### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MMP2) # 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}}" "MMP2" "matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)" "16" "q13-q21" "unknown" "NG_008989.1" "UD_132084479616" "" "https://www.LOVD.nl/MMP2" "" "1" "7166" "4313" "120360" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/MMP2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-03-20 09:20:29" "00006" "2025-11-23 16:15:27" ## 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}}" "00025396" "MMP2" "transcript variant 1" "001" "NM_004530.4" "" "NP_004521.1" "" "" "" "-311" "3215" "1983" "55513081" "55540586" "00008" "2019-04-09 13:31:06" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "01990" "MONA" "osteolysis, multicentric, nodulosis, and arthropathy" "AR" "259600" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04254" "CLP" "cleft lip, cleft palate (CLP)" "" "" "" "" "" "00006" "2015-05-08 09:59:28" "00006" "2015-05-08 10:00:15" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "MMP2" "01990" ## Individuals ## Do not remove or alter this header ## ## Count = 14 "{{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}}" "00106674" "" "" "" "1" "" "02137" "" "non Hispanic white and Hispanic families" "?" "no" "United States" "" "0" "" "" "" "" "00106675" "" "" "" "1" "" "02137" "" "non Hispanic white and Hispanic families" "?" "no" "United States" "" "0" "" "" "" "" "00106676" "" "" "" "1" "" "02137" "" "non Hispanic white and Hispanic families" "?" "no" "United States" "" "0" "" "" "" "" "00229667" "" "" "" "1" "" "02131" "" "" "F" "yes" "Brazil" "" "0" "" "" "" "" "00291490" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291491" "" "" "" "225" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00303633" "" "" "" "2" "" "00006" "{PMID:Makrythanasis 2014:25044680}" "family, 2 affected" "" "yes" "Egypt" "" "0" "" "" "" "Family_49" "00304518" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00331514" "" "" "" "2" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family, 2 affected (2F)" "F" "yes" "" "" "0" "" "" "Arab" "14DG1052 , 14DG1075" "00434105" "" "" "" "1" "" "03312" "" "" "" "yes" "Pakistan" "" "" "" "" "" "" "00469876" "" "" "" "1" "" "00006" "{PMID:Mamadapur 2024: 39463871}, {DOI:Mamadapur 2024:10.31138/mjr.311203.mon}, {PMID:Jacob 2025:39706863}" "3-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "India" "" "0" "" "" "" "Pat1" "00469877" "" "" "" "1" "" "00006" "{PMID:Jacob 2025:39706863}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "India" "" "0" "" "" "" "" "00469928" "" "" "" "2" "" "00006" "{PMID:Mamadapur 2024: 39463871}, {DOI:Mamadapur 2024:10.31138/mjr.311203.mon}" "2-generation family, 2 affected sisters; unaffected parents" "F" "" "India" "" "0" "" "" "" "Pat2" "00469929" "" "" "00469928" "1" "" "00006" "{PMID:Mamadapur 2024: 39463871}, {DOI:Mamadapur 2024:10.31138/mjr.311203.mon}" "sister" "F" "" "India" "" "0" "" "" "" "FamPat3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 14 "{{individualid}}" "{{diseaseid}}" "00106674" "04254" "00106675" "04254" "00106676" "04254" "00229667" "01990" "00291490" "00198" "00291491" "00198" "00303633" "00198" "00304518" "00198" "00331514" "05517" "00434105" "01990" "00469876" "05517" "00469877" "05517" "00469928" "05517" "00469929" "05517" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01990, 04254, 05517 ## Count = 7 "{{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}}" "0000172890" "01990" "00229667" "02131" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000230697" "00198" "00303633" "00006" "Familial, autosomal recessive" "" "see paper; ..., skeletal dysplasia" "" "" "" "" "" "" "" "" "" "skeletal dysplasia" "" "0000249706" "05517" "00331514" "00000" "Familial, autosomal recessive" "" "Contractures of the joints of the upper limbs, Osteopenia, Scoliosis" "" "" "" "" "" "" "" "" "Osteolysis group" "skeletal dysplasia" "" "0000355021" "05517" "00469876" "00006" "Familial, autosomal recessive" "12y" "subcutaneous nodules, skin lesions, hyperpigmentation; no hirsutism; coarse face; ; bulbous nose; no gingival hypertrophy; osteolysis of carpal/tarsal bones, osteolysis phalangeal joints; osteoporosis/osteopenia; wide metacarpals/metatarsals; joint contractures; joint swelling; no joint stiffness; joint pain; loss of joint space; no congenital heart defects; camptodactyly, subluxation 1–5 MTP joints, ankylosis carpal bones" "07y" "" "" "" "" "" "" "" "MONA" "skeletal dysplasia" "" "0000355022" "05517" "00469877" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MONA" "skeletal dysplasia" "" "0000355073" "05517" "00469928" "00006" "Familial, autosomal recessive" "12y" "see paper; ..., subcutaneous nodules, no skin lesions, no hyperpigmentation; hirsutism; no coarse face; no corneal opacity; bulbous nose; no gingival hypertrophy; osteolysis of carpal/tarsal bones, osteolysis phalangeal joints; osteoporosis/osteopenia; no wide metacarpals/metatarsals; joint contractures; joint swelling; no joint stiffness; joint pain; loss of joint space; no congenital heart defects; subcutaneous swelling over both feet" "03y" "" "" "" "" "" "" "" "MONA" "skeletal dysplasia" "" "0000355074" "05517" "00469929" "00006" "Familial, autosomal recessive" "17y" "see paper; ..., subcutaneous nodules, no skin lesions, no hyperpigmentation; hirsutism; no coarse face; no corneal opacity; bulbous nose; no gingival hypertrophy; osteolysis of carpal/tarsal bones, osteolysis phalangeal joints; osteoporosis/osteopenia; no wide metacarpals/metatarsals; joint contractures; joint swelling; no joint stiffness; joint pain; loss of joint space; no congenital heart defects; subcutaneous swelling over both feet" "03y" "" "" "" "" "" "" "" "mo" "skeletal dysplasia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000107145" "00106674" "1" "02137" "02137" "2017-07-07 16:11:07" "" "" "TaqMan" "DNA" "blood or saliva" "" "0000107146" "00106675" "1" "02137" "02137" "2017-07-07 16:11:07" "" "" "TaqMan" "DNA" "blood or saliva" "" "0000107147" "00106676" "1" "02137" "02137" "2017-07-07 16:11:07" "" "" "TaqMan" "DNA" "blood or saliva" "" "0000230760" "00229667" "1" "02131" "02131" "2012-07-18 11:27:37" "02131" "2012-07-31 08:07:23" "SEQ" "DNA" "" "" "0000292658" "00291490" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292659" "00291491" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000304761" "00303633" "1" "00006" "00006" "2020-06-17 11:20:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000305647" "00304518" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000332733" "00331514" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000435572" "00434105" "1" "03312" "03312" "2023-03-20 05:26:29" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000471544" "00469876" "1" "00006" "00006" "2025-11-20 12:33:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000471545" "00469877" "1" "00006" "00006" "2025-11-20 12:33:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000471596" "00469928" "1" "00006" "00006" "2025-11-23 14:55:22" "" "" "SEQ" "DNA" "" "" "0000471597" "00469929" "1" "00006" "00006" "2025-11-23 16:14:32" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{geneid}}" "0000107145" "MMP2" "0000107146" "MMP2" "0000107147" "MMP2" "0000230760" "MMP2" "0000304761" "MMP2" "0000332733" "MMP2" "0000435572" "MMP2" "0000471596" "MMP2" "0000471597" "MMP2" ## 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 = 34 "{{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}}" "0000172914" "0" "50" "16" "55523705" "55523705" "subst" "0.837618" "02137" "MMP2_000002" "g.55523705T>C" "1/2608 cases" "" "" "" "" "Germline" "?" "" "0" "" "" "g.55489793T>C" "" "VUS" "" "0000172915" "0" "50" "16" "55534236" "55534236" "subst" "0" "02137" "MMP2_000003" "g.55534236G>A" "1/2608 cases" "" "" "" "" "Germline" "?" "" "0" "" "" "g.55500324G>A" "" "VUS" "" "0000172916" "0" "50" "16" "55539614" "55539614" "subst" "0" "02137" "MMP2_000004" "g.55539614A>C" "1/2608 cases" "" "" "" "" "Germline" "?" "" "0" "" "" "g.55505702A>C" "" "VUS" "" "0000282556" "0" "10" "16" "55523705" "55523705" "subst" "0.837618" "02325" "MMP2_000002" "g.55523705T>C" "" "" "" "MMP2(NM_004530.6):c.1149T>C (p.D383=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55489793T>C" "" "benign" "" "0000282557" "0" "10" "16" "55536727" "55536727" "subst" "0.398469" "02325" "MMP2_000007" "g.55536727C>T" "" "" "" "MMP2(NM_004530.6):c.1806C>T (p.F602=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55502815C>T" "" "benign" "" "0000324789" "0" "30" "16" "55530864" "55530864" "subst" "0.00121089" "01804" "MMP2_000006" "g.55530864G>A" "" "" "" "MMP2(NM_001127891.1):c.1349G>A (p.(Arg450His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55496952G>A" "" "likely benign" "" "0000338389" "0" "10" "16" "55513331" "55513331" "subst" "0" "02327" "MMP2_000009" "g.55513331G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55479419G>C" "" "benign" "" "0000338391" "0" "10" "16" "55519701" "55519701" "subst" "0.0405349" "02327" "MMP2_000011" "g.55519701C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55485789C>T" "" "benign" "" "0000338392" "0" "10" "16" "55536687" "55536687" "subst" "0.487335" "02327" "MMP2_000013" "g.55536687A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55502775A>G" "" "benign" "" "0000340240" "0" "10" "16" "55523705" "55523705" "subst" "0.837618" "02327" "MMP2_000002" "g.55523705T>C" "" "" "" "MMP2(NM_004530.6):c.1149T>C (p.D383=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55489793T>C" "" "benign" "" "0000340241" "0" "10" "16" "55527113" "55527113" "subst" "0.393617" "02327" "MMP2_000012" "g.55527113G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55493201G>A" "" "benign" "" "0000340780" "0" "10" "16" "55519535" "55519535" "subst" "0.305898" "02327" "MMP2_000010" "g.55519535G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55485623G>C" "" "benign" "" "0000340887" "0" "10" "16" "55536727" "55536727" "subst" "0.398469" "02327" "MMP2_000007" "g.55536727C>T" "" "" "" "MMP2(NM_004530.6):c.1806C>T (p.F602=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55502815C>T" "" "benign" "" "0000472379" "3" "75" "16" "55519548" "55519548" "subst" "0" "02131" "MMP2_000001" "g.55519548G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.55485636G>T" "" "likely pathogenic" "" "0000558471" "0" "30" "16" "55525759" "55525759" "subst" "0.00138487" "01804" "MMP2_000014" "g.55525759G>A" "" "" "" "MMP2(NM_001127891.1):c.1077G>A (p.(Met359Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55491847G>A" "" "likely benign" "" "0000558472" "0" "30" "16" "55527073" "55527073" "subst" "0.00251177" "01804" "MMP2_000015" "g.55527073C>T" "" "" "" "MMP2(NM_001127891.1):c.1190C>T (p.(Ala397Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55493161C>T" "" "likely benign" "" "0000649347" "1" "90" "16" "55516932" "55516932" "del" "0" "03575" "MMP2_000017" "g.55516932del" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs794727275}" "Germline" "" "rs794727275" "0" "" "" "g.55483020del" "" "pathogenic" "" "0000649348" "1" "30" "16" "55539513" "55539513" "subst" "0" "03575" "MMP2_000018" "g.55539513T>C" "225/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "225 heterozygous; {DB:CLININrs17860019}" "Germline" "" "rs17860019" "0" "" "" "g.55505601T>C" "" "likely benign" "" "0000668265" "3" "90" "16" "55519219" "55519219" "subst" "0" "00006" "MMP2_000019" "g.55519219G>A" "" "{PMID:Makrythanasis 2014:25044680}" "" "" "" "Germline" "" "" "0" "" "" "g.55485307G>A" "" "pathogenic (recessive)" "" "0000669335" "3" "30" "16" "55539513" "55539513" "subst" "0" "03575" "MMP2_000018" "g.55539513T>C" "7/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 homozygous; {DB:CLININrs17860019}" "Germline" "" "rs17860019" "0" "" "" "g.55505601T>C" "" "likely benign" "" "0000725842" "0" "30" "16" "55536723" "55536723" "subst" "0.000495665" "01804" "MMP2_000020" "g.55536723G>T" "" "" "" "MMP2(NM_001127891.1):c.1652G>T (p.(Gly551Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000730015" "3" "90" "16" "55519219" "55519219" "subst" "0" "00000" "MMP2_000019" "g.55519219G>A" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_004530.4:c.538G>A:p.(Asp180Asn)" "" "Germline" "" "" "0" "" "" "g.55485307G>A" "" "pathogenic (recessive)" "" "0000807449" "0" "50" "16" "55523655" "55523655" "subst" "4.06114E-5" "01804" "MMP2_000021" "g.55523655G>A" "" "" "" "MMP2(NM_001127891.1):c.949G>A (p.(Gly317Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854549" "0" "30" "16" "55518043" "55518043" "subst" "0.00188832" "01804" "MMP2_000023" "g.55518043G>A" "" "" "" "MMP2(NM_001127891.1):c.346G>A (p.(Glu116Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864841" "0" "50" "16" "55516929" "55516929" "subst" "4.06058E-6" "01943" "MMP2_000022" "g.55516929G>A" "" "" "" "MMP2(NM_004530.5):c.262G>A (p.D88N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864842" "0" "50" "16" "55519612" "55519612" "subst" "2.84255E-5" "01804" "MMP2_000024" "g.55519612G>A" "" "" "" "MMP2(NM_001127891.1):c.605G>A (p.(Arg202His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864843" "0" "30" "16" "55530913" "55530913" "subst" "4.062E-6" "01943" "MMP2_000025" "g.55530913C>A" "" "" "" "MMP2(NM_004530.5):c.1548C>A (p.L516=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864844" "0" "30" "16" "55536748" "55536748" "subst" "4.06316E-6" "01943" "MMP2_000026" "g.55536748C>G" "" "" "" "MMP2(NM_004530.5):c.1827C>G (p.A609=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000921592" "3" "70" "16" "55525870" "55525870" "subst" "1.63712E-5" "03312" "MMP2_000027" "g.55525870T>G" "" "" "" "" "" "Germline" "yes" "rs746668134" "0" "" "" "g.55491958T>G" "" "likely pathogenic" "ACMG" "0000968399" "0" "30" "16" "55536779" "55536779" "subst" "0.000700086" "01804" "MMP2_000028" "g.55536779G>A" "" "" "" "MMP2(NM_004530.4):c.1858G>A (p.(Val620Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001059692" "3" "70" "16" "55516968" "55516968" "subst" "1.21849E-5" "00006" "MMP2_000029" "g.55516968C>T" "" "{PMID:Mamadapur 2024: 39463871}, {DOI:Mamadapur 2024:10.31138/mjr.311203.mon}, {PMID:Jacob 2025:39706863}" "" "" "" "Germline" "" "" "0" "" "" "g.55483056C>T" "SCV002074132.1" "likely pathogenic (recessive)" "" "0001059693" "3" "70" "16" "55522532" "55522538" "del" "0" "00006" "MMP2_000031" "g.55522532_55522538del" "" "{PMID:Jacob 2025:39706863}" "" "" "" "Germline" "" "" "0" "" "" "g.55488620_55488626del" "SCV002053727.2" "likely pathogenic (recessive)" "" "0001059812" "3" "90" "16" "55517047" "55517047" "subst" "4.09698E-6" "00006" "MMP2_000030" "g.55517047G>A" "" "{PMID:Mamadapur 2024: 39463871}, {DOI:Mamadapur 2024:10.31138/mjr.311203.mon}" "" "" "" "Germline" "yes" "" "0" "" "" "g.55483135G>A" "" "pathogenic (recessive)" "" "0001059813" "3" "90" "16" "55517047" "55517047" "subst" "4.09698E-6" "00006" "MMP2_000030" "g.55517047G>A" "" "{PMID:Mamadapur 2024: 39463871}, {DOI:Mamadapur 2024:10.31138/mjr.311203.mon}" "" "" "" "Germline" "yes" "" "0" "" "" "g.55483135G>A" "" "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 MMP2 ## Count = 34 "{{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}}" "0000172914" "00025396" "50" "1149" "0" "1149" "0" "c.1149T>C" "r.(?)" "p.(=)" "" "0000172915" "00025396" "50" "1769" "1876" "1769" "1876" "c.1769+1876G>A" "r.(?)" "p.(=)" "" "0000172916" "00025396" "50" "2243" "0" "2243" "0" "c.*260A>C" "r.(?)" "p.(=)" "" "0000282556" "00025396" "10" "1149" "0" "1149" "0" "c.1149T>C" "r.(?)" "p.(Asp383=)" "" "0000282557" "00025396" "10" "1806" "0" "1806" "0" "c.1806C>T" "r.(?)" "p.(Phe602=)" "" "0000324789" "00025396" "30" "1499" "0" "1499" "0" "c.1499G>A" "r.(?)" "p.(Arg500His)" "" "0000338389" "00025396" "10" "-61" "0" "-61" "0" "c.-61G>C" "r.(?)" "p.(=)" "" "0000338391" "00025396" "10" "832" "12" "832" "12" "c.832+12C>T" "r.(=)" "p.(=)" "" "0000338392" "00025396" "10" "1770" "-4" "1770" "-4" "c.1770-4A>G" "r.spl?" "p.?" "" "0000340240" "00025396" "10" "1149" "0" "1149" "0" "c.1149T>C" "r.(?)" "p.(Asp383=)" "" "0000340241" "00025396" "10" "1380" "0" "1380" "0" "c.1380G>A" "r.(?)" "p.(Thr460=)" "" "0000340780" "00025396" "10" "678" "0" "678" "0" "c.678G>C" "r.(?)" "p.(Gly226=)" "" "0000340887" "00025396" "10" "1806" "0" "1806" "0" "c.1806C>T" "r.(?)" "p.(Phe602=)" "" "0000472379" "00025396" "75" "691" "0" "691" "0" "c.691G>T" "r.(?)" "p.Glu231*" "?" "0000558471" "00025396" "30" "1227" "0" "1227" "0" "c.1227G>A" "r.(?)" "p.(Met409Ile)" "" "0000558472" "00025396" "30" "1340" "0" "1340" "0" "c.1340C>T" "r.(?)" "p.(Ala447Val)" "" "0000649347" "00025396" "90" "265" "0" "265" "0" "c.265del" "r.(?)" "p.(Asp90Thrfs*65)" "" "0000649348" "00025396" "30" "2142" "0" "2142" "0" "c.*159T>C" "r.(=)" "p.(=)" "" "0000668265" "00025396" "90" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Asp180Asn)" "" "0000669335" "00025396" "30" "2142" "0" "2142" "0" "c.*159T>C" "r.(=)" "p.(=)" "" "0000725842" "00025396" "30" "1802" "0" "1802" "0" "c.1802G>T" "r.(?)" "p.(Gly601Val)" "" "0000730015" "00025396" "90" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Asp180Asn)" "" "0000807449" "00025396" "50" "1099" "0" "1099" "0" "c.1099G>A" "r.(?)" "p.(Gly367Ser)" "" "0000854549" "00025396" "30" "496" "0" "496" "0" "c.496G>A" "r.(?)" "p.(Glu166Lys)" "" "0000864841" "00025396" "50" "262" "0" "262" "0" "c.262G>A" "r.(?)" "p.(Asp88Asn)" "" "0000864842" "00025396" "50" "755" "0" "755" "0" "c.755G>A" "r.(?)" "p.(Arg252His)" "" "0000864843" "00025396" "30" "1548" "0" "1548" "0" "c.1548C>A" "r.(?)" "p.(Leu516=)" "" "0000864844" "00025396" "30" "1827" "0" "1827" "0" "c.1827C>G" "r.(?)" "p.(Ala609=)" "" "0000921592" "00025396" "70" "1336" "2" "1336" "2" "c.1336+2T>G" "r.spl" "p.?" "" "0000968399" "00025396" "30" "1858" "0" "1858" "0" "c.1858G>A" "r.(?)" "p.(Val620Ile)" "" "0001059692" "00025396" "70" "301" "0" "301" "0" "c.301C>T" "r.(?)" "p.(Arg101Cys)" "" "0001059693" "00025396" "70" "910" "0" "916" "0" "c.910_916del" "r.(?)" "p.(Ser304ProfsTer115)" "" "0001059812" "00025396" "90" "380" "0" "380" "0" "c.380G>A" "r.(?)" "p.(Arg127Lys)" "2" "0001059813" "00025396" "90" "380" "0" "380" "0" "c.380G>A" "r.(?)" "p.(Arg127Lys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{variantid}}" "0000107145" "0000172914" "0000107146" "0000172915" "0000107147" "0000172916" "0000230760" "0000472379" "0000292658" "0000649347" "0000292659" "0000649348" "0000304761" "0000668265" "0000305647" "0000669335" "0000332733" "0000730015" "0000435572" "0000921592" "0000471544" "0001059692" "0000471545" "0001059693" "0000471596" "0001059812" "0000471597" "0001059813"