### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FAM20C) # 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}}" "FAM20C" "family with sequence similarity 20, member C" "7" "p22.3" "unknown" "NG_033970.1" "UD_136020029684" "" "https://www.LOVD.nl/FAM20C" "" "1" "22140" "56975" "611061" "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/FAM20C_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-09-11 12:29:29" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00007401" "FAM20C" "family with sequence similarity 20, member C" "001" "NM_020223.3" "" "NP_064608.2" "" "" "" "-231" "2549" "1755" "192969" "300740" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00004" "KTZS" "Kohlschutter-Tonz syndrome" "AR" "226750" "" "" "" "00002" "2012-05-23 08:55:16" "00006" "2021-12-10 21:51:32" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00624" "RNS" "Raine syndrome" "AR" "259775" "" "" "autosomal recessive" "00006" "2014-09-25 23:29:40" "00006" "2025-02-06 14:20:13" "01371" "HD" "Huntington disease (HD)" "AD" "143100" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02053" "-" "Reticular dysgenesis" "AR" "267500" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02477" "MLC" "leukoencephalopathy, megalencephalic, with subcortical cysts (MLC)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-05-18 10:04:14" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" "06886" "HR" "hypophosphataemic rickets" "" "" "" "" "" "00006" "2021-12-18 20:30:38" "00006" "2021-12-18 20:31:29" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "FAM20C" "00139" "FAM20C" "00624" ## Individuals ## Do not remove or alter this header ## ## Count = 48 "{{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}}" "00000069" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000070" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00081365" "" "" "" "1" "" "01706" "Kay, submitted EJHG" "" "" "" "Peru" "" "0" "" "" "" "" "00263973" "" "" "" "1" "" "03414" "" "" "" "" "" "" "0" "" "" "" "" "00264098" "" "" "" "1" "" "00006" "{PMID:Simpson 2007:17924334}" "" "M" "no" "" "<10d" "0" "" "" "" "Pat1" "00264099" "" "" "" "1" "" "00006" "{PMID:Simpson 2007:17924334}, {PMID:Kingston 1991:2020859}" "" "M" "yes" "United Kingdom (Great Britain)" "<00y00m10d" "0" "" "" "" "Pat2" "00264100" "" "" "" "1" "" "00006" "{PMID:Simpson 2007:17924334}" "" "M" "yes" "" "<10d" "0" "" "" "" "Pat3" "00264101" "" "" "" "1" "" "00006" "{PMID:Simpson 2007:17924334}, {PMID:Al-Gazali 2003:12868469}" "" "M" "no" "United Arab Emirates" ">00y00m10d" "0" "" "" "" "Pat4" "00264102" "" "" "" "3" "" "00006" "{PMID:Simpson 2007:17924334}, {PMID:Hulskamp 2003:14564151}" "2-generation family, 3 affected sibs, unaffected heterozygous carrier parents" "F" "yes" "Germany" "<00y00m10d" "0" "" "" "Turkey" "Pat5" "00264103" "" "" "" "1" "" "00006" "{PMID:Simpson 2007:17924334}" "" "F" "no" "" ">10d" "0" "" "" "" "Pat6" "00264104" "" "" "" "1" "" "00006" "{PMID:Simpson 2007:17924334}" "" "F" "no" "" "<10d" "0" "" "" "" "Pat7" "00264119" "" "" "" "1" "" "00006" "{PMID:Simpson 2009:19250384}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" "Case1" "00264120" "" "" "" "1" "" "00006" "{PMID:Simpson 2009:19250384}" "2-generation family, 1 affected, unaffected heterozygous carrier fsther" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "Case2" "00264121" "" "" "" "2" "" "00006" "{PMID:Fradin 2011:20825432}" "2-generation family, 2 affected sister, unaffected heterozygous carrier parents" "F" "yes" "France" "" "0" "" "" "" "FamPatII1/2" "00294385" "" "" "" "21" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00331432" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family" "M" "yes" "" "" "0" "" "" "Arab" "09DG00774" "00379707" "" "" "" "1" "" "00000" "{PMID:Wan 2018:30245926}" "" "?" "" "China" "" "0" "" "" "Han Chinese" "R0020" "00387998" "" "" "" "1" "" "04144" "{PMID:Bajaj 2021:33676444}" "2-generation family, 1 affected, unaffected parents" "F" "no" "India" "00y17m" "0" "" "" "India" "patient" "00401654" "" "" "" "1" "" "00006" "{PMID:Thiele 2020:33107440}" "" "F" "" "Germany" "" "0" "" "" "" "Pat3" "00442079" "" "" "" "1" "" "00006" "{PMID:Gorospe 2004:15037685}" "" "F" "" "India" "" "0" "" "" "" "LD11" "00443892" "" "" "" "1" "" "04603" "" "" "F" "" "" "" "" "" "" "" "" "00462237" "" "" "" "1" "cc_by-nc-sa_4.0;1" "01793" "" "" "F" "yes" "Turkey" "" "" "yes" "" "Turkish" "Toraman" "00462258" "" "" "" "1" "" "00006" "{PMID:Ababneh 2013:24039075}" "2-generation family, 1 affected, unaffected heterozygous first-cousin carrier parents" "M" "" "Saudi Arabia" "00y08m" "0" "" "" "" "patient" "00462260" "" "" "" "3" "" "00006" "{PMID:Acevedo 2015:25928877}" "4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Brazil" "" "0" "" "" "" "Fam1PatIV4/5/6" "00462262" "" "" "" "2" "" "00006" "{PMID:Acevedo 2015:25928877}" "6-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives" "M" "yes" "Brazil" "" "0" "" "" "" "Fam2PatVI1/2" "00462263" "" "" "" "1" "" "00006" "{PMID:El-Dessouky 2020:32833257}" "2-generation family, affected fetus, unaffected heterozygous carrier first-cousin parents" "M" "yes" "Egypt" "" "0" "" "" "" "Pat1" "00462264" "" "" "" "1" "" "00006" "{PMID:El-Dessouky 2020:32833257}" "2-generation family, affected fetus (one of a twin), unaffected heterozygous carrier first-cousin parents" "F" "" "Egypt" "" "0" "" "" "" "Pat2" "00462265" "" "" "" "1" "" "00006" "{PMID:El-Dessouky 2020:32833257}" "2-generation family, affected fetus, unaffected heterozygous carrier first-cousin parents" "M" "yes" "Egypt" "" "0" "" "" "" "Pat3" "00462267" "" "" "" "3" "" "00006" "{PMID:Elalaoui 2016:27667191}, {PMID:Mameli 2020:32299476}" "3-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents" "F;M" "yes" "Morocco" "" "0" "" "" "" "FamPatIII7/8/10;Pat6/7" "00462268" "" "" "" "1" "" "00006" "{PMID:Eltan 2020:32337609}" "" "M" "no" "Turkey" "" "0" "" "" "" "patient" "00462269" "" "" "" "1" "" "00006" "{PMID:Eras 2021:34177433}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Turkey" "" "0" "" "" "" "patient" "00462270" "" "" "" "2" "" "00006" "{PMID:Hernandez-Zavala 2020:32093234}" "2-generation family, affected brother/fetus (2M), unaffected heterozygous carrier parents" "M" "" "Mexico" "" "0" "" "" "" "FamPatII1/2" "00462271" "" "" "" "1" "" "00006" "{PMID:Mamedova 2019:31471673}" "" "F" "" "Russian Federation" "" "0" "" "" "Armenia" "patient" "00462272" "" "" "" "1" "" "00006" "{PMID:Sheth 2018:29751744}, {PMID:Mameli 2020:32299476}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "India" "" "0" "" "" "" "Pat1;Pat4" "00462273" "" "" "" "1" "" "00006" "{DOI:Mahmood 2014:10.13070/rs.en.1.890}, {PMID:Mameli 2020:32299476}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Pakistan" "" "0" "" "" "" "patient;Pat5" "00462274" "" "" "" "1" "" "00006" "{PMID:Mameli 2020:32299476}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Italy" "" "0" "" "" "Pakistan" "Pat1" "00462275" "" "" "" "2" "" "00006" "{PMID:Mameli 2020:32299476}" "2-generation family, 2 affected, unaffected heterozygous carrier parents" "M" "yes" "Italy" "" "0" "" "" "Pakistan" "Pat2" "00462276" "" "" "" "1" "" "00006" "{PMID:Mameli 2020:32299476}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Pakistan" "" "0" "" "" "" "Pat3" "00462277" "" "" "" "2" "" "00006" "{PMID:Rafaelsen 2013:23325605}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "" "Norway" "" "0" "" "" "" "patient" "00462278" "" "" "" "1" "" "00006" "{PMID:Rolvien 2018:30151622}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Germany" "" "0" "" "" "" "patient" "00462279" "" "" "" "1" "" "00006" "{PMID:Tamai 2017:29341424}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Japan" "" "0" "" "" "" "patient" "00462280" "" "" "" "1" "" "00006" "{PMID:Takeyari 2014:24982027}" "2-generation family, 1 affected, unaffected heterozygous carrier first-cousin parents" "M" "yes" "Japan" "" "0" "" "" "" "patient" "00462281" "" "" "" "2" "" "00006" "Whyte 1985 Abs ASHG 37:A82, {PMID:Whyte 2017:27862258}" "2-generation family, 2 affected sisters, unaffected parents" "F" "" "United States" "" "0" "" "" "" "patient" "00462282" "" "" "" "1" "" "00006" "{PMID:Hung 2019:31297960}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Ecuador" "" "0" "" "" "" "patient" "00462283" "" "" "" "3" "" "00006" "{PMID:Seidahmed 2015:25974638}" "4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Saudi Arabia" "" "0" "" "" "" "patient" "00462285" "" "" "" "1" "" "00006" "{PMID:Kochar 2010:20453638}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "India" "" "0" "" "" "" "patient" "00462286" "" "" "" "1" "" "00006" "{PMID:Lulla 2021:32779771}" "" "F" "" "India" "" "0" "" "" "" "patient" "00462287" "" "" "" "1" "" "00006" "{PMID:Boissel 2017:29261186}" "" "M" "" "Canada" "" "0" "" "" "" "051-022-CYB" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 45 "{{individualid}}" "{{diseaseid}}" "00081365" "01371" "00264098" "00624" "00264099" "00624" "00264100" "00624" "00264101" "00624" "00264102" "00624" "00264103" "00624" "00264104" "00624" "00264119" "00624" "00264120" "00624" "00264121" "00624" "00294385" "00198" "00331432" "05517" "00379707" "04214" "00387998" "00624" "00401654" "06886" "00442079" "02477" "00443892" "00624" "00462237" "02053" "00462258" "00624" "00462260" "00624" "00462262" "00624" "00462263" "00624" "00462264" "00624" "00462265" "00624" "00462267" "00004" "00462268" "00624" "00462269" "00624" "00462270" "00624" "00462271" "00624" "00462272" "00624" "00462273" "00624" "00462274" "00624" "00462275" "00624" "00462276" "00624" "00462277" "00624" "00462278" "00198" "00462279" "00624" "00462280" "00198" "00462281" "00198" "00462282" "00624" "00462283" "00624" "00462285" "00624" "00462286" "00624" "00462287" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00004, 00139, 00198, 00624, 01371, 02053, 02477, 04214, 05517, 06886 ## Count = 42 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000060928" "01371" "00081365" "01706" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000201941" "00624" "00264098" "00006" "Familial, autosomal recessive" "" "gestation 37w; survived <10d; prominent forehead, proptosis, midfacial hypoplasia, depressed nasal bridge, osteosclerosis, periosteal bone formation, thoracic hypoplasia, pulmonary hypoplasia" "" "" "" "" "" "" "" "" "RNS" "Raine syndrome" "" "0000201942" "00624" "00264099" "00006" "Familial, autosomal recessive" "" "see paper; ..., gestation 37w; survived <10d; prominent forehead, proptosis, midfacial hypoplasia, depressed nasal bridge, osteosclerosis, periosteal bone formation, thoracic hypoplasia, no pulmonary hypoplasia" "" "" "" "" "" "" "" "" "RNS" "lethal sclerosing bone dysplasia" "" "0000201943" "00624" "00264100" "00006" "Familial, autosomal recessive" "" "gestation 38w; survived <10d; prominent forehead, proptosis, midfacial hypoplasia, depressed nasal bridge, osteosclerosis, periosteal bone formation, thoracic hypoplasia, pulmonary hypoplasia" "" "" "" "" "" "" "" "" "RNS" "Raine syndrome" "" "0000201944" "00624" "00264101" "00006" "Familial, autosomal recessive" "" "see paper; ..., gestation 36w; survived >10d; prominent forehead, proptosis, midfacial hypoplasia, depressed nasal bridge, osteosclerosis, periosteal bone formation, no cerebral calcifications, thoracic hypoplasia, no pulmonary hypoplasia" "" "" "" "" "" "" "" "" "RNS" "Raine syndrome" "" "0000201945" "00624" "00264102" "00006" "Familial, autosomal recessive" "" "see paper; ..., gestation 32w; survived <10d; prominent forehead, proptosis, midfacial hypoplasia, depressed nasal bridge, osteosclerosis, periosteal bone formation, cerebral calcifications, thoracic hypoplasia, pulmonary hypoplasia" "" "" "" "" "" "" "" "" "RNS" "Raine syndrome" "" "0000201946" "00624" "00264103" "00006" "Familial, autosomal recessive" "" "gestation 38w; survived >10d; prominent forehead, proptosis, midfacial hypoplasia, depressed nasal bridge, osteosclerosis, periosteal bone formation, cerebral calcifications, no thoracic hypoplasia, no pulmonary hypoplasia" "" "" "" "" "" "" "" "" "RNS" "Raine syndrome" "" "0000201947" "00624" "00264104" "00006" "Familial, autosomal recessive" "" "gestation 32w; survived <10d; prominent forehead, proptosis, midfacial hypoplasia, depressed nasal bridge, osteosclerosis, periosteal bone formation, cerebral calcifications, thoracic hypoplasia, pulmonary hypoplasia" "" "" "" "" "" "" "" "" "RNS" "Raine syndrome" "" "0000201959" "00624" "00264119" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "RNS" "non-lethal osteosclerotic bone dysplasia" "" "0000201960" "00624" "00264120" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "RNS" "non-lethal osteosclerotic bone dysplasia" "" "0000201961" "00624" "00264121" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "RNS" "osteosclerotic bone dysplasia" "" "0000249624" "05517" "00331432" "00000" "Familial, autosomal recessive" "" "Global developmental delay, Abnormal facial shape" "" "" "" "" "" "" "" "" "Neonatal osteosclerotic dysplasias" "skeletal dysplasia" "" "0000273552" "04214" "00379707" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "high myopia" "" "0000281596" "00624" "00387998" "04144" "Familial, autosomal recessive" "00y00m21d" "HP:0000453, HP:0000377, HP:0000212, HP:0005280, HP:0000218, HP:0000695, HP:0000248, HP:0000270, HP:0000463, HP:0008501; abnormal 32-week scan with clover-leaf skull, non-ossified nasal bone, midface hypoplasia, bulging eyelids and irregular contour of long bones; born at full-term, Apgar score 9/10, birth-weight 2900 g; noisy breathing, feeding difficulties due to right-sided choanal atresia, vital parameters and oxygen-saturation stable; weight 2.75 kg (Z 0 to -2), length 46 cm (Z 0 to -2), OFC32.5 cm (Z -1 to -2); osteopetrosis" "" "00y00m21d" "" "" "" "" "" "" "" "osteosclerosis, poor cortico-medullary-differentiation and microfractures left femur and fibula" "" "0000311025" "06886" "00401654" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "ARHR2" "hypophosphatemic rickets" "" "0000331439" "02477" "00442079" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MLC1" "Agarwal megalencephalic leukodystrophy with cysts" "" "0000349737" "02053" "00462237" "01793" "Familial, autosomal recessive" "02y" "Raine syndrome" "" "" "" "Bayram TORAMAN" "" "" "" "" "RNS" "reticular dysgenesis" "" "0000349758" "00624" "00462258" "00006" "Familial, autosomal recessive" "00y08m" "see paper; ..., 8m-deceased" "" "" "" "" "" "" "" "" "RNS" "Raine syndrome" "" "0000349760" "00624" "00462260" "00006" "Familial, autosomal recessive" "" "see paper; ..., hypoplastic amelogenesis imperfecta (abnormal dental enamel formation), mild facial dysmorphism, no other obvious skeletal/growth abnormalities; mild hypophosphataemia and soft tissue ectopic mineralization" "" "" "" "" "" "" "" "" "RNS" "Raine syndrome" "" "0000349762" "00624" "00462262" "00006" "Familial, autosomal recessive" "" "see paper; ..., hypoplastic amelogenesis imperfecta, tooth dentine abnormalities, facial dysmorphism, hypophosphataemia, soft tissue ectopic mineralization, no osteosclerosis" "" "" "" "" "" "" "" "" "RNS" "Raine syndrome" "" "0000349763" "00624" "00462263" "00006" "Familial, autosomal recessive" "" "see paper; ..., exorbitism, hypoplastic nose, midface hypoplasia; small mouth, down-curved corners; distinct pattern of intracranial calcification" "" "" "" "" "" "" "" "" "RNS" "Raine syndrome" "" "0000349764" "00624" "00462264" "00006" "Familial, autosomal recessive" "" "see paper; ..., exorbitism, hypoplastic nose, midface hypoplasia; small mouth, down-curved corners; distinct pattern of intracranial calcification" "" "" "" "" "" "" "" "" "RNS" "Raine syndrome" "" "0000349765" "00624" "00462265" "00006" "Familial, autosomal recessive" "" "see paper; ..., exorbitism, hypoplastic nose, midface hypoplasia; small mouth, down-curved corners; distinct pattern of intracranial calcification" "" "" "" "" "" "" "" "" "RNS" "Raine syndrome" "" "0000349767" "00004" "00462267" "00006" "Familial, autosomal recessive" "" "see paper; ..., learning disability, seizures and amelogenesis imperfecta" "" "" "" "" "" "" "" "" "RNS" "Kohlschutter-Tonz syndrome" "" "0000349768" "00624" "00462268" "00006" "Familial, autosomal recessive" "00y09m" "see paper; ..., hypophosphatemia; prenatal ultrasound nasal bone agenesis; large anterior fontanel, frontal bossing, exophthalmos, hypoplastic nose, high arched palate, low set ears, triangular mouth, corneal opacification" "" "" "" "" "" "" "" "" "RNS" "hypophosphatemia" "" "0000349769" "00624" "00462269" "00006" "Familial, autosomal recessive" "01y" "see paper; ..., underdeveloped midface, flattened forehead, small nose, depressed nasal bridge, anteverted nares, small mouth, narrow palate, epicanthal fold; choanal atresia/stenosis; pectus excavatum, bulbous fingertips; osteosclerosis in the ribs and costovertebral joints; no fractures; intracerebral calcifications; no seizures; hearing loss" "00y00m01d" "" "" "" "" "" "" "" "RNS" "Raine syndrome" "" "0000349770" "00624" "00462270" "00006" "Familial, autosomal recessive" "" "see paper; ..., generalized osteosclerosis" "" "" "" "" "" "" "" "" "RNS" "generalized osteosclerosis" "" "0000349771" "00624" "00462271" "00006" "Familial, autosomal recessive" "39y" "see paper; ..., pain extremities, osteosclerosis with periosteal bone formation, multiple calcifications in solid organs, midface hypoplasia, exophthalmos, amelogenesis imperfecta, shortening distal phalanges, pectus excavatum, hypophosphatemia due to renal phosphate wasting" "" "" "" "" "" "" "" "" "RNS" "Raine syndrome" "" "0000349772" "00624" "00462272" "00006" "Familial, autosomal recessive" "06y" "see paper; ..., facial dysmorphy, delayed speech, delayed cognition; radiography small sclerotic areas lower part right femur, abnormally-shaped skull with minimal sclerosis lower occipital region" "" "" "" "" "" "" "" "" "RNS" "Raine syndrome" "" "0000349773" "00624" "00462273" "00006" "Familial, autosomal recessive" "" "see papers; ..." "" "" "" "" "" "" "" "" "RNS" "Raine syndrome" "" "0000349774" "00624" "00462274" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "RNS" "Raine syndrome" "" "0000349775" "00624" "00462275" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "RNS" "Raine syndrome" "" "0000349776" "00624" "00462276" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "RNS" "Raine syndrome" "" "0000349777" "00624" "00462277" "00006" "Familial, autosomal recessive" "" "see paper; ..., hypophosphatemia, dental anomalies, ectopic calcification" "" "" "" "" "" "" "" "" "RNS" "hypophosphatemia" "" "0000349778" "00198" "00462278" "00006" "Familial, autosomal recessive" "72t" "see paper; ..., progressive spontaneous osteonecrosis knee; high bone mass lumbar spine/hip" "" "" "" "" "" "" "" "" "RNS" "progressive spontaneous osteonecrosis knee" "" "0000349779" "00624" "00462279" "00006" "Familial, autosomal recessive" "02y" "see paper; ..., pyriform aperture stenosis; fetus characteristic cerebral hyperechogenicity, hypoplastic nose; craniofacial abnormalities, intracranial calcification, osteosclerosis, chondrodysplasia punctata" "" "" "" "" "" "" "" "" "RNS" "pyriform aperture stenosis" "" "0000349780" "00198" "00462280" "00006" "Familial, autosomal recessive" "61y" "see paper; ..., hypophosphatemic osteomalacia, bone sclerosis; cortical hyperostosis, increased lumbar and femoral bone mineral densities" "" "" "" "" "" "" "" "" "RNS" "hypophosphatemic osteomalacia, bone sclerosis" "" "0000349781" "00198" "00462281" "00006" "Familial, autosomal recessive" "" "see paper; ..., congenital sclerosing osteomalacia with cerebral calcification (MIM 259660);" "" "" "" "" "" "" "" "" "RNS" "congenital sclerosing osteomalacia, cerebral calcification" "" "0000349782" "00624" "00462282" "00006" "Familial, autosomal recessive" "00y00m01d" "see paper; ..., 1d-deceased (progressive hypoxemia with intermittent worsening bradycardia); birth cyanotic" "" "" "" "" "" "" "" "" "RNS" "" "" "0000349783" "00624" "00462285" "00006" "Familial, autosomal recessive" "" "see paper; ..., low birth weight, microcephaly, sclerosis of skull, intracranial calcifications, cranial sutures, ridged, fontanelles, delayed closure (large), clover leaf skull, prominent forehead, low set ears, prominent eyes/proptosis, entropion of eyelids, choanal atresia/stenosis, small/short nose, depressed/flat nasal bridge, flat face, mid facial hypoplasia, mandible, general abnormalities, small mandible/micrognathia, hypoplastic maxilla (excluding malar region), open mouth appearance, long philtrum, cleft palate, narrow thorax, lung hypoplasia, hydronephrosis, bowed femur/tibia, osteosclerosis, cortical hyperostosis, wide metaphysic" "" "" "" "" "" "" "" "" "RNS" "Raine syndrome" "" "0000349784" "00624" "00462286" "00006" "Familial, autosomal recessive" "" "see paper; ..., lethal osteosclerotic bone dysplasia" "" "" "" "" "" "" "" "" "RNS" "osteosclerotic bone dysplasia" "" "0000349786" "00198" "00462287" "00006" "Familial, autosomal recessive" "" "see paper; ..., 25gw-brachycephaly, exophthalmos, short nose with depressed root, broad clavicles, belt-shaped thorax, increased density long bones/base skull, brain calcification" "" "" "" "" "" "" "" "" "RNS" "severe fetal anomalies" "" ## Screenings ## Do not remove or alter this header ## ## Count = 48 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000069" "00000069" "1" "00004" "" "2012-05-11 13:18:57" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000070" "00000070" "1" "00004" "" "2012-05-11 13:18:57" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000081478" "00081365" "1" "01706" "00006" "2016-10-04 07:17:53" "" "" "SEQ;arraySNP;PCR" "DNA" "" "" "0000265087" "00263973" "1" "03414" "03414" "2019-09-04 04:41:07" "" "" "SEQ" "DNA" "" "" "0000265220" "00264098" "1" "00006" "00006" "2019-09-11 13:01:03" "" "" "SEQ" "DNA" "" "" "0000265221" "00264099" "1" "00006" "00006" "2019-09-11 13:01:03" "" "" "SEQ" "DNA" "" "" "0000265222" "00264100" "1" "00006" "00006" "2019-09-11 13:01:03" "" "" "SEQ" "DNA" "" "" "0000265223" "00264101" "1" "00006" "00006" "2019-09-11 13:01:03" "" "" "SEQ" "DNA" "" "" "0000265224" "00264102" "1" "00006" "00006" "2019-09-11 13:01:03" "" "" "SEQ" "DNA" "" "" "0000265225" "00264103" "1" "00006" "00006" "2019-09-11 13:01:03" "" "" "SEQ" "DNA" "" "" "0000265226" "00264104" "1" "00006" "00006" "2019-09-11 13:01:03" "" "" "SEQ" "DNA" "" "" "0000265239" "00264119" "1" "00006" "00006" "2019-09-11 21:00:27" "" "" "SEQ" "DNA" "" "" "0000265240" "00264120" "1" "00006" "00006" "2019-09-11 21:00:27" "" "" "SEQ" "DNA" "" "" "0000265241" "00264121" "1" "00006" "00006" "2019-09-11 21:00:27" "" "" "SEQ" "DNA" "" "" "0000295553" "00294385" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000332651" "00331432" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000380909" "00379707" "1" "00000" "03840" "2021-08-06 16:45:16" "" "" "SEQ-NG-I" "DNA" "blood" "Whole-exome sequencing" "0000389240" "00387998" "1" "04144" "04144" "2021-11-01 17:52:07" "" "" "SEQ-NG" "DNA" "Germline-DNA extracted from peripheral blood" "Clinical-exome-sequencing (CES) at an average depth of 100x" "0000402897" "00401654" "1" "00006" "00006" "2022-02-01 15:04:43" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000443564" "00442079" "1" "00006" "00006" "2023-11-18 16:39:56" "" "" "SEQ" "DNA" "" "" "0000445389" "00443892" "1" "04603" "04603" "2023-12-06 11:45:22" "" "" "SEQ-NG" "DNA" "" "" "0000463869" "00462237" "1" "01793" "01793" "2025-02-05 21:32:35" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000463890" "00462258" "1" "00006" "00006" "2025-02-07 09:14:34" "" "" "arrayCGH" "DNA" "" "" "0000463892" "00462260" "1" "00006" "00006" "2025-02-07 09:28:54" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000463894" "00462262" "1" "00006" "00006" "2025-02-07 09:37:09" "" "" "SEQ" "DNA" "" "" "0000463895" "00462263" "1" "00006" "00006" "2025-02-07 09:57:02" "" "" "SEQ" "DNA" "" "" "0000463896" "00462264" "1" "00006" "00006" "2025-02-07 10:02:22" "" "" "SEQ" "DNA" "" "" "0000463897" "00462265" "1" "00006" "00006" "2025-02-07 10:05:27" "" "" "SEQ" "DNA" "" "" "0000463899" "00462267" "1" "00006" "00006" "2025-02-07 10:47:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000463900" "00462268" "1" "00006" "00006" "2025-02-07 10:54:10" "" "" "SEQ" "DNA" "" "" "0000463901" "00462269" "1" "00006" "00006" "2025-02-07 11:06:46" "" "" "SEQ" "DNA" "" "" "0000463902" "00462270" "1" "00006" "00006" "2025-02-07 11:21:03" "" "" "SEQ" "DNA" "" "" "0000463903" "00462271" "1" "00006" "00006" "2025-02-07 11:27:55" "" "" "SEQ-NG" "DNA" "" "WES" "0000463904" "00462272" "1" "00006" "00006" "2025-02-07 11:40:12" "" "" "SEQ-NG" "DNA" "" "WES" "0000463905" "00462273" "1" "00006" "00006" "2025-02-07 12:03:41" "" "" "SEQ" "DNA" "" "" "0000463906" "00462274" "1" "00006" "00006" "2025-02-07 12:09:56" "" "" "SEQ" "DNA" "" "" "0000463907" "00462275" "1" "00006" "00006" "2025-02-07 12:13:57" "" "" "SEQ-NG" "DNA" "" "WES" "0000463908" "00462276" "1" "00006" "00006" "2025-02-07 12:16:21" "" "" "SEQ-NG" "DNA" "" "WES" "0000463909" "00462277" "1" "00006" "00006" "2025-02-07 12:23:44" "" "" "SEQ" "DNA" "" "WES" "0000463910" "00462278" "1" "00006" "00006" "2025-02-07 13:09:05" "" "" "SEQ" "DNA" "" "" "0000463911" "00462279" "1" "00006" "00006" "2025-02-07 13:18:38" "" "" "SEQ" "DNA" "" "" "0000463912" "00462280" "1" "00006" "00006" "2025-02-07 13:29:16" "" "" "SEQ" "DNA" "" "" "0000463913" "00462281" "1" "00006" "00006" "2025-02-07 13:37:10" "" "" "SEQ" "DNA" "" "" "0000463914" "00462282" "1" "00006" "00006" "2025-02-07 13:50:20" "" "" "SEQ" "DNA" "" "" "0000463915" "00462283" "1" "00006" "00006" "2025-02-07 13:56:17" "" "" "SEQ" "DNA" "" "" "0000463916" "00462285" "1" "00006" "00006" "2025-02-07 14:01:22" "" "" "SEQ" "DNA" "" "" "0000463917" "00462286" "1" "00006" "00006" "2025-02-07 14:07:20" "" "" "SEQ-NG" "DNA" "" "WES" "0000463918" "00462287" "1" "00006" "00006" "2025-02-07 14:14:33" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 59 "{{screeningid}}" "{{geneid}}" "0000000069" "AHI1" "0000000069" "ARSB" "0000000069" "ATP7B" "0000000069" "CYP27A1" "0000000069" "ETFB" "0000000069" "GLB1" "0000000069" "HEXA" "0000000069" "HEXB" "0000000069" "LAMA2" "0000000069" "MTHFR" "0000000069" "MYO5A" "0000000069" "NHLRC1" "0000000069" "NPHS1" "0000000069" "PMM2" "0000000069" "SBDS" "0000000070" "ACADSB" "0000000070" "ATP7B" "0000000070" "CFTR" "0000000070" "ETFB" "0000000070" "HBA1" "0000000070" "IGHMBP2" "0000000070" "MTHFR" "0000000070" "MYO5A" "0000000070" "SERPINA1" "0000000070" "SLC26A2" "0000081478" "HTT" "0000265087" "FAM20C" "0000265220" "FAM20C" "0000265221" "FAM20C" "0000265222" "FAM20C" "0000265223" "FAM20C" "0000265224" "FAM20C" "0000265225" "FAM20C" "0000265226" "FAM20C" "0000265239" "FAM20C" "0000265240" "FAM20C" "0000265241" "FAM20C" "0000332651" "FAM20C" "0000389240" "FAM20C" "0000443564" "MLC1" "0000445389" "FAM20C" "0000463869" "FAM20C" "0000463892" "FAM20C" "0000463894" "FAM20C" "0000463895" "FAM20C" "0000463896" "FAM20C" "0000463897" "FAM20C" "0000463900" "FAM20C" "0000463901" "FAM20C" "0000463902" "FAM20C" "0000463905" "FAM20C" "0000463906" "FAM20C" "0000463910" "FAM20C" "0000463911" "FAM20C" "0000463912" "FAM20C" "0000463913" "FAM20C" "0000463914" "FAM20C" "0000463915" "FAM20C" "0000463916" "FAM20C" ## 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 = 99 "{{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}}" "0000000108" "0" "50" "1" "11850927" "11850927" "subst" "0.055472" "00002" "MTHFR_000001" "g.11850927C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.11790870C>T" "" "pathogenic (recessive)" "" "0000000109" "0" "50" "1" "11850927" "11850927" "subst" "0.055472" "00002" "MTHFR_000001" "g.11850927C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.11790870C>T" "" "VUS" "" "0000248869" "0" "10" "7" "299881" "299881" "subst" "0.43564" "02325" "FAM20C_000012" "g.299881A>G" "" "" "" "FAM20C(NM_020223.4):c.1690A>G (p.N564D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.259915A>G" "" "benign" "" "0000267968" "0" "10" "7" "299850" "299850" "subst" "0.43788" "02325" "FAM20C_000009" "g.299850G>T" "" "" "" "FAM20C(NM_020223.4):c.1659G>T (p.V553=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.259884G>T" "" "benign" "" "0000271403" "0" "30" "7" "299843" "299843" "subst" "0.0218379" "02326" "FAM20C_000007" "g.299843G>A" "" "" "" "FOXL3(NM_001374838.1):NULL" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.259877G>A" "" "likely benign" "" "0000271404" "0" "10" "7" "299863" "299863" "subst" "0.0503511" "02326" "FAM20C_000011" "g.299863C>T" "" "" "" "FOXL3(NM_001374838.1):NULL" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.259897C>T" "" "benign" "" "0000276581" "0" "30" "7" "193222" "193222" "subst" "0.000199155" "01943" "FAM20C_000001" "g.193222G>A" "" "" "" "FAM20C(NM_020223.4):c.23G>A (p.R8Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.193222G>A" "" "likely benign" "" "0000331356" "0" "50" "7" "295860" "295860" "subst" "1.45845E-5" "01804" "FAM20C_000005" "g.295860C>T" "" "" "" "FAM20C(NM_020223.3):c.1118C>T (p.(Thr373Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.255894C>T" "" "VUS" "" "0000331357" "0" "50" "7" "295983" "295983" "subst" "0" "01804" "FAM20C_000006" "g.295983G>A" "" "" "" "FAM20C(NM_020223.3):c.1241G>A (p.(Arg414His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.256017G>A" "" "VUS" "" "0000331358" "0" "50" "7" "299845" "299845" "subst" "7.34883E-5" "01804" "FAM20C_000008" "g.299845G>A" "" "" "" "FAM20C(NM_020223.3):c.1654G>A (p.(Val552Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.259879G>A" "" "VUS" "" "0000531590" "0" "30" "7" "193245" "193245" "subst" "0.0014903" "01804" "FAM20C_000016" "g.193245G>T" "" "" "" "FAM20C(NM_020223.3):c.46G>T (p.(Val16Leu)), FAM20C(NM_020223.4):c.46G>T (p.V16L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.193245G>T" "" "likely benign" "" "0000531591" "0" "30" "7" "193254" "193254" "subst" "0.000108221" "01804" "FAM20C_000017" "g.193254G>T" "" "" "" "FAM20C(NM_020223.3):c.55G>T (p.(Val19Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.193254G>T" "" "likely benign" "" "0000531592" "0" "30" "7" "193399" "193399" "subst" "0.00171142" "01804" "FAM20C_000018" "g.193399C>A" "" "" "" "FAM20C(NM_020223.3):c.200C>A (p.(Pro67His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.193399C>A" "" "likely benign" "" "0000531593" "0" "50" "7" "193401" "193401" "subst" "0" "01804" "FAM20C_000019" "g.193401G>T" "" "" "" "FAM20C(NM_020223.3):c.202G>T (p.(Gly68Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.193401G>T" "" "VUS" "" "0000531597" "0" "30" "7" "195594" "195594" "subst" "0.00440581" "01804" "FAM20C_000023" "g.195594G>A" "" "" "" "FAM20C(NM_020223.3):c.646G>A (p.(Gly216Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.195594G>A" "" "likely benign" "" "0000531598" "0" "30" "7" "195681" "195681" "subst" "0.000413355" "01804" "FAM20C_000024" "g.195681G>A" "" "" "" "FAM20C(NM_020223.3):c.733G>A (p.(Ala245Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.195681G>A" "" "likely benign" "" "0000531779" "0" "50" "7" "286412" "286412" "subst" "0" "01804" "FAM20C_000025" "g.286412T>A" "" "" "" "FAM20C(NM_020223.3):c.895T>A (p.(Phe299Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.246446T>A" "" "VUS" "" "0000531781" "0" "30" "7" "286470" "286503" "dup" "0" "01943" "FAM20C_000027" "g.286470_286503dup" "" "" "" "FAM20C(NM_020223.3):c.953_956+30dup (p.(Ile320Ter)), FAM20C(NM_020223.4):NULL, FAM20C(NM_020223.4):c.956+5_956+6ins34, FAM20C(NM_020223.4):c.957_95..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.246504_246537dup" "" "likely benign" "" "0000531782" "0" "30" "7" "286470" "286503" "dup" "0" "02326" "FAM20C_000027" "g.286470_286503dup" "" "" "" "FAM20C(NM_020223.3):c.953_956+30dup (p.(Ile320Ter)), FAM20C(NM_020223.4):NULL, FAM20C(NM_020223.4):c.956+5_956+6ins34, FAM20C(NM_020223.4):c.957_95..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.246504_246537dup" "" "likely benign" "" "0000531783" "0" "30" "7" "288323" "288323" "subst" "0" "01804" "FAM20C_000028" "g.288323G>A" "" "" "" "FAM20C(NM_020223.3):c.999G>A (p.(Met333Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.248357G>A" "" "likely benign" "" "0000531790" "0" "50" "7" "296734" "296734" "subst" "2.19526E-5" "01804" "FAM20C_000029" "g.296734G>A" "" "" "" "FAM20C(NM_020223.3):c.1363+5G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.256768G>A" "" "VUS" "" "0000531803" "0" "30" "7" "299872" "299872" "subst" "0.0117904" "01804" "FAM20C_000030" "g.299872G>A" "" "" "" "FAM20C(NM_020223.3):c.1681G>A (p.(Val561Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.259906G>A" "" "likely benign" "" "0000595749" "21" "70" "7" "193655" "193655" "dup" "0" "03414" "FAM20C_000031" "g.193655dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.193655dup" "" "pathogenic (recessive)" "" "0000595806" "11" "90" "7" "0" "0" "" "" "00006" "FAM20C_000040" "g.pter_(4500001_7300000)delins(4500001_7300000)_qterinv" "" "{PMID:Simpson 2007:17924334}" "" "45,XY psudic (7;7) (p22;p22)" "FISH probe RP11-90P13 deleted" "Uniparental disomy, paternal allele" "" "" "0" "" "" "g.pter_(4500001_7200000)delins(4500001_7200000)_qterinv" "" "pathogenic (recessive)" "" "0000595807" "3" "90" "7" "299836" "299836" "subst" "1.47143E-5" "00006" "FAM20C_000039" "g.299836C>T" "" "{PMID:Simpson 2007:17924334}" "" "1603C>T (Arg535Trp)" "" "Germline" "" "" "0" "" "" "g.259870C>T" "" "pathogenic (recessive)" "" "0000595808" "3" "90" "7" "295877" "295877" "subst" "0" "00006" "FAM20C_000038" "g.295877G>A" "" "{PMID:Simpson 2007:17924334}" "" "1093G>A (Gly365Arg)" "" "Germline" "" "" "0" "" "" "g.255911G>A" "" "pathogenic (recessive)" "" "0000595809" "3" "70" "7" "288278" "288278" "subst" "0" "00006" "FAM20C_000037" "g.288278C>G" "" "{PMID:Simpson 2007:17924334}" "" "915-3C>G" "" "Germline" "" "" "0" "" "" "g.248312C>G" "" "pathogenic (recessive)" "" "0000595810" "3" "90" "7" "295905" "295905" "subst" "0" "00006" "FAM20C_000036" "g.295905T>G" "" "{PMID:Simpson 2007:17924334}" "" "1121T>G (Leu374Arg)" "" "Germline" "" "" "0" "" "" "g.255939T>G" "" "pathogenic (recessive)" "" "0000595811" "1" "90" "7" "295878" "295878" "subst" "0" "00006" "FAM20C_000034" "g.295878G>A" "" "{PMID:Simpson 2007:17924334}" "" "1094G>A (Gly365Glu)" "" "Germline" "" "" "0" "" "" "g.255912G>A" "" "pathogenic (recessive)" "" "0000595812" "1" "70" "7" "286478" "286478" "subst" "0" "00006" "FAM20C_000032" "g.286478G>C" "" "{PMID:Simpson 2007:17924334}" "" "914+5G>C" "" "Germline" "" "" "0" "" "" "g.246512G>C" "" "likely pathogenic (recessive)" "" "0000595813" "2" "90" "7" "298611" "298611" "subst" "0" "00006" "FAM20C_000033" "g.298611G>A" "" "{PMID:Simpson 2007:17924334}" "" "1404-1G>A" "" "Germline" "" "" "0" "" "" "g.258645G>A" "" "pathogenic (recessive)" "" "0000595814" "2" "90" "7" "296969" "296969" "subst" "0" "00006" "FAM20C_000035" "g.296969A>G" "" "{PMID:Simpson 2007:17924334}" "" "1322-2A>G" "" "Germline" "" "" "0" "" "" "g.257003A>G" "" "pathogenic (recessive)" "" "0000595840" "3" "90" "7" "296717" "296717" "subst" "0" "00006" "FAM20C_000041" "g.296717G>A" "" "{PMID:Simpson 2009:19250384}" "" "1309G>A (Asp437Asn)" "" "Germline" "" "" "0" "" "" "g.256751G>A" "" "pathogenic (recessive)" "" "0000595841" "11" "90" "7" "208951" "208951" "subst" "0" "00006" "FAM20C_000042" "g.208951G>A" "" "{PMID:Simpson 2009:19250384}" "" "796G>A (Gly266Arg)" "" "Germline" "" "" "0" "" "" "g.208951G>A" "" "pathogenic (recessive)" "" "0000595842" "3" "90" "7" "288306" "288306" "subst" "7.2794E-6" "00006" "FAM20C_000044" "g.288306C>T" "" "{PMID:Fradin 2011:20825432}" "" "940C>T (Pro314Ser)" "" "Germline" "" "" "0" "" "" "g.248340C>T" "" "pathogenic (recessive)" "" "0000595844" "20" "90" "7" "195721" "195721" "subst" "0" "00006" "FAM20C_000043" "g.195721T>A" "" "{PMID:Simpson 2009:19250384}" "" "731T>A (Ile244Asn)" "" "De novo" "" "" "0" "" "" "g.195721T>A" "" "pathogenic (recessive)" "" "0000611035" "0" "30" "7" "286470" "286503" "dup" "0" "01804" "FAM20C_000027" "g.286470_286503dup" "" "" "" "FAM20C(NM_020223.3):c.953_956+30dup (p.(Ile320Ter)), FAM20C(NM_020223.4):NULL, FAM20C(NM_020223.4):c.956+5_956+6ins34, FAM20C(NM_020223.4):c.957_95..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.246504_246537dup" "" "likely benign" "" "0000652242" "1" "10" "7" "195594" "195594" "subst" "0.00440581" "03575" "FAM20C_000023" "g.195594G>A" "21/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "21 heterozygous, no homozygous; {DB:CLININrs61734970}" "Germline" "" "rs61734970" "0" "" "" "g.195594G>A" "" "benign" "" "0000729933" "3" "90" "7" "295967" "295967" "subst" "7.368E-6" "00000" "FAM20C_000045" "g.295967C>T" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_020223.3:c.1225C>T:p.(Arg409Cys)" "" "Germline" "" "" "0" "" "" "g.256001C>T" "" "pathogenic (recessive)" "" "0000803127" "0" "30" "7" "299750" "299750" "subst" "0" "01943" "FAM20C_000046" "g.299750A>G" "" "" "" "FAM20C(NM_020223.4):c.1559A>G (p.K520R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000818151" "3" "90" "7" "299871" "299871" "subst" "0" "04144" "FAM20C_000047" "g.299871C>A" "" "{PMID:Bajaj 2021:33676444}" "" "" "" "Germline" "" "" "0" "" "" "g.259905C>A" "SCV000608281.1" "likely pathogenic (recessive)" "ACMG" "0000837185" "0" "50" "7" "299863" "299863" "subst" "0.0503511" "00006" "FAM20C_000011" "g.299863C>T" "" "{PMID:Thiele 2020:33107440}" "" "" "" "Germline" "" "" "0" "" "" "g.259897C>T" "" "VUS" "" "0000837186" "0" "50" "7" "299881" "299881" "subst" "0.43564" "00006" "FAM20C_000012" "g.299881A>G" "" "{PMID:Thiele 2020:33107440}" "" "" "" "Germline" "" "" "0" "" "" "g.259915A>G" "" "VUS" "" "0000851567" "0" "50" "7" "193764" "193764" "subst" "0" "01943" "FAM20C_000048" "g.193764G>T" "" "" "" "FAM20C(NM_020223.4):c.565G>T (p.D189Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851588" "0" "30" "7" "295970" "295970" "subst" "0.00492175" "01804" "FAM20C_000050" "g.295970T>A" "" "" "" "FAM20C(NM_020223.3):c.1228T>A (p.(Ser410Thr)), FAM20C(NM_020223.4):c.1228T>A (p.S410T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851592" "0" "50" "7" "299881" "299881" "subst" "0.000463658" "01943" "FAM20C_000013" "g.299881A>C" "" "" "" "FAM20C(NM_020223.4):c.1690A>C (p.N564H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860738" "0" "50" "7" "295924" "295924" "subst" "0.000153412" "01804" "FAM20C_000049" "g.295924C>G" "" "" "" "FAM20C(NM_020223.3):c.1182C>G (p.(Asp394Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887815" "0" "30" "7" "193245" "193245" "subst" "0.0014903" "02326" "FAM20C_000016" "g.193245G>T" "" "" "" "FAM20C(NM_020223.3):c.46G>T (p.(Val16Leu)), FAM20C(NM_020223.4):c.46G>T (p.V16L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887852" "0" "50" "7" "299834" "299834" "subst" "4.41164E-5" "01804" "FAM20C_000051" "g.299834G>A" "" "" "" "FAM20C(NM_020223.3):c.1643G>A (p.(Arg548Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887853" "0" "30" "7" "299932" "299932" "subst" "0.000145116" "01804" "FAM20C_000052" "g.299932G>A" "" "" "" "FAM20C(NM_020223.3):c.1741G>A (p.(Ala581Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924704" "0" "50" "7" "288342" "288342" "subst" "0" "01804" "FAM20C_000053" "g.288342A>G" "" "" "" "FAM20C(NM_020223.3):c.1018A>G (p.(Ile340Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924706" "0" "50" "7" "299720" "299720" "subst" "0" "01804" "FAM20C_000054" "g.299720G>A" "" "" "" "FAM20C(NM_020223.3):c.1529G>A (p.(Arg510His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929325" "0" "30" "7" "193205" "193205" "subst" "0.000404754" "02326" "FAM20C_000055" "g.193205G>A" "" "" "" "FAM20C(NM_020223.4):c.6G>A (p.K2=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000952394" "11" "70" "7" "193506" "193507" "dup" "0" "04603" "FAM20C_000056" "g.193506_193507dup" "" "" "" "" "variant 2nd chromosome not reported" "Germline" "" "" "0" "" "" "g.193506_193507dup" "" "pathogenic (recessive)" "ACMG" "0000964556" "0" "10" "7" "286470" "286503" "dup" "0" "02329" "FAM20C_000027" "g.286470_286503dup" "" "" "" "FAM20C(NM_020223.3):c.953_956+30dup (p.(Ile320Ter)), FAM20C(NM_020223.4):NULL, FAM20C(NM_020223.4):c.956+5_956+6ins34, FAM20C(NM_020223.4):c.957_95..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000964558" "0" "50" "7" "295970" "295970" "subst" "0.00492175" "02325" "FAM20C_000050" "g.295970T>A" "" "" "" "FAM20C(NM_020223.3):c.1228T>A (p.(Ser410Thr)), FAM20C(NM_020223.4):c.1228T>A (p.S410T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977670" "0" "50" "7" "288345" "288345" "subst" "6.54946E-5" "01804" "FAM20C_000057" "g.288345C>T" "" "" "" "FAM20C(NM_020223.4):c.1021C>T (p.(Arg341Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977671" "0" "10" "7" "295970" "295970" "subst" "0.00492175" "02329" "FAM20C_000050" "g.295970T>A" "" "" "" "FAM20C(NM_020223.3):c.1228T>A (p.(Ser410Thr)), FAM20C(NM_020223.4):c.1228T>A (p.S410T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000977672" "0" "50" "7" "296983" "296983" "subst" "0" "01804" "FAM20C_000058" "g.296983G>A" "" "" "" "FAM20C(NM_020223.4):c.1376G>A (p.(Arg459His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977674" "0" "50" "7" "299896" "299896" "subst" "3.68732E-5" "01804" "FAM20C_000059" "g.299896G>A" "" "" "" "FAM20C(NM_020223.4):c.1705G>A (p.(Val569Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977675" "0" "50" "7" "299908" "299908" "subst" "0.000488346" "01804" "FAM20C_000060" "g.299908G>A" "" "" "" "FAM20C(NM_020223.4):c.1717G>A (p.(Asp573Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001023924" "3" "90" "7" "288395" "288395" "subst" "0" "01793" "FAM20C_000061" "g.288395A>G" "" "" "" "g.58464A>G" "" "Germline" "yes" "" "0" "" "" "g.248429A>G" "" "pathogenic (recessive)" "ACMG" "0001023948" "21" "90" "7" "0" "0" "" "" "00006" "FAM20C_000040" "g.pter_qterdel" "" "{PMID:Simpson 2007:17924334}" "" "" "" "De novo" "" "" "0" "" "" "g.pter_qterdel" "" "pathogenic (recessive)" "" "0001023949" "3" "90" "7" "44930" "229994" "del" "0" "00006" "FAM20C_000062" "g.(36480_44930)_(229994_523731)del" "" "{PMID:Ababneh 2013:24039075}" "" "" "487kb deletion" "Germline" "" "" "0" "" "7p22.3(hg 19; 36480-523731)x0 7p22.3(hg19;44930-229994)x1" "g.(36480_44930)_(229994_483765)del" "" "pathogenic (recessive)" "" "0001023952" "3" "90" "7" "195737" "195737" "subst" "0" "00006" "FAM20C_000063" "g.195737G>C" "" "{PMID:Acevedo 2015:25928877}" "" "" "" "Germline" "yes" "" "0" "" "" "g.195737G>C" "" "pathogenic (recessive)" "" "0001023954" "3" "30" "7" "299863" "299863" "subst" "0.0503511" "00006" "FAM20C_000011" "g.299863C>T" "" "{PMID:Acevedo 2015:25928877}" "" "" "" "Germline" "" "rs62644536" "0" "" "" "g.259897C>T" "" "likely benign" "" "0001023955" "3" "90" "7" "298653" "298653" "subst" "0" "00006" "FAM20C_000064" "g.298653C>T" "" "{PMID:Acevedo 2015:25928877}" "" "" "" "Germline" "yes" "" "0" "" "" "g.258687C>T" "" "pathogenic (recessive)" "" "0001023960" "3" "90" "7" "193655" "193655" "del" "0" "00006" "FAM20C_000065" "g.193655del" "" "{PMID:El-Dessouky 2020:32833257}" "" "456delC" "" "Germline" "" "" "0" "" "" "g.193655del" "" "pathogenic (recessive)" "" "0001023961" "3" "90" "7" "286422" "286422" "del" "0" "00006" "FAM20C_000066" "g.286422del" "" "{PMID:El-Dessouky 2020:32833257}" "" "905delT" "" "Germline" "" "" "0" "" "" "g.246456del" "" "pathogenic (recessive)" "" "0001023962" "3" "90" "7" "299748" "299748" "subst" "0" "00006" "FAM20C_000067" "g.299748C>G" "" "{PMID:El-Dessouky 2020:32833257}" "" "" "" "Germline" "" "" "0" "" "" "g.259782C>G" "" "pathogenic (recessive)" "" "0001023963" "3" "90" "7" "195624" "195624" "subst" "0" "00006" "FAM20C_000068" "g.195624T>A" "" "{PMID:Elalaoui 2016:27667191}" "" "" "" "Germline" "yes" "" "0" "" "" "g.195624T>A" "" "pathogenic (recessive)" "" "0001023964" "21" "90" "7" "208981" "208981" "subst" "0" "00006" "FAM20C_000069" "g.208981G>C" "" "{PMID:Eltan 2020:32337609}" "" "" "" "Germline" "" "" "0" "" "" "g.208981G>C" "" "pathogenic (recessive)" "" "0001023965" "11" "90" "7" "299836" "299836" "subst" "1.47143E-5" "00006" "FAM20C_000039" "g.299836C>T" "" "{PMID:Eltan 2020:32337609}" "" "" "" "Germline" "" "" "0" "" "" "g.259870C>T" "" "pathogenic (recessive)" "" "0001023966" "3" "90" "7" "296621" "296621" "subst" "0" "00006" "FAM20C_000070" "g.296621T>C" "" "{PMID:Eras 2021:34177433}" "" "" "" "Germline" "" "" "0" "" "" "g.256655T>C" "" "pathogenic (recessive)" "" "0001023967" "21" "90" "7" "193655" "193655" "dup" "0" "00006" "FAM20C_000031" "g.193655dup" "" "{PMID:Hernandez-Zavala 2020:32093234}" "" "456dupC" "" "Germline" "yes" "" "0" "" "" "g.193655dup" "" "pathogenic (recessive)" "" "0001023968" "11" "90" "7" "193673" "193673" "del" "0" "00006" "FAM20C_000071" "g.193673del" "" "{PMID:Hernandez-Zavala 2020:32093234}" "" "474delC" "" "Germline" "yes" "" "0" "" "" "g.193673del" "" "pathogenic (recessive)" "" "0001023969" "1" "90" "7" "295850" "295854" "dup" "0" "00006" "FAM20C_000072" "g.295850_295854dup" "" "{PMID:Mamedova 2019:31471673}" "" "1107_1108insTACTG" "" "Germline" "" "" "0" "" "" "g.255884_255888dup" "" "pathogenic (recessive)" "" "0001023970" "2" "90" "7" "296982" "296982" "subst" "0" "00006" "FAM20C_000073" "g.296982C>G" "" "{PMID:Mamedova 2019:31471673}" "" "" "" "Germline" "" "" "0" "" "" "g.257016C>G" "" "pathogenic (recessive)" "" "0001023971" "3" "90" "7" "295970" "295970" "subst" "0.00492175" "00006" "FAM20C_000050" "g.295970T>A" "" "{PMID:Sheth 2018:29751744}" "" "" "later paper reports another pathogenic variant (c.1672C>T)" "Germline" "" "rs148276213" "0" "" "" "g.256004T>A" "SCV000583504.1" "pathogenic (!)" "" "0001023972" "3" "90" "7" "299863" "299863" "subst" "0.0503511" "00006" "FAM20C_000011" "g.299863C>T" "" "{PMID:Mameli 2020:32299476}" "" "" "original paper reports variant c.1228T>A as pathogenic" "Germline" "" "" "0" "" "1630C>T (Arg544Trp)" "g.259897C>T" "" "pathogenic (recessive)" "" "0001023973" "3" "90" "7" "295877" "295877" "subst" "0" "00006" "FAM20C_000038" "g.295877G>A" "" "{DOI:Mahmood 2014:10.13070/rs.en.1.890}, {PMID:Mameli 2020:32299476}" "" "" "" "Germline" "" "" "0" "" "" "g.255911G>A" "" "pathogenic (recessive)" "" "0001023974" "3" "90" "7" "296717" "296717" "subst" "0" "00006" "FAM20C_000041" "g.296717G>A" "" "{PMID:Mameli 2020:32299476}" "" "" "" "Germline" "" "" "0" "" "" "g.256751G>A" "" "pathogenic (recessive)" "" "0001023975" "3" "90" "7" "296717" "296717" "subst" "0" "00006" "FAM20C_000041" "g.296717G>A" "" "{PMID:Mameli 2020:32299476}" "" "" "" "Germline" "" "" "0" "" "" "g.256751G>A" "" "pathogenic (recessive)" "" "0001023976" "3" "90" "7" "193695" "193695" "subst" "0" "00006" "FAM20C_000074" "g.193695G>T" "" "{PMID:Mameli 2020:32299476}" "" "" "ACMG PVS1, PM2, PP4" "Germline" "" "" "0" "" "" "g.193695G>T" "" "pathogenic (recessive)" "" "0001023977" "21" "90" "7" "208916" "208916" "subst" "0" "00006" "FAM20C_000075" "g.208916C>T" "" "{PMID:Rafaelsen 2013:23325605}" "" "" "" "Germline" "" "" "0" "" "" "g.208916C>T" "" "pathogenic (recessive)" "" "0001023978" "11" "90" "7" "286432" "286432" "subst" "0" "00006" "FAM20C_000076" "g.286432C>A" "" "{PMID:Rafaelsen 2013:23325605}" "" "" "" "Germline" "" "" "0" "" "" "g.246466C>A" "" "pathogenic (recessive)" "" "0001023980" "1" "90" "7" "286423" "286423" "subst" "0" "00006" "FAM20C_000077" "g.286423C>A" "" "{PMID:Rolvien 2018:30151622}" "" "" "" "Germline" "" "" "0" "" "" "g.246457C>A" "" "pathogenic (recessive)" "" "0001023981" "3" "70" "7" "286469" "286503" "dup" "0" "00006" "FAM20C_000078" "g.286469_286503dup" "" "{PMID:Rolvien 2018:30151622}" "" "" "" "Germline" "" "" "0" "" "" "g.246503_246537dup" "" "VUS" "" "0001023982" "3" "90" "7" "295961" "295961" "subst" "0" "00006" "FAM20C_000079" "g.295961T>G" "" "{PMID:Tamai 2017:29341424}" "" "" "" "Germline" "" "" "0" "" "" "g.255995T>G" "" "pathogenic (recessive)" "" "0001023983" "3" "90" "7" "295964" "295964" "subst" "1.47202E-5" "00006" "FAM20C_000080" "g.295964C>T" "" "{PMID:Takeyari 2014:24982027}" "" "" "" "Germline" "" "" "0" "" "" "g.255998C>T" "" "pathogenic (recessive)" "" "0001023984" "11" "90" "7" "295836" "295836" "subst" "0" "00006" "FAM20C_000081" "g.295836G>A" "" "{PMID:Whyte 2017:27862258}" "" "" "" "Germline" "" "" "0" "" "" "g.255870G>A" "" "pathogenic (recessive)" "" "0001023985" "21" "90" "7" "0" "0" "" "" "00006" "FAM20C_000082" "g.(?_193019)_(208977_?(del" "" "{PMID:Whyte 2017:27862258}" "" "" "" "Germline" "" "" "0" "" "" "g.(?_193019)_(208977_?)del" "" "pathogenic (recessive)" "" "0001023986" "3" "90" "7" "288331" "288331" "subst" "0" "00006" "FAM20C_000083" "g.288331T>G" "" "{PMID:Hung 2019:31297960}" "" "" "" "Germline" "" "" "0" "" "" "g.248365T>G" "" "pathogenic (recessive)" "" "0001023987" "3" "90" "7" "295967" "295967" "subst" "7.368E-6" "00006" "FAM20C_000045" "g.295967C>T" "" "{PMID:Seidahmed 2015:25974638}" "" "" "" "Germline" "yes" "" "0" "" "" "g.256001C>T" "" "pathogenic (recessive)" "" "0001023988" "3" "90" "7" "299863" "299863" "subst" "0.0503511" "00006" "FAM20C_000011" "g.299863C>T" "" "{PMID:Kochar 2010:20453638}" "" "1630C>T" "" "Germline" "" "" "0" "" "" "g.259897C>T" "" "pathogenic (recessive)" "" "0001023989" "3" "90" "7" "299871" "299871" "subst" "0" "00006" "FAM20C_000047" "g.299871C>A" "" "{PMID:Lulla 2021:32779771}" "" "" "" "Germline" "" "" "0" "" "" "g.259905C>A" "" "pathogenic (recessive)" "" "0001023990" "1" "70" "7" "286473" "286473" "subst" "0" "00006" "FAM20C_000084" "g.286473G>A" "" "{PMID:Boissel 2017:29261186}" "" "" "" "Germline" "" "" "0" "" "" "g.246507G>A" "" "likely pathogenic (recessive)" "" "0001023991" "2" "70" "7" "299719" "299719" "subst" "0" "00006" "FAM20C_000085" "g.299719C>T" "" "{PMID:Boissel 2017:29261186}" "" "" "" "Germline" "" "" "0" "" "" "g.259753C>T" "" "likely pathogenic (recessive)" "" "0001036307" "0" "30" "7" "193265" "193265" "subst" "0" "01804" "FAM20C_000086" "g.193265G>A" "" "" "" "FAM20C(NM_020223.4):c.66G>A (p.(Ala22=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 FAM20C ## Count = 99 "{{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}}" "0000000108" "00007401" "90" "796" "0" "796" "0" "c.796C>T" "r.(?)" "p.(Arg266Cys)" "" "0000000109" "00007401" "90" "117" "0" "117" "0" "c.117A>T" "r.(?)" "p.(=)" "" "0000248869" "00007401" "10" "1690" "0" "1690" "0" "c.1690A>G" "r.(?)" "p.(Asn564Asp)" "" "0000267968" "00007401" "10" "1659" "0" "1659" "0" "c.1659G>T" "r.(?)" "p.(Val553=)" "" "0000271403" "00007401" "30" "1652" "0" "1652" "0" "c.1652G>A" "r.(?)" "p.(Arg551His)" "" "0000271404" "00007401" "10" "1672" "0" "1672" "0" "c.1672C>T" "r.(?)" "p.(Arg558Trp)" "" "0000276581" "00007401" "30" "23" "0" "23" "0" "c.23G>A" "r.(?)" "p.(Arg8Gln)" "" "0000331356" "00007401" "50" "1118" "0" "1118" "0" "c.1118C>T" "r.(?)" "p.(Thr373Met)" "" "0000331357" "00007401" "50" "1241" "0" "1241" "0" "c.1241G>A" "r.(?)" "p.(Arg414His)" "" "0000331358" "00007401" "50" "1654" "0" "1654" "0" "c.1654G>A" "r.(?)" "p.(Val552Ile)" "" "0000531590" "00007401" "30" "46" "0" "46" "0" "c.46G>T" "r.(?)" "p.(Val16Leu)" "" "0000531591" "00007401" "30" "55" "0" "55" "0" "c.55G>T" "r.(?)" "p.(Val19Leu)" "" "0000531592" "00007401" "30" "200" "0" "200" "0" "c.200C>A" "r.(?)" "p.(Pro67His)" "" "0000531593" "00007401" "50" "202" "0" "202" "0" "c.202G>T" "r.(?)" "p.(Gly68Trp)" "" "0000531597" "00007401" "30" "646" "0" "646" "0" "c.646G>A" "r.(?)" "p.(Gly216Arg)" "" "0000531598" "00007401" "30" "733" "0" "733" "0" "c.733G>A" "r.(?)" "p.(Ala245Thr)" "" "0000531779" "00007401" "50" "895" "0" "895" "0" "c.895T>A" "r.(?)" "p.(Phe299Ile)" "" "0000531781" "00007401" "30" "953" "0" "956" "30" "c.953_956+30dup" "r.spl?" "p.?" "" "0000531782" "00007401" "30" "953" "0" "956" "30" "c.953_956+30dup" "r.spl?" "p.?" "" "0000531783" "00007401" "30" "999" "0" "999" "0" "c.999G>A" "r.(?)" "p.(Met333Ile)" "" "0000531790" "00007401" "50" "1363" "5" "1363" "5" "c.1363+5G>A" "r.spl?" "p.?" "" "0000531803" "00007401" "30" "1681" "0" "1681" "0" "c.1681G>A" "r.(?)" "p.(Val561Met)" "" "0000595749" "00007401" "70" "456" "0" "456" "0" "c.456dup" "r.(456dup)" "p.(Gly153Argfs*56)" "" "0000595806" "00007401" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000595807" "00007401" "90" "1645" "0" "1645" "0" "c.1645C>T" "r.(?)" "p.(Arg549Trp)" "" "0000595808" "00007401" "90" "1135" "0" "1135" "0" "c.1135G>A" "r.(?)" "p.(Gly379Arg)" "" "0000595809" "00007401" "70" "957" "-3" "957" "-3" "c.957-3C>G" "r.spl" "p.?" "" "0000595810" "00007401" "90" "1163" "0" "1163" "0" "c.1163T>G" "r.(?)" "p.(Leu388Arg)" "" "0000595811" "00007401" "90" "1136" "0" "1136" "0" "c.1136G>A" "r.(?)" "p.(Gly379Glu)" "" "0000595812" "00007401" "70" "956" "5" "956" "5" "c.956+5G>C" "r.spl" "p.?" "" "0000595813" "00007401" "90" "1446" "-1" "1446" "-1" "c.1446-1G>A" "r.spl" "p.?" "" "0000595814" "00007401" "90" "1364" "-2" "1364" "-2" "c.1364-2A>G" "r.spl" "p.?" "" "0000595840" "00007401" "90" "1351" "0" "1351" "0" "c.1351G>A" "r.(?)" "p.(Asp451Asn)" "" "0000595841" "00007401" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Gly280Arg)" "" "0000595842" "00007401" "90" "982" "0" "982" "0" "c.982C>T" "r.(?)" "p.(Pro328Ser)" "" "0000595844" "00007401" "90" "773" "0" "773" "0" "c.773T>A" "r.(?)" "p.(Ile258Asn)" "" "0000611035" "00007401" "30" "953" "0" "956" "30" "c.953_956+30dup" "r.spl?" "p.?" "" "0000652242" "00007401" "10" "646" "0" "646" "0" "c.646G>A" "r.(?)" "p.(Gly216Arg)" "" "0000729933" "00007401" "90" "1225" "0" "1225" "0" "c.1225C>T" "r.(?)" "p.(Arg409Cys)" "" "0000803127" "00007401" "30" "1559" "0" "1559" "0" "c.1559A>G" "r.(?)" "p.(Lys520Arg)" "" "0000818151" "00007401" "90" "1680" "0" "1680" "0" "c.1680C>A" "r.(?)" "p.(Cys560*)" "10" "0000837185" "00007401" "50" "1672" "0" "1672" "0" "c.1672C>T" "r.(?)" "p.(Arg558Trp)" "" "0000837186" "00007401" "50" "1690" "0" "1690" "0" "c.1690A>G" "r.(?)" "p.(Asn564Asp)" "" "0000851567" "00007401" "50" "565" "0" "565" "0" "c.565G>T" "r.(?)" "p.(Asp189Tyr)" "" "0000851588" "00007401" "30" "1228" "0" "1228" "0" "c.1228T>A" "r.(?)" "p.(Ser410Thr)" "" "0000851592" "00007401" "50" "1690" "0" "1690" "0" "c.1690A>C" "r.(?)" "p.(Asn564His)" "" "0000860738" "00007401" "50" "1182" "0" "1182" "0" "c.1182C>G" "r.(?)" "p.(Asp394Glu)" "" "0000887815" "00007401" "30" "46" "0" "46" "0" "c.46G>T" "r.(?)" "p.(Val16Leu)" "" "0000887852" "00007401" "50" "1643" "0" "1643" "0" "c.1643G>A" "r.(?)" "p.(Arg548Gln)" "" "0000887853" "00007401" "30" "1741" "0" "1741" "0" "c.1741G>A" "r.(?)" "p.(Ala581Thr)" "" "0000924704" "00007401" "50" "1018" "0" "1018" "0" "c.1018A>G" "r.(?)" "p.(Ile340Val)" "" "0000924706" "00007401" "50" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510His)" "" "0000929325" "00007401" "30" "6" "0" "6" "0" "c.6G>A" "r.(?)" "p.(=)" "" "0000952394" "00007401" "70" "307" "0" "308" "0" "c.307_308dup" "r.(?)" "p.(Ser104ArgfsTer27)" "1" "0000964556" "00007401" "10" "953" "0" "956" "30" "c.953_956+30dup" "r.spl?" "p.?" "" "0000964558" "00007401" "50" "1228" "0" "1228" "0" "c.1228T>A" "r.(?)" "p.(Ser410Thr)" "" "0000977670" "00007401" "50" "1021" "0" "1021" "0" "c.1021C>T" "r.(?)" "p.(Arg341Trp)" "" "0000977671" "00007401" "10" "1228" "0" "1228" "0" "c.1228T>A" "r.(?)" "p.(Ser410Thr)" "" "0000977672" "00007401" "50" "1376" "0" "1376" "0" "c.1376G>A" "r.(?)" "p.(Arg459His)" "" "0000977674" "00007401" "50" "1705" "0" "1705" "0" "c.1705G>A" "r.(?)" "p.(Val569Met)" "" "0000977675" "00007401" "50" "1717" "0" "1717" "0" "c.1717G>A" "r.(?)" "p.(Asp573Asn)" "" "0001023924" "00007401" "90" "1071" "0" "1071" "0" "c.1071A>G" "r.spl" "p.?" "" "0001023948" "00007401" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_10_" "0001023949" "00007401" "90" "-148270" "0" "863" "21018" "c.(-156720_-148270)_(863+21018_*223785)del" "r.0" "p.0" "_1_10_" "0001023952" "00007401" "90" "784" "5" "784" "5" "c.784+5G>C" "r.606_784del" "p.Trp202CysfsTer37" "2i" "0001023954" "00007401" "30" "1672" "0" "1672" "0" "c.1672C>T" "r.(?)" "p.(Arg558Trp)" "" "0001023955" "00007401" "90" "1487" "0" "1487" "0" "c.1487C>T" "r.(?)" "p.(Pro496Leu)" "" "0001023960" "00007401" "90" "456" "0" "456" "0" "c.456del" "r.(?)" "p.(Gly153Alafs*34)" "" "0001023961" "00007401" "90" "905" "0" "905" "0" "c.905del" "r.(?)" "p.(Phe302Serfs*35)" "" "0001023962" "00007401" "90" "1557" "0" "1557" "0" "c.1557C>G" "r.(?)" "p.(Tyr519*)" "" "0001023963" "00007401" "90" "676" "0" "676" "0" "c.676T>A" "r.(?)" "p.(Trp226Arg)" "" "0001023964" "00007401" "90" "863" "5" "863" "5" "c.863+5G>C" "r.spl" "p.?" "" "0001023965" "00007401" "90" "1645" "0" "1645" "0" "c.1645C>T" "r.(?)" "p.(Arg549Trp)" "" "0001023966" "00007401" "90" "1255" "0" "1255" "0" "c.1255T>C" "r.(?)" "p.(Trp419Arg)" "" "0001023967" "00007401" "90" "456" "0" "456" "0" "c.456dup" "r.(?)" "p.(Gly153Argfs*56)" "" "0001023968" "00007401" "90" "474" "0" "474" "0" "c.474del" "r.(?)" "p.(Ser159Profs*28)" "" "0001023969" "00007401" "90" "1108" "0" "1112" "0" "c.1108_1112dup" "r.(?)" "p.(Ser372Thrfs*60)" "" "0001023970" "00007401" "90" "1375" "0" "1375" "0" "c.1375C>G" "r.(?)" "p.(Arg459Gly)" "" "0001023971" "00007401" "90" "1228" "0" "1228" "0" "c.1228T>A" "r.(?)" "p.(Ser410Thr)" "" "0001023972" "00007401" "90" "1672" "0" "1672" "0" "c.1672C>T" "r.(?)" "p.(Arg558Trp)" "" "0001023973" "00007401" "90" "1135" "0" "1135" "0" "c.1135G>A" "r.(?)" "p.(Gly379Arg)" "" "0001023974" "00007401" "90" "1351" "0" "1351" "0" "c.1351G>A" "r.(?)" "p.(Asp451Asn)" "" "0001023975" "00007401" "90" "1351" "0" "1351" "0" "c.1351G>A" "r.(?)" "p.(Asp451Asn)" "" "0001023976" "00007401" "90" "496" "0" "496" "0" "c.496G>T" "r.(?)" "p.(Glu166*)" "" "0001023977" "00007401" "90" "803" "0" "803" "0" "c.803C>T" "r.(?)" "p.(Thr268Met)" "" "0001023978" "00007401" "90" "915" "0" "915" "0" "c.915C>A" "r.(?)" "p.(Tyr305*)" "" "0001023980" "00007401" "90" "906" "0" "906" "0" "c.906C>A" "r.(?)" "p.(Phe302Leu)" "" "0001023981" "00007401" "70" "952" "0" "956" "30" "c.952_956+30dup" "r.(?)" "p.(?,=)" "4_4i" "0001023982" "00007401" "90" "1219" "0" "1219" "0" "c.1219T>G" "r.(?)" "p.(Trp407Gly)" "" "0001023983" "00007401" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0001023984" "00007401" "90" "1094" "0" "1094" "0" "c.1094G>A" "r.(?)" "p.(Gly365Asp)" "" "0001023985" "00007401" "90" "-181" "0" "863" "1" "c.(?_-181)_(863+1_?)del" "r.0?" "p.0?" "_1_3_" "0001023986" "00007401" "90" "1007" "0" "1007" "0" "c.1007T>G" "r.(?)" "p.(Met336Arg)" "" "0001023987" "00007401" "90" "1225" "0" "1225" "0" "c.1225C>T" "r.(?)" "p.(Arg409Cys)" "" "0001023988" "00007401" "90" "1672" "0" "1672" "0" "c.1672C>T" "r.(?)" "p.(Arg558Trp)" "" "0001023989" "00007401" "90" "1680" "0" "1680" "0" "c.1680C>A" "r.(?)" "p.(Cys560*)" "" "0001023990" "00007401" "70" "956" "0" "956" "0" "c.956G>A" "r.(?)" "p.(Arg319Lys)" "" "0001023991" "00007401" "70" "1528" "0" "1528" "0" "c.1528C>T" "r.(?)" "p.(Arg510Cys)" "" "0001036307" "00007401" "30" "66" "0" "66" "0" "c.66G>A" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 62 "{{screeningid}}" "{{variantid}}" "0000000069" "0000000108" "0000000070" "0000000109" "0000081478" "0000000108" "0000265087" "0000595749" "0000265220" "0000595806" "0000265220" "0001023948" "0000265221" "0000595807" "0000265222" "0000595808" "0000265223" "0000595809" "0000265224" "0000595810" "0000265225" "0000595811" "0000265225" "0000595814" "0000265226" "0000595812" "0000265226" "0000595813" "0000265239" "0000595840" "0000265240" "0000595841" "0000265240" "0000595844" "0000265241" "0000595842" "0000295553" "0000652242" "0000332651" "0000729933" "0000380909" "0000000109" "0000389240" "0000818151" "0000402897" "0000837185" "0000402897" "0000837186" "0000443564" "0000000108" "0000445389" "0000952394" "0000463869" "0001023924" "0000463890" "0001023949" "0000463892" "0001023952" "0000463894" "0001023954" "0000463894" "0001023955" "0000463895" "0001023960" "0000463896" "0001023961" "0000463897" "0001023962" "0000463899" "0001023963" "0000463900" "0001023964" "0000463900" "0001023965" "0000463901" "0001023966" "0000463902" "0001023967" "0000463902" "0001023968" "0000463903" "0001023969" "0000463903" "0001023970" "0000463904" "0001023971" "0000463904" "0001023972" "0000463905" "0001023973" "0000463906" "0001023974" "0000463907" "0001023975" "0000463908" "0001023976" "0000463909" "0001023977" "0000463909" "0001023978" "0000463910" "0001023980" "0000463910" "0001023981" "0000463911" "0001023982" "0000463912" "0001023983" "0000463913" "0001023984" "0000463913" "0001023985" "0000463914" "0001023986" "0000463915" "0001023987" "0000463916" "0001023988" "0000463917" "0001023989" "0000463918" "0001023990" "0000463918" "0001023991"