMG" "0001072892" "1" "90" "5" "126705634" "126705634" "subst" "0" "00006" "MEGF10_000051" "g.126705634T>C" "" "{PMID:Harris 2017:28877744}" "" "" "" "Germline" "" "" "0" "" "" "g.127369942T>C" "" "pathogenic (recessive)" "" "0001072909" "2" "90" "5" "126754933" "126754933" "subst" "0" "00006" "MEGF10_000052" "g.126754933G>T" "" "{PMID:Harris 2017:28877744}" "" "" "" "Germline" "" "" "0" "" "" "g.127419241G>T" "" "pathogenic (recessive)" "" ## 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 MEGF10 ## Count = 57 "{{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}}" "0000256341" "00026076" "50" "259" "0" "259" "0" "c.259A>G" "r.(?)" "p.(Met87Val)" "" "0000282470" "00026076" "10" "3387" "0" "3387" "0" "c.3387T>A" "r.(?)" "p.(Gly1129=)" "" "0000286504" "00026076" "10" "116" "10" "116" "10" "c.116+10T>C" "r.(?)" "p.(=)" "" "0000286505" "00026076" "30" "1564" "0" "1564" "0" "c.1564G>A" "r.(?)" "p.(Gly522Arg)" "" "0000291726" "00026076" "30" "3026" "-8" "3026" "-8" "c.3026-8C>T" "r.(?)" "p.(=)" "" "0000339353" "00026076" "10" "1114" "0" "1114" "0" "c.1114C>T" "r.(?)" "p.(Leu372=)" "" "0000339354" "00026076" "10" "3387" "0" "3387" "0" "c.3387T>A" "r.(?)" "p.(Gly1129=)" "" "0000350871" "00026076" "90" "319" "1" "319" "1" "c.319+1G>A" "r.spl" "p.?" "" "0000357983" "00026076" "70" "2330" "0" "2330" "0" "c.2330G>A" "r.(?)" "p.(Arg777His)" "" "0000523973" "00026076" "10" "1114" "0" "1114" "0" "c.1114C>T" "r.(?)" "p.(Leu372=)" "" "0000523974" "00026076" "50" "1783" "0" "1783" "0" "c.1783C>G" "r.(?)" "p.(Pro595Ala)" "" "0000523975" "00026076" "50" "3232" "1" "3232" "1" "c.3232+1G>A" "r.spl" "p.?" "" "0000609418" "00026076" "50" "2711" "0" "2711" "0" "c.2711C>A" "r.(?)" "p.(Ala904Glu)" "" "0000609419" "00026076" "30" "2729" "0" "2729" "0" "c.2729G>C" "r.(?)" "p.(Gly910Ala)" "" "0000651568" "00026076" "90" "211" "0" "211" "0" "c.211C>T" "r.(?)" "p.(Arg71Trp)" "" "0000651569" "00026076" "50" "259" "0" "259" "0" "c.259A>G" "r.(?)" "p.(Met87Val)" "" "0000651570" "00026076" "50" "512" "0" "512" "0" "c.512C>T" "r.(?)" "p.(Ala171Val)" "" "0000651571" "00026076" "10" "1841" "-20" "1841" "-20" "c.1841-20G>A" "r.(?)" "p.(=)" "" "0000669822" "00026076" "10" "1841" "-20" "1841" "-20" "c.1841-20G>A" "r.(?)" "p.(=)" "" "0000677365" "00026076" "30" "1564" "0" "1564" "0" "c.1564G>A" "r.(?)" "p.(Gly522Arg)" "" "0000677366" "00026076" "30" "2500" "0" "2500" "0" "c.2500A>T" "r.(?)" "p.(Ile834Phe)" "" "0000689405" "00026076" "30" "1602" "0" "1602" "0" "c.1602C>T" "r.(?)" "p.(Tyr534=)" "" "0000720118" "00026076" "50" "775" "0" "775" "0" "c.775T>A" "r.(?)" "p.(Trp259Arg)" "" "0000763691" "00026076" "50" "188" "0" "188" "0" "c.188T>C" "r.(?)" "p.(Ile63Thr)" "" "0000801836" "00026076" "50" "542" "0" "542" "0" "c.542G>A" "r.(?)" "p.(Arg181His)" "" "0000801837" "00026076" "90" "1559" "0" "1559" "0" "c.1559G>A" "r.(?)" "p.(Trp520Ter)" "" "0000846494" "00026076" "70" "1557" "0" "1557" "0" "c.1557delA" "r.(?)" "p.(Trp520GlyfsTer17)" "" "0000859719" "00026076" "50" "2307" "0" "2307" "0" "c.2307del" "r.(?)" "p.(His769GlnfsTer37)" "" "0000859720" "00026076" "30" "3026" "-8" "3026" "-8" "c.3026-8C>T" "r.(=)" "p.(=)" "" "0000886556" "00026076" "50" "821" "0" "821" "0" "c.821G>C" "r.(?)" "p.(Gly274Ala)" "" "0000946015" "00026076" "90" "241" "0" "241" "0" "c.241C>T" "r.(?)" "p.(Arg81Ter)" "" "0000946050" "00026076" "50" "1766" "0" "1766" "0" "c.1766del" "r.(?)" "p.(Asn589MetfsTer160)" "" "0000946163" "00026076" "90" "2412" "0" "2415" "0" "c.2412_2415del" "r.(?)" "p.(Cys804Ter)" "" "0000963390" "00026076" "50" "116" "3" "116" "3" "c.116+3A>G" "r.spl?" "p.?" "" "0000976494" "00026076" "50" "1166" "0" "1166" "0" "c.1166C>T" "r.(?)" "p.(Pro389Leu)" "" "0000976495" "00026076" "50" "1612" "0" "1612" "0" "c.1612T>C" "r.(?)" "p.(Cys538Arg)" "" "0000994589" "00026076" "30" "1914" "0" "1914" "0" "c.1914C>T" "r.(?)" "p.(Cys638=)" "" "0001034836" "00026076" "10" "116" "10" "116" "10" "c.116+10T>C" "r.(?)" "p.(=)" "" "0001034837" "00026076" "10" "174" "0" "174" "0" "c.174G>A" "r.(?)" "p.(Thr58=)" "" "0001034838" "00026076" "50" "982" "0" "982" "0" "c.982A>C" "r.(?)" "p.(Asn328His)" "" "0001034839" "00026076" "50" "1684" "0" "1684" "0" "c.1684G>A" "r.(?)" "p.(Gly562Arg)" "" "0001034840" "00026076" "30" "1841" "-5" "1841" "-5" "c.1841-5T>C" "r.spl?" "p.(=)" "" "0001034841" "00026076" "10" "2199" "0" "2199" "0" "c.2199C>T" "r.(?)" "p.(Cys733=)" "" "0001034842" "00026076" "10" "3162" "0" "3162" "0" "c.3162G>A" "r.(?)" "p.(Pro1054=)" "" "0001034843" "00026076" "10" "3189" "0" "3189" "0" "c.3189G>A" "r.(?)" "p.(Glu1063=)" "" "0001052074" "00026076" "50" "1673" "0" "1673" "0" "c.1673G>A" "r.(?)" "p.(Arg558His)" "" "0001052075" "00026076" "50" "2477" "0" "2477" "0" "c.2477C>T" "r.(?)" "p.(Ala826Val)" "" "0001060736" "00026076" "50" "1564" "0" "1564" "0" "c.1564G>A" "r.(?)" "p.(Gly522Arg)" "" "0001062803" "00026076" "70" "230" "0" "230" "0" "c.230G>C" "r.(?)" "p.(Arg77Pro)" "4" "0001062804" "00026076" "70" "2751" "0" "2752" "0" "c.2751_2752del" "r.(?)" "p.(Gly918LysfsTer3)" "21" "0001062824" "00026076" "50" "1435" "0" "1435" "0" "c.1435G>A" "r.(?)" "p.(Gly479Arg)" "12" "0001062825" "00026076" "50" "2857" "-8" "2857" "-8" "c.2857-8T>G" "r.(?)" "p.(=)" "" "0001064397" "00026076" "50" "2227" "0" "2227" "0" "c.2227A>G" "r.(?)" "p.(Thr743Ala)" "" "0001069495" "00026076" "50" "1639" "0" "1639" "0" "c.1639G>A" "r.(?)" "p.(Ala547Thr)" "" "0001069692" "00026076" "50" "1187" "0" "1187" "0" "c.1187G>C" "r.(?)" "p.(Cys396Ser)" "" "0001072892" "00026076" "90" "352" "0" "352" "0" "c.352T>C" "r.(?)" "p.(Cys118Arg)" "" "0001072909" "00026076" "90" "1426" "1" "1426" "1" "c.1426+1G>T" "r.spl" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 20 "{{screeningid}}" "{{variantid}}" "0000156093" "0000357983" "0000294879" "0000651568" "0000294880" "0000651569" "0000294881" "0000651570" "0000294882" "0000651571" "0000306134" "0000669822" "0000363221" "0000763691" "0000409340" "0000846494" "0000444158" "0000946015" "0000444158" "0000946163" "0000444193" "0000946050" "0000472369" "0001060736" "0000473868" "0001062803" "0000473868" "0001062804" "0000473880" "0001062824" "0000473880" "0001062825" "0000475099" "0001069495" "0000475296" "0001069692" "0000477524" "0001072892" "0000477524" "0001072909"