### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = COL12A1) # 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}}" "COL12A1" "collagen, type XII, alpha 1" "6" "q12-q13" "unknown" "NG_042181.1" "UD_132465126136" "" "https://www.LOVD.nl/COL12A1" "" "1" "2188" "1303" "120320" "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/COL12A1_codingDNA.html" "1" "" "

Ehlers Danlos Syndrome Variant Database

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" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00085" "2024-02-13 14:10:42" "00006" "2025-11-07 14:42:36" ## 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}}" "00005487" "COL12A1" "transcript variant long" "002" "NM_004370.5" "" "NP_004361.3" "" "" "" "-166" "11413" "9192" "75915623" "75794042" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00169" "EDS" "Ehlers-Danlos syndrome (EDS)" "" "" "" "" "" "00006" "2013-08-01 11:03:44" "00006" "2021-12-10 21:51:32" "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" "00360" "MDC" "dystrophy, muscular, congenital (MDC)" "" "" "" "" "" "00006" "2014-03-21 23:02:36" "00006" "2018-07-03 16:30:02" "04224" "STL" "Stickler syndrome (STL)" "" "" "" "" "" "00006" "2015-03-13 12:21:54" "" "" "04421" "UCMD2" "dystrophy, muscular, congenital, Ullrich, type 2?, (UCMD-2)" "" "616470" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" "04422" "BTHLM2" "myopathy, Bethlem, type 2 (BTHLM-2)" "AD" "616471" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" "05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" "" "05324" "DMD" "dystrophy, muscular, Duchenne type (DMD)" "XLR" "310200" "" "" "" "00006" "2017-09-01 17:41:21" "00006" "2021-12-10 21:51:32" "05358" "BTHLM" "myopathy, Bethlem (BTHLM)" "" "" "" "" "" "00006" "2017-12-28 09:26:43" "" "" "05568" "KCTN1" "keratoconus, type 1 (KTCN-1)" "AD" "148300" "" "" "" "00006" "2019-02-14 12:42:52" "00006" "2021-12-10 21:51:32" "05618" "NMD" "neuromuscular disorder (NMD)" "" "" "" "" "" "00006" "2019-07-02 19:46:12" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "COL12A1" "04421" "COL12A1" "04422" "COL12A1" "05358" ## Individuals ## Do not remove or alter this header ## ## Count = 51 "{{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}}" "00050621" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected parents" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00207941" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00208534" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00265910" "" "" "" "1" "" "00006" "{PMID:O\'Grady 2016:27159402}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat81" "00289426" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00294191" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294194" "" "" "" "10" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294198" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294200" "" "" "" "37" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294201" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294202" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295921" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00305115" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305116" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00314143" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00374696" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-929" "00392008" "" "" "" "1" "" "03501" "{PMID:Karthikeyan 2024:39548682}" "" "M" "yes" "India" "" "0" "yes" "" "" "MDCRC/1867/DBI-1509" "00392748" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "188497" "00417031" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417036" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417045" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417070" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417076" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417084" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417092" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417094" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417108" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417110" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417116" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417126" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00417133" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "0" "" "" "" "" "00431788" "" "" "" "1" "" "04136" "Leone 2023, submitted" "" "" "" "Italy" "" "0" "" "" "" "P-0148" "00431794" "" "" "" "1" "" "04136" "Leone 2023, submitted" "" "" "" "Italy" "" "0" "" "" "" "P-0154" "00431796" "" "" "" "1" "" "04136" "Leone 2023, submitted" "" "" "" "Italy" "" "0" "" "" "" "P-0156" "00431804" "" "" "" "1" "" "04136" "Leone 2023, submitted" "" "" "" "Italy" "" "0" "" "" "" "P-0164" "00431808" "" "" "" "1" "" "04136" "Leone 2023, submitted" "" "" "" "Italy" "" "0" "" "" "" "P-0168" "00431818" "" "" "" "1" "" "04136" "Leone 2023, submitted" "" "" "" "Italy" "" "0" "" "" "" "P-0179" "00431822" "" "" "" "1" "" "04136" "Leone 2023, submitted" "" "" "" "Italy" "" "0" "" "" "" "P-0183" "00431826" "" "" "" "1" "" "04136" "Leone 2023, submitted" "" "" "" "Italy" "" "0" "" "" "" "P-0187" "00431827" "" "" "" "1" "" "04136" "Leone 2023, submitted" "" "" "" "Italy" "" "0" "" "" "" "P-0188" "00431829" "" "" "" "1" "" "04136" "Leone 2023, submitted" "" "" "" "Italy" "" "0" "" "" "" "P-0190" "00434893" "" "" "" "1" "" "04419" "{PMID:Fransen et al., 2021:33737726}" "34 candidate genes targeted from 787 independent keratoconus patients and 856 ethnically matched controls, including results from unpublished studies and literature search. 7 patients with EDS gene variants." "?" "?" "Belgium" "" "" "" "" "" "1" "00442642" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "F" "" "" "" "0" "" "" "" "Pat14" "00442643" "" "" "" "2" "" "00006" "{PMID:Westra 2019:31127727}" "family, several affected" "M" "" "" "" "0" "" "" "" "Pat15" "00442720" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "M" "" "" "" "0" "" "" "" "Pat92" "00442721" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "M" "" "" "" "0" "" "" "" "Pat93" "00442783" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "M" "" "" "" "0" "" "" "" "Pat155" "00457300" "" "" "" "1" "" "04693" "{PMID:İpek 2024:39129837}" "" "F" "yes" "Turkey" "" "" "" "" "" "" "00457407" "" "" "" "1" "" "04693" "{PMID:El Sherif 2024:39087360}" "Muscle biopsy showed mild to moderate endomysial fibrosis and absent staining in collagen XII." "F" "yes" "(Egypt)" "" "" "" "" "" "" "00468234" "" "" "" "1" "" "00006" "{PMID:Ayala-Ramirez 2025:41066171}" "patient" "M" "" "Colombia" "" "0" "" "" "" "Pat177" "00468243" "" "" "" "1" "" "00006" "{PMID:Ayala-Ramirez 2025:41066171}" "patient" "M" "" "Colombia" "" "0" "" "" "" "Pat198" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 50 "{{individualid}}" "{{diseaseid}}" "00050621" "00198" "00265910" "00360" "00289426" "00198" "00294191" "00198" "00294194" "00198" "00294198" "00198" "00294200" "00198" "00294201" "00198" "00294202" "00198" "00295921" "00198" "00305115" "00198" "00305116" "00198" "00314143" "05126" "00374696" "00198" "00392008" "05324" "00392748" "05358" "00417031" "00198" "00417036" "00198" "00417045" "00198" "00417070" "00198" "00417076" "00198" "00417084" "00198" "00417092" "00169" "00417094" "00198" "00417108" "00198" "00417110" "00198" "00417116" "00169" "00417126" "00198" "00417133" "00198" "00431788" "04224" "00431794" "00198" "00431796" "00198" "00431804" "00198" "00431808" "00198" "00431818" "00198" "00431822" "00198" "00431826" "00198" "00431827" "00198" "00431829" "00198" "00434893" "00169" "00434893" "05568" "00442642" "05618" "00442643" "05618" "00442720" "05618" "00442721" "05618" "00442783" "05618" "00457300" "04421" "00457407" "04422" "00468234" "00244" "00468243" "00244" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00169, 00198, 00244, 00360, 04224, 04421, 04422, 05126, 05324, 05358, 05568, 05618 ## Count = 43 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Hearing/Problems}}" "{{Phenotype/Enzyme/CreatineKinase}}" "{{Phenotype/Muscle/Electromyography}}" "{{Phenotype/Muscle/Biopsy}}" "{{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}}" "0000037233" "00198" "00050621" "00006" "Unknown" "" "global developmental delay, aggressive behavior, restrictive behavior, microcephaly, abnormal facial shape, macrotia, abnormality of eye movement" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155713" "00198" "00207941" "01164" "Unknown" "" "HP:0003236 (Elevated serum creatine phosphokinase); HP:0011805 (Abnormality of muscle morphology); HP:0040081 (Abnormal levels of creatine kinase in blood); HP:0009045 (Exercise-induced rhabdomyolysis)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157207" "00198" "00208534" "01164" "Unknown" "" "HP:0010549 (Weakness due to upper motor neuron dysfunction); HP:0003236 (Elevated serum creatine phosphokinase)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000203687" "00360" "00265910" "00006" "Familial, autosomal dominant" "13y" "infantile hypotonia, arthrogryposis, congenital hip dysplasia, gross motor delay, contractures, hypermobility, scoliosis; 3y-walking" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000223038" "00198" "00289426" "01807" "Unknown" "" "Abnormality of hand joint mobility (HP:0006256); Myopathy (HP:0003198); Muscular dystrophy (HP:0003560)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000223397" "00198" "00295921" "01164" "Unknown" "" "Abnormal pyramidal signs (HP:0007256); Split hand (HP:0001171); Scapular winging (HP:0003691); Gait disturbance (HP:0001288); Hypoplasia of the corpus callosum (HP:0002079); Foot dorsiflexor weakness (HP:0009027)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000269906" "00198" "00374696" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000285298" "05324" "00392008" "03501" "Unknown" "14y" "proximal muscle weakness (HP:0003701)" "10y" "" "" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "DMD" "" "0000285995" "05358" "00392748" "01164" "Unknown" "" "Global developmental delay, Delayed ability to walk, Motor delay, Delayed gross motor development" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000308541" "00198" "00417031" "02544" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "soft connective tissue disorder" "" "0000308546" "00198" "00417036" "02544" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "soft connective tissue disorder" "" "0000308555" "00198" "00417045" "02544" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "soft connective tissue disorder" "" "0000308580" "00198" "00417070" "02544" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "soft connective tissue disorder" "" "0000308586" "00198" "00417076" "02544" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "soft connective tissue disorder" "" "0000308594" "00198" "00417084" "02544" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "soft connective tissue disorder" "" "0000308602" "00169" "00417092" "02544" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "myopathic Ehlers-Danlos syndrome" "" "0000308604" "00198" "00417094" "02544" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "soft connective tissue disorder" "" "0000308618" "00198" "00417108" "02544" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "soft connective tissue disorder" "" "0000308620" "00198" "00417110" "02544" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "soft connective tissue disorder" "" "0000308626" "00169" "00417116" "02544" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "myopathic Ehlers-Danlos syndrome" "" "0000308636" "00198" "00417126" "02544" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "soft connective tissue disorder" "" "0000308643" "00198" "00417133" "02544" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "soft connective tissue disorder" "" "0000322357" "04224" "00431788" "04136" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Stickler syndrome" "" "0000322363" "00198" "00431794" "04136" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "unclassified Mendelian soft connective tissue disorder" "" "0000322365" "00198" "00431796" "04136" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "unclassified Mendelian soft connective tissue disorder" "" "0000322373" "00198" "00431804" "04136" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "unclassified Mendelian soft connective tissue disorder" "" "0000322377" "00198" "00431808" "04136" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "unclassified Mendelian soft connective tissue disorder" "" "0000322387" "00198" "00431818" "04136" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "unclassified Mendelian soft connective tissue disorder" "" "0000322391" "00198" "00431822" "04136" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "unclassified Mendelian soft connective tissue disorder" "" "0000322395" "00198" "00431826" "04136" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "unclassified Mendelian soft connective tissue disorder" "" "0000322396" "00198" "00431827" "04136" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "unclassified Mendelian soft connective tissue disorder" "" "0000322398" "00198" "00431829" "04136" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "unclassified Mendelian soft connective tissue disorder" "" "0000325134" "05568" "00434893" "04419" "Unknown" "" "Diagnosis was based on slit-lamp biomicroscopy and tomographic evaluation of the cornea." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000325135" "00169" "00434893" "04419" "Unknown" "" "Hypermobility, fragile skin, easy bruising." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000331989" "05618" "00442642" "00006" "Familial, autosomal recessive" "" "Arthrogryposis, muscle atrophy, multiple fractures, scoliosis, myalgia in legs, weight loss" "" "" "" "" "" "" "" "" "" "" "" "" "" "arthrogryposis, muscle atrophy" "" "0000331990" "05618" "00442643" "00006" "Familial, autosomal dominant" "13y" "Delayed motor development (walking at 25 months), mild proximal muscle weakness, learning difficulties, scaring of skin; muscle biopsy: hypertrophic fibers; inconclusive EMG result; CK within normal range" "<0d" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital myopathy" "" "0000332067" "05618" "00442720" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Brody syndrome" "" "0000332068" "05618" "00442721" "00006" "Unknown" "" "Myopathy, mild psychomotor retardation, mild dysmorphias" "" "" "" "" "" "" "" "" "" "" "" "" "" "myopathy" "" "0000332130" "05618" "00442783" "00006" "Unknown" "" "Myalgia, fatigue, mild myopathic features in muscle biopsy" "" "" "" "" "" "" "" "" "" "" "" "" "" "Myalgia, fatigue" "" "0000345770" "04421" "00457300" "04693" "Familial, autosomal recessive" "02y10m" "IUGR (HP:0001511); joint hypermobility (HP:0001382); frequent falls (HP:0002359); delayed gross motor development (HP:0002194\r\n); high palate (HP:0000218); distal joint hypermobility (HP:0020152); finger joint contracture (HP:0034681); pes planus (HP:0001763); dry skin (HP:0000958); keratosis pilaris (HP:0032152); limb muscle weakness (HP:0003690)." "00y" "" "" "" "" "02y10m" "IUGR (HP:0001511)" "deepsubs" "" "" "" "" "UCMD2" "" "" "0000345871" "04422" "00457407" "04693" "Familial, autosomal recessive" "00y23m" "Motor delay (HP:0001270); neonatal hypotonia (HP:0001319); decreased fetal movement (HP:0001558); intrauterine growth retardation (HP:0001511); oligohydramnios (HP:0001562); high, narrow palate (HP:0002705); hyperextensible skin (HP:0000974); palmoplantar cutis laxa (HP:0007517); pectus excavatum (HP:0000767); neck muscle weakness (HP:0000467); kyphoscoliosis (HP:0002751); bilateral knee contractures (HP:0034671); distal joint hypermobility (HP:0020152); respiratory insufficiency due to muscle weakness (HP:0002747); pelvic girdle muscle atrophy (HP:0008988); proximal lower limb amyotrophy (HP:0008956); distal lower limb amyotrophy (HP:0008944); soft, doughy skin (HP:0001027)." "00y" "" "" "" "" "00y23m" "Neonatal hypotonia (HP:0001319)" "deepsubs" "" "" "" "" "EHLERS-DANLOS SYNDROME, MYOPATHIC TYPE; EDSMYP" "ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A/1B; UCMD1A/1B" "" "0000353386" "00244" "00468234" "00006" "Unknown" "4y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "myopathy" "" "0000353395" "00244" "00468243" "00006" "Unknown" "1y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "myopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 51 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050566" "00050621" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000208986" "00207941" "1" "01164" "01164" "2018-12-04 16:33:32" "" "" "SEQ-NG" "DNA" "" "" "0000209582" "00208534" "1" "01164" "01164" "2018-12-10 11:04:21" "" "" "SEQ-NG" "DNA" "" "" "0000267030" "00265910" "1" "00006" "00006" "2019-10-11 15:42:04" "" "" "arrayCGH" "DNA" "" "" "0000290596" "00289426" "1" "01807" "01807" "2020-03-09 11:34:08" "" "" "SEQ" "DNA" "" "" "0000295359" "00294191" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295362" "00294194" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295366" "00294198" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295368" "00294200" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295369" "00294201" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295370" "00294202" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297093" "00295921" "1" "01164" "01164" "2020-03-30 10:44:10" "" "" "SEQ-NG-S" "DNA" "" "" "0000306244" "00305115" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306245" "00305116" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000315316" "00314143" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000375890" "00374696" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000393250" "00392008" "1" "03501" "00006" "2021-11-19 15:49:45" "" "" "SEQ-NG" "DNA" "" "screened DMD, COL6A3, COL12A1" "0000393995" "00392748" "1" "01164" "01164" "2021-11-23 17:10:12" "" "" "SEQ-NG-I" "DNA" "" "" "0000418311" "00417031" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418316" "00417036" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418325" "00417045" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418350" "00417070" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418356" "00417076" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418364" "00417084" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418372" "00417092" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418374" "00417094" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418388" "00417108" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418390" "00417110" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418396" "00417116" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418406" "00417126" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000418413" "00417133" "1" "02544" "00006" "2022-09-12 19:16:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000433227" "00431788" "1" "04136" "00006" "2023-02-16 14:19:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000433233" "00431794" "1" "04136" "00006" "2023-02-16 14:19:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000433235" "00431796" "1" "04136" "00006" "2023-02-16 14:19:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000433243" "00431804" "1" "04136" "00006" "2023-02-16 14:19:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000433247" "00431808" "1" "04136" "00006" "2023-02-16 14:19:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000433257" "00431818" "1" "04136" "00006" "2023-02-16 14:19:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000433261" "00431822" "1" "04136" "00006" "2023-02-16 14:19:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000433265" "00431826" "1" "04136" "00006" "2023-02-16 14:19:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000433266" "00431827" "1" "04136" "00006" "2023-02-16 14:19:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000433268" "00431829" "1" "04136" "00006" "2023-02-16 14:19:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000436366" "00434893" "1" "04419" "04419" "2023-04-11 02:48:02" "" "" "MIP;SEQ-NG-I" "DNA" "Peripheral blood" "WES analysis on 22 families, 1-5 individuals/family" "0000444126" "00442642" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444127" "00442643" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444204" "00442720" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ-NG" "DNA" "" "WES" "0000444205" "00442721" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ-NG" "DNA" "" "WES" "0000444267" "00442783" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ-NG" "DNA" "" "WES" "0000458921" "00457300" "1" "04693" "04693" "2024-11-06 08:33:02" "" "" "SEQ-NG-I" "DNA" "" "Whole exome sequencing" "0000459028" "00457407" "1" "04693" "04693" "2024-11-11 12:33:48" "" "" "SEQ-NG" "DNA" "" "Whole genome sequencing" "0000469900" "00468234" "1" "00006" "00006" "2025-11-07 14:41:52" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000469909" "00468243" "1" "00006" "00006" "2025-11-07 14:41:52" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000267030" "COL12A1" "0000315316" "COL12A1" "0000375890" "COL12A1" "0000393995" "COL12A1" "0000436366" "COL12A1" ## 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 = 252 "{{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}}" "0000079546" "21" "90" "6" "73709065" "76815249" "del" "0" "00006" "KHDC3L_000005" "g.73709065_76815249del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000246445" "0" "10" "6" "75841722" "75841722" "subst" "0.886678" "02330" "COL12A1_000022" "g.75841722A>T" "" "" "" "COL12A1(NM_004370.6):c.5871T>A (p.A1957=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75132006A>T" "" "benign" "" "0000246446" "0" "10" "6" "75848181" "75848181" "subst" "0.263682" "02330" "COL12A1_000028" "g.75848181A>G" "" "" "" "COL12A1(NM_004370.6):c.5213T>C (p.I1738T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75138465A>G" "" "benign" "" "0000250075" "0" "10" "6" "75841722" "75841722" "subst" "0.886678" "02329" "COL12A1_000022" "g.75841722A>T" "" "" "" "COL12A1(NM_004370.6):c.5871T>A (p.A1957=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75132006A>T" "" "benign" "" "0000250076" "0" "10" "6" "75848181" "75848181" "subst" "0.263682" "02329" "COL12A1_000028" "g.75848181A>G" "" "" "" "COL12A1(NM_004370.6):c.5213T>C (p.I1738T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75138465A>G" "" "benign" "" "0000250104" "0" "10" "6" "75875434" "75875434" "subst" "0.00614754" "02329" "COL12A1_000033" "g.75875434A>G" "" "" "" "COL12A1(NM_004370.6):c.2772T>C (p.Y924=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75165718A>G" "" "benign" "" "0000250170" "0" "10" "6" "75798852" "75798852" "subst" "0.00378018" "02329" "COL12A1_000003" "g.75798852A>G" "" "" "" "COL12A1(NM_004370.6):c.8980T>C (p.S2994P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75089136A>G" "" "benign" "" "0000250214" "0" "10" "6" "75887366" "75887366" "subst" "0.00213043" "02329" "COL12A1_000035" "g.75887366A>G" "" "" "" "COL12A1(NM_004370.6):c.2437+13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75177650A>G" "" "benign" "" "0000250215" "0" "10" "6" "75890946" "75890946" "del" "0" "02329" "COL12A1_000042" "g.75890946del" "" "" "" "COL12A1(NM_004370.6):c.1892-7delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75181230del" "" "benign" "" "0000250290" "0" "30" "6" "75899437" "75899437" "subst" "1.62718E-5" "02329" "COL12A1_000046" "g.75899437A>G" "" "" "" "COL12A1(NM_004370.6):c.489T>C (p.I163=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75189721A>G" "" "likely benign" "" "0000250349" "0" "30" "6" "75848180" "75848180" "subst" "0" "02329" "COL12A1_000027" "g.75848180A>C" "" "" "" "COL12A1(NM_004370.6):c.5214T>G (p.I1738M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75138464A>C" "" "likely benign" "" "0000250398" "0" "30" "6" "75814950" "75814950" "subst" "0.00961093" "02329" "COL12A1_000008" "g.75814950A>G" "" "" "" "COL12A1(NM_004370.5):c.8237T>C (p.(Val2746Ala)), COL12A1(NM_004370.6):c.8237T>C (p.V2746A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75105234A>G" "" "likely benign" "" "0000264762" "0" "10" "6" "75834971" "75834971" "subst" "0.0342773" "02330" "COL12A1_000017" "g.75834971T>A" "" "" "" "COL12A1(NM_004370.6):c.6479A>T (p.E2160V, p.(Glu2160Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75125255T>A" "" "benign" "" "0000264764" "0" "30" "6" "75823478" "75823482" "del" "0" "02330" "COL12A1_000011" "g.75823478_75823482del" "" "" "" "COL12A1(NM_004370.6):c.7698-19_7698-15delCTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75113762_75113766del" "" "likely benign" "" "0000264765" "0" "30" "6" "75797391" "75797391" "subst" "0.00403396" "02330" "COL12A1_000002" "g.75797391C>T" "" "" "" "COL12A1(NM_004370.5):c.9083G>A (p.R3028H, p.(Arg3028His)), COL12A1(NM_004370.6):c.9083G>A (p.R3028H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75087675C>T" "" "likely benign" "" "0000264766" "0" "10" "6" "75797302" "75797302" "subst" "0.746462" "02330" "COL12A1_000001" "g.75797302C>T" "" "" "" "COL12A1(NM_004370.6):c.9172G>A (p.G3058S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75087586C>T" "" "benign" "" "0000268198" "0" "30" "6" "75893741" "75893741" "subst" "5.68902E-5" "02329" "COL12A1_000043" "g.75893741C>A" "" "" "" "COL12A1(NM_004370.5):c.1117G>T (p.A373S), COL12A1(NM_004370.6):c.1117G>T (p.A373S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75184025C>A" "" "likely benign" "" "0000268199" "0" "30" "6" "75904605" "75904605" "subst" "0.000309913" "02329" "COL12A1_000047" "g.75904605T>C" "" "" "" "COL12A1(NM_004370.6):c.132A>G (p.S44=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75194889T>C" "" "likely benign" "" "0000268202" "0" "10" "6" "75890946" "75890946" "dup" "0" "02329" "COL12A1_000041" "g.75890946dup" "" "" "" "COL12A1(NM_004370.5):c.1892-7dupT, COL12A1(NM_004370.5):c.1892-7dupT (p.(=)), COL12A1(NM_004370.6):c.1892-7dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75181230dup" "" "benign" "" "0000268203" "0" "10" "6" "75890637" "75890637" "subst" "0.00152445" "02329" "COL12A1_000038" "g.75890637G>T" "" "" "" "COL12A1(NM_004370.6):c.2164+18C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75180921G>T" "" "benign" "" "0000268204" "0" "30" "6" "75862112" "75862112" "subst" "0.000350092" "02329" "COL12A1_000032" "g.75862112C>T" "" "" "" "COL12A1(NM_004370.6):c.3652G>A (p.V1218M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75152396C>T" "" "likely benign" "" "0000268205" "0" "10" "6" "75861013" "75861013" "subst" "0.00688053" "02329" "COL12A1_000031" "g.75861013C>T" "" "" "" "COL12A1(NM_004370.6):c.4001-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75151297C>T" "" "benign" "" "0000268206" "0" "10" "6" "75851788" "75851788" "subst" "0.00105717" "02329" "COL12A1_000030" "g.75851788G>A" "" "" "" "COL12A1(NM_004370.6):c.4917C>T (p.D1639=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75142072G>A" "" "benign" "" "0000268207" "0" "30" "6" "75848630" "75848630" "subst" "0.00107134" "02329" "COL12A1_000029" "g.75848630C>G" "" "" "" "COL12A1(NM_004370.6):c.5005G>C (p.E1669Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75138914C>G" "" "likely benign" "" "0000268208" "0" "10" "6" "75848169" "75848169" "subst" "0.00505509" "02329" "COL12A1_000026" "g.75848169C>T" "" "" "" "COL12A1(NM_004370.6):c.5225G>A (p.R1742H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75138453C>T" "" "benign" "" "0000268210" "0" "10" "6" "75844458" "75844458" "subst" "0.007606" "02329" "COL12A1_000024" "g.75844458C>T" "" "" "" "COL12A1(NM_004370.6):c.5508G>A (p.T1836=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75134742C>T" "" "benign" "" "0000268211" "0" "10" "6" "75843076" "75843076" "subst" "0.000537402" "02329" "COL12A1_000023" "g.75843076G>A" "" "" "" "COL12A1(NM_004370.6):c.5727C>T (p.Y1909=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75133360G>A" "" "benign" "" "0000268212" "0" "30" "6" "75841719" "75841719" "subst" "0.00259769" "02329" "COL12A1_000021" "g.75841719T>C" "" "" "" "COL12A1(NM_004370.6):c.5874A>G (p.P1958=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75132003T>C" "" "likely benign" "" "0000268213" "0" "10" "6" "75839819" "75839819" "subst" "0.00287695" "02329" "COL12A1_000020" "g.75839819T>G" "" "" "" "COL12A1(NM_004370.6):c.6198A>C (p.P2066=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75130103T>G" "" "benign" "" "0000268214" "0" "10" "6" "75899300" "75899300" "subst" "0.00564399" "02329" "COL12A1_000045" "g.75899300T>G" "" "" "" "COL12A1(NM_004370.6):c.626A>C (p.K209T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75189584T>G" "" "benign" "" "0000268215" "0" "30" "6" "75838071" "75838071" "subst" "0.000871904" "02329" "COL12A1_000019" "g.75838071G>T" "" "" "" "COL12A1(NM_004370.6):c.6281C>A (p.T2094N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75128355G>T" "" "likely benign" "" "0000268216" "0" "10" "6" "75834971" "75834971" "subst" "0.0342773" "02329" "COL12A1_000017" "g.75834971T>A" "" "" "" "COL12A1(NM_004370.6):c.6479A>T (p.E2160V, p.(Glu2160Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75125255T>A" "" "benign" "" "0000268217" "0" "10" "6" "75833687" "75833687" "subst" "0.00261217" "02329" "COL12A1_000015" "g.75833687C>T" "" "" "" "COL12A1(NM_004370.6):c.6848G>A (p.G2283E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75123971C>T" "" "benign" "" "0000268218" "0" "30" "6" "75828890" "75828890" "subst" "0.000573824" "02329" "COL12A1_000014" "g.75828890G>A" "" "" "" "COL12A1(NM_004370.6):c.7223C>T (p.T2408M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75119174G>A" "" "likely benign" "" "0000268219" "0" "10" "6" "75828814" "75828814" "subst" "0.00391428" "02329" "COL12A1_000013" "g.75828814C>A" "" "" "" "COL12A1(NM_004370.6):c.7299G>T (p.T2433=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75119098C>A" "" "benign" "" "0000268220" "0" "30" "6" "75827180" "75827180" "subst" "1.62787E-5" "02329" "COL12A1_000012" "g.75827180G>A" "" "" "" "COL12A1(NM_004370.6):c.7437C>T (p.H2479=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75117464G>A" "" "likely benign" "" "0000268221" "0" "10" "6" "75823478" "75823482" "del" "0" "02329" "COL12A1_000011" "g.75823478_75823482del" "" "" "" "COL12A1(NM_004370.6):c.7698-19_7698-15delCTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75113762_75113766del" "" "benign" "" "0000268222" "0" "10" "6" "75823372" "75823372" "subst" "0.0129504" "02329" "COL12A1_000010" "g.75823372T>C" "" "" "" "COL12A1(NM_004370.6):c.7786A>G (p.I2596V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75113656T>C" "" "benign" "" "0000268223" "0" "30" "6" "75818737" "75818737" "subst" "2.87128E-5" "02329" "COL12A1_000009" "g.75818737G>A" "" "" "" "COL12A1(NM_004370.6):c.8097C>T (p.A2699=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75109021G>A" "" "likely benign" "" "0000268224" "0" "10" "6" "75814903" "75814903" "subst" "0.0628544" "02329" "COL12A1_000007" "g.75814903T>A" "" "" "" "COL12A1(NM_004370.6):c.8265+19A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75105187T>A" "" "benign" "" "0000268225" "0" "30" "6" "75806981" "75806981" "subst" "0.000618112" "02329" "COL12A1_000006" "g.75806981T>C" "" "" "" "COL12A1(NM_004370.6):c.8565A>G (p.P2855=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75097265T>C" "" "likely benign" "" "0000268226" "0" "10" "6" "75797391" "75797391" "subst" "0.00403396" "02329" "COL12A1_000002" "g.75797391C>T" "" "" "" "COL12A1(NM_004370.5):c.9083G>A (p.R3028H, p.(Arg3028His)), COL12A1(NM_004370.6):c.9083G>A (p.R3028H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75087675C>T" "" "benign" "" "0000268227" "0" "10" "6" "75797302" "75797302" "subst" "0.746462" "02329" "COL12A1_000001" "g.75797302C>T" "" "" "" "COL12A1(NM_004370.6):c.9172G>A (p.G3058S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75087586C>T" "" "benign" "" "0000268228" "0" "30" "6" "75898064" "75898064" "subst" "0.00104069" "02329" "COL12A1_000044" "g.75898064C>T" "" "" "" "COL12A1(NM_004370.6):c.997+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75188348C>T" "" "likely benign" "" "0000273820" "0" "50" "6" "75806976" "75806976" "subst" "4.06749E-6" "01943" "COL12A1_000005" "g.75806976C>T" "" "" "" "COL12A1(NM_004370.5):c.8570G>A (p.G2857E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75097260C>T" "" "VUS" "" "0000331093" "0" "50" "6" "75836079" "75836079" "subst" "0.000317703" "01804" "COL12A1_000018" "g.75836079A>G" "" "" "" "COL12A1(NM_004370.5):c.6448T>C (p.(Tyr2150His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75126363A>G" "" "VUS" "" "0000331094" "0" "50" "6" "75884983" "75884983" "subst" "0.00138229" "01804" "COL12A1_000034" "g.75884983C>T" "" "" "" "COL12A1(NM_004370.5):c.2481G>A (p.(=)), COL12A1(NM_004370.6):c.2481G>A (p.T827=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75175267C>T" "" "VUS" "" "0000331095" "0" "50" "6" "75887423" "75887423" "subst" "0" "01804" "COL12A1_000036" "g.75887423G>A" "" "" "" "COL12A1(NM_004370.5):c.2393C>T (p.(Ser798Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75177707G>A" "" "VUS" "" "0000331096" "0" "50" "6" "75887541" "75887541" "subst" "0.000670535" "01804" "COL12A1_000037" "g.75887541G>A" "" "" "" "COL12A1(NM_004370.5):c.2275C>T (p.(Pro759Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75177825G>A" "" "VUS" "" "0000338716" "0" "90" "6" "75818732" "75818732" "subst" "0" "02327" "COL12A1_000048" "g.75818732A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75109016A>G" "" "pathogenic" "" "0000341682" "0" "70" "6" "75866063" "75866063" "subst" "0" "02327" "COL12A1_000055" "g.75866063G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75156347G>A" "" "likely pathogenic" "" "0000341921" "0" "50" "6" "75857507" "75857507" "subst" "2.04511E-5" "02327" "COL12A1_000054" "g.75857507C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75147791C>T" "" "VUS" "" "0000342210" "0" "50" "6" "75839850" "75839850" "subst" "0" "02327" "COL12A1_000052" "g.75839850C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75130134C>T" "" "VUS" "" "0000349357" "0" "30" "6" "75838138" "75838138" "subst" "0" "02327" "COL12A1_000051" "g.75838138T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75128422T>C" "" "likely benign" "" "0000350004" "0" "50" "6" "75825759" "75825759" "subst" "0" "02327" "COL12A1_000050" "g.75825759A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75116043A>G" "" "VUS" "" "0000350365" "0" "50" "6" "75843684" "75843684" "subst" "0" "02327" "COL12A1_000053" "g.75843684C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75133968C>T" "" "VUS" "" "0000351363" "0" "90" "6" "75823317" "75823317" "subst" "0" "02327" "COL12A1_000049" "g.75823317C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75113601C>T" "" "pathogenic" "" "0000439049" "0" "50" "6" "75828890" "75828890" "subst" "0.000573824" "01164" "COL12A1_000014" "g.75828890G>A" "" "" "" "" "" "Germline" "" "rs141593495" "0" "" "" "g.75119174G>A" "" "VUS" "ACMG" "0000439736" "0" "50" "6" "75893852" "75893852" "subst" "2.45182E-5" "01164" "COL12A1_000056" "g.75893852G>A" "" "" "" "" "not regarded causative since missense variants in COL12A1 other than glycine substitutions within the triple helical domain are not regarded as pathogenic." "Germline" "" "rs375542964" "0" "" "" "g.75184136G>A" "" "VUS" "ACMG" "0000529650" "0" "30" "6" "75798807" "75798807" "subst" "0.000112077" "02329" "COL12A1_000057" "g.75798807T>C" "" "" "" "COL12A1(NM_004370.6):c.9010+15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75089091T>C" "" "likely benign" "" "0000529695" "0" "90" "6" "75812363" "75812363" "subst" "0" "02327" "COL12A1_000058" "g.75812363C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75102647C>G" "" "pathogenic" "" "0000529701" "0" "30" "6" "75814911" "75814911" "subst" "4.11712E-6" "02329" "COL12A1_000059" "g.75814911A>G" "" "" "" "COL12A1(NM_004370.6):c.8265+11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75105195A>G" "" "likely benign" "" "0000529716" "0" "30" "6" "75823310" "75823310" "del" "0" "02329" "COL12A1_000061" "g.75823310del" "" "" "" "COL12A1(NM_004370.6):c.7840+12delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75113594del" "" "likely benign" "" "0000529717" "0" "50" "6" "75825601" "75825601" "subst" "4.07827E-6" "02327" "COL12A1_000062" "g.75825601C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75115885C>A" "" "VUS" "" "0000529719" "0" "30" "6" "75828856" "75828856" "subst" "3.25447E-5" "02329" "COL12A1_000063" "g.75828856G>A" "" "" "" "COL12A1(NM_004370.5):c.7257C>T (p.S2419=), COL12A1(NM_004370.6):c.7257C>T (p.S2419=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75119140G>A" "" "likely benign" "" "0000529720" "0" "50" "6" "75829168" "75829168" "subst" "0" "02327" "COL12A1_000064" "g.75829168C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75119452C>T" "" "VUS" "" "0000529728" "0" "30" "6" "75834860" "75834860" "subst" "0.00873014" "02329" "COL12A1_000065" "g.75834860G>A" "" "" "" "COL12A1(NM_004370.5):c.6590C>T (p.(Thr2197Ile)), COL12A1(NM_004370.6):c.6590C>T (p.T2197I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75125144G>A" "" "likely benign" "" "0000529759" "0" "30" "6" "75847306" "75847306" "subst" "4.07156E-6" "02329" "COL12A1_000069" "g.75847306A>G" "" "" "" "COL12A1(NM_004370.6):c.5252-11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75137590A>G" "" "likely benign" "" "0000529763" "0" "30" "6" "75851829" "75851829" "subst" "0.000918557" "01804" "COL12A1_000070" "g.75851829A>C" "" "" "" "COL12A1(NM_004370.5):c.4876T>G (p.(Ser1626Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75142113A>C" "" "likely benign" "" "0000529804" "0" "30" "6" "75866153" "75866153" "subst" "2.44002E-5" "02329" "COL12A1_000073" "g.75866153C>T" "" "" "" "COL12A1(NM_004370.6):c.3070G>A (p.V1024I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75156437C>T" "" "likely benign" "" "0000529806" "0" "30" "6" "75875241" "75875241" "subst" "0.00229889" "02329" "COL12A1_000074" "g.75875241C>T" "" "" "" "COL12A1(NM_004370.6):c.2965G>A (p.G989R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75165525C>T" "" "likely benign" "" "0000529807" "0" "30" "6" "75884827" "75884827" "subst" "4.06395E-5" "02329" "COL12A1_000075" "g.75884827G>A" "" "" "" "COL12A1(NM_004370.6):c.2637C>T (p.Y879=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75175111G>A" "" "likely benign" "" "0000529808" "0" "10" "6" "75884983" "75884983" "subst" "0.00138229" "02329" "COL12A1_000034" "g.75884983C>T" "" "" "" "COL12A1(NM_004370.5):c.2481G>A (p.(=)), COL12A1(NM_004370.6):c.2481G>A (p.T827=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75175267C>T" "" "benign" "" "0000529810" "0" "10" "6" "75890733" "75890733" "subst" "0.00349184" "02329" "COL12A1_000077" "g.75890733A>G" "" "" "" "COL12A1(NM_004370.6):c.2086T>C (p.L696=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75181017A>G" "" "benign" "" "0000529811" "0" "10" "6" "75890812" "75890812" "subst" "0.00350091" "02329" "COL12A1_000078" "g.75890812C>T" "" "" "" "COL12A1(NM_004370.6):c.2007G>A (p.A669=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75181096C>T" "" "benign" "" "0000529812" "0" "10" "6" "75890933" "75890935" "del" "0" "02329" "COL12A1_000081" "g.75890933_75890935del" "" "" "" "COL12A1(NM_004370.6):c.1892-8_1892-6delTTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75181217_75181219del" "" "benign" "" "0000529816" "0" "10" "6" "75890945" "75890946" "dup" "0" "02329" "COL12A1_000082" "g.75890945_75890946dup" "" "" "" "COL12A1(NM_004370.5):c.1892-8_1892-7dup (p.(=)), COL12A1(NM_004370.5):c.1892-8_1892-7dupTT, COL12A1(NM_004370.6):c.1892-8_1892-7dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75181229_75181230dup" "" "benign" "" "0000529818" "0" "10" "6" "75890946" "75890946" "dup" "0" "02330" "COL12A1_000041" "g.75890946dup" "" "" "" "COL12A1(NM_004370.5):c.1892-7dupT, COL12A1(NM_004370.5):c.1892-7dupT (p.(=)), COL12A1(NM_004370.6):c.1892-7dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75181230dup" "" "benign" "" "0000529819" "0" "30" "6" "75890946" "75890946" "dup" "0" "01804" "COL12A1_000041" "g.75890946dup" "" "" "" "COL12A1(NM_004370.5):c.1892-7dupT, COL12A1(NM_004370.5):c.1892-7dupT (p.(=)), COL12A1(NM_004370.6):c.1892-7dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75181230dup" "" "likely benign" "" "0000529820" "0" "10" "6" "75893106" "75893106" "subst" "0.00349091" "02329" "COL12A1_000083" "g.75893106T>C" "" "" "" "COL12A1(NM_004370.6):c.1551A>G (p.T517=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75183390T>C" "" "benign" "" "0000529824" "0" "50" "6" "75893815" "75893815" "subst" "0" "02329" "COL12A1_000087" "g.75893815T>A" "" "" "" "COL12A1(NM_004370.6):c.1043A>T (p.K348I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75184099T>A" "" "VUS" "" "0000529825" "0" "10" "6" "75898241" "75898241" "subst" "0.0035477" "02329" "COL12A1_000088" "g.75898241A>C" "" "" "" "COL12A1(NM_004370.6):c.834T>G (p.A278=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75188525A>C" "" "benign" "" "0000529826" "0" "30" "6" "75899083" "75899083" "subst" "0" "02327" "COL12A1_000089" "g.75899083A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75189367A>C" "" "likely benign" "" "0000529828" "0" "30" "6" "75904629" "75904629" "subst" "2.47676E-5" "02329" "COL12A1_000091" "g.75904629T>G" "" "" "" "COL12A1(NM_004370.6):c.108A>C (p.I36=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75194913T>G" "" "likely benign" "" "0000597890" "0" "90" "6" "75540881" "83110141" "del" "0" "00006" "COL12A1_000092" "g.(?_75540881)_(83110141_?)del" "" "{PMID:O\'Grady 2016:27159402}" "" "6q13-q14.1 (75,540,881-83,110,141)" "deletion incl. COL12A1" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000610489" "0" "30" "6" "75823016" "75823016" "subst" "9.70083E-5" "01943" "COL12A1_000093" "g.75823016C>G" "" "" "" "COL12A1(NM_004370.5):c.7854G>C (p.T2618=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75113300C>G" "" "likely benign" "" "0000621768" "0" "10" "6" "75890946" "75890946" "dup" "0" "01943" "COL12A1_000041" "g.75890946dup" "" "" "" "COL12A1(NM_004370.5):c.1892-7dupT, COL12A1(NM_004370.5):c.1892-7dupT (p.(=)), COL12A1(NM_004370.6):c.1892-7dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75181230dup" "" "benign" "" "0000647282" "0" "70" "6" "75818843" "75818843" "del" "0" "01807" "COL12A1_000096" "g.75818843del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.75109127del" "" "likely pathogenic" "" "0000652048" "1" "50" "6" "75797391" "75797391" "subst" "0.00403396" "03575" "COL12A1_000002" "g.75797391C>T" "7/2754 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 7 heterozygous; {DB:CLININrs41266761}" "Germline" "" "rs41266761" "0" "" "" "g.75087675C>T" "" "VUS" "" "0000652051" "1" "30" "6" "75814950" "75814950" "subst" "0.00961093" "03575" "COL12A1_000008" "g.75814950A>G" "10/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "10 heterozygous; {DB:CLININrs34369939}" "Germline" "" "rs34369939" "0" "" "" "g.75105234A>G" "" "likely benign" "" "0000652055" "1" "30" "6" "75838071" "75838071" "subst" "0.000871904" "03575" "COL12A1_000019" "g.75838071G>T" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs201567848}" "Germline" "" "rs201567848" "0" "" "" "g.75128355G>T" "" "likely benign" "" "0000652057" "1" "10" "6" "75844458" "75844458" "subst" "0.007606" "03575" "COL12A1_000024" "g.75844458C>T" "37/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "37 heterozygous, no homozygous; {DB:CLININrs77425231}" "Germline" "" "rs77425231" "0" "" "" "g.75134742C>T" "" "benign" "" "0000652058" "1" "50" "6" "75844499" "75844499" "subst" "0.000272298" "03575" "COL12A1_000067" "g.75844499C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs201408175}" "Germline" "" "rs201408175" "0" "" "" "g.75134783C>T" "" "VUS" "" "0000652059" "1" "10" "6" "75848169" "75848169" "subst" "0.00505509" "03575" "COL12A1_000026" "g.75848169C>T" "4/2768 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs79830915}" "Germline" "" "rs79830915" "0" "" "" "g.75138453C>T" "" "benign" "" "0000655658" "0" "30" "6" "75865636" "75865636" "subst" "0" "02329" "COL12A1_000097" "g.75865636T>C" "" "" "" "COL12A1(NM_004370.6):c.3251-66A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75155920T>C" "" "likely benign" "" "0000655659" "0" "50" "6" "75884768" "75884768" "subst" "3.66901E-5" "01804" "COL12A1_000098" "g.75884768C>T" "" "" "" "COL12A1(NM_004370.5):c.2696G>A (p.(Gly899Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75175052C>T" "" "VUS" "" "0000655660" "0" "30" "6" "75893331" "75893331" "subst" "0" "02329" "COL12A1_000099" "g.75893331C>T" "" "" "" "COL12A1(NM_004370.6):c.1326G>A (p.V442=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75183615C>T" "" "likely benign" "" "0000659707" "0" "50" "6" "75797430" "75797430" "subst" "0" "01164" "COL12A1_000101" "g.75797430C>T" "" "" "" "" "ACMG grading: PM2,PP3\r\nsuspicion of dHMN Type V (Silver Syndrome) with autosomal dom. inheritance, differential diagnosis: GARS, TRPV-4, progressive gait disorder since 5th year of life, similar symptoms in the father and probably also in the grandfather, Clinic: hollow foot, corpus callosum hypoplasia, stepper gait, scapula alata, claw hands with atrophy, pos. pyramidal tract sign" "Germline" "" "" "0" "" "" "g.75087714C>T" "" "VUS" "ACMG" "0000669932" "3" "50" "6" "75797391" "75797391" "subst" "0.00403396" "03575" "COL12A1_000002" "g.75797391C>T" "1/2754 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 homozygous; {DB:CLININrs41266761}" "Germline" "" "rs41266761" "0" "" "" "g.75087675C>T" "" "VUS" "" "0000669933" "3" "30" "6" "75814950" "75814950" "subst" "0.00961093" "03575" "COL12A1_000008" "g.75814950A>G" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs34369939}" "Germline" "" "rs34369939" "0" "" "" "g.75105234A>G" "" "likely benign" "" "0000677869" "0" "50" "6" "75797410" "75797410" "subst" "0.000141053" "01943" "COL12A1_000102" "g.75797410G>A" "" "" "" "COL12A1(NM_004370.5):c.9064C>T (p.P3022S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677871" "0" "50" "6" "75801077" "75801077" "subst" "2.03451E-5" "01943" "COL12A1_000103" "g.75801077C>T" "" "" "" "COL12A1(NM_004370.5):c.8714G>A (p.R2905Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677876" "0" "30" "6" "75828856" "75828856" "subst" "3.25447E-5" "01943" "COL12A1_000063" "g.75828856G>A" "" "" "" "COL12A1(NM_004370.5):c.7257C>T (p.S2419=), COL12A1(NM_004370.6):c.7257C>T (p.S2419=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677878" "0" "30" "6" "75833977" "75833977" "subst" "8.96452E-5" "01943" "COL12A1_000104" "g.75833977C>T" "" "" "" "COL12A1(NM_004370.5):c.6718G>A (p.A2240T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677881" "0" "30" "6" "75840573" "75840573" "subst" "0.00070056" "02329" "COL12A1_000105" "g.75840573C>T" "" "" "" "COL12A1(NM_004370.6):c.6062G>A (p.R2021Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677885" "0" "30" "6" "75857473" "75857473" "subst" "0.000765285" "02329" "COL12A1_000106" "g.75857473T>C" "" "" "" "COL12A1(NM_004370.6):c.4335A>G (p.K1445=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677887" "0" "50" "6" "75861578" "75861578" "subst" "0.00278133" "01943" "COL12A1_000107" "g.75861578C>T" "" "" "" "COL12A1(NM_004370.5):c.4000+5G>A (p.?), COL12A1(NM_004370.6):c.4000+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677888" "0" "30" "6" "75893741" "75893741" "subst" "5.68902E-5" "01943" "COL12A1_000043" "g.75893741C>A" "" "" "" "COL12A1(NM_004370.5):c.1117G>T (p.A373S), COL12A1(NM_004370.6):c.1117G>T (p.A373S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677889" "0" "50" "6" "75902026" "75902026" "subst" "0" "02327" "COL12A1_000108" "g.75902026G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689802" "0" "30" "6" "75833152" "75833152" "subst" "0" "02329" "COL12A1_000109" "g.75833152C>G" "" "" "" "COL12A1(NM_004370.6):c.6872-32G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000697405" "0" "70" "6" "75836100" "75836100" "subst" "0" "00006" "COL12A1_000110" "g.75836100C>A" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.75126384C>A" "" "likely pathogenic" "" "0000721065" "0" "30" "6" "75797391" "75797391" "subst" "0.00403396" "01943" "COL12A1_000002" "g.75797391C>T" "" "" "" "COL12A1(NM_004370.5):c.9083G>A (p.R3028H, p.(Arg3028His)), COL12A1(NM_004370.6):c.9083G>A (p.R3028H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721066" "0" "30" "6" "75797391" "75797391" "subst" "0.00403396" "01804" "COL12A1_000002" "g.75797391C>T" "" "" "" "COL12A1(NM_004370.5):c.9083G>A (p.R3028H, p.(Arg3028His)), COL12A1(NM_004370.6):c.9083G>A (p.R3028H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721069" "0" "30" "6" "75804495" "75804495" "subst" "0" "02329" "COL12A1_000111" "g.75804495G>A" "" "" "" "COL12A1(NM_004370.6):c.8649+329C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721070" "0" "30" "6" "75804851" "75804851" "subst" "0.000381915" "02326" "COL12A1_000112" "g.75804851T>C" "" "" "" "COL12A1(NM_004370.6):c.8622A>G (p.P2874=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721071" "0" "30" "6" "75804851" "75804851" "subst" "0.000381915" "02329" "COL12A1_000112" "g.75804851T>C" "" "" "" "COL12A1(NM_004370.6):c.8622A>G (p.P2874=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721076" "0" "30" "6" "75814950" "75814950" "subst" "0.00961093" "01804" "COL12A1_000008" "g.75814950A>G" "" "" "" "COL12A1(NM_004370.5):c.8237T>C (p.(Val2746Ala)), COL12A1(NM_004370.6):c.8237T>C (p.V2746A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721077" "0" "50" "6" "75823412" "75823412" "subst" "0" "02329" "COL12A1_000094" "g.75823412T>A" "" "" "" "COL12A1(NM_004370.6):c.7746A>T (p.L2582F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721080" "0" "50" "6" "75834906" "75834906" "subst" "0" "02329" "COL12A1_000016" "g.75834906C>T" "" "" "" "COL12A1(NM_004370.6):c.6544G>A (p.V2182M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721085" "0" "50" "6" "75839943" "75839943" "subst" "4.08177E-5" "02329" "COL12A1_000066" "g.75839943C>T" "" "" "" "COL12A1(NM_004370.6):c.6074G>A (p.R2025H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721086" "0" "50" "6" "75844499" "75844499" "subst" "0.000272298" "02329" "COL12A1_000067" "g.75844499C>T" "" "" "" "COL12A1(NM_004370.6):c.5467G>A (p.V1823I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721087" "0" "50" "6" "75844555" "75844555" "subst" "0.000178865" "02329" "COL12A1_000068" "g.75844555C>T" "" "" "" "COL12A1(NM_004370.6):c.5411G>A (p.R1804Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721093" "0" "50" "6" "75861915" "75861915" "subst" "7.33048E-5" "02329" "COL12A1_000071" "g.75861915T>C" "" "" "" "COL12A1(NM_004370.6):c.3767A>G (p.H1256R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721094" "0" "50" "6" "75861929" "75861929" "subst" "0" "02329" "COL12A1_000072" "g.75861929C>T" "" "" "" "COL12A1(NM_004370.6):c.3753G>A (p.W1251*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721095" "0" "50" "6" "75887556" "75887556" "subst" "4.06451E-6" "02329" "COL12A1_000114" "g.75887556G>A" "" "" "" "COL12A1(NM_004370.6):c.2260C>T (p.R754*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721096" "0" "50" "6" "75890781" "75890781" "subst" "0" "01943" "COL12A1_000115" "g.75890781G>C" "" "" "" "COL12A1(NM_004370.5):c.2038C>G (p.P680A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721097" "0" "50" "6" "75893708" "75893708" "subst" "4.46991E-5" "02329" "COL12A1_000086" "g.75893708G>A" "" "" "" "COL12A1(NM_004370.6):c.1150C>T (p.P384S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721098" "0" "30" "6" "75893843" "75893843" "subst" "0" "01943" "COL12A1_000116" "g.75893843T>C" "" "" "" "COL12A1(NM_004370.5):c.1015A>G (p.N339D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721099" "0" "30" "6" "75898153" "75898153" "subst" "0.000268483" "02329" "COL12A1_000117" "g.75898153T>A" "" "" "" "COL12A1(NM_004370.6):c.922A>T (p.I308F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721100" "0" "50" "6" "75899319" "75899319" "subst" "7.36178E-5" "02329" "COL12A1_000090" "g.75899319G>T" "" "" "" "COL12A1(NM_004370.6):c.607C>A (p.(Leu203Ile), p.L203I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721101" "0" "30" "6" "75899329" "75899329" "subst" "0.00010211" "02329" "COL12A1_000118" "g.75899329T>C" "" "" "" "COL12A1(NM_004370.6):c.597A>G (p.Q199=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721102" "0" "50" "6" "75899457" "75899457" "subst" "2.8481E-5" "02329" "COL12A1_000100" "g.75899457T>C" "" "" "" "COL12A1(NM_004370.6):c.469A>G (p.K157E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721103" "0" "30" "6" "75901284" "75901284" "subst" "0" "02329" "COL12A1_000119" "g.75901284G>A" "" "" "" "COL12A1(NM_004370.6):c.394+133C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000787241" "0" "50" "6" "75818883" "75818883" "subst" "0" "00006" "COL12A1_000120" "g.75818883C>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.75109167C>A" "" "VUS" "" "0000802716" "0" "50" "6" "75823017" "75823017" "subst" "0.000310622" "01943" "COL12A1_000121" "g.75823017G>A" "" "" "" "COL12A1(NM_004370.5):c.7853C>T (p.T2618M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802721" "0" "30" "6" "75834860" "75834860" "subst" "0.00873014" "01804" "COL12A1_000065" "g.75834860G>A" "" "" "" "COL12A1(NM_004370.5):c.6590C>T (p.(Thr2197Ile)), COL12A1(NM_004370.6):c.6590C>T (p.T2197I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802731" "0" "30" "6" "75865992" "75865992" "subst" "4.06779E-6" "02329" "COL12A1_000122" "g.75865992C>T" "" "" "" "COL12A1(NM_004370.6):c.3231G>A (p.R1077=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802732" "0" "30" "6" "75893706" "75893706" "subst" "0.00032101" "02329" "COL12A1_000123" "g.75893706A>G" "" "" "" "COL12A1(NM_004370.6):c.1152T>C (p.P384=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802733" "0" "50" "6" "75899415" "75899415" "subst" "4.06894E-6" "02329" "COL12A1_000124" "g.75899415C>G" "" "" "" "COL12A1(NM_004370.6):c.511G>C (p.(Asp171His), p.D171H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000823971" "0" "50" "6" "75893746" "75893746" "subst" "0" "03501" "COL12A1_000125" "g.75893746A>G" "" "{PMID:Karthikeyan 2024:39548682}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.75184030A>G" "" "VUS" "" "0000824878" "0" "50" "6" "75798820" "75798820" "subst" "0" "01164" "COL12A1_000126" "g.75798820A>G" "" "" "" "" "ACMG: PVS1_MOD, PM2_SUP" "Germline" "?" "" "" "" "" "" "" "VUS" "ACMG" "0000851306" "0" "30" "6" "75833783" "75833783" "subst" "0.000406868" "01943" "COL12A1_000129" "g.75833783C>T" "" "" "" "COL12A1(NM_004370.5):c.6752G>A (p.R2251H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851308" "0" "10" "6" "75839794" "75839794" "subst" "0.00183343" "02329" "COL12A1_000130" "g.75839794G>A" "" "" "" "COL12A1(NM_004370.6):c.6210+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851320" "0" "30" "6" "75861578" "75861578" "subst" "0.00278133" "01804" "COL12A1_000107" "g.75861578C>T" "" "" "" "COL12A1(NM_004370.5):c.4000+5G>A (p.?), COL12A1(NM_004370.6):c.4000+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851321" "0" "10" "6" "75890945" "75890946" "dup" "0" "01943" "COL12A1_000082" "g.75890945_75890946dup" "" "" "" "COL12A1(NM_004370.5):c.1892-8_1892-7dup (p.(=)), COL12A1(NM_004370.5):c.1892-8_1892-7dupTT, COL12A1(NM_004370.6):c.1892-8_1892-7dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000860504" "0" "30" "6" "75812424" "75812424" "subst" "1.10572E-5" "02329" "COL12A1_000127" "g.75812424G>C" "" "" "" "COL12A1(NM_004370.6):c.8320-16C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860505" "0" "70" "6" "75828867" "75828871" "del" "0" "02327" "COL12A1_000128" "g.75828867_75828871del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000860512" "0" "30" "6" "75861578" "75861578" "subst" "0.00278133" "02326" "COL12A1_000107" "g.75861578C>T" "" "" "" "COL12A1(NM_004370.5):c.4000+5G>A (p.?), COL12A1(NM_004370.6):c.4000+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860513" "0" "30" "6" "75861851" "75861851" "subst" "0" "02329" "COL12A1_000131" "g.75861851G>C" "" "" "" "COL12A1(NM_004370.6):c.3831C>G (p.L1277=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000878067" "20" "50" "6" "75800014" "75800014" "subst" "0" "02544" "COL12A1_000132" "g.75800014C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.75090298C>A" "" "VUS" "" "0000878072" "10" "50" "6" "75898960" "75898960" "subst" "0" "02544" "COL12A1_000143" "g.75898960T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.75189244T>G" "" "VUS" "" "0000878106" "0" "50" "6" "75833970" "75833970" "subst" "0" "02544" "COL12A1_000136" "g.75833970C>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.75124254C>A" "" "VUS" "" "0000878112" "0" "50" "6" "75841715" "75841715" "subst" "4.06514E-6" "02544" "COL12A1_000137" "g.75841715G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.75131999G>A" "" "VUS" "" "0000878120" "0" "50" "6" "75818731" "75818731" "subst" "8.21807E-6" "02544" "COL12A1_000133" "g.75818731C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.75109015C>T" "" "VUS" "" "0000878128" "0" "50" "6" "75823001" "75823001" "subst" "3.31038E-5" "02544" "COL12A1_000134" "g.75823001G>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.75113285G>T" "" "VUS" "" "0000878130" "0" "50" "6" "75893174" "75893174" "subst" "0" "02544" "COL12A1_000142" "g.75893174T>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.75183458T>C" "" "VUS" "" "0000878144" "0" "50" "6" "75861702" "75861702" "subst" "0" "02544" "COL12A1_000139" "g.75861702G>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.75151986G>C" "" "VUS" "" "0000878146" "0" "50" "6" "75901461" "75901461" "subst" "2.58429E-5" "02544" "COL12A1_000144" "g.75901461G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.75191745G>A" "" "VUS" "" "0000878152" "0" "70" "6" "75800014" "75800014" "subst" "0" "02544" "COL12A1_000132" "g.75800014C>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.75090298C>A" "" "likely pathogenic" "" "0000878162" "20" "50" "6" "75890757" "75890757" "subst" "2.03239E-5" "02544" "COL12A1_000141" "g.75890757G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.75181041G>C" "" "VUS" "" "0000878169" "0" "50" "6" "75829110" "75829110" "subst" "0" "02544" "COL12A1_000135" "g.75829110C>G" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.75119394C>G" "" "VUS" "" "0000878199" "20" "50" "6" "75865976" "75865976" "subst" "5.29139E-5" "02544" "COL12A1_000140" "g.75865976T>C" "" "0" "" "" "" "Germline" "" "" "0" "" "" "g.75156260T>C" "" "VUS" "" "0000878200" "10" "50" "6" "75851805" "75851805" "subst" "1.21966E-5" "02544" "COL12A1_000138" "g.75851805C>T" "" "0" "" "" "" "Germline" "" "" "0" "" "" "g.75142089C>T" "" "VUS" "" "0000887442" "0" "50" "6" "75822922" "75822922" "subst" "0" "02329" "COL12A1_000145" "g.75822922T>C" "" "" "" "COL12A1(NM_004370.6):c.7948A>G (p.K2650E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887443" "0" "30" "6" "75823666" "75823666" "subst" "0" "02329" "COL12A1_000146" "g.75823666A>G" "" "" "" "COL12A1(NM_004370.6):c.7698-206T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887449" "0" "30" "6" "75833687" "75833687" "subst" "0.00261217" "02326" "COL12A1_000015" "g.75833687C>T" "" "" "" "COL12A1(NM_004370.6):c.6848G>A (p.G2283E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887464" "0" "30" "6" "75890945" "75890946" "dup" "0" "02326" "COL12A1_000082" "g.75890945_75890946dup" "" "" "" "COL12A1(NM_004370.5):c.1892-8_1892-7dup (p.(=)), COL12A1(NM_004370.5):c.1892-8_1892-7dupTT, COL12A1(NM_004370.6):c.1892-8_1892-7dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912579" "0" "30" "6" "75890933" "75890934" "del" "0" "02329" "COL12A1_000147" "g.75890933_75890934del" "" "" "" "COL12A1(NM_004370.6):c.1892-7_1892-6delTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912580" "0" "30" "6" "75892836" "75892836" "subst" "8.13299E-6" "02329" "COL12A1_000148" "g.75892836C>T" "" "" "" "COL12A1(NM_004370.6):c.1821G>A (p.R607=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912581" "0" "50" "6" "75893687" "75893687" "subst" "1.21916E-5" "02325" "COL12A1_000149" "g.75893687C>A" "" "" "" "COL12A1(NM_004370.6):c.1171G>T (p.V391F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912582" "0" "50" "6" "75902066" "75902066" "subst" "0" "02327" "COL12A1_000150" "g.75902066G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000918868" "0" "50" "6" "75838039" "75838039" "subst" "0" "04136" "COL12A1_000154" "g.75838039C>T" "" "Leone 2023, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.75128323C>T" "" "VUS" "" "0000918870" "0" "50" "6" "75841700" "75841700" "subst" "0.000113857" "04136" "COL12A1_000155" "g.75841700G>A" "" "Leone 2023, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.75131984G>A" "" "VUS" "" "0000918878" "0" "50" "6" "75823428" "75823428" "subst" "0" "04136" "COL12A1_000152" "g.75823428T>G" "" "Leone 2023, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.75113712T>G" "" "VUS" "" "0000918882" "10" "50" "6" "75812392" "75812392" "subst" "6.7533E-5" "04136" "COL12A1_000151" "g.75812392C>T" "" "Leone 2023, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.75102676C>T" "" "VUS" "" "0000918892" "0" "50" "6" "75898153" "75898153" "subst" "0.000268483" "04136" "COL12A1_000117" "g.75898153T>A" "" "Leone 2023, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.75188437T>A" "" "VUS" "" "0000918896" "0" "50" "6" "75836086" "75836086" "subst" "4.07272E-6" "04136" "COL12A1_000153" "g.75836086T>A" "" "Leone 2023, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.75126370T>A" "" "VUS" "" "0000918900" "0" "50" "6" "75884968" "75884968" "subst" "5.28365E-5" "04136" "COL12A1_000158" "g.75884968T>A" "" "Leone 2023, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.75175252T>A" "" "VUS" "" "0000918901" "0" "50" "6" "75866055" "75866055" "subst" "0" "04136" "COL12A1_000156" "g.75866055C>A" "" "Leone 2023, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.75156339C>A" "" "VUS" "" "0000918903" "0" "50" "6" "75898153" "75898153" "subst" "0.000268483" "04136" "COL12A1_000117" "g.75898153T>A" "" "Leone 2023, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.75188437T>A" "" "VUS" "" "0000918905" "0" "50" "6" "75884954" "75884954" "subst" "0" "04136" "COL12A1_000157" "g.75884954G>A" "" "Leone 2023, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.75175238G>A" "" "VUS" "" "0000918906" "0" "50" "6" "75884954" "75884954" "subst" "0" "04136" "COL12A1_000157" "g.75884954G>A" "" "Leone 2023, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.75175238G>A" "" "VUS" "" "0000922737" "0" "90" "6" "75834971" "75834971" "subst" "0.0342773" "04419" "COL12A1_000017" "g.75834971T>A" "" "{PMID:Fransen et al., 2021:33737726}" "" "" "Variant alleles in patients/ Total # of patients =\r\n132/1480" "Germline" "yes" "" "" "" "" "g.75125255T>A" "" "pathogenic" "ACMG" "0000924563" "0" "30" "6" "75801066" "75801066" "subst" "0" "02329" "COL12A1_000159" "g.75801066T>G" "" "" "" "COL12A1(NM_004370.6):c.8725A>C (p.R2909=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924564" "0" "10" "6" "75801260" "75801260" "subst" "0.00407738" "02329" "COL12A1_000160" "g.75801260A>T" "" "" "" "COL12A1(NM_004370.6):c.8650-19T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924567" "0" "50" "6" "75825628" "75825628" "subst" "4.09179E-6" "01804" "COL12A1_000161" "g.75825628C>T" "" "" "" "COL12A1(NM_004370.5):c.7569G>A (p.(Met2523Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924569" "0" "30" "6" "75828913" "75828913" "subst" "4.07458E-6" "02329" "COL12A1_000162" "g.75828913T>C" "" "" "" "COL12A1(NM_004370.6):c.7211-11A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924572" "0" "10" "6" "75839963" "75839963" "subst" "0.00849126" "02329" "COL12A1_000164" "g.75839963A>T" "" "" "" "COL12A1(NM_004370.6):c.6068-14T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924574" "0" "30" "6" "75884788" "75884788" "subst" "8.13451E-6" "02329" "COL12A1_000165" "g.75884788T>G" "" "" "" "COL12A1(NM_004370.6):c.2676A>C (p.G892=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924575" "0" "50" "6" "75892786" "75892786" "subst" "0" "02329" "COL12A1_000166" "g.75892786A>C" "" "" "" "COL12A1(NM_004370.6):c.1871T>G (p.L624W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929237" "0" "70" "6" "75823357" "75823360" "del" "0" "02329" "COL12A1_000167" "g.75823357_75823360del" "" "" "" "COL12A1(NM_004370.6):c.7803_7806delCAGA (p.D2601Efs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000929238" "0" "30" "6" "75825977" "75825977" "subst" "0" "02329" "COL12A1_000168" "g.75825977T>C" "" "" "" "COL12A1(NM_004370.6):c.7520-204A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929243" "0" "30" "6" "75887797" "75887797" "subst" "0" "02329" "COL12A1_000169" "g.75887797G>A" "" "" "" "COL12A1(NM_004370.6):c.2165-146C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000945983" "3" "90" "6" "75823317" "75823317" "subst" "0" "00006" "COL12A1_000049" "g.75823317C>T" "" "{PMID:Westra 2019:31127727}" "" "" "" "Germline" "" "" "0" "" "" "g.75113601C>T" "" "pathogenic (recessive)" "" "0000945984" "1" "90" "6" "75818732" "75818732" "subst" "0" "00006" "COL12A1_000048" "g.75818732A>G" "" "{PMID:Westra 2019:31127727}" "" "" "" "Germline" "" "" "0" "" "" "g.75109016A>G" "" "pathogenic (dominant)" "" "0000946061" "11" "50" "6" "75825759" "75825759" "subst" "0" "00006" "COL12A1_000050" "g.75825759A>G" "" "{PMID:Westra 2019:31127727}" "" "" "no variant 2nd chromosome; present in healthy father" "Germline" "" "" "0" "" "" "g.75116043A>G" "" "VUS" "" "0000946062" "21" "50" "6" "75865445" "75865445" "subst" "0" "00006" "COL12A1_000170" "g.75865445C>G" "" "{PMID:Westra 2019:31127727}" "" "" "no variant 2nd chromosome; present in healthy mother" "Germline" "" "" "0" "" "" "g.75155729C>G" "" "VUS" "" "0000946123" "0" "50" "6" "75857507" "75857507" "subst" "2.04511E-5" "00006" "COL12A1_000054" "g.75857507C>T" "" "{PMID:Westra 2019:31127727}" "" "" "present in affected brother; no further segregation analysis performed; FLNC not present in affected brother" "Germline/De novo (untested)" "" "" "0" "" "" "g.75147791C>T" "" "VUS" "" "0000948759" "0" "50" "6" "75797308" "75797308" "subst" "1.22001E-5" "02329" "COL12A1_000171" "g.75797308C>T" "" "" "" "COL12A1(NM_004370.6):c.9166G>A (p.G3056R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948767" "0" "50" "6" "75848560" "75848560" "subst" "2.44282E-5" "02329" "COL12A1_000172" "g.75848560A>G" "" "" "" "COL12A1(NM_004370.6):c.5075T>C (p.F1692S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948774" "0" "10" "6" "75875510" "75875510" "subst" "0.00184887" "02329" "COL12A1_000173" "g.75875510A>G" "" "" "" "COL12A1(NM_004370.6):c.2711-15T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000948775" "0" "30" "6" "75893013" "75893013" "subst" "0.000113801" "02329" "COL12A1_000174" "g.75893013G>T" "" "" "" "COL12A1(NM_004370.6):c.1644C>A (p.I548=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948776" "0" "30" "6" "75899061" "75899061" "subst" "0.000399423" "02326" "COL12A1_000175" "g.75899061G>A" "" "" "" "COL12A1(NM_004370.6):c.695C>T (p.T232M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964241" "0" "30" "6" "75804714" "75804714" "subst" "0" "02329" "COL12A1_000177" "g.75804714T>G" "" "" "" "COL12A1(NM_004370.6):c.8649+110A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964243" "0" "30" "6" "75806725" "75806725" "subst" "0" "02329" "COL12A1_000178" "g.75806725G>A" "" "" "" "COL12A1(NM_004370.6):c.8577+244C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964247" "0" "30" "6" "75822755" "75822755" "subst" "0" "02329" "COL12A1_000179" "g.75822755T>G" "" "" "" "COL12A1(NM_004370.6):c.7950+165A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964256" "0" "30" "6" "75865644" "75865644" "subst" "0" "02329" "COL12A1_000180" "g.75865644C>A" "" "" "" "COL12A1(NM_004370.6):c.3251-74G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964259" "0" "10" "6" "75890945" "75890946" "dup" "0" "01804" "COL12A1_000082" "g.75890945_75890946dup" "" "" "" "COL12A1(NM_004370.5):c.1892-8_1892-7dup (p.(=)), COL12A1(NM_004370.5):c.1892-8_1892-7dupTT, COL12A1(NM_004370.6):c.1892-8_1892-7dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000977342" "0" "30" "6" "75797195" "75797195" "subst" "0" "02329" "COL12A1_000181" "g.75797195C>A" "" "" "" "COL12A1(NM_004370.6):c.9181+98G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977360" "0" "30" "6" "75848261" "75848261" "subst" "0.000374681" "02326" "COL12A1_000182" "g.75848261G>A" "" "" "" "COL12A1(NM_004370.6):c.5133C>T (p.F1711=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977361" "0" "30" "6" "75848630" "75848630" "subst" "0.00107134" "02326" "COL12A1_000029" "g.75848630C>G" "" "" "" "COL12A1(NM_004370.6):c.5005G>C (p.E1669Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977367" "0" "10" "6" "75858116" "75858116" "subst" "0.000883457" "02329" "COL12A1_000183" "g.75858116A>G" "" "" "" "COL12A1(NM_004370.6):c.4245T>C (p.Y1415=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000977369" "0" "30" "6" "75861489" "75861489" "subst" "0" "02329" "COL12A1_000184" "g.75861489T>C" "" "" "" "COL12A1(NM_004370.6):c.4000+94A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977370" "0" "30" "6" "75864351" "75864351" "subst" "0" "02329" "COL12A1_000185" "g.75864351A>G" "" "" "" "COL12A1(NM_004370.6):c.3444-98T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995888" "0" "30" "6" "75838029" "75838029" "subst" "0" "01804" "COL12A1_000186" "g.75838029G>A" "" "" "" "COL12A1(NM_004370.5):c.6323C>T (p.(Thr2108Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995890" "0" "30" "6" "75844280" "75844280" "subst" "0" "02329" "COL12A1_000187" "g.75844280C>G" "" "" "" "COL12A1(NM_004370.6):c.5524+162G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995893" "0" "50" "6" "75848334" "75848334" "subst" "4.17247E-6" "02329" "COL12A1_000188" "g.75848334T>C" "" "" "" "COL12A1(NM_004370.6):c.5098-38A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995895" "0" "50" "6" "75855081" "75855081" "subst" "8.14916E-6" "01804" "COL12A1_000189" "g.75855081C>T" "" "" "" "COL12A1(NM_004370.5):c.4651G>A (p.(Asp1551Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995897" "0" "30" "6" "75857372" "75857376" "del" "2.32238E-5" "02329" "COL12A1_000190" "g.75857372_75857376del" "" "" "" "COL12A1(NM_004370.6):c.4417+15_4417+19delAAAAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995898" "0" "50" "6" "75858106" "75858106" "subst" "1.22289E-5" "01804" "COL12A1_000191" "g.75858106A>T" "" "" "" "COL12A1(NM_004370.5):c.4255T>A (p.(Tyr1419Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995900" "0" "50" "6" "75862133" "75862133" "subst" "8.14511E-6" "01804" "COL12A1_000192" "g.75862133C>T" "" "" "" "COL12A1(NM_004370.5):c.3631G>A (p.(Gly1211Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995901" "0" "30" "6" "75866144" "75866144" "subst" "8.13253E-6" "01804" "COL12A1_000193" "g.75866144G>A" "" "" "" "COL12A1(NM_004370.5):c.3079C>T (p.(Arg1027Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995902" "0" "50" "6" "75866241" "75866241" "subst" "1.63906E-5" "01804" "COL12A1_000194" "g.75866241T>C" "" "" "" "COL12A1(NM_004370.5):c.2984-2A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995903" "0" "30" "6" "75893583" "75893583" "subst" "0" "01804" "COL12A1_000195" "g.75893583C>T" "" "" "" "COL12A1(NM_004370.5):c.1275G>A (p.(Met425Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001007568" "0" "50" "6" "75840696" "75840696" "subst" "8.1275E-6" "03779" "COL12A1_000196" "g.75840696A>C" "" "" "" "" "" "CLASSIFICATION record" "" "rs540867293" "0" "" "" "" "" "VUS" "" "0001014236" "0" "30" "6" "75822972" "75822972" "subst" "0.000367637" "02326" "COL12A1_000060" "g.75822972A>G" "" "" "" "COL12A1(NM_004370.6):c.7898T>C (p.V2633A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014237" "0" "30" "6" "75823047" "75823047" "subst" "0" "02329" "COL12A1_000197" "g.75823047G>A" "" "" "" "COL12A1(NM_004370.6):c.7841-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001016539" "3" "55" "6" "75799864" "75799864" "subst" "1.62767E-5" "04693" "COL12A1_000198" "g.75799864G>A" "" "{PMID:Ipek 2024:39129837}" "" "" "Confirmed inherited from heterozygous unaffected parents." "Germline" "-" "" "0" "" "" "g.75090148G>A" "{CV:950748}" "VUS" "ACMG" "0001016737" "3" "99" "6" "75858121" "75858121" "subst" "0" "04693" "COL12A1_000199" "g.75858121G>A" "" "{PMID:El Sherif 2024:39087360}" "" "" "Inherited from unaffected heterozygous parents." "Germline" "-" "" "0" "" "" "g.75148405G>A" "{CV:853507}" "pathogenic (recessive)" "ACMG" "0001025262" "0" "30" "6" "75801119" "75801119" "subst" "4.06706E-6" "02329" "COL12A1_000200" "g.75801119T>C" "" "" "" "COL12A1(NM_004370.6):c.8686-14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025267" "0" "50" "6" "75828890" "75828890" "subst" "0.000573824" "02325" "COL12A1_000014" "g.75828890G>A" "" "" "" "COL12A1(NM_004370.6):c.7223C>T (p.T2408M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025273" "0" "50" "6" "75847239" "75847239" "subst" "0.000121991" "02325" "COL12A1_000201" "g.75847239T>C" "" "" "" "COL12A1(NM_004370.6):c.5308A>G (p.T1770A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025276" "0" "30" "6" "75862112" "75862112" "subst" "0.000350092" "02325" "COL12A1_000032" "g.75862112C>T" "" "" "" "COL12A1(NM_004370.6):c.3652G>A (p.V1218M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025277" "0" "50" "6" "75865481" "75865481" "subst" "0" "02329" "COL12A1_000202" "g.75865481C>T" "" "" "" "COL12A1(NM_004370.6):c.3340G>A (p.V1114M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025278" "0" "30" "6" "75890933" "75890934" "ins" "0" "02329" "COL12A1_000203" "g.75890933_75890934insG" "" "" "" "COL12A1(NM_004370.6):c.1892-7_1892-6insC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025279" "0" "50" "6" "75893677" "75893677" "subst" "0" "02329" "COL12A1_000204" "g.75893677A>G" "" "" "" "COL12A1(NM_004370.6):c.1181T>C (p.L394P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035911" "0" "30" "6" "75831004" "75831004" "subst" "3.37881E-5" "02329" "COL12A1_000205" "g.75831004G>A" "" "" "" "COL12A1(NM_004370.6):c.7086+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035914" "0" "30" "6" "75834971" "75834971" "subst" "0.0342773" "01804" "COL12A1_000017" "g.75834971T>A" "" "" "" "COL12A1(NM_004370.6):c.6479A>T (p.E2160V, p.(Glu2160Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035916" "0" "50" "6" "75841697" "75841697" "subst" "0" "01804" "COL12A1_000206" "g.75841697C>T" "" "" "" "COL12A1(NM_004370.6):c.5896G>A (p.(Val1966Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035917" "0" "50" "6" "75841720" "75841720" "subst" "8.13041E-6" "01804" "COL12A1_000207" "g.75841720G>C" "" "" "" "COL12A1(NM_004370.6):c.5873C>G (p.(Pro1958Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035918" "0" "30" "6" "75841754" "75841754" "subst" "0.000174876" "01804" "COL12A1_000208" "g.75841754G>T" "" "" "" "COL12A1(NM_004370.6):c.5839C>A (p.(Pro1947Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035919" "0" "50" "6" "75843078" "75843078" "subst" "0" "01804" "COL12A1_000209" "g.75843078A>G" "" "" "" "COL12A1(NM_004370.6):c.5725T>C (p.(Tyr1909His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035920" "0" "50" "6" "75843651" "75843651" "subst" "4.06699E-5" "01804" "COL12A1_000210" "g.75843651G>A" "" "" "" "COL12A1(NM_004370.6):c.5587C>T (p.(Arg1863Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035925" "0" "50" "6" "75893126" "75893126" "subst" "2.03236E-5" "01804" "COL12A1_000211" "g.75893126G>A" "" "" "" "COL12A1(NM_004370.6):c.1531C>T (p.(Pro511Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035926" "0" "50" "6" "75899415" "75899415" "subst" "4.06894E-6" "01804" "COL12A1_000124" "g.75899415C>G" "" "" "" "COL12A1(NM_004370.6):c.511G>C (p.(Asp171His), p.D171H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046081" "0" "30" "6" "75893706" "75893706" "subst" "0.00032101" "02326" "COL12A1_000123" "g.75893706A>G" "" "" "" "COL12A1(NM_004370.6):c.1152T>C (p.P384=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046082" "0" "30" "6" "75904605" "75904605" "subst" "0.000309913" "02326" "COL12A1_000047" "g.75904605T>C" "" "" "" "COL12A1(NM_004370.6):c.132A>G (p.S44=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052421" "0" "50" "6" "75797401" "75797401" "subst" "2.07024E-5" "01804" "COL12A1_000212" "g.75797401G>C" "" "" "" "COL12A1(NM_004370.6):c.9073C>G (p.(Pro3025Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052422" "0" "50" "6" "75797436" "75797436" "subst" "1.67908E-5" "01804" "COL12A1_000213" "g.75797436G>A" "" "" "" "COL12A1(NM_004370.6):c.9038C>T (p.(Pro3013Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052423" "0" "50" "6" "75899319" "75899319" "subst" "7.36178E-5" "01804" "COL12A1_000090" "g.75899319G>T" "" "" "" "COL12A1(NM_004370.6):c.607C>A (p.(Leu203Ile), p.L203I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001057915" "0" "90" "6" "75899533" "75899533" "subst" "0" "00006" "COL12A1_000215" "g.75899533T>G" "" "{PMID:Ayala-Ramirez 2025:41066171}" "" "" "" "Germline" "" "rs1562310723" "0" "" "" "g.75189817T>G" "{CV:579878}" "pathogenic" "" "0001057924" "0" "50" "6" "75864230" "75864230" "subst" "0" "00006" "COL12A1_000214" "g.75864230T>A" "" "{PMID:Ayala-Ramirez 2025:41066171}" "" "" "" "Germline" "" "rs759294983" "0" "" "" "g.75154514T>A" "{CV:566907}" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes COL12A1 ## Count = 252 "{{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}}" "0000079546" "00005487" "00" "-899792" "0" "2096390" "0" "c.-899792_*2087198del" "r.0?" "p.0?" "" "0000246445" "00005487" "10" "5871" "0" "5871" "0" "c.5871T>A" "r.(?)" "p.(Ala1957=)" "" "0000246446" "00005487" "10" "5213" "0" "5213" "0" "c.5213T>C" "r.(?)" "p.(Ile1738Thr)" "" "0000250075" "00005487" "10" "5871" "0" "5871" "0" "c.5871T>A" "r.(?)" "p.(Ala1957=)" "" "0000250076" "00005487" "10" "5213" "0" "5213" "0" "c.5213T>C" "r.(?)" "p.(Ile1738Thr)" "" "0000250104" "00005487" "10" "2772" "0" "2772" "0" "c.2772T>C" "r.(?)" "p.(Tyr924=)" "" "0000250170" "00005487" "10" "8980" "0" "8980" "0" "c.8980T>C" "r.(?)" "p.(Ser2994Pro)" "" "0000250214" "00005487" "10" "2437" "13" "2437" "13" "c.2437+13T>C" "r.(=)" "p.(=)" "" "0000250215" "00005487" "10" "1892" "-7" "1892" "-7" "c.1892-7del" "r.(=)" "p.(=)" "" "0000250290" "00005487" "30" "489" "0" "489" "0" "c.489T>C" "r.(?)" "p.(Ile163=)" "" "0000250349" "00005487" "30" "5214" "0" "5214" "0" "c.5214T>G" "r.(?)" "p.(Ile1738Met)" "" "0000250398" "00005487" "30" "8237" "0" "8237" "0" "c.8237T>C" "r.(?)" "p.(Val2746Ala)" "" "0000264762" "00005487" "10" "6479" "0" "6479" "0" "c.6479A>T" "r.(?)" "p.(Glu2160Val)" "" "0000264764" "00005487" "30" "7698" "-19" "7698" "-15" "c.7698-19_7698-15del" "r.(=)" "p.(=)" "" "0000264765" "00005487" "30" "9083" "0" "9083" "0" "c.9083G>A" "r.(?)" "p.(Arg3028His)" "" "0000264766" "00005487" "10" "9172" "0" "9172" "0" "c.9172G>A" "r.(?)" "p.(Gly3058Ser)" "" "0000268198" "00005487" "30" "1117" "0" "1117" "0" "c.1117G>T" "r.(?)" "p.(Ala373Ser)" "" "0000268199" "00005487" "30" "132" "0" "132" "0" "c.132A>G" "r.(?)" "p.(Ser44=)" "" "0000268202" "00005487" "10" "1892" "-7" "1892" "-7" "c.1892-7dup" "r.(=)" "p.(=)" "" "0000268203" "00005487" "10" "2164" "18" "2164" "18" "c.2164+18C>A" "r.(=)" "p.(=)" "" "0000268204" "00005487" "30" "3652" "0" "3652" "0" "c.3652G>A" "r.(?)" "p.(Val1218Met)" "" "0000268205" "00005487" "10" "4001" "-10" "4001" "-10" "c.4001-10G>A" "r.(=)" "p.(=)" "" "0000268206" "00005487" "10" "4917" "0" "4917" "0" "c.4917C>T" "r.(?)" "p.(Asp1639=)" "" "0000268207" "00005487" "30" "5005" "0" "5005" "0" "c.5005G>C" "r.(?)" "p.(Glu1669Gln)" "" "0000268208" "00005487" "10" "5225" "0" "5225" "0" "c.5225G>A" "r.(?)" "p.(Arg1742His)" "" "0000268210" "00005487" "10" "5508" "0" "5508" "0" "c.5508G>A" "r.(?)" "p.(Thr1836=)" "" "0000268211" "00005487" "10" "5727" "0" "5727" "0" "c.5727C>T" "r.(?)" "p.(Tyr1909=)" "" "0000268212" "00005487" "30" "5874" "0" "5874" "0" "c.5874A>G" "r.(?)" "p.(Pro1958=)" "" "0000268213" "00005487" "10" "6198" "0" "6198" "0" "c.6198A>C" "r.(?)" "p.(Pro2066=)" "" "0000268214" "00005487" "10" "626" "0" "626" "0" "c.626A>C" "r.(?)" "p.(Lys209Thr)" "" "0000268215" "00005487" "30" "6281" "0" "6281" "0" "c.6281C>A" "r.(?)" "p.(Thr2094Asn)" "" "0000268216" "00005487" "10" "6479" "0" "6479" "0" "c.6479A>T" "r.(?)" "p.(Glu2160Val)" "" "0000268217" "00005487" "10" "6848" "0" "6848" "0" "c.6848G>A" "r.(?)" "p.(Gly2283Glu)" "" "0000268218" "00005487" "30" "7223" "0" "7223" "0" "c.7223C>T" "r.(?)" "p.(Thr2408Met)" "" "0000268219" "00005487" "10" "7299" "0" "7299" "0" "c.7299G>T" "r.(?)" "p.(Thr2433=)" "" "0000268220" "00005487" "30" "7437" "0" "7437" "0" "c.7437C>T" "r.(?)" "p.(His2479=)" "" "0000268221" "00005487" "10" "7698" "-19" "7698" "-15" "c.7698-19_7698-15del" "r.(=)" "p.(=)" "" "0000268222" "00005487" "10" "7786" "0" "7786" "0" "c.7786A>G" "r.(?)" "p.(Ile2596Val)" "" "0000268223" "00005487" "30" "8097" "0" "8097" "0" "c.8097C>T" "r.(?)" "p.(Ala2699=)" "" "0000268224" "00005487" "10" "8265" "19" "8265" "19" "c.8265+19A>T" "r.(=)" "p.(=)" "" "0000268225" "00005487" "30" "8565" "0" "8565" "0" "c.8565A>G" "r.(?)" "p.(Pro2855=)" "" "0000268226" "00005487" "10" "9083" "0" "9083" "0" "c.9083G>A" "r.(?)" "p.(Arg3028His)" "" "0000268227" "00005487" "10" "9172" "0" "9172" "0" "c.9172G>A" "r.(?)" "p.(Gly3058Ser)" "" "0000268228" "00005487" "30" "997" "14" "997" "14" "c.997+14G>A" "r.(=)" "p.(=)" "" "0000273820" "00005487" "50" "8570" "0" "8570" "0" "c.8570G>A" "r.(?)" "p.(Gly2857Glu)" "" "0000331093" "00005487" "50" "6448" "0" "6448" "0" "c.6448T>C" "r.(?)" "p.(Tyr2150His)" "" "0000331094" "00005487" "50" "2481" "0" "2481" "0" "c.2481G>A" "r.(?)" "p.(Thr827=)" "" "0000331095" "00005487" "50" "2393" "0" "2393" "0" "c.2393C>T" "r.(?)" "p.(Ser798Leu)" "" "0000331096" "00005487" "50" "2275" "0" "2275" "0" "c.2275C>T" "r.(?)" "p.(Pro759Ser)" "" "0000338716" "00005487" "90" "8100" "2" "8100" "2" "c.8100+2T>C" "r.spl?" "p.?" "" "0000341682" "00005487" "70" "3160" "0" "3160" "0" "c.3160C>T" "r.(?)" "p.(Arg1054Ter)" "" "0000341921" "00005487" "50" "4301" "0" "4301" "0" "c.4301G>A" "r.(?)" "p.(Arg1434Gln)" "" "0000342210" "00005487" "50" "6167" "0" "6167" "0" "c.6167G>A" "r.(?)" "p.(Arg2056Lys)" "" "0000349357" "00005487" "30" "6214" "0" "6214" "0" "c.6214A>G" "r.(?)" "p.(Thr2072Ala)" "" "0000350004" "00005487" "50" "7534" "0" "7534" "0" "c.7534T>C" "r.(?)" "p.(Tyr2512His)" "" "0000350365" "00005487" "50" "5554" "0" "5554" "0" "c.5554G>A" "r.(?)" "p.(Val1852Met)" "" "0000351363" "00005487" "90" "7840" "1" "7840" "1" "c.7840+1G>A" "r.spl?" "p.?" "" "0000439049" "00005487" "50" "7223" "0" "7223" "0" "c.7223C>T" "r.(?)" "p.Thr2408Met" "" "0000439736" "00005487" "50" "1006" "0" "1006" "0" "c.1006C>T" "r.(?)" "p.Pro336Ser" "" "0000529650" "00005487" "30" "9010" "15" "9010" "15" "c.9010+15A>G" "r.(=)" "p.(=)" "" "0000529695" "00005487" "90" "8365" "0" "8365" "0" "c.8365G>C" "r.(?)" "p.(Gly2789Arg)" "" "0000529701" "00005487" "30" "8265" "11" "8265" "11" "c.8265+11T>C" "r.(=)" "p.(=)" "" "0000529716" "00005487" "30" "7840" "12" "7840" "12" "c.7840+12del" "r.(=)" "p.(=)" "" "0000529717" "00005487" "50" "7596" "0" "7596" "0" "c.7596G>T" "r.(?)" "p.(Lys2532Asn)" "" "0000529719" "00005487" "30" "7257" "0" "7257" "0" "c.7257C>T" "r.(?)" "p.(Ser2419=)" "" "0000529720" "00005487" "50" "7108" "0" "7108" "0" "c.7108G>A" "r.(?)" "p.(Asp2370Asn)" "" "0000529728" "00005487" "30" "6590" "0" "6590" "0" "c.6590C>T" "r.(?)" "p.(Thr2197Ile)" "" "0000529759" "00005487" "30" "5252" "-11" "5252" "-11" "c.5252-11T>C" "r.(=)" "p.(=)" "" "0000529763" "00005487" "30" "4876" "0" "4876" "0" "c.4876T>G" "r.(?)" "p.(Ser1626Ala)" "" "0000529804" "00005487" "30" "3070" "0" "3070" "0" "c.3070G>A" "r.(?)" "p.(Val1024Ile)" "" "0000529806" "00005487" "30" "2965" "0" "2965" "0" "c.2965G>A" "r.(?)" "p.(Gly989Arg)" "" "0000529807" "00005487" "30" "2637" "0" "2637" "0" "c.2637C>T" "r.(?)" "p.(Tyr879=)" "" "0000529808" "00005487" "10" "2481" "0" "2481" "0" "c.2481G>A" "r.(?)" "p.(Thr827=)" "" "0000529810" "00005487" "10" "2086" "0" "2086" "0" "c.2086T>C" "r.(?)" "p.(Leu696=)" "" "0000529811" "00005487" "10" "2007" "0" "2007" "0" "c.2007G>A" "r.(?)" "p.(Ala669=)" "" "0000529812" "00005487" "10" "1892" "-8" "1892" "-6" "c.1892-8_1892-6del" "r.(=)" "p.(=)" "" "0000529816" "00005487" "10" "1892" "-8" "1892" "-7" "c.1892-8_1892-7dup" "r.(=)" "p.(=)" "" "0000529818" "00005487" "10" "1892" "-7" "1892" "-7" "c.1892-7dup" "r.(=)" "p.(=)" "" "0000529819" "00005487" "30" "1892" "-7" "1892" "-7" "c.1892-7dup" "r.(=)" "p.(=)" "" "0000529820" "00005487" "10" "1551" "0" "1551" "0" "c.1551A>G" "r.(?)" "p.(Thr517=)" "" "0000529824" "00005487" "50" "1043" "0" "1043" "0" "c.1043A>T" "r.(?)" "p.(Lys348Ile)" "" "0000529825" "00005487" "10" "834" "0" "834" "0" "c.834T>G" "r.(?)" "p.(Ala278=)" "" "0000529826" "00005487" "30" "673" "0" "673" "0" "c.673T>G" "r.(?)" "p.(Tyr225Asp)" "" "0000529828" "00005487" "30" "108" "0" "108" "0" "c.108A>C" "r.(?)" "p.(Ile36=)" "" "0000597890" "00005487" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_28_" "0000610489" "00005487" "30" "7854" "0" "7854" "0" "c.7854G>C" "r.(?)" "p.(Thr2618=)" "" "0000621768" "00005487" "10" "1892" "-7" "1892" "-7" "c.1892-7dup" "r.(=)" "p.(=)" "" "0000647282" "00005487" "70" "7992" "0" "7992" "0" "c.7992del" "r.(?)" "p.(Ile2664MetfsTer7)" "" "0000652048" "00005487" "50" "9083" "0" "9083" "0" "c.9083G>A" "r.(?)" "p.(Arg3028His)" "" "0000652051" "00005487" "30" "8237" "0" "8237" "0" "c.8237T>C" "r.(?)" "p.(Val2746Ala)" "" "0000652055" "00005487" "30" "6281" "0" "6281" "0" "c.6281C>A" "r.(?)" "p.(Thr2094Asn)" "" "0000652057" "00005487" "10" "5508" "0" "5508" "0" "c.5508G>A" "r.(=)" "p.(=)" "" "0000652058" "00005487" "50" "5467" "0" "5467" "0" "c.5467G>A" "r.(?)" "p.(Val1823Ile)" "" "0000652059" "00005487" "10" "5225" "0" "5225" "0" "c.5225G>A" "r.(?)" "p.(Arg1742His)" "" "0000655658" "00005487" "30" "3251" "-66" "3251" "-66" "c.3251-66A>G" "r.(=)" "p.(=)" "" "0000655659" "00005487" "50" "2696" "0" "2696" "0" "c.2696G>A" "r.(?)" "p.(Gly899Glu)" "" "0000655660" "00005487" "30" "1326" "0" "1326" "0" "c.1326G>A" "r.(?)" "p.(Val442=)" "" "0000659707" "00005487" "50" "9044" "0" "9044" "0" "c.9044G>A" "r.(?)" "p.(Gly3015Glu)" "" "0000669932" "00005487" "50" "9083" "0" "9083" "0" "c.9083G>A" "r.(?)" "p.(Arg3028His)" "" "0000669933" "00005487" "30" "8237" "0" "8237" "0" "c.8237T>C" "r.(?)" "p.(Val2746Ala)" "" "0000677869" "00005487" "50" "9064" "0" "9064" "0" "c.9064C>T" "r.(?)" "p.(Pro3022Ser)" "" "0000677871" "00005487" "50" "8714" "0" "8714" "0" "c.8714G>A" "r.(?)" "p.(Arg2905Gln)" "" "0000677876" "00005487" "30" "7257" "0" "7257" "0" "c.7257C>T" "r.(?)" "p.(Ser2419=)" "" "0000677878" "00005487" "30" "6718" "0" "6718" "0" "c.6718G>A" "r.(?)" "p.(Ala2240Thr)" "" "0000677881" "00005487" "30" "6062" "0" "6062" "0" "c.6062G>A" "r.(?)" "p.(Arg2021Gln)" "" "0000677885" "00005487" "30" "4335" "0" "4335" "0" "c.4335A>G" "r.(?)" "p.(Lys1445=)" "" "0000677887" "00005487" "50" "4000" "5" "4000" "5" "c.4000+5G>A" "r.spl?" "p.?" "" "0000677888" "00005487" "30" "1117" "0" "1117" "0" "c.1117G>T" "r.(?)" "p.(Ala373Ser)" "" "0000677889" "00005487" "50" "236" "0" "236" "0" "c.236C>T" "r.(?)" "p.(Thr79Ile)" "" "0000689802" "00005487" "30" "6872" "-32" "6872" "-32" "c.6872-32G>C" "r.(=)" "p.(=)" "" "0000697405" "00005487" "70" "6427" "0" "6427" "0" "c.6427G>T" "r.(?)" "p.(Val2143Phe)" "" "0000721065" "00005487" "30" "9083" "0" "9083" "0" "c.9083G>A" "r.(?)" "p.(Arg3028His)" "" "0000721066" "00005487" "30" "9083" "0" "9083" "0" "c.9083G>A" "r.(?)" "p.(Arg3028His)" "" "0000721069" "00005487" "30" "8649" "329" "8649" "329" "c.8649+329C>T" "r.(=)" "p.(=)" "" "0000721070" "00005487" "30" "8622" "0" "8622" "0" "c.8622A>G" "r.(?)" "p.(Pro2874=)" "" "0000721071" "00005487" "30" "8622" "0" "8622" "0" "c.8622A>G" "r.(?)" "p.(Pro2874=)" "" "0000721076" "00005487" "30" "8237" "0" "8237" "0" "c.8237T>C" "r.(?)" "p.(Val2746Ala)" "" "0000721077" "00005487" "50" "7746" "0" "7746" "0" "c.7746A>T" "r.(?)" "p.(Leu2582Phe)" "" "0000721080" "00005487" "50" "6544" "0" "6544" "0" "c.6544G>A" "r.(?)" "p.(Val2182Met)" "" "0000721085" "00005487" "50" "6074" "0" "6074" "0" "c.6074G>A" "r.(?)" "p.(Arg2025His)" "" "0000721086" "00005487" "50" "5467" "0" "5467" "0" "c.5467G>A" "r.(?)" "p.(Val1823Ile)" "" "0000721087" "00005487" "50" "5411" "0" "5411" "0" "c.5411G>A" "r.(?)" "p.(Arg1804Gln)" "" "0000721093" "00005487" "50" "3767" "0" "3767" "0" "c.3767A>G" "r.(?)" "p.(His1256Arg)" "" "0000721094" "00005487" "50" "3753" "0" "3753" "0" "c.3753G>A" "r.(?)" "p.(Trp1251Ter)" "" "0000721095" "00005487" "50" "2260" "0" "2260" "0" "c.2260C>T" "r.(?)" "p.(Arg754*)" "" "0000721096" "00005487" "50" "2038" "0" "2038" "0" "c.2038C>G" "r.(?)" "p.(Pro680Ala)" "" "0000721097" "00005487" "50" "1150" "0" "1150" "0" "c.1150C>T" "r.(?)" "p.(Pro384Ser)" "" "0000721098" "00005487" "30" "1015" "0" "1015" "0" "c.1015A>G" "r.(?)" "p.(Asn339Asp)" "" "0000721099" "00005487" "30" "922" "0" "922" "0" "c.922A>T" "r.(?)" "p.(Ile308Phe)" "" "0000721100" "00005487" "50" "607" "0" "607" "0" "c.607C>A" "r.(?)" "p.(Leu203Ile)" "" "0000721101" "00005487" "30" "597" "0" "597" "0" "c.597A>G" "r.(?)" "p.(Gln199=)" "" "0000721102" "00005487" "50" "469" "0" "469" "0" "c.469A>G" "r.(?)" "p.(Lys157Glu)" "" "0000721103" "00005487" "30" "394" "133" "394" "133" "c.394+133C>T" "r.(=)" "p.(=)" "" "0000787241" "00005487" "50" "7951" "0" "7951" "0" "c.7951G>T" "r.(?)" "p.(Val2651Phe)" "52" "0000802716" "00005487" "50" "7853" "0" "7853" "0" "c.7853C>T" "r.(?)" "p.(Thr2618Met)" "" "0000802721" "00005487" "30" "6590" "0" "6590" "0" "c.6590C>T" "r.(?)" "p.(Thr2197Ile)" "" "0000802731" "00005487" "30" "3231" "0" "3231" "0" "c.3231G>A" "r.(?)" "p.(Arg1077=)" "" "0000802732" "00005487" "30" "1152" "0" "1152" "0" "c.1152T>C" "r.(?)" "p.(Pro384=)" "" "0000802733" "00005487" "50" "511" "0" "511" "0" "c.511G>C" "r.(?)" "p.(Asp171His)" "" "0000823971" "00005487" "50" "1112" "0" "1112" "0" "c.1112T>C" "r.(?)" "p.(Met371Thr)" "9" "0000824878" "00005487" "50" "9010" "2" "9010" "2" "c.9010+2T>C" "r.spl?" "p.?" "64" "0000851306" "00005487" "30" "6752" "0" "6752" "0" "c.6752G>A" "r.(?)" "p.(Arg2251His)" "" "0000851308" "00005487" "10" "6210" "13" "6210" "13" "c.6210+13C>T" "r.(=)" "p.(=)" "" "0000851320" "00005487" "30" "4000" "5" "4000" "5" "c.4000+5G>A" "r.spl?" "p.?" "" "0000851321" "00005487" "10" "1892" "-8" "1892" "-7" "c.1892-8_1892-7dup" "r.(=)" "p.(=)" "" "0000860504" "00005487" "30" "8320" "-16" "8320" "-16" "c.8320-16C>G" "r.(=)" "p.(=)" "" "0000860505" "00005487" "70" "7246" "0" "7250" "0" "c.7246_7250del" "r.(?)" "p.(Thr2416Glyfs*10)" "" "0000860512" "00005487" "30" "4000" "5" "4000" "5" "c.4000+5G>A" "r.spl?" "p.?" "" "0000860513" "00005487" "30" "3831" "0" "3831" "0" "c.3831C>G" "r.(?)" "p.(Leu1277=)" "" "0000878067" "00005487" "50" "5261" "0" "5261" "0" "c.5261G>T" "r.(?)" "p.(Gly1754Val)" "48" "0000878072" "00005487" "50" "796" "0" "796" "0" "c.796A>C" "r.(?)" "p.(Asn266His)" "7" "0000878106" "00005487" "50" "6724" "1" "6724" "1" "c.6724+1G>T" "r.spl" "p.?" "41i" "0000878112" "00005487" "50" "5878" "0" "5878" "0" "c.5878C>T" "r.(?)" "p.(Pro1960Ser)" "35" "0000878120" "00005487" "50" "8100" "3" "8100" "3" "c.8100+3G>A" "r.spl?" "p.?" "52i" "0000878128" "00005487" "50" "7869" "0" "7869" "0" "c.7869C>A" "r.(?)" "p.(Asn2623Lys)" "51" "0000878130" "00005487" "50" "1483" "0" "1483" "0" "c.1483A>G" "r.(?)" "p.(Lys495Glu)" "10" "0000878144" "00005487" "50" "3881" "0" "3881" "0" "c.3881C>G" "r.(?)" "p.(Ala1294Gly)" "20" "0000878146" "00005487" "50" "350" "0" "350" "0" "c.350C>T" "r.(?)" "p.(Ser117Leu)" "5" "0000878152" "00005487" "70" "8753" "0" "8753" "0" "c.8753G>T" "r.(?)" "p.(Gly2918Val)" "63" "0000878162" "00005487" "50" "2062" "0" "2062" "0" "c.2062C>G" "r.(?)" "p.(Leu688Val)" "11" "0000878169" "00005487" "50" "7166" "0" "7166" "0" "c.7166G>C" "r.(?)" "p.(Gly2389Ala)" "45" "0000878199" "00005487" "50" "3247" "0" "3247" "0" "c.3247A>G" "r.(?)" "p.(Thr1083Ala)" "15" "0000878200" "00005487" "50" "4900" "0" "4900" "0" "c.4900G>A" "r.(?)" "p.(Val1634Ile)" "27" "0000887442" "00005487" "50" "7948" "0" "7948" "0" "c.7948A>G" "r.(?)" "p.(Lys2650Glu)" "" "0000887443" "00005487" "30" "7698" "-206" "7698" "-206" "c.7698-206T>C" "r.(=)" "p.(=)" "" "0000887449" "00005487" "30" "6848" "0" "6848" "0" "c.6848G>A" "r.(?)" "p.(Gly2283Glu)" "" "0000887464" "00005487" "30" "1892" "-8" "1892" "-7" "c.1892-8_1892-7dup" "r.(=)" "p.(=)" "" "0000912579" "00005487" "30" "1892" "-7" "1892" "-6" "c.1892-7_1892-6del" "r.(=)" "p.(=)" "" "0000912580" "00005487" "30" "1821" "0" "1821" "0" "c.1821G>A" "r.(?)" "p.(Arg607=)" "" "0000912581" "00005487" "50" "1171" "0" "1171" "0" "c.1171G>T" "r.(?)" "p.(Val391Phe)" "" "0000912582" "00005487" "50" "196" "0" "196" "0" "c.196C>T" "r.(?)" "p.(Pro66Ser)" "" "0000918868" "00005487" "50" "6313" "0" "6313" "0" "c.6313G>A" "r.(?)" "p.(Gly2105Ser)" "38" "0000918870" "00005487" "50" "5893" "0" "5893" "0" "c.5893C>T" "r.(?)" "p.(Arg1965Cys)" "35" "0000918878" "00005487" "50" "7730" "0" "7730" "0" "c.7730A>C" "r.(?)" "p.(Tyr2577Ser)" "50" "0000918882" "00005487" "50" "8336" "0" "8336" "0" "c.8336G>A" "r.(?)" "p.(Arg2779His)" "56" "0000918892" "00005487" "50" "922" "0" "922" "0" "c.922A>T" "r.(?)" "p.(Ile308Phe)" "8" "0000918896" "00005487" "50" "6441" "0" "6441" "0" "c.6441A>T" "r.(?)" "p.(Lys2147Asn)" "39" "0000918900" "00005487" "50" "2496" "0" "2496" "0" "c.2496A>T" "r.(?)" "p.(Leu832Phe)" "13" "0000918901" "00005487" "50" "3168" "0" "3168" "0" "c.3168G>T" "r.(?)" "p.(Gln1056His)" "15" "0000918903" "00005487" "50" "922" "0" "922" "0" "c.922A>T" "r.(?)" "p.(Ile308Phe)" "8" "0000918905" "00005487" "50" "2510" "0" "2510" "0" "c.2510C>T" "r.(?)" "p.(Ala837Val)" "13" "0000918906" "00005487" "50" "2510" "0" "2510" "0" "c.2510C>T" "r.(?)" "p.(Ala837Val)" "13" "0000922737" "00005487" "90" "6479" "0" "6479" "0" "c.6479A>T" "r.(?)" "p.(Glu2160Val)" "" "0000924563" "00005487" "30" "8725" "0" "8725" "0" "c.8725A>C" "r.(?)" "p.(Arg2909=)" "" "0000924564" "00005487" "10" "8650" "-19" "8650" "-19" "c.8650-19T>A" "r.(=)" "p.(=)" "" "0000924567" "00005487" "50" "7569" "0" "7569" "0" "c.7569G>A" "r.(?)" "p.(Met2523Ile)" "" "0000924569" "00005487" "30" "7211" "-11" "7211" "-11" "c.7211-11A>G" "r.(=)" "p.(=)" "" "0000924572" "00005487" "10" "6068" "-14" "6068" "-14" "c.6068-14T>A" "r.(=)" "p.(=)" "" "0000924574" "00005487" "30" "2676" "0" "2676" "0" "c.2676A>C" "r.(?)" "p.(Gly892=)" "" "0000924575" "00005487" "50" "1871" "0" "1871" "0" "c.1871T>G" "r.(?)" "p.(Leu624Trp)" "" "0000929237" "00005487" "70" "7803" "0" "7806" "0" "c.7803_7806del" "r.(?)" "p.(Asp2601Glufs*9)" "" "0000929238" "00005487" "30" "7520" "-204" "7520" "-204" "c.7520-204A>G" "r.(=)" "p.(=)" "" "0000929243" "00005487" "30" "2165" "-146" "2165" "-146" "c.2165-146C>T" "r.(=)" "p.(=)" "" "0000945983" "00005487" "90" "7840" "1" "7840" "1" "c.7840+1G>A" "r.spl" "p.?" "" "0000945984" "00005487" "90" "8100" "2" "8100" "2" "c.8100+2T>C" "r.spl" "p.?" "" "0000946061" "00005487" "50" "7534" "0" "7534" "0" "c.7534T>C" "r.(?)" "p.(Tyr2512His)" "" "0000946062" "00005487" "50" "3376" "0" "3376" "0" "c.3376G>C" "r.(?)" "p.(Asp1126His)" "" "0000946123" "00005487" "50" "4301" "0" "4301" "0" "c.4301G>A" "r.(?)" "p.(Arg1434Gln)" "" "0000948759" "00005487" "50" "9166" "0" "9166" "0" "c.9166G>A" "r.(?)" "p.(Gly3056Arg)" "" "0000948767" "00005487" "50" "5075" "0" "5075" "0" "c.5075T>C" "r.(?)" "p.(Phe1692Ser)" "" "0000948774" "00005487" "10" "2711" "-15" "2711" "-15" "c.2711-15T>C" "r.(=)" "p.(=)" "" "0000948775" "00005487" "30" "1644" "0" "1644" "0" "c.1644C>A" "r.(?)" "p.(=)" "" "0000948776" "00005487" "30" "695" "0" "695" "0" "c.695C>T" "r.(?)" "p.(Thr232Met)" "" "0000964241" "00005487" "30" "8649" "110" "8649" "110" "c.8649+110A>C" "r.(=)" "p.(=)" "" "0000964243" "00005487" "30" "8577" "244" "8577" "244" "c.8577+244C>T" "r.(=)" "p.(=)" "" "0000964247" "00005487" "30" "7950" "165" "7950" "165" "c.7950+165A>C" "r.(=)" "p.(=)" "" "0000964256" "00005487" "30" "3251" "-74" "3251" "-74" "c.3251-74G>T" "r.(=)" "p.(=)" "" "0000964259" "00005487" "10" "1892" "-8" "1892" "-7" "c.1892-8_1892-7dup" "r.(=)" "p.(=)" "" "0000977342" "00005487" "30" "9181" "98" "9181" "98" "c.9181+98G>T" "r.(=)" "p.(=)" "" "0000977360" "00005487" "30" "5133" "0" "5133" "0" "c.5133C>T" "r.(?)" "p.(=)" "" "0000977361" "00005487" "30" "5005" "0" "5005" "0" "c.5005G>C" "r.(?)" "p.(Glu1669Gln)" "" "0000977367" "00005487" "10" "4245" "0" "4245" "0" "c.4245T>C" "r.(?)" "p.(=)" "" "0000977369" "00005487" "30" "4000" "94" "4000" "94" "c.4000+94A>G" "r.(=)" "p.(=)" "" "0000977370" "00005487" "30" "3444" "-98" "3444" "-98" "c.3444-98T>C" "r.(=)" "p.(=)" "" "0000995888" "00005487" "30" "6323" "0" "6323" "0" "c.6323C>T" "r.(?)" "p.(Thr2108Ile)" "" "0000995890" "00005487" "30" "5524" "162" "5524" "162" "c.5524+162G>C" "r.(=)" "p.(=)" "" "0000995893" "00005487" "50" "5098" "-38" "5098" "-38" "c.5098-38A>G" "r.(=)" "p.(=)" "" "0000995895" "00005487" "50" "4651" "0" "4651" "0" "c.4651G>A" "r.(?)" "p.(Asp1551Asn)" "" "0000995897" "00005487" "30" "4417" "15" "4417" "19" "c.4417+15_4417+19del" "r.(=)" "p.(=)" "" "0000995898" "00005487" "50" "4255" "0" "4255" "0" "c.4255T>A" "r.(?)" "p.(Tyr1419Asn)" "" "0000995900" "00005487" "50" "3631" "0" "3631" "0" "c.3631G>A" "r.(?)" "p.(Gly1211Ser)" "" "0000995901" "00005487" "30" "3079" "0" "3079" "0" "c.3079C>T" "r.(?)" "p.(Arg1027Cys)" "" "0000995902" "00005487" "50" "2984" "-2" "2984" "-2" "c.2984-2A>G" "r.spl?" "p.?" "" "0000995903" "00005487" "30" "1275" "0" "1275" "0" "c.1275G>A" "r.(?)" "p.(Met425Ile)" "" "0001007568" "00005487" "50" "5939" "0" "5939" "0" "c.5939T>G" "r.(?)" "p.(Ile1980Arg)" "" "0001014236" "00005487" "30" "7898" "0" "7898" "0" "c.7898T>C" "r.(?)" "p.(Val2633Ala)" "" "0001014237" "00005487" "30" "7841" "-18" "7841" "-18" "c.7841-18C>T" "r.(=)" "p.(=)" "" "0001016539" "00005487" "55" "8903" "0" "8903" "0" "c.8903C>T" "r.(?)" "p.(Pro2968Leu)" "63" "0001016737" "00005487" "99" "4240" "0" "4240" "0" "c.4240C>T" "r.(?)" "p.(Arg1414*)" "22" "0001025262" "00005487" "30" "8686" "-14" "8686" "-14" "c.8686-14A>G" "r.(=)" "p.(=)" "" "0001025267" "00005487" "50" "7223" "0" "7223" "0" "c.7223C>T" "r.(?)" "p.(Thr2408Met)" "" "0001025273" "00005487" "50" "5308" "0" "5308" "0" "c.5308A>G" "r.(?)" "p.(Thr1770Ala)" "" "0001025276" "00005487" "30" "3652" "0" "3652" "0" "c.3652G>A" "r.(?)" "p.(Val1218Met)" "" "0001025277" "00005487" "50" "3340" "0" "3340" "0" "c.3340G>A" "r.(?)" "p.(Val1114Met)" "" "0001025278" "00005487" "30" "1892" "-7" "1892" "-6" "c.1892-7_1892-6insC" "r.(=)" "p.(=)" "" "0001025279" "00005487" "50" "1181" "0" "1181" "0" "c.1181T>C" "r.(?)" "p.(Leu394Pro)" "" "0001035911" "00005487" "30" "7086" "14" "7086" "14" "c.7086+14C>T" "r.(=)" "p.(=)" "" "0001035914" "00005487" "30" "6479" "0" "6479" "0" "c.6479A>T" "r.(?)" "p.(Glu2160Val)" "" "0001035916" "00005487" "50" "5896" "0" "5896" "0" "c.5896G>A" "r.(?)" "p.(Val1966Ile)" "" "0001035917" "00005487" "50" "5873" "0" "5873" "0" "c.5873C>G" "r.(?)" "p.(Pro1958Arg)" "" "0001035918" "00005487" "30" "5839" "0" "5839" "0" "c.5839C>A" "r.(?)" "p.(Pro1947Thr)" "" "0001035919" "00005487" "50" "5725" "0" "5725" "0" "c.5725T>C" "r.(?)" "p.(Tyr1909His)" "" "0001035920" "00005487" "50" "5587" "0" "5587" "0" "c.5587C>T" "r.(?)" "p.(Arg1863Cys)" "" "0001035925" "00005487" "50" "1531" "0" "1531" "0" "c.1531C>T" "r.(?)" "p.(Pro511Ser)" "" "0001035926" "00005487" "50" "511" "0" "511" "0" "c.511G>C" "r.(?)" "p.(Asp171His)" "" "0001046081" "00005487" "30" "1152" "0" "1152" "0" "c.1152T>C" "r.(?)" "p.(Pro384=)" "" "0001046082" "00005487" "30" "132" "0" "132" "0" "c.132A>G" "r.(?)" "p.(Ser44=)" "" "0001052421" "00005487" "50" "9073" "0" "9073" "0" "c.9073C>G" "r.(?)" "p.(Pro3025Ala)" "" "0001052422" "00005487" "50" "9038" "0" "9038" "0" "c.9038C>T" "r.(?)" "p.(Pro3013Leu)" "" "0001052423" "00005487" "50" "607" "0" "607" "0" "c.607C>A" "r.(?)" "p.(Leu203Ile)" "" "0001057915" "00005487" "90" "395" "-2" "395" "-2" "c.395-2A>C" "r.spl" "p.?" "" "0001057924" "00005487" "50" "3467" "0" "3467" "0" "c.3467A>T" "r.(?)" "p.(Asn1156Ile)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 53 "{{screeningid}}" "{{variantid}}" "0000050566" "0000079546" "0000208986" "0000439049" "0000209582" "0000439736" "0000267030" "0000597890" "0000290596" "0000647282" "0000295359" "0000652048" "0000295362" "0000652051" "0000295366" "0000652055" "0000295368" "0000652057" "0000295369" "0000652058" "0000295370" "0000652059" "0000297093" "0000659707" "0000306244" "0000669932" "0000306245" "0000669933" "0000315316" "0000697405" "0000375890" "0000787241" "0000393250" "0000823971" "0000393995" "0000824878" "0000418311" "0000878067" "0000418316" "0000878072" "0000418325" "0000878199" "0000418325" "0000878200" "0000418350" "0000878106" "0000418356" "0000878112" "0000418364" "0000878120" "0000418372" "0000878128" "0000418374" "0000878130" "0000418388" "0000878144" "0000418390" "0000878146" "0000418396" "0000878152" "0000418406" "0000878162" "0000418413" "0000878169" "0000433227" "0000918905" "0000433227" "0000918906" "0000433233" "0000918868" "0000433235" "0000918870" "0000433243" "0000918878" "0000433247" "0000918882" "0000433257" "0000918892" "0000433261" "0000918896" "0000433265" "0000918900" "0000433266" "0000918901" "0000433268" "0000918903" "0000436366" "0000922737" "0000444126" "0000945983" "0000444127" "0000945984" "0000444204" "0000946061" "0000444205" "0000946062" "0000444267" "0000946123" "0000458921" "0001016539" "0000459028" "0001016737" "0000469900" "0001057915" "0000469909" "0001057924"