### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = MTMR2)
# 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}}"
"MTMR2" "myotubularin related protein 2" "11" "q22" "unknown" "LRG_257" "UD_132118766066" "" "https://www.LOVD.nl/MTMR2" "" "1" "7450" "8898" "603557" "1" "1" "1" "1" "This database is one of the gene variant databases from the:![](\"docs/LOVD_LMDp-logo.png\")
.\r\nVariants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB. All variants submitted here will be shared with the IPNMDB." "" "g" "https://databases.lovd.nl/shared/refseq/MTMR2_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00001" "2012-05-23 00:00:00" "00006" "2017-12-28 09:53:37" "00006" "2026-03-06 17:26:39"
## 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}}"
"00014027" "MTMR2" "transcript variant 1" "001" "NM_016156.5" "" "NP_057240.3" "" "" "" "-253" "4342" "1932" "95657371" "95566044" "" "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}}"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"02356" "CMT4B1" "Charcot-Marie-Tooth disease, type 4B1 (CMT-4B1)" "AR" "601382" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"05113" "CMT" "Charcot-Marie-Tooth disease (CMT)" "" "" "" "" "" "00006" "2016-01-11 01:40:57" "" ""
"05157" "HMSN" "neuropathy, motor and sensory, hereditary (HMSN)" "" "" "" "" "" "00006" "2016-04-15 10:26:05" "" ""
"05384" "neuropathy" "neuropathy" "" "" "" "" "" "00006" "2018-01-27 20:34:06" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"MTMR2" "02356"
## Individuals ## Do not remove or alter this header ##
## Count = 33
"{{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}}"
"00036274" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036275" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036276" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036277" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036278" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036279" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036280" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036281" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036282" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036283" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036284" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036285" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036286" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00151891" "" "" "" "1" "" "00006" "{PMID:Houlden 2001:11335693}" "" "" "" "" "" "0" "" "" "" ""
"00151892" "" "" "" "1" "" "00006" "{PMID:Houlden 2001:11335693}" "" "" "" "" "" "0" "" "" "" ""
"00151893" "" "" "" "1" "" "00006" "{PMID:Bolino 2000:10802647}" "" "" "" "" "" "0" "" "" "" ""
"00151894" "" "" "" "1" "" "00006" "{PMID:Parman 2004:15469949}" "" "" "" "" "" "0" "" "" "" ""
"00151895" "" "" "" "1" "" "00006" "{PMID:Nelis 2002:12398840}" "" "" "" "" "" "0" "" "" "" ""
"00151896" "" "" "" "1" "" "00006" "{PMID:Bolino 2000:10802647}" "" "" "" "" "" "0" "" "" "" ""
"00151897" "" "" "" "1" "" "00006" "{PMID:Bolino 2000:10802647}" "" "" "" "" "" "0" "" "" "" ""
"00151898" "" "" "" "1" "" "00006" "{PMID:Bolino 2001:11354824}" "" "" "" "" "" "0" "" "" "" ""
"00151899" "" "" "" "1" "" "00006" "{PMID:Bolino 2000:10802647}" "" "" "" "" "" "0" "" "" "" ""
"00151900" "" "" "" "1" "" "00006" "{PMID:Verny 2004:15505184}" "" "" "" "" "" "0" "" "" "" ""
"00151901" "" "" "" "1" "" "00006" "{PMID:Bolino 2001:11354824}" "" "" "" "" "" "0" "" "" "" ""
"00218376" "" "" "" "8" "" "00006" "{PMID:Hu 2016:27615052}" "4-generation family, 8 affected heterozygous carriers (4F, 4M)" "F;M" "no" "United States" "" "0" "" "" "" "27615052_Fam"
"00290564" "" "" "" "9" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00374405" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-5539"
"00398502" "" "" "" "1" "" "04212" "{PMID:Lassuthova 2018:30028002}" "2-generation family, 1 affected, unaffected heterozygous carrier father/non-carrier mother" "M" "no" "Czech Republic" ">35y" "0" "" "" "" "FamFPatII:1"
"00398752" "" "" "" "1" "" "04188" "{PMID:Ferese 2021:34354735}" "2-generation family, 2 affected, 2 unaffected carrier parents" "F" "" "Italy" ">30y" "" "" "" "" "580"
"00473018" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "F" "no" "Iran" "" "0" "" "" "" "Fam5071Pat125"
"00473212" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "F" "yes" "Iran" "" "0" "" "" "" "Fam109754Pat401"
"00473300" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam202592Pat538"
"00473981" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, family history" "M" "no" "Iran" "" "0" "" "" "" "Fam9914436Pat1516"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 20
"{{individualid}}" "{{diseaseid}}"
"00151891" "05113"
"00151892" "05113"
"00151893" "05113"
"00151894" "05384"
"00151895" "05113"
"00151896" "05113"
"00151897" "05113"
"00151898" "05384"
"00151899" "05113"
"00151900" "05113"
"00151901" "05384"
"00218376" "05113"
"00290564" "00198"
"00374405" "00198"
"00398502" "05113"
"00398752" "02356"
"00473018" "05113"
"00473212" "05113"
"00473300" "05113"
"00473981" "05157"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 02356, 05113, 05157, 05384
## Count = 19
"{{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}}"
"0000124254" "05113" "00151891" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT-4B1" "Charcot-Marie-Tooth disease" ""
"0000124255" "05113" "00151892" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT-4B1" "Charcot-Marie-Tooth disease" ""
"0000124256" "05113" "00151893" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT-4B1" "Charcot-Marie-Tooth disease" ""
"0000124257" "05384" "00151894" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "demyelinating neuropathy" ""
"0000124258" "05113" "00151895" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT-4B1" "Charcot-Marie-Tooth disease" ""
"0000124259" "05113" "00151896" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT-4B1" "Charcot-Marie-Tooth disease" ""
"0000124260" "05113" "00151897" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT-4B1" "Charcot-Marie-Tooth disease" ""
"0000124261" "05384" "00151898" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "congenital hypomyelinating neuropathy ?" ""
"0000124262" "05113" "00151899" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT-4B1" "Charcot-Marie-Tooth disease" ""
"0000124263" "05113" "00151900" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT-4B1" "Charcot-Marie-Tooth disease" ""
"0000124264" "05384" "00151901" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "congenital hypomyelinating neuropathy ?" ""
"0000166816" "05113" "00218376" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "CMT-2P" "axonal polyneuropathy" ""
"0000269615" "00198" "00374405" "00006" "Familial, autosomal recessive" "" "Features suggestive of neuropathy" "" "" "" "" "" "" "" "" "" "neuropathy" ""
"0000291629" "05113" "00398502" "04212" "Familial, autosomal recessive" "35y" "32y-ocular disease; increased IOP (HP:0007906); 3y-footdrop (HP:0009027); leg-distal muscle weakness (HP:0002460); distal upper limb muscle weakness (HP:0008959); distal lower limb muscle weakness (HP:0009053); UL-hand muscle atrophy (HP:0009130); feet-upper limb muscle atrophy; 23y-pes cavovarus; claw hands (HP:0001171); increased deep tendon reflexes (HP:0001347); gait disturbance(HP:0001288); hypophonia (HP:0001621)" "03y" "03y" "footdrop (HP:0009027); leg-distal muscle weakness (HP:0002460" "" "" "" "" "" "CMT4B2" "Charcot-Marie-Tooth disease" ""
"0000291835" "02356" "00398752" "04188" "Familial, autosomal recessive" "30y" "Peripheral neuropathy (HP:0009830), No decreased nerve conduction velocity (-HP:0000762)" "22y" "" "Peripheral neuropathy (HP:0009830), No decreased nerve conduction velocity (-HP:0000762)" "" "" "" "" "" "CMT4B1" "CMT" ""
"0000357813" "05113" "00473018" "00006" "Unknown" "6y" "Motor milestone delay; Delayed walking; Generalized muscle weakness; Facial weakness; Epicanthic folds; Retrognathia; Thenar atrophy; Abnormality of gait, steppage; Foot drop; Flat feet; Decreased DTR; Decreased muscle force; EMG-NCV suggestive of motor sensory polyneuropathy, CMT." "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" ""
"0000358007" "05113" "00473212" "00006" "Familial, autosomal recessive" "18y" "onset 10y; Distal muscle weakness, distal>proximal, upper>lower; Sensory impairment, distal; Pes cavus; Intrinsic hand muscle atrophy; Seizure (since 2y old); Finger joint contracture; EMG-NCV: Sensorimotor, Peripheral neuropathy, mainly demyelinating type (R/O CMT); Abnormal EEG." "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" ""
"0000358095" "05113" "00473300" "00006" "Familial, autosomal recessive" "15y" "age 15y , hoarseness, Charcot-Marie-Tooth." "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" ""
"0000358776" "05157" "00473981" "00006" "Unknown" "18y" "Hypotonia since 5-mo; Febrile seizures 2.5y, Delayed walking; Facial muscle weakness; Generalized muscle weakness & atrophy, lower & upper; Scoliosis; Steppage gait; Foot drop; Areflexia; Wheelchair bound; Echocardiography: mild MVP & TR; EMG-NCV: demyelinating sensorimotor peripheral neuropathy; Mildly abnormal EEG." "" "" "" "" "" "" "" "" "" "hereditary motor and sensory neuropathy" ""
## Screenings ## Do not remove or alter this header ##
## Count = 33
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000036344" "00036274" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036345" "00036275" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036346" "00036276" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036347" "00036277" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036348" "00036278" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036349" "00036279" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036350" "00036280" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036351" "00036281" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036352" "00036282" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036353" "00036283" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036354" "00036284" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036355" "00036285" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036356" "00036286" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000152748" "00151891" "1" "00006" "00006" "2012-11-05 17:04:44" "" "" "SEQ" "DNA" "" ""
"0000152749" "00151892" "1" "00006" "00006" "2012-11-05 17:04:44" "" "" "SEQ" "DNA" "" ""
"0000152750" "00151893" "1" "00006" "00006" "2012-11-05 17:04:44" "" "" "SEQ" "DNA" "" ""
"0000152751" "00151894" "1" "00006" "00006" "2012-11-05 17:04:44" "" "" "SEQ" "DNA" "" ""
"0000152752" "00151895" "1" "00006" "00006" "2012-11-05 17:04:44" "" "" "SEQ" "DNA" "" ""
"0000152753" "00151896" "1" "00006" "00006" "2012-11-05 17:04:44" "" "" "SEQ" "DNA" "" ""
"0000152754" "00151897" "1" "00006" "00006" "2012-11-05 17:04:44" "" "" "SEQ" "DNA" "" ""
"0000152755" "00151898" "1" "00006" "00006" "2012-11-05 17:04:44" "" "" "SEQ" "DNA" "" ""
"0000152756" "00151899" "1" "00006" "00006" "2012-11-05 17:04:44" "" "" "SEQ" "DNA" "" ""
"0000152757" "00151900" "1" "00006" "00006" "2012-11-05 17:04:44" "" "" "SEQ" "DNA" "" ""
"0000152758" "00151901" "1" "00006" "00006" "2012-11-05 17:04:44" "" "" "SEQ" "DNA" "" ""
"0000219445" "00218376" "1" "00006" "00006" "2019-01-24 16:08:02" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel"
"0000291732" "00290564" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000375599" "00374405" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel"
"0000399748" "00398502" "1" "04212" "04212" "2022-01-05 15:59:26" "00006" "2022-01-06 15:44:50" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000399993" "00398752" "1" "04188" "04188" "2022-01-11 15:10:23" "" "" "SEQ-NG-I" "DNA" "" ""
"0000474687" "00473018" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000474881" "00473212" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000474969" "00473300" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000475650" "00473981" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 28
"{{screeningid}}" "{{geneid}}"
"0000036344" "MTMR2"
"0000036345" "MTMR2"
"0000036346" "MTMR2"
"0000036347" "MTMR2"
"0000036348" "MTMR2"
"0000036349" "MTMR2"
"0000036350" "MTMR2"
"0000036351" "MTMR2"
"0000036352" "MTMR2"
"0000036353" "MTMR2"
"0000036354" "MTMR2"
"0000036355" "MTMR2"
"0000036356" "MTMR2"
"0000152748" "MTMR2"
"0000152749" "MTMR2"
"0000152750" "MTMR2"
"0000152751" "MTMR2"
"0000152752" "MTMR2"
"0000152753" "MTMR2"
"0000152754" "MTMR2"
"0000152755" "MTMR2"
"0000152756" "MTMR2"
"0000152757" "MTMR2"
"0000152758" "MTMR2"
"0000219445" "LRSAM1"
"0000375599" "MTMR2"
"0000399748" "SBF2"
"0000399993" "MTMR2"
## 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 = 86
"{{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}}"
"0000063469" "1" "50" "11" "95569326" "95569326" "subst" "0.0352387" "01164" "MTMR2_000017" "g.95569326G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.95836162G>T" "" "VUS" ""
"0000063470" "1" "10" "11" "95569530" "95569530" "subst" "0.081659" "01164" "MTMR2_000018" "g.95569530G>A" "" "" "" "" "" "Germline" "" "rs9919542" "0" "" "" "g.95836366G>A" "" "benign" ""
"0000063471" "1" "10" "11" "95571347" "95571347" "subst" "0.0353279" "01164" "MTMR2_000019" "g.95571347C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.95838183C>G" "" "benign" ""
"0000063472" "1" "50" "11" "95595388" "95595391" "del" "0.034363" "01164" "MTMR2_000012" "g.95595388_95595391del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.95862224_95862227del" "" "VUS" ""
"0000063473" "1" "10" "11" "95569253" "95569253" "subst" "0" "01164" "MTMR2_000016" "g.95569253A>C" "" "" "" "" "" "Germline" "" "rs627568" "0" "" "" "g.95836089A>C" "" "benign" ""
"0000063474" "1" "50" "11" "95574999" "95574999" "subst" "0" "01164" "MTMR2_000030" "g.95574999C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.95841835C>A" "" "VUS" ""
"0000063475" "1" "10" "11" "95580926" "95580926" "subst" "0.297487" "01164" "MTMR2_000015" "g.95580926G>A" "" "" "" "" "" "Germline" "" "rs566204" "0" "" "" "g.95847762G>A" "" "benign" ""
"0000063476" "1" "10" "11" "95621301" "95621301" "subst" "0.071749" "01164" "MTMR2_000013" "g.95621301T>A" "" "" "" "" "" "Germline" "" "rs12385798" "0" "" "" "g.95888137T>A" "" "benign" ""
"0000063477" "1" "50" "11" "95574999" "95574999" "subst" "0" "01164" "MTMR2_000030" "g.95574999C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.95841835C>A" "" "VUS" ""
"0000063478" "1" "10" "11" "95657111" "95657111" "subst" "0.285857" "01164" "MTMR2_000014" "g.95657111T>G" "" "" "" "" "" "Germline" "" "rs3824874" "0" "" "" "g.95923947T>G" "" "benign" ""
"0000063479" "1" "50" "11" "95569326" "95569326" "subst" "0.0352387" "01164" "MTMR2_000017" "g.95569326G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.95836162G>T" "" "VUS" ""
"0000063480" "1" "10" "11" "95591872" "95591872" "subst" "0" "01164" "MTMR2_000029" "g.95591872A>G" "" "" "" "" "" "Germline" "" "rs11021336" "0" "" "" "g.95858708A>G" "" "benign" ""
"0000063481" "1" "50" "11" "95571347" "95571347" "subst" "0.0353279" "01164" "MTMR2_000019" "g.95571347C>G" "" "" "" "" "" "Germline" "" "rs61735578" "0" "" "" "g.95838183C>G" "" "VUS" ""
"0000246984" "0" "10" "11" "95591684" "95591684" "subst" "0.00382183" "02330" "MTMR2_000040" "g.95591684A>G" "" "" "" "MTMR2(NM_001243571.2):c.354+11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95858520A>G" "" "benign" ""
"0000250985" "0" "10" "11" "95591684" "95591684" "subst" "0.00382183" "02326" "MTMR2_000040" "g.95591684A>G" "" "" "" "MTMR2(NM_001243571.2):c.354+11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95858520A>G" "" "benign" ""
"0000280043" "0" "30" "11" "95615695" "95615699" "del" "0" "02330" "MTMR2_000042" "g.95615695_95615699del" "" "" "" "MTMR2(NM_001243571.2):c.-153-6_-153-2delTTTTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95882531_95882535del" "" "likely benign" ""
"0000280044" "0" "10" "11" "95621301" "95621301" "subst" "0.071749" "02330" "MTMR2_000028" "g.95621301T>A" "" "" "" "MTMR2(NM_001243571.2):c.-227+19A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95888137T>A" "" "benign" ""
"0000280045" "0" "10" "11" "95657026" "95657026" "subst" "0.0172759" "02330" "MTMR2_000043" "g.95657026G>A" "" "" "" "MTMR2(NM_001243571.2):c.-404+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95923862G>A" "" "benign" ""
"0000280046" "0" "10" "11" "95578270" "95578270" "subst" "0" "02330" "MTMR2_000039" "g.95578270C>A" "" "" "" "MTMR2(NM_001243571.2):c.1017G>T (p.T339=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95845106C>A" "" "benign" ""
"0000280047" "0" "90" "11" "95578227" "95578227" "subst" "4.07169E-6" "02330" "MTMR2_000038" "g.95578227G>A" "" "" "" "MTMR2(NM_001243571.2):c.1060C>T (p.Q354*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95845063G>A" "" "pathogenic" ""
"0000280048" "0" "50" "11" "95578167" "95578167" "subst" "0.000402816" "02330" "MTMR2_000037" "g.95578167C>T" "" "" "" "MTMR2(NM_001243571.2):c.1120G>A (p.E374K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95845003C>T" "" "VUS" ""
"0000280049" "0" "50" "11" "95574825" "95574825" "subst" "0" "02330" "MTMR2_000036" "g.95574825C>T" "" "" "" "MTMR2(NM_001243571.2):c.1219G>A (p.V407I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95841661C>T" "" "VUS" ""
"0000280050" "0" "90" "11" "95574816" "95574816" "subst" "4.07359E-6" "02330" "MTMR2_000035" "g.95574816G>A" "" "" "" "MTMR2(NM_001243571.2):c.1228C>T (p.Q410*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95841652G>A" "" "pathogenic" ""
"0000280051" "0" "10" "11" "95571347" "95571347" "subst" "0.0353279" "02330" "MTMR2_000019" "g.95571347C>G" "" "" "" "MTMR2(NM_001243571.2):c.1288G>C (p.E430Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95838183C>G" "" "benign" ""
"0000280052" "0" "10" "11" "95569448" "95569448" "subst" "0.00282233" "02330" "MTMR2_000034" "g.95569448T>C" "" "" "" "MTMR2(NM_001243571.2):c.1418A>G (p.N473S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95836284T>C" "" "benign" ""
"0000280053" "0" "90" "11" "95569333" "95569333" "subst" "0" "02330" "MTMR2_000033" "g.95569333C>T" "" "" "" "MTMR2(NM_001243571.2):c.1533G>A (p.W511*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95836169C>T" "" "pathogenic" ""
"0000280054" "0" "10" "11" "95569326" "95569326" "subst" "0.0352387" "02330" "MTMR2_000017" "g.95569326G>T" "" "" "" "MTMR2(NM_001243571.2):c.1540C>A (p.R514=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95836162G>T" "" "benign" ""
"0000280055" "0" "90" "11" "95568581" "95568581" "subst" "0.00199595" "02330" "MTMR2_000032" "g.95568581G>C" "" "" "" "MTMR2(NM_001243571.2):c.1589C>G (p.A530G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95835417G>C" "" "pathogenic" ""
"0000280056" "0" "50" "11" "95568524" "95568524" "subst" "0.000640184" "02330" "MTMR2_000031" "g.95568524C>T" "" "" "" "MTMR2(NM_001243571.2):c.1646G>A (p.R549Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95835360C>T" "" "VUS" ""
"0000280060" "0" "90" "11" "95583005" "95583005" "subst" "0" "02330" "MTMR2_000021" "g.95583005C>A" "" "" "" "MTMR2(NM_001243571.2):c.610G>T (p.E204*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95849841C>A" "" "pathogenic" ""
"0000280061" "0" "90" "11" "95582984" "95582984" "subst" "0" "02330" "MTMR2_000020" "g.95582984G>A" "" "" "" "MTMR2(NM_001243571.2):c.631C>T (p.R211W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95849820G>A" "" "pathogenic" ""
"0000280062" "0" "50" "11" "95595495" "95595495" "subst" "0.000675637" "02330" "MTMR2_000041" "g.95595495C>T" "" "" "" "MTMR2(NM_001243571.2):c.82G>A (p.A28T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95862331C>T" "" "VUS" ""
"0000280063" "0" "10" "11" "95657111" "95657111" "subst" "0.285857" "02330" "MTMR2_000027" "g.95657111T>G" "" "" "" "MTMR2(NM_016156.6):c.8A>C (p.K3T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95923947T>G" "" "benign" ""
"0000280064" "0" "10" "11" "95580926" "95580926" "subst" "0.297487" "02330" "MTMR2_000015" "g.95580926G>A" "" "" "" "MTMR2(NM_001243571.2):c.915C>T (p.T305=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95847762G>A" "" "benign" ""
"0000280065" "0" "90" "11" "95595485" "95595485" "subst" "0" "02330" "MTMR2_000007" "g.95595485C>T" "" "" "" "MTMR2(NM_001243571.2):c.92G>A (p.G31E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95862321C>T" "" "pathogenic" ""
"0000282662" "0" "10" "11" "95580926" "95580926" "subst" "0.297487" "02325" "MTMR2_000015" "g.95580926G>A" "" "" "" "MTMR2(NM_001243571.2):c.915C>T (p.T305=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95847762G>A" "" "benign" ""
"0000286694" "0" "10" "11" "95657026" "95657026" "subst" "0.0172759" "02326" "MTMR2_000043" "g.95657026G>A" "" "" "" "MTMR2(NM_001243571.2):c.-404+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95923862G>A" "" "benign" ""
"0000286695" "0" "10" "11" "95571347" "95571347" "subst" "0.0353279" "02326" "MTMR2_000019" "g.95571347C>G" "" "" "" "MTMR2(NM_001243571.2):c.1288G>C (p.E430Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.95838183C>G" "" "benign" ""
"0000351583" "0" "90" "11" "95595485" "95595485" "subst" "0" "00006" "MTMR2_000007" "g.95595485C>T" "" "{PMID:Houlden 2001:11335693}" "" "" "" "Germline" "" "" "0" "" "" "g.95862321C>T" "" "pathogenic" ""
"0000351584" "0" "90" "11" "95595469" "95595469" "del" "0" "00006" "MTMR2_000008" "g.95595469del" "" "{PMID:Houlden 2001:11335693}" "" "c.324delG" "" "Germline" "" "" "0" "" "" "g.95862305del" "" "pathogenic" ""
"0000351585" "0" "90" "11" "95583005" "95583005" "subst" "0" "00006" "MTMR2_000009" "g.95583005C>A" "" "{PMID:Bolino 2000:10802647}" "" "" "" "Germline" "" "" "0" "" "" "g.95849841C>A" "" "pathogenic" ""
"0000351586" "0" "90" "11" "95582989" "95582992" "del" "0" "00006" "MTMR2_000010" "g.95582989_95582992del" "" "{PMID:Parman 2004:15469949}" "" "c.841_844delATCA" "" "Germline" "" "" "0" "" "" "g.95849825_95849828del" "" "pathogenic" ""
"0000351587" "0" "90" "11" "95582984" "95582984" "subst" "0" "00006" "MTMR2_000011" "g.95582984G>A" "" "{PMID:Nelis 2002:12398840}" "" "" "" "Germline" "" "" "0" "" "" "g.95849820G>A" "" "pathogenic" ""
"0000351588" "0" "90" "11" "95578227" "95578227" "subst" "4.07169E-6" "00006" "MTMR2_000001" "g.95578227G>A" "" "{PMID:Bolino 2000:10802647}" "" "" "" "Germline" "" "" "0" "" "" "g.95845063G>A" "" "pathogenic" ""
"0000351589" "0" "90" "11" "95574816" "95574816" "subst" "4.07359E-6" "00006" "MTMR2_000002" "g.95574816G>A" "" "{PMID:Bolino 2000:10802647}" "" "" "" "Germline" "" "" "0" "" "" "g.95841652G>A" "" "pathogenic" ""
"0000351590" "0" "90" "11" "95569448" "95569448" "subst" "0.00282233" "00006" "MTMR2_000003" "g.95569448T>C" "" "{PMID:Bolino 2001:11354824}" "" "" "" "Germline" "" "rs558018" "0" "" "" "g.95836284T>C" "" "pathogenic" ""
"0000351591" "0" "90" "11" "95569337" "95569346" "delins" "0" "00006" "MTMR2_000004" "g.95569337_95569346delinsGG" "" "{PMID:Bolino 2000:10802647}" "" "c.1736_1745delATTACATAAGinsCC" "" "Germline" "" "" "0" "" "" "g.95836173_95836182delinsGG" "" "pathogenic" ""
"0000351592" "0" "90" "11" "95569333" "95569333" "subst" "0" "00006" "MTMR2_000005" "g.95569333C>T" "" "{PMID:Verny 2004:15505184}" "" "" "" "Germline" "" "" "0" "" "" "g.95836169C>T" "" "pathogenic" ""
"0000351593" "0" "90" "11" "95568581" "95568581" "subst" "0.00199595" "00006" "MTMR2_000006" "g.95568581G>C" "" "{PMID:Bolino 2001:11354824}" "" "" "" "Germline" "" "rs76784113" "0" "" "" "g.95835417G>C" "" "pathogenic" ""
"0000454301" "2" "50" "11" "95571347" "95571347" "subst" "0.0353279" "00006" "MTMR2_000019" "g.95571347C>G" "" "{PMID:Hu 2016:27615052}" "" "1288G>C (E430Q)" "variant in 2 affected/1 non-affected member and absent in 3 affecteds" "Germline" "no" "" "0" "" "" "g.95838183C>G" "" "VUS" ""
"0000546130" "0" "10" "11" "95564259" "95564259" "subst" "0.297175" "02325" "CEP57_000016" "g.95564259A>G" "" "" "" "CEP57(NM_001243776.2):c.1315A>G (p.R439G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95831095A>G" "" "benign" ""
"0000546131" "0" "50" "11" "95564285" "95564285" "del" "0" "01804" "CEP57_000017" "g.95564285del" "" "" "" "CEP57(NM_001243776.1):c.1341delC (p.(Thr448GlnfsTer10))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95831121del" "" "VUS" ""
"0000546132" "0" "30" "11" "95568489" "95568489" "subst" "0.000171367" "01943" "CEP57_000018" "g.95568489C>T" "" "" "" "MTMR2(NM_001243571.1):c.1681G>A (p.A561T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95835325C>T" "" "likely benign" ""
"0000546134" "0" "30" "11" "95568531" "95568531" "subst" "0.00284512" "02330" "CEP57_000019" "g.95568531A>G" "" "" "" "MTMR2(NM_001243571.2):c.1639T>C (p.S547P), MTMR2(NM_016156.5):c.1855T>C (p.S619P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95835367A>G" "" "likely benign" ""
"0000546135" "0" "50" "11" "95568535" "95568535" "subst" "8.15182E-6" "02330" "CEP57_000020" "g.95568535C>G" "" "" "" "MTMR2(NM_001243571.2):c.1635G>C (p.E545D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95835371C>G" "" "VUS" ""
"0000546136" "0" "30" "11" "95569293" "95569298" "del" "0.000187757" "02330" "CEP57_000021" "g.95569293_95569298del" "" "" "" "MTMR2(NM_001243571.2):c.1554+14_1554+19delAATATA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95836129_95836134del" "" "likely benign" ""
"0000546137" "0" "30" "11" "95569300" "95569305" "del" "0.000179727" "02330" "CEP57_000022" "g.95569300_95569305del" "" "" "" "MTMR2(NM_001243571.2):c.1554+7_1554+12delGCCTTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95836136_95836141del" "" "likely benign" ""
"0000546138" "0" "10" "11" "95578270" "95578270" "subst" "0.0167391" "02330" "MTMR2_000044" "g.95578270C>T" "" "" "" "MTMR2(NM_001243571.2):c.1017G>A (p.T339=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95845106C>T" "" "benign" ""
"0000546139" "0" "50" "11" "95578280" "95578280" "subst" "0" "02330" "MTMR2_000045" "g.95578280G>A" "" "" "" "MTMR2(NM_001243571.2):c.1007C>T (p.S336L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95845116G>A" "" "VUS" ""
"0000546140" "0" "10" "11" "95578325" "95578326" "ins" "0" "02330" "MTMR2_000046" "g.95578325_95578326insTAATATGTTCTAGCCAATGAGTAGATTCCAAGTTAGACAACCAGTGGGTTTCCTCAATGTTGG" "" "" "" "MTMR2(NM_001243571.2):c.964-2_964-1ins63" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95845161_95845162insTAATATGTTCTAGCCAATGAGTAGATTCCAAGTTAGACAACCAGTGGGTTTCCTCAATGTTGG" "" "benign" ""
"0000546141" "0" "30" "11" "95578328" "95578328" "subst" "0" "02330" "MTMR2_000047" "g.95578328A>T" "" "" "" "MTMR2(NM_001243571.2):c.964-5T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95845164A>T" "" "likely benign" ""
"0000546142" "0" "30" "11" "95578330" "95578330" "subst" "0" "02330" "MTMR2_000048" "g.95578330A>C" "" "" "" "MTMR2(NM_001243571.2):c.964-7T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95845166A>C" "" "likely benign" ""
"0000546143" "0" "30" "11" "95583915" "95583916" "ins" "0" "02330" "MTMR2_000049" "g.95583915_95583916insGCCTTCT" "" "" "" "MTMR2(NM_001243571.2):c.439-1_439insAAGGCAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95850751_95850752insGCCTTCT" "" "likely benign" ""
"0000546144" "0" "10" "11" "95583915" "95583916" "ins" "0" "02330" "MTMR2_000050" "g.95583915_95583916insGCCTTCTATACTCTAAAAGAGGGTCATATAGCTTCCACCCATTTTCAGGGAATACTTCTTTGTATTCA" "" "" "" "MTMR2(NM_001243571.2):c.439-2_439-1ins68" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95850751_95850752insGCCTTCTATACTCTAAAAGAGGGTCATATAGCTTCCACCCATTTTCAGGGAATACTTCTTTGTATTCA" "" "benign" ""
"0000546145" "0" "10" "11" "95583915" "95583916" "ins" "0" "02330" "MTMR2_000051" "g.95583915_95583916insGCCTTCTATACTCTAAAAGAGGGTCATATAGCTTCCACCCATTTTCAGGGAATACTTCTTTGTATTCAAA" "" "" "" "MTMR2(NM_001243571.2):c.439-2_439-1ins70" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95850751_95850752insGCCTTCTATACTCTAAAAGAGGGTCATATAGCTTCCACCCATTTTCAGGGAATACTTCTTTGTATTCAAA" "" "benign" ""
"0000546146" "0" "30" "11" "95583916" "95583917" "ins" "0" "02330" "MTMR2_000052" "g.95583916_95583917insTACTCTAAAAGAGGGT" "" "" "" "MTMR2(NM_001243571.2):c.439-4_439-3insACCCTCTTTTAGAGTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95850752_95850753insTACTCTAAAAGAGGGT" "" "likely benign" ""
"0000546147" "0" "30" "11" "95583919" "95583920" "ins" "0" "02330" "MTMR2_000053" "g.95583919_95583920insATAGCTTCCACCCATTTTCAGG" "" "" "" "MTMR2(NM_001243571.2):c.439-6_439-5insCTGAAAATGGGTGGAAGCTATC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95850755_95850756insATAGCTTCCACCCATTTTCAGG" "" "likely benign" ""
"0000546148" "0" "30" "11" "95583932" "95583932" "subst" "1.62957E-5" "02330" "MTMR2_000054" "g.95583932A>G" "" "" "" "MTMR2(NM_001243571.2):c.439-19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95850768A>G" "" "likely benign" ""
"0000546149" "0" "30" "11" "95595267" "95595268" "ins" "1.63484E-5" "02330" "MTMR2_000055" "g.95595267_95595268insCGTTCCATGCTTTTGAAATA" "" "" "" "MTMR2(NM_001243571.2):c.142-2_142-1insTATTTCAAAAGCATGGAACG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95862103_95862104insCGTTCCATGCTTTTGAAATA" "" "likely benign" ""
"0000546150" "0" "30" "11" "95595270" "95595271" "ins" "0" "02330" "MTMR2_000056" "g.95595270_95595271insCCTATAATTCGTGACAGTCAGAGTTCCTCGTAC" "" "" "" "MTMR2(NM_001243571.2):c.142-5_142-4ins33" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95862106_95862107insCCTATAATTCGTGACAGTCAGAGTTCCTCGTAC" "" "likely benign" ""
"0000648421" "1" "30" "11" "95578270" "95578270" "subst" "0.0167391" "03575" "MTMR2_000044" "g.95578270C>T" "9/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "9 heterozygous, no homozygous; {DB:CLININrs113897932}" "Germline" "" "rs113897932" "0" "" "" "g.95845106C>T" "" "likely benign" ""
"0000656962" "0" "50" "11" "95595470" "95595470" "subst" "0" "02330" "MTMR2_000057" "g.95595470G>A" "" "" "" "MTMR2(NM_001243571.2):c.107C>T (p.T36M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95862306G>A" "" "VUS" ""
"0000723772" "0" "30" "11" "95574829" "95574829" "subst" "0.000236189" "02330" "MTMR2_000058" "g.95574829C>T" "" "" "" "MTMR2(NM_001243571.2):c.1215G>A (p.S405=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000723773" "0" "30" "11" "95621321" "95621323" "del" "0" "02330" "MTMR2_000059" "g.95621321_95621323del" "" "" "" "MTMR2(NM_016156.6):c.184_186delAGG (p.R62del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000786950" "3" "70" "11" "95569348" "95569348" "dup" "0" "00006" "MTMR2_000060" "g.95569348dup" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.95836184dup" "" "likely pathogenic" ""
"0000805481" "0" "30" "11" "95568531" "95568531" "subst" "0.00284512" "02326" "CEP57_000019" "g.95568531A>G" "" "" "" "MTMR2(NM_001243571.2):c.1639T>C (p.S547P), MTMR2(NM_016156.5):c.1855T>C (p.S619P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000805482" "0" "50" "11" "95583026" "95583027" "ins" "0" "01943" "MTMR2_000061" "g.95583026_95583027insTGGGATACGGCCT" "" "" "" "MTMR2(NM_001243571.1):c.589-1_589insAGGCCGTATCCCA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000805483" "0" "50" "11" "95583032" "95583033" "ins" "0" "01943" "MTMR2_000062" "g.95583032_95583033insCT" "" "" "" "MTMR2(NM_001243571.1):c.589-6_589-5insGA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000832421" "1" "50" "11" "95590766" "95590766" "subst" "0.000261035" "00006" "MTMR2_000063" "g.95590766G>C" "" "{PMID:Lassuthova 2018:30028002}" "" "Pro202Ala" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000832698" "3" "90" "11" "95595161" "95595161" "subst" "0" "04188" "MTMR2_000064" "g.95595161A>G" "" "{PMID:Ferese 2021:34354735}" "" "" "ACMG: PM2-PM3-PP1-PP3-PP4" "Germline" "" "" "" "" "" "g.95861997A>G" "SCV001424522" "likely pathogenic (recessive)" ""
"0000999553" "0" "30" "11" "95595544" "95595544" "subst" "0" "02330" "MTMR2_000065" "g.95595544A>G" "" "" "" "MTMR2(NM_001243571.2):c.47-14T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000999554" "0" "30" "11" "95598814" "95598814" "subst" "0" "02330" "MTMR2_000066" "g.95598814T>C" "" "" "" "MTMR2(NM_016156.6):c.213A>G (p.A71=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001069085" "3" "50" "11" "95568600" "95568610" "dup" "0" "00006" "MTMR2_000067" "g.95568600_95568610dup" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM2, PVS1, mod" "Germline" "" "" "0" "" "" "g.95835436_95835446dup" "SCV006075071" "VUS" "ACMG"
"0001069279" "3" "70" "11" "95580972" "95580972" "subst" "0" "00006" "MTMR2_000068" "g.95580972G>T" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PVS1VS, PM2" "Germline" "" "" "0" "" "" "g.95847808G>T" "SCV006075072" "likely pathogenic" "ACMG"
"0001069367" "3" "70" "11" "95583027" "95583028" "del" "0" "00006" "MTMR2_000069" "g.95583027_95583028del" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PVS1Strong, PM2mod" "Germline" "" "" "0" "" "" "g.95849863_95849864del" "SCV006075073" "likely pathogenic" "ACMG"
"0001070042" "3" "50" "11" "95595477" "95595477" "subst" "0" "00006" "MTMR2_000070" "g.95595477T>G" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.95862313T>G" "SCV006075074" "VUS" "ACMG"
## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes MTMR2
## Count = 86
"{{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}}"
"0000063469" "00014027" "50" "1756" "0" "1756" "0" "c.1756C>A" "r.(=)" "p.(=)" ""
"0000063470" "00014027" "10" "1594" "-42" "1594" "-42" "c.1594-42C>T" "r.(=)" "p.(=)" ""
"0000063471" "00014027" "10" "1504" "0" "1504" "0" "c.1504G>C" "r.(?)" "p.(Glu502Gln)" ""
"0000063472" "00014027" "50" "357" "45" "357" "48" "c.357+45_357+48del" "r.(=)" "p.(=)" ""
"0000063473" "00014027" "10" "1770" "59" "1770" "59" "c.1770+59T>G" "r.(=)" "p.(=)" ""
"0000063474" "00014027" "50" "1387" "-126" "1387" "-126" "c.1387-126G>T" "r.(=)" "p.(=)" ""
"0000063475" "00014027" "10" "1131" "0" "1131" "0" "c.1131C>T" "r.(=)" "p.(=)" ""
"0000063476" "00014027" "10" "186" "19" "186" "19" "c.186+19A>T" "r.(=)" "p.(=)" ""
"0000063477" "00014027" "50" "1387" "-126" "1387" "-126" "c.1387-126G>T" "r.(=)" "p.(=)" ""
"0000063478" "00014027" "10" "8" "0" "8" "0" "c.8A>C" "r.(?)" "p.(Lys3Thr)" ""
"0000063479" "00014027" "50" "1756" "0" "1756" "0" "c.1756C>A" "r.(=)" "p.(=)" ""
"0000063480" "00014027" "10" "469" "-76" "469" "-76" "c.469-76T>C" "r.(=)" "p.(=)" ""
"0000063481" "00014027" "50" "1504" "0" "1504" "0" "c.1504G>C" "r.(?)" "p.(Glu502Gln)" ""
"0000246984" "00014027" "10" "570" "11" "570" "11" "c.570+11T>C" "r.(=)" "p.(=)" ""
"0000250985" "00014027" "10" "570" "11" "570" "11" "c.570+11T>C" "r.(=)" "p.(=)" ""
"0000280043" "00014027" "30" "186" "5654" "186" "5658" "c.186+5654_186+5658del" "r.(=)" "p.(=)" ""
"0000280044" "00014027" "10" "186" "19" "186" "19" "c.186+19A>T" "r.(=)" "p.(=)" ""
"0000280045" "00014027" "10" "80" "13" "80" "13" "c.80+13C>T" "r.(=)" "p.(=)" ""
"0000280046" "00014027" "10" "1233" "0" "1233" "0" "c.1233G>T" "r.(?)" "p.(Thr411=)" ""
"0000280047" "00014027" "90" "1276" "0" "1276" "0" "c.1276C>T" "r.(?)" "p.(Gln426Ter)" ""
"0000280048" "00014027" "50" "1336" "0" "1336" "0" "c.1336G>A" "r.(?)" "p.(Glu446Lys)" ""
"0000280049" "00014027" "50" "1435" "0" "1435" "0" "c.1435G>A" "r.(?)" "p.(Val479Ile)" ""
"0000280050" "00014027" "90" "1444" "0" "1444" "0" "c.1444C>T" "r.(?)" "p.(Gln482Ter)" ""
"0000280051" "00014027" "10" "1504" "0" "1504" "0" "c.1504G>C" "r.(?)" "p.(Glu502Gln)" ""
"0000280052" "00014027" "10" "1634" "0" "1634" "0" "c.1634A>G" "r.(?)" "p.(Asn545Ser)" ""
"0000280053" "00014027" "90" "1749" "0" "1749" "0" "c.1749G>A" "r.(?)" "p.(Trp583Ter)" ""
"0000280054" "00014027" "10" "1756" "0" "1756" "0" "c.1756C>A" "r.(?)" "p.(Arg586=)" ""
"0000280055" "00014027" "90" "1805" "0" "1805" "0" "c.1805C>G" "r.(?)" "p.(Ala602Gly)" ""
"0000280056" "00014027" "50" "1862" "0" "1862" "0" "c.1862G>A" "r.(?)" "p.(Arg621Gln)" ""
"0000280060" "00014027" "90" "826" "0" "826" "0" "c.826G>T" "r.(?)" "p.(Glu276Ter)" ""
"0000280061" "00014027" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" ""
"0000280062" "00014027" "50" "298" "0" "298" "0" "c.298G>A" "r.(?)" "p.(Ala100Thr)" ""
"0000280063" "00014027" "10" "8" "0" "8" "0" "c.8A>C" "r.(?)" "p.(Lys3Thr)" ""
"0000280064" "00014027" "10" "1131" "0" "1131" "0" "c.1131C>T" "r.(?)" "p.(Thr377=)" ""
"0000280065" "00014027" "90" "308" "0" "308" "0" "c.308G>A" "r.(?)" "p.(Gly103Glu)" ""
"0000282662" "00014027" "10" "1131" "0" "1131" "0" "c.1131C>T" "r.(?)" "p.(Thr377=)" ""
"0000286694" "00014027" "10" "80" "13" "80" "13" "c.80+13C>T" "r.(=)" "p.(=)" ""
"0000286695" "00014027" "10" "1504" "0" "1504" "0" "c.1504G>C" "r.(?)" "p.(Glu502Gln)" ""
"0000351583" "00014027" "90" "308" "0" "308" "0" "c.308G>A" "r.(?)" "p.(Gly103Glu)" "4"
"0000351584" "00014027" "90" "324" "0" "324" "0" "c.324del" "r.(?)" "p.(Asn109Ilefs*17)" "4"
"0000351585" "00014027" "90" "826" "0" "826" "0" "c.826G>T" "r.(?)" "p.(Glu276*)" "9"
"0000351586" "00014027" "90" "841" "0" "844" "0" "c.841_844del" "r.(?)" "p.(Ile281Leufs*10)" "9"
"0000351587" "00014027" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Trp)" "9"
"0000351588" "00014027" "90" "1276" "0" "1276" "0" "c.1276C>T" "r.(?)" "p.(Gln426*)" "11"
"0000351589" "00014027" "90" "1444" "0" "1444" "0" "c.1444C>T" "r.(?)" "p.(Gln482*)" "12"
"0000351590" "00014027" "90" "1634" "0" "1634" "0" "c.1634A>G" "r.(?)" "p.(Asn545Ser)" "14"
"0000351591" "00014027" "90" "1736" "0" "1745" "0" "c.1736_1745delinsCC" "r.(?)" "p.(Tyr579Serfs*22)" "14"
"0000351592" "00014027" "90" "1749" "0" "1749" "0" "c.1749G>A" "r.(?)" "p.(Trp583*)" "14"
"0000351593" "00014027" "90" "1805" "0" "1805" "0" "c.1805C>G" "r.(?)" "p.(Ala602Gly)" "15"
"0000454301" "00014027" "50" "1504" "0" "1504" "0" "c.1504G>C" "r.(?)" "p.(Glu502Gln)" ""
"0000546130" "00014027" "10" "6127" "0" "6127" "0" "c.*4195T>C" "r.(=)" "p.(=)" ""
"0000546131" "00014027" "50" "6101" "0" "6101" "0" "c.*4169del" "r.(?)" "p.(=)" ""
"0000546132" "00014027" "30" "1897" "0" "1897" "0" "c.1897G>A" "r.(?)" "p.(Ala633Thr)" ""
"0000546134" "00014027" "30" "1855" "0" "1855" "0" "c.1855T>C" "r.(?)" "p.(Ser619Pro)" ""
"0000546135" "00014027" "50" "1851" "0" "1851" "0" "c.1851G>C" "r.(?)" "p.(Glu617Asp)" ""
"0000546136" "00014027" "30" "1770" "14" "1770" "19" "c.1770+14_1770+19del" "r.(=)" "p.(=)" ""
"0000546137" "00014027" "30" "1770" "7" "1770" "12" "c.1770+7_1770+12del" "r.(=)" "p.(=)" ""
"0000546138" "00014027" "10" "1233" "0" "1233" "0" "c.1233G>A" "r.(?)" "p.(Thr411=)" ""
"0000546139" "00014027" "50" "1223" "0" "1223" "0" "c.1223C>T" "r.(?)" "p.(Ser408Leu)" ""
"0000546140" "00014027" "10" "1180" "-3" "1180" "-2" "c.1180-3_1180-2insCCAACATTGAGGAAACCCACTGGTTGTCTAACTTGGAATCTACTCATTGGCTAGAACATATTA" "r.spl?" "p.?" ""
"0000546141" "00014027" "30" "1180" "-5" "1180" "-5" "c.1180-5T>A" "r.spl?" "p.?" ""
"0000546142" "00014027" "30" "1180" "-7" "1180" "-7" "c.1180-7T>G" "r.(=)" "p.(=)" ""
"0000546143" "00014027" "30" "655" "-1" "655" "0" "c.655-1_655insAAGGCAG" "r.spl?" "p.?" ""
"0000546144" "00014027" "10" "655" "-3" "655" "-2" "c.655-3_655-2insTGAATACAAAGAAGTATTCCCTGAAAATGGGTGGAAGCTATATGACCCTCTTTTAGAGTATAGAAGGC" "r.spl?" "p.?" ""
"0000546145" "00014027" "10" "655" "-3" "655" "-2" "c.655-3_655-2insTTTGAATACAAAGAAGTATTCCCTGAAAATGGGTGGAAGCTATATGACCCTCTTTTAGAGTATAGAAGGC" "r.spl?" "p.?" ""
"0000546146" "00014027" "30" "655" "-4" "655" "-3" "c.655-4_655-3insACCCTCTTTTAGAGTA" "r.spl?" "p.?" ""
"0000546147" "00014027" "30" "655" "-7" "655" "-6" "c.655-7_655-6insCCTGAAAATGGGTGGAAGCTAT" "r.(=)" "p.(=)" ""
"0000546148" "00014027" "30" "655" "-19" "655" "-19" "c.655-19T>C" "r.(=)" "p.(=)" ""
"0000546149" "00014027" "30" "358" "-2" "358" "-1" "c.358-2_358-1insTATTTCAAAAGCATGGAACG" "r.spl?" "p.?" ""
"0000546150" "00014027" "30" "358" "-5" "358" "-4" "c.358-5_358-4insGTACGAGGAACTCTGACTGTCACGAATTATAGG" "r.spl?" "p.?" ""
"0000648421" "00014027" "30" "1233" "0" "1233" "0" "c.1233G>A" "r.(=)" "p.(=)" ""
"0000656962" "00014027" "50" "323" "0" "323" "0" "c.323C>T" "r.(?)" "p.(Thr108Met)" ""
"0000723772" "00014027" "30" "1431" "0" "1431" "0" "c.1431G>A" "r.(?)" "p.(Ser477=)" ""
"0000723773" "00014027" "30" "184" "0" "186" "0" "c.184_186del" "r.(?)" "p.(Arg62del)" ""
"0000786950" "00014027" "70" "1734" "0" "1734" "0" "c.1734dup" "r.(?)" "p.(Tyr579IlefsTer25)" "14"
"0000805481" "00014027" "30" "1855" "0" "1855" "0" "c.1855T>C" "r.(?)" "p.(Ser619Pro)" ""
"0000805482" "00014027" "50" "805" "-1" "805" "0" "c.805-1_805insAGGCCGTATCCCA" "r.spl?" "p.?" ""
"0000805483" "00014027" "50" "805" "-6" "805" "-5" "c.805-6_805-5insGA" "r.spl?" "p.?" ""
"0000832421" "00014027" "50" "604" "0" "604" "0" "c.604C>G" "r.(?)" "p.(Pro202Ala)" ""
"0000832698" "00014027" "90" "463" "0" "463" "0" "c.463T>C" "r.(?)" "p.(Cys155Arg)" ""
"0000999553" "00014027" "30" "263" "-14" "263" "-14" "c.263-14T>C" "r.(=)" "p.(=)" ""
"0000999554" "00014027" "30" "213" "0" "213" "0" "c.213A>G" "r.(?)" "p.(=)" ""
"0001069085" "00014027" "50" "1776" "0" "1786" "0" "c.1776_1786dup" "r.(?)" "p.(Arg596IlefsTer20)" ""
"0001069279" "00014027" "70" "1085" "0" "1085" "0" "c.1085C>A" "r.(?)" "p.(Ser362Ter)" ""
"0001069367" "00014027" "70" "805" "-2" "805" "-1" "c.805-2_805-1del" "r.spl" "p.?" ""
"0001070042" "00014027" "50" "316" "0" "316" "0" "c.316A>C" "r.(?)" "p.(Thr106Pro)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 33
"{{screeningid}}" "{{variantid}}"
"0000036344" "0000063469"
"0000036345" "0000063470"
"0000036346" "0000063471"
"0000036347" "0000063472"
"0000036348" "0000063473"
"0000036349" "0000063474"
"0000036350" "0000063475"
"0000036351" "0000063476"
"0000036352" "0000063477"
"0000036353" "0000063478"
"0000036354" "0000063479"
"0000036355" "0000063480"
"0000036356" "0000063481"
"0000152748" "0000351583"
"0000152749" "0000351584"
"0000152750" "0000351585"
"0000152751" "0000351586"
"0000152752" "0000351587"
"0000152753" "0000351588"
"0000152754" "0000351589"
"0000152755" "0000351590"
"0000152756" "0000351591"
"0000152757" "0000351592"
"0000152758" "0000351593"
"0000219445" "0000454301"
"0000291732" "0000648421"
"0000375599" "0000786950"
"0000399748" "0000832421"
"0000399993" "0000832698"
"0000474687" "0001069085"
"0000474881" "0001069279"
"0000474969" "0001069367"
"0000475650" "0001070042"