### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GORAB) # 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}}" "GORAB" "golgin, RAB6-interacting" "1" "q24.2" "unknown" "NG_012237.2" "UD_132118986397" "" "https://www.LOVD.nl/GORAB" "" "1" "25676" "92344" "607983" "1" "1" "1" "1" "Alias SCYL1BP1.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/GORAB_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-04-13 11:47:13" "00000" "2025-11-01 13:22:20" ## 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}}" "00008727" "GORAB" "transcript variant 1" "002" "NM_152281.2" "" "NP_689494.2" "" "" "" "-27" "2556" "1185" "170501263" "170522974" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01328" "F8D" "deficiency, factor VIII, hereditary (F8D)" "" "134500" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-01-27 15:15:23" "01811" "GO" "geroderma osteodysplasticum" "IC" "231070" "" "typical facial features (senile appearance, droopy cheeks, downturned mouth corners, malar hypoplasia, prognathism, large protruded ears), reduced skin elasticity (decreased recoil, wrinkling on dorsum hands and abdomen when assuming sitting position), decreased bone density" "" "00006" "2014-09-25 23:29:40" "00006" "2023-04-17 18:21:09" "05296" "OI" "osteogenesis imperfecta" "" "" "" "" "" "00006" "2017-06-26 22:59:16" "00006" "2025-09-23 21:54:31" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "GORAB" "01811" ## Individuals ## Do not remove or alter this header ## ## Count = 46 "{{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}}" "00289587" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00331467" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "F" "yes" "" "" "0" "" "" "Arab" "14DG0734" "00331468" "" "" "" "2" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family, 2 affected (2F)" "F" "yes" "" "" "0" "" "" "Arab" "08DG-00180 ,08DG-00181" "00331469" "" "" "" "4" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family, 4 affected (2F, 2M)" "F;M" "yes" "" "" "0" "" "" "Arab" "11DG0067 ,11DG0211 , 11DG0212 , 11DG0213" "00331470" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family" "F" "yes" "" "" "0" "" "" "Arab" "12DG1561" "00331471" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family" "F" "yes" "" "" "0" "" "" "Arab" "13DG0087" "00331472" "" "" "" "2" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family, 2 affected (F, M)" "F;M" "yes" "" "" "0" "" "" "Arab" "DG07-0016 , DG07-0019" "00331473" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "M" "yes" "" "" "0" "" "" "Arab" "17DG0801" "00331474" "" "" "" "2" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family, 2 affected (2M)" "M" "no" "" "" "0" "" "" "Arab" "10DG2135 , 10DG2136" "00391136" "" "" "" "1" "" "04187" "" "" "F" "" "(United States)" "" "0" "" "" "" "" "00434915" "" "" "" "1" "" "00006" "{PMID:Hennies 2008:18997784}" "family" "" "" "Oman" "" "0" "" "" "" "OA" "00434916" "" "" "" "1" "" "00006" "{PMID:Hennies 2008:18997784}" "family" "" "" "Pakistan" "" "0" "" "" "" "P1" "00434917" "" "" "" "1" "" "00006" "{PMID:Hennies 2008:18997784}" "family" "" "" "Pakistan" "" "0" "" "" "" "P2" "00434918" "" "" "" "1" "" "00006" "{PMID:Hennies 2008:18997784}" "family" "" "" "Germany" "" "0" "" "" "" "GT1" "00434919" "" "" "" "1" "" "00006" "{PMID:Hennies 2008:18997784}" "family" "" "" "Libya" "" "0" "" "" "" "LS" "00434920" "" "" "" "1" "" "00006" "Pico 1993, {PMID:Hennies 2008:18997784}" "patient" "" "" "Italy" "" "0" "" "" "" "IG" "00434921" "" "" "" "4" "" "00006" "{PMID:Hennies 2008:18997784}" "2-generation family, 4 affected (3F, M), unaffected heterozygous parents" "F;M" "yes" "Germany" "" "0" "" "" "Mennonite" "GT2" "00434922" "" "" "" "4" "" "00006" "{PMID:Hennies 2008:18997784}" "2-generation family, 4 affected (3F, M), unaffected heterozygous parents" "F;M" "yes" "Germany" "" "0" "" "" "Mennonite" "GD1" "00434923" "" "" "" "4" "" "00006" "{PMID:Hunter 1978:631850}, {PMID:Hennies 2008:18997784}" "5-generation family, 4 affected (2F, 2M), unaffected heterozygous parents" "F;M" "yes" "Canada" "" "0" "" "" "Mennonite" "FamI;FamCD1" "00434924" "" "" "" "3" "" "00006" "{PMID:Hennies 2008:18997784}" "2-generation family, 3 affected (F, 2M), unaffected heterozygous parents" "F;M" "yes" "Mexico" "" "0" "" "" "Mennonite" "MP" "00434925" "" "" "" "1" "" "00006" "{PMID:Hennies 2008:18997784}" "" "" "" "United States" "" "0" "" "" "" "UR42" "00434926" "" "" "" "1" "" "00006" "{PMID:Hennies 2008:18997784}" "" "" "" "Italy" "" "0" "" "" "" "IR" "00434927" "" "" "" "1" "" "00006" "{PMID:Hennies 2008:18997784}" "" "" "" "United States" "" "0" "" "" "" "UT" "00434983" "" "" "" "2" "" "00006" "{PMID:Al-Dosari 2009:19681135}" "4-generation family, affected sister/brother, unaffected heterozygous parents/relatives" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam1Pat1" "00434984" "" "" "00434983" "1" "" "00006" "{PMID:Al-Dosari 2009:19681135}" "older brother" "M" "" "Saudi Arabia" "" "0" "" "" "" "Fam1Pat2" "00434985" "" "" "" "2" "" "00006" "{PMID:Al-Dosari 2009:19681135}" "5-generation family, 2 affected (F, M), unaffected heterozygous parents/relatives" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam2Pat3" "00434986" "" "" "" "2" "" "00006" "{PMID:Al-Dosari 2009:19681135}" "4-generation family, 2 affected sisters, unaffected heterozygous parents/relatives" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam4Pat6" "00434987" "" "" "" "1" "" "00006" "{PMID:Al-Dosari 2009:19681135}" "4-generation family, 1 affected, unaffected heterozygous parents/relatives" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam3Pat5" "00434988" "" "" "00434986" "1" "" "00006" "{PMID:Al-Dosari 2009:19681135}" "sister" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam4Pat7" "00434989" "" "" "00434985" "1" "" "00006" "{PMID:Al-Dosari 2009:19681135}" "cousin" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam2Pat4" "00465824" "" "" "" "2" "" "00006" "{PMID:Alazami 2016:27023906}" "family, 2 affected" "" "" "Saudi Arabia" "" "0" "" "" "" "Fam18" "00465825" "" "" "" "2" "" "00006" "{PMID:Alazami 2016:27023906}" "family, 2 affected" "" "" "Saudi Arabia" "" "0" "" "" "" "Fam19" "00465826" "" "" "" "2" "" "00006" "{PMID:Alazami 2016:27023906}" "family, 2 affected" "" "" "Saudi Arabia" "" "0" "" "" "" "Fam20" "00465827" "" "" "" "1" "" "00006" "{PMID:Alazami 2016:27023906}" "patient" "" "" "Saudi Arabia" "" "0" "" "" "" "Fam21" "00465828" "" "" "" "4" "" "00006" "{PMID:Alazami 2016:27023906}" "family, 4 affected" "" "" "Saudi Arabia" "" "0" "" "" "" "Fam22" "00465829" "" "" "" "1" "" "00006" "{PMID:Alazami 2016:27023906}" "patient" "" "" "Saudi Arabia" "" "0" "" "" "" "Fam23" "00465830" "" "" "" "3" "" "00006" "{PMID:Alazami 2016:27023906}" "family, 3 affected" "" "" "Saudi Arabia" "" "0" "" "" "" "Fam24" "00465831" "" "" "" "1" "" "00006" "{PMID:Alazami 2016:27023906}" "patient" "" "" "Saudi Arabia" "" "0" "" "" "" "Fam25" "00465832" "" "" "" "1" "" "00006" "{PMID:Alazami 2016:27023906}" "patient" "" "" "Saudi Arabia" "" "0" "" "" "" "Fam26" "00465833" "" "" "" "2" "" "00006" "{PMID:Alazami 2016:27023906}" "family, 2 affected" "" "" "Saudi Arabia" "" "0" "" "" "" "Fam27" "00465834" "" "" "" "2" "" "00006" "{PMID:Alazami 2016:27023906}" "family, 2 affected" "" "" "Saudi Arabia" "" "0" "" "" "" "Fam28" "00465835" "" "" "" "1" "" "00006" "{PMID:Alazami 2016:27023906}" "patient" "" "" "Saudi Arabia" "" "0" "" "" "" "Fam29" "00465836" "" "" "" "4" "" "00006" "{PMID:Alazami 2016:27023906}" "family, 4 affected" "" "" "Saudi Arabia" "" "0" "" "" "" "Fam30" "00465837" "" "" "" "1" "" "00006" "{PMID:Alazami 2016:27023906}" "patient" "" "" "Saudi Arabia" "" "0" "" "" "" "Fam31" "00465838" "" "" "" "1" "" "00006" "{PMID:Alazami 2016:27023906}" "patient" "" "" "Saudi Arabia" "" "0" "" "" "" "Fam32" "00466835" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat122" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 46 "{{individualid}}" "{{diseaseid}}" "00289587" "00198" "00331467" "05517" "00331468" "05517" "00331469" "05517" "00331470" "05517" "00331471" "05517" "00331472" "05517" "00331473" "05517" "00331474" "05517" "00391136" "01328" "00434915" "01811" "00434916" "01811" "00434917" "01811" "00434918" "01811" "00434919" "01811" "00434920" "01811" "00434921" "01811" "00434922" "01811" "00434923" "01811" "00434924" "01811" "00434925" "01811" "00434926" "01811" "00434927" "01811" "00434983" "01811" "00434984" "01811" "00434985" "01811" "00434986" "01811" "00434987" "01811" "00434988" "01811" "00434989" "01811" "00465824" "00198" "00465825" "00198" "00465826" "00198" "00465827" "00198" "00465828" "00198" "00465829" "00198" "00465830" "00198" "00465831" "00198" "00465832" "00198" "00465833" "00198" "00465834" "00198" "00465835" "00198" "00465836" "00198" "00465837" "00198" "00465838" "00198" "00466835" "05296" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01328, 01811, 05296, 05517 ## Count = 45 "{{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}}" "0000249659" "05517" "00331467" "00000" "Familial, autosomal recessive" "" "Generalized joint laxity, Hip dysplasia, Cutis laxa, Osteopenia" "" "" "" "" "" "" "" "" "Osteogenesis imperfecta and decreased bone density group" "skeletal dysplasia" "" "0000249660" "05517" "00331468" "00000" "Familial, autosomal recessive" "" "Joint laxity, Abnormal facial shape, Osteopenia, Progeroid facial appearance, Mandibular pYes" "" "" "" "" "" "" "" "" "Osteogenesis imperfecta and decreased bone density group" "skeletal dysplasia" "" "0000249661" "05517" "00331469" "00000" "Familial, autosomal recessive" "" "Cutis laxa, Joint laxity, Abnormal heart morphology, Osteopenia, Fractures, Wormian bon No" "" "" "" "" "" "" "" "" "Osteogenesis imperfecta and decreased bone density group" "skeletal dysplasia" "" "0000249662" "05517" "00331470" "00000" "Familial, autosomal recessive" "" "Congenital bilateral hip dislocation, Hyperextensibility at wrists, Failure to thrive, Delayed Yes" "" "" "" "" "" "" "" "" "Osteogenesis imperfecta and decreased bone density group" "skeletal dysplasia" "" "0000249663" "05517" "00331471" "00000" "Familial, autosomal recessive" "" "Global developmental delay, Multiple renal cysts, Thickened superior cerebellar peduncle, Yes" "" "" "" "" "" "" "" "" "Osteogenesis imperfecta and decreased bone density group" "skeletal dysplasia" "" "0000249664" "05517" "00331472" "00000" "Familial, autosomal recessive" "" "Cutis laxa, Joint laxity, Abnormal heart morphology, Kyphoscoliosis, Osteoporosis, Malar f No" "" "" "" "" "" "" "" "" "Osteogenesis imperfecta and decreased bone density group" "skeletal dysplasia" "" "0000249665" "05517" "00331473" "00000" "Familial, autosomal recessive" "" "Global developmental delay, Abnormal facial shape, Generalized joint laxity, Cutis laxa, KeNo" "" "" "" "" "" "" "" "" "Osteogenesis imperfecta and decreased bone density group" "skeletal dysplasia" "" "0000249666" "05517" "00331474" "00000" "Familial, autosomal recessive" "" "Osteopenia , Recurrent fractures" "" "" "" "" "" "" "" "" "Osteogenesis imperfecta and decreased bone density group" "skeletal dysplasia" "" "0000325131" "01328" "00391136" "04187" "Unknown" "" "dvt" "" "" "" "" "" "" "" "" "" "" "" "0000325162" "01811" "00434915" "00006" "Familial, autosomal recessive" "" "wrinkly skin, osteoporosis, reduced bone mineral density, no intellectual disability" "" "" "" "" "" "" "" "" "GO" "gerodermia osteodysplastica" "" "0000325163" "01811" "00434916" "00006" "Familial, autosomal recessive" "" "wrinkly skin, osteoporosis, reduced bone mineral density, no intellectual disability" "" "" "" "" "" "" "" "" "GO" "gerodermia osteodysplastica" "" "0000325164" "01811" "00434917" "00006" "Familial, autosomal recessive" "" "wrinkly skin, osteoporosis, reduced bone mineral density, no intellectual disability" "" "" "" "" "" "" "" "" "GO" "gerodermia osteodysplastica" "" "0000325165" "01811" "00434918" "00006" "Familial, autosomal recessive" "" "wrinkly skin, osteoporosis, reduced bone mineral density, no intellectual disability" "" "" "" "" "" "" "" "" "GO" "gerodermia osteodysplastica" "" "0000325166" "01811" "00434919" "00006" "Familial, autosomal recessive" "" "wrinkly skin, osteoporosis, reduced bone mineral density, no intellectual disability" "" "" "" "" "" "" "" "" "GO" "gerodermia osteodysplastica" "" "0000325167" "01811" "00434920" "00006" "Familial, autosomal recessive" "" "wrinkly skin, osteoporosis, reduced bone mineral density, no intellectual disability" "" "" "" "" "" "" "" "" "GO" "gerodermia osteodysplastica" "" "0000325168" "01811" "00434921" "00006" "Familial, autosomal recessive" "" "wrinkly skin, osteoporosis, reduced bone mineral density, no intellectual disability" "" "" "" "" "" "" "" "" "GO" "gerodermia osteodysplastica" "" "0000325169" "01811" "00434922" "00006" "Familial, autosomal recessive" "" "wrinkly skin, osteoporosis, reduced bone mineral density, no intellectual disability" "" "" "" "" "" "" "" "" "GO" "gerodermia osteodysplastica" "" "0000325170" "01811" "00434923" "00006" "Familial, autosomal recessive" "" "wrinkly skin, osteoporosis, reduced bone mineral density, no intellectual disability" "" "" "" "" "" "" "" "" "GO" "gerodermia osteodysplastica" "" "0000325171" "01811" "00434924" "00006" "Familial, autosomal recessive" "" "wrinkly skin, osteoporosis, reduced bone mineral density, no intellectual disability" "" "" "" "" "" "" "" "" "GO" "gerodermia osteodysplastica" "" "0000325172" "01811" "00434925" "00006" "Familial, autosomal recessive" "" "wrinkly skin, osteoporosis, reduced bone mineral density, no intellectual disability" "" "" "" "" "" "" "" "" "GO" "gerodermia osteodysplastica" "" "0000325173" "01811" "00434926" "00006" "Familial, autosomal recessive" "" "wrinkly skin, osteoporosis, reduced bone mineral density, no intellectual disability" "" "" "" "" "" "" "" "" "GO" "gerodermia osteodysplastica" "" "0000325174" "01811" "00434927" "00006" "Familial, autosomal recessive" "" "wrinkly skin, osteoporosis, reduced bone mineral density, no intellectual disability" "" "" "" "" "" "" "" "" "GO" "gerodermia osteodysplastica" "" "0000325230" "01811" "00434983" "00006" "Familial, autosomal recessive" "05y" "typical facial features (senile appearance, droopy cheeks, downturned mouth corners, malar hypoplasia, prognathism, large protruded ears), reduced skin elasticity (decreased recoil, wrinkling on dorsum hands/abdomen when assuming sitting position), radiology normal bone density; congenital dislocation hip" "" "" "" "" "" "" "" "" "GO" "geroderma osteodysplastica" "" "0000325231" "01811" "00434984" "00006" "Familial, autosomal recessive" "14y" "typical facial features (senile appearance, droopy cheeks, downturned mouth corners, malar hypoplasia, prognathism, large protruded ears), reduced skin elasticity (decreased recoil, wrinkling on dorsum hands/abdomen when assuming sitting position), reduced bone density; radiology kyphoscoliosis, cod-fish vertebrae, low Z score; recurrent fractures" "" "" "" "" "" "" "" "" "GO" "geroderma osteodysplastica" "" "0000325232" "01811" "00434985" "00006" "Familial, autosomal recessive" "05y" "typical facial features (senile appearance, droopy cheeks, downturned mouth corners, malar hypoplasia, prognathism, large protruded ears), reduced skin elasticity (decreased recoil, wrinkling on dorsum hands/abdomen when assuming sitting position), radiology minimally reduced bone density; one fracture, delayed closure of anterior fontanelle" "" "" "" "" "" "" "" "" "GO" "geroderma osteodysplastica" "" "0000325233" "01811" "00434986" "00006" "Familial, autosomal recessive" "11y" "typical facial features (senile appearance, droopy cheeks, downturned mouth corners, malar hypoplasia, prognathism, large protruded ears), reduced skin elasticity (decreased recoil, wrinkling on dorsum hands/abdomen when assuming sitting position); short stature; radiology minimal reduction in bone density" "" "" "" "" "" "" "" "" "GO" "geroderma osteodysplastica" "" "0000325234" "01811" "00434987" "00006" "Familial, autosomal recessive" "10y" "typical facial features (senile appearance, droopy cheeks, downturned mouth corners, malar hypoplasia, prognathism, large protruded ears), reduced skin elasticity (decreased recoil, wrinkling on dorsum hands/abdomen when assuming sitting position); congenital dislocation hip, recurrent fractures; radiology low Z score, abnormal cephalometric measurements" "" "" "" "" "" "" "" "" "GO" "geroderma osteodysplastica" "" "0000325235" "01811" "00434988" "00006" "Familial, autosomal recessive" "15y" "typical facial features (senile appearance, droopy cheeks, downturned mouth corners, malar hypoplasia, prognathism, large protruded ears), reduced skin elasticity (decreased recoil, wrinkling on dorsum hands/abdomen when assuming sitting position); recurrent fracture; radiology low Z score, abnormal cephalometric measurements" "" "" "" "" "" "" "" "" "GO" "geroderma osteodysplastica" "" "0000325236" "01811" "00434989" "00006" "Familial, autosomal recessive" "26y" "typical facial features (senile appearance, droopy cheeks, downturned mouth corners, malar hypoplasia, prognathism, large protruded ears), reduced skin elasticity (decreased recoil, wrinkling on dorsum hands/abdomen when assuming sitting position); fractures in childhood; radiology reduced bone density" "" "" "" "" "" "" "" "" "GO" "geroderma osteodysplastica" "" "0000351271" "00198" "00465824" "00006" "Familial, autosomal recessive" "" "see paper; ..., Skin and joint laxity, osteoporosis, good physical growth with typical gerodermia osteodysplastica facies (demonstrated by senile appearance caused by saggy cheeks and maxillary hypoplasia gives impression of prognathism)" "" "" "" "" "" "" "" "" "GO" "joint laxity" "" "0000351272" "00198" "00465825" "00006" "Familial, autosomal recessive" "" "see paper; ..., Skin and joint laxity, bilateral congenital dislocation hip and flat feet, significant osteopenia, hypotonia, dysmorphic features (progeroid face with decreased infraorbital fatty tissue, beaked nose, short philtrum)" "" "" "" "" "" "" "" "" "GO" "joint laxity" "" "0000351273" "00198" "00465826" "00006" "Familial, autosomal recessive" "" "see paper; ..., Skin and joint laxity, right congenital dislocation hip, severe osteopenia, short stature, dysmorphic features (saggy cheeks, long philtrum, crowding teeth)" "" "" "" "" "" "" "" "" "GO" "joint laxity" "" "0000351274" "00198" "00465827" "00006" "Familial, autosomal recessive" "" "see paper; ..., Joint laxity, congenital dislocation hip, osteopenia, fractures, Wormian bones, dysmorphic features (progeroid face with maxillary hypoplasia, mandibular prognathism)" "" "" "" "" "" "" "" "" "GO" "joint laxity" "" "0000351275" "00198" "00465828" "00006" "Familial, autosomal recessive" "" "see paper; ..., Skin and joint laxity, congenital dislocation hip, osteopenia, fractures, Wormian bones, dysmorphic features (progeroid face with maxillary hypoplasia, mandibular prognathism)" "" "" "" "" "" "" "" "" "GO" "joint laxity" "" "0000351276" "00198" "00465829" "00006" "Familial, autosomal recessive" "" "see paper; ..., Skin and joint laxity, congenital dislocation hip, osteopenia, fractures, Wormian bones and dysmorphic features (progeroid face with maxillary hypoplasia, mandibular prognathism)" "" "" "" "" "" "" "" "" "GO" "joint laxity" "" "0000351277" "00198" "00465830" "00006" "Familial, autosomal recessive" "" "see paper; ..., Skin and joint laxity, congenital dislocation hip, osteopenia, fractures, Wormian bones and dysmorphic features (progeroid face with maxillary hypoplasia, mandibular prognathism)" "" "" "" "" "" "" "" "" "GO" "joint laxity" "" "0000351278" "00198" "00465831" "00006" "Familial, autosomal recessive" "" "see paper; ..., Reduced skin elasticity with excessive wrinkling especially in the abdomen, joint laxity, congenital dislocation hip, motor delay, dysmorphic features (saggy cheeks, over folded upper pinnae)" "" "" "" "" "" "" "" "" "GO" "joint laxity" "" "0000351279" "00198" "00465832" "00006" "Familial, autosomal recessive" "" "see paper; ..., Skin and joint laxity, congenital dislocation hip, scoliosis, fractures, dysmorphic features (sagging face, malar hypoplasia, mandibular prognathism), morbid obesity, linear scleroderma, irregular periods, infertility, depression" "" "" "" "" "" "" "" "" "GO" "joint laxity" "" "0000351280" "00198" "00465833" "00006" "Familial, autosomal recessive" "" "see paper; ..., Skin and joint laxity, congenital dislocation hip, kyphoscoliosis, osteoporosis, fractures, dysmorphic features (senile appearance caused by droopy cheeks, prognathism, malar hypoplasia with significant crowding of maxillary teeth, aplastic lingual frenulum, prominent anteverted ears)" "" "" "" "" "" "" "" "" "GO" "joint laxity" "" "0000351281" "00198" "00465834" "00006" "Familial, autosomal recessive" "" "see paper; ..., Skin and joint laxity, congenital dislocation hip, bilateral talipes equinovarus, osteopenia, fractures and dysmorphic features (progeroid face with maxillary hypoplasia), subaortic stenosis" "" "" "" "" "" "" "" "" "GO" "joint laxity" "" "0000351282" "00198" "00465835" "00006" "Familial, autosomal recessive" "" "see paper; ..., Skin and joint laxity, congenital dislocation hip, osteopenia, fractures, Wormian bones, dysmorphic features (progeroid face with maxillary hypoplasia, mandibular prognathism)" "" "" "" "" "" "" "" "" "GO" "joint laxity" "" "0000351283" "00198" "00465836" "00006" "Familial, autosomal recessive" "" "see paper; ..., Skin and joint laxity, congenital dislocation hip, thin bones, fractures, osteopenia, osteoporosis, Wormian bones, low vitamin D, bronchial asthma, dysmorphic features (progeroid faces with maxillary hypoplasia, mandibular prognathism)" "" "" "" "" "" "" "" "" "GO" "joint laxity" "" "0000351284" "00198" "00465837" "00006" "Familial, autosomal recessive" "" "see paper; ..., Skin and joint laxity, congenital dislocation hip, osteoporosis, thin bones, dysmorphic features (droopy face, maxillary hypoplasia, mandibular prognathism)" "" "" "" "" "" "" "" "" "GO" "joint laxity" "" "0000351285" "00198" "00465838" "00006" "Familial, autosomal recessive" "" "see paper; ..., Skin laxity, fractures, osteopenia, Wormian bones, dysmorphic features (progeroid face with maxillary hypoplasia, mandibular prognathism)" "" "" "" "" "" "" "" "" "GO" "joint laxity" "" "0000352198" "05296" "00466835" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta" "" ## Screenings ## Do not remove or alter this header ## ## Count = 46 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000290755" "00289587" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000332686" "00331467" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332687" "00331468" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332688" "00331469" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332689" "00331470" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332690" "00331471" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332691" "00331472" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332692" "00331473" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332693" "00331474" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436364" "00391136" "1" "04187" "04187" "2023-04-09 05:02:49" "" "" "arraySNP" "DNA" "" "" "0000436388" "00434915" "1" "00006" "00006" "2023-04-14 13:51:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000436389" "00434916" "1" "00006" "00006" "2023-04-14 13:51:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000436390" "00434917" "1" "00006" "00006" "2023-04-14 13:51:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000436391" "00434918" "1" "00006" "00006" "2023-04-14 13:51:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000436392" "00434919" "1" "00006" "00006" "2023-04-14 13:51:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000436393" "00434920" "1" "00006" "00006" "2023-04-14 13:51:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000436394" "00434921" "1" "00006" "00006" "2023-04-14 13:51:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000436395" "00434922" "1" "00006" "00006" "2023-04-14 13:51:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000436396" "00434923" "1" "00006" "00006" "2023-04-14 13:51:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000436397" "00434924" "1" "00006" "00006" "2023-04-14 13:51:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000436398" "00434925" "1" "00006" "00006" "2023-04-14 13:51:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000436399" "00434926" "1" "00006" "00006" "2023-04-14 13:51:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000436400" "00434927" "1" "00006" "00006" "2023-04-14 13:51:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000436456" "00434983" "1" "00006" "00006" "2023-04-17 19:32:20" "" "" "SEQ" "DNA" "" "" "0000436457" "00434984" "1" "00006" "00006" "2023-04-17 19:42:09" "" "" "SEQ" "DNA" "" "" "0000436458" "00434985" "1" "00006" "00006" "2023-04-17 19:52:51" "" "" "SEQ" "DNA" "" "" "0000436459" "00434986" "1" "00006" "00006" "2023-04-17 19:52:51" "" "" "SEQ" "DNA" "" "" "0000436460" "00434987" "1" "00006" "00006" "2023-04-17 19:52:51" "" "" "SEQ" "DNA" "" "" "0000436461" "00434988" "1" "00006" "00006" "2023-04-17 19:52:51" "" "" "SEQ" "DNA" "" "" "0000436462" "00434989" "1" "00006" "00006" "2023-04-17 19:52:51" "" "" "SEQ" "DNA" "" "" "0000467475" "00465824" "1" "00006" "00006" "2025-06-07 12:17:17" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "WES" "0000467476" "00465825" "1" "00006" "00006" "2025-06-07 12:17:17" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "WES" "0000467477" "00465826" "1" "00006" "00006" "2025-06-07 12:17:17" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "WES" "0000467478" "00465827" "1" "00006" "00006" "2025-06-07 12:17:17" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "WES" "0000467479" "00465828" "1" "00006" "00006" "2025-06-07 12:17:17" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "WES" "0000467480" "00465829" "1" "00006" "00006" "2025-06-07 12:17:17" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "WES" "0000467481" "00465830" "1" "00006" "00006" "2025-06-07 12:17:17" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "WES" "0000467482" "00465831" "1" "00006" "00006" "2025-06-07 12:17:17" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "WES" "0000467483" "00465832" "1" "00006" "00006" "2025-06-07 12:17:17" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "WES" "0000467484" "00465833" "1" "00006" "00006" "2025-06-07 12:17:17" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "WES" "0000467485" "00465834" "1" "00006" "00006" "2025-06-07 12:17:17" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "WES" "0000467486" "00465835" "1" "00006" "00006" "2025-06-07 12:17:17" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "WES" "0000467487" "00465836" "1" "00006" "00006" "2025-06-07 12:17:17" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "WES" "0000467488" "00465837" "1" "00006" "00006" "2025-06-07 12:17:17" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "WES" "0000467489" "00465838" "1" "00006" "00006" "2025-06-07 12:17:17" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "WES" "0000468499" "00466835" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{geneid}}" "0000332686" "GORAB" "0000332687" "GORAB" "0000332688" "GORAB" "0000332689" "GORAB" "0000332690" "GORAB" "0000332691" "GORAB" "0000332692" "GORAB" "0000332693" "GORAB" "0000436364" "GORAB" "0000436456" "GORAB" "0000436457" "GORAB" "0000436458" "GORAB" "0000436459" "GORAB" "0000436460" "GORAB" "0000436461" "GORAB" "0000436462" "GORAB" ## 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 = 66 "{{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}}" "0000248471" "0" "10" "1" "170501385" "170501385" "subst" "0.982909" "02325" "GORAB_000001" "g.170501385A>C" "" "" "" "GORAB(NM_152281.3):c.21A>C (p.G7=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "benign" "" "0000281112" "0" "10" "1" "170521376" "170521376" "subst" "0.542849" "02325" "GORAB_000002" "g.170521376G>A" "" "" "" "GORAB(NM_001320252.2):c.418G>A (p.E140K), GORAB(NM_152281.3):c.883G>A (p.E295K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.170552235G>A" "" "benign" "" "0000504189" "0" "30" "1" "170508348" "170508348" "subst" "0.00443424" "01804" "GORAB_000004" "g.170508348T>C" "" "" "" "GORAB(NM_001146039.1):c.137-3T>C (p.?), GORAB(NM_152281.3):c.62-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.170539207T>C" "" "likely benign" "" "0000504190" "0" "90" "1" "170521413" "170521413" "subst" "0.0001625" "01943" "GORAB_000005" "g.170521413T>G" "" "" "" "GORAB(NM_001320252.1):c.455T>G (p.L152*), GORAB(NM_152281.3):c.920T>G (p.(Leu307Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.170552272T>G" "" "pathogenic" "" "0000620431" "0" "10" "1" "170501385" "170501385" "subst" "0.982909" "02329" "GORAB_000001" "g.170501385A>C" "" "" "" "GORAB(NM_152281.3):c.21A>C (p.G7=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000620432" "0" "10" "1" "170521376" "170521376" "subst" "0.542849" "02329" "GORAB_000002" "g.170521376G>A" "" "" "" "GORAB(NM_001320252.2):c.418G>A (p.E140K), GORAB(NM_152281.3):c.883G>A (p.E295K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.170552235G>A" "" "benign" "" "0000647444" "1" "50" "1" "170513884" "170513884" "subst" "0.000178847" "03575" "GORAB_000006" "g.170513884G>A" "8/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 heterozygous, no homozygous; {DB:CLININrs190557815}" "Germline" "" "rs190557815" "0" "" "" "g.170544743G>A" "" "VUS" "" "0000729968" "3" "90" "1" "170508520" "170508520" "dup" "0" "00000" "GORAB_000003" "g.170508520dup" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_152281.2:c.306dup:p.(Pro103Thrfs*20)" "" "Germline" "" "" "0" "" "" "g.170539379dup" "" "pathogenic (recessive)" "" "0000729969" "3" "90" "1" "170508440" "170508441" "ins" "0" "00000" "GORAB_000007" "g.170508440_170508441insA" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_152281.2:c.226_227insA:p.(Leu76Hisfs*24)" "variant description correct?, resembles c.226_227insA (=306dup) reported in other publications" "Germline" "" "" "0" "" "" "g.170539299_170539300insA" "" "likely pathogenic (!)" "" "0000729970" "3" "90" "1" "170508520" "170508520" "dup" "0" "00000" "GORAB_000003" "g.170508520dup" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_152281.2:c.306dup:p.(Pro103Thrfs*20)" "" "Germline" "" "" "0" "" "" "g.170539379dup" "" "pathogenic (recessive)" "" "0000729971" "3" "90" "1" "170508520" "170508520" "dup" "0" "00000" "GORAB_000003" "g.170508520dup" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_152281.2:c.306dup:p.(Pro103Thrfs*20)" "" "Germline" "" "" "0" "" "" "g.170539379dup" "" "pathogenic (recessive)" "" "0000729972" "3" "90" "1" "170508520" "170508520" "dup" "0" "00000" "GORAB_000003" "g.170508520dup" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_152281.2:c.306dup:p.(Pro103Thrfs*20)" "" "Germline" "" "" "0" "" "" "g.170539379dup" "" "pathogenic (recessive)" "" "0000729973" "3" "90" "1" "170513982" "170513982" "subst" "0" "00000" "GORAB_000008" "g.170513982G>C" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_152281.2:c.733G>C:p.(Ala245Pro)" "" "Germline" "" "" "0" "" "" "g.170544841G>C" "" "pathogenic (recessive)" "" "0000729974" "3" "90" "1" "170508520" "170508520" "dup" "0" "00000" "GORAB_000003" "g.170508520dup" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_152281.2:c.306dup:p.(Pro103Thrfs*20)" "" "Germline" "" "" "0" "" "" "g.170539379dup" "" "pathogenic (recessive)" "" "0000729975" "3" "90" "1" "170508520" "170508520" "dup" "0" "00000" "GORAB_000003" "g.170508520dup" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_152281.2:c.306dup:p.(Pro103Thrfs*20)" "" "Germline" "" "" "0" "" "" "g.170539379dup" "" "pathogenic (recessive)" "" "0000798899" "0" "50" "1" "170521212" "170521212" "subst" "4.06815E-6" "01804" "GORAB_000009" "g.170521212G>T" "" "" "" "GORAB(NM_152281.2):c.794G>T (p.(Arg265Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848388" "0" "10" "1" "170508348" "170508348" "subst" "0.00443424" "02329" "GORAB_000004" "g.170508348T>C" "" "" "" "GORAB(NM_001146039.1):c.137-3T>C (p.?), GORAB(NM_152281.3):c.62-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000857133" "0" "10" "1" "170501442" "170501442" "subst" "0.00278238" "02329" "GORAB_000010" "g.170501442A>C" "" "" "" "GORAB(NM_152281.3):c.61+17A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000910840" "0" "50" "1" "170513949" "170513949" "subst" "0.000296738" "01804" "GORAB_000011" "g.170513949C>T" "" "" "" "GORAB(NM_001146039.1):c.700C>T (p.(Arg234Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000922733" "0" "50" "1" "170508665" "170508665" "subst" "4.10317E-6" "04187" "GORAB_000012" "g.170508665C>G" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.170539524C>G" "" "VUS" "" "0000922766" "3" "90" "1" "170501364" "170501365" "delins" "0" "00006" "GORAB_000013" "g.170501364_170501365delinsCT" "" "{PMID:Hennies 2008:18997784}" "" "-1_1GA>CT (Met1?)" "normal mRNA level, no protein in fibroblasts" "Germline" "" "" "0" "" "" "g.170532223_170532224delinsCT" "" "pathogenic (recessive)" "" "0000922767" "3" "90" "1" "170501364" "170501365" "delins" "0" "00006" "GORAB_000013" "g.170501364_170501365delinsCT" "" "{PMID:Hennies 2008:18997784}" "" "-1_1GA>CT (Met1?)" "normal mRNA level, no protein in fibroblasts" "Germline" "" "" "0" "" "" "g.170532223_170532224delinsCT" "" "pathogenic (recessive)" "" "0000922768" "3" "90" "1" "170501364" "170501365" "delins" "0" "00006" "GORAB_000013" "g.170501364_170501365delinsCT" "" "{PMID:Hennies 2008:18997784}" "" "-1_1GA>CT (Met1?)" "normal mRNA level, no protein in fibroblasts" "Germline" "" "" "0" "" "" "g.170532223_170532224delinsCT" "" "pathogenic (recessive)" "" "0000922769" "1" "90" "1" "170508425" "170508425" "subst" "0" "00006" "GORAB_000014" "g.170508425G>T" "" "{PMID:Hennies 2008:18997784}" "" "136G>T" "normal mRNA level, no protein in fibroblasts" "Germline" "" "" "0" "" "" "g.170539284G>T" "" "pathogenic (recessive)" "" "0000922770" "3" "90" "1" "170508479" "170508479" "subst" "4.06174E-6" "00006" "GORAB_000015" "g.170508479C>T" "" "{PMID:Hennies 2008:18997784}" "" "190C>T" "normal mRNA level, no protein in fibroblasts" "Germline" "" "" "0" "" "" "g.170539338C>T" "" "pathogenic (recessive)" "" "0000922771" "3" "90" "1" "170508546" "170508546" "del" "0" "00006" "GORAB_000016" "g.170508546del" "" "{PMID:Hennies 2008:18997784}" "" "257delC" "normal mRNA level, no protein in fibroblasts" "Germline" "" "" "0" "" "" "g.170539405del" "" "pathogenic (recessive)" "" "0000922772" "3" "90" "1" "170508656" "170508656" "subst" "1.23079E-5" "00006" "GORAB_000018" "g.170508656G>T" "" "{PMID:Hennies 2008:18997784}" "" "367G>T" "normal mRNA level, no protein in fibroblasts" "Germline" "" "" "0" "" "" "g.170539515G>T" "" "pathogenic (recessive)" "" "0000922773" "3" "90" "1" "170508656" "170508656" "subst" "1.23079E-5" "00006" "GORAB_000018" "g.170508656G>T" "" "{PMID:Hennies 2008:18997784}" "" "367G>T" "normal mRNA level, no protein in fibroblasts" "Germline" "" "" "0" "" "" "g.170539515G>T" "" "pathogenic (recessive)" "" "0000922774" "3" "90" "1" "170508656" "170508656" "subst" "1.23079E-5" "00006" "GORAB_000018" "g.170508656G>T" "" "{PMID:Hennies 2008:18997784}" "" "367G>T" "normal mRNA level, no protein in fibroblasts" "Germline" "" "" "0" "" "" "g.170539515G>T" "" "pathogenic (recessive)" "" "0000922775" "3" "90" "1" "170508656" "170508656" "subst" "1.23079E-5" "00006" "GORAB_000018" "g.170508656G>T" "" "{PMID:Hennies 2008:18997784}" "" "367G>T" "normal mRNA level, no protein in fibroblasts" "Germline" "" "" "0" "" "" "g.170539515G>T" "" "pathogenic (recessive)" "" "0000922776" "1" "90" "1" "170513991" "170513991" "subst" "0" "00006" "GORAB_000019" "g.170513991G>C" "" "{PMID:Hennies 2008:18997784}" "" "662+5G>C" "normal mRNA level, no protein in fibroblasts" "Germline" "" "" "0" "" "" "g.170544850G>C" "" "pathogenic (recessive)" "" "0000922777" "3" "90" "1" "170521232" "170521232" "subst" "0" "00006" "GORAB_000020" "g.170521232C>T" "" "{PMID:Hennies 2008:18997784}" "" "739C>T" "normal mRNA level, no protein in fibroblasts" "Germline" "" "" "0" "" "" "g.170552091C>T" "" "pathogenic (recessive)" "" "0000922778" "3" "90" "1" "170521277" "170521277" "subst" "1.22016E-5" "00006" "GORAB_000021" "g.170521277C>T" "" "{PMID:Hennies 2008:18997784}" "" "784C>T" "normal mRNA level, no protein in fibroblasts" "Germline" "" "" "0" "" "" "g.170552136C>T" "" "pathogenic (recessive)" "" "0000922779" "2" "90" "1" "170521543" "170521546" "del" "0" "00006" "GORAB_000022" "g.170521543_170521546del" "" "{PMID:Hennies 2008:18997784}" "" "1050_1053delTCTT" "normal mRNA level, no protein in fibroblasts" "Germline" "" "" "0" "" "" "g.170552402_170552405del" "" "pathogenic (recessive)" "" "0000922780" "2" "90" "1" "170521277" "170521277" "subst" "1.22016E-5" "00006" "GORAB_000021" "g.170521277C>T" "" "{PMID:Hennies 2008:18997784}" "" "784C>T" "normal mRNA level, no protein in fibroblasts" "Germline" "" "" "0" "" "" "g.170552136C>T" "" "pathogenic (recessive)" "" "0000923003" "0" "30" "1" "170508577" "170508577" "subst" "2.85435E-5" "02329" "GORAB_000017" "g.170508577T>C" "" "" "" "GORAB(NM_152281.3):c.288T>C (p.G96=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927442" "3" "90" "1" "170513982" "170513982" "subst" "0" "00006" "GORAB_000008" "g.170513982G>C" "" "{PMID:Al-Dosari 2009:19681135}" "" "658G>C (A220P)" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000927443" "3" "90" "1" "170513982" "170513982" "subst" "0" "00006" "GORAB_000008" "g.170513982G>C" "" "{PMID:Al-Dosari 2009:19681135}" "" "658G>C (A220P)" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000927444" "3" "90" "1" "170508520" "170508520" "dup" "0" "00006" "GORAB_000003" "g.170508520dup" "" "{PMID:Al-Dosari 2009:19681135}" "" "226_227insA (Q76QfsX20)" "" "Germline" "yes" "" "0" "" "" "g.170539379dup" "" "pathogenic (recessive)" "" "0000927445" "3" "90" "1" "170508520" "170508520" "dup" "0" "00006" "GORAB_000003" "g.170508520dup" "" "{PMID:Al-Dosari 2009:19681135}" "" "226_227insA (Q76QfsX20)" "" "Germline" "yes" "" "0" "" "" "g.170539379dup" "" "pathogenic (recessive)" "" "0000927446" "3" "90" "1" "170508520" "170508520" "dup" "0" "00006" "GORAB_000003" "g.170508520dup" "" "{PMID:Al-Dosari 2009:19681135}" "" "226_227insA (Q76QfsX20)" "" "Germline" "yes" "" "0" "" "" "g.170539379dup" "" "pathogenic (recessive)" "" "0000927447" "3" "90" "1" "170508520" "170508520" "dup" "0" "00006" "GORAB_000003" "g.170508520dup" "" "{PMID:Al-Dosari 2009:19681135}" "" "226_227insA (Q76QfsX20)" "" "Germline" "yes" "" "0" "" "" "g.170539379dup" "" "pathogenic (recessive)" "" "0000927448" "3" "90" "1" "170508520" "170508520" "dup" "0" "00006" "GORAB_000003" "g.170508520dup" "" "{PMID:Al-Dosari 2009:19681135}" "" "226_227insA (Q76QfsX20)" "" "Germline" "yes" "" "0" "" "" "g.170539379dup" "" "pathogenic (recessive)" "" "0000960634" "0" "90" "1" "170508656" "170508656" "subst" "1.23079E-5" "02329" "GORAB_000018" "g.170508656G>T" "" "" "" "GORAB(NM_152281.3):c.367G>T (p.E123*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000973456" "0" "50" "1" "170508549" "170508549" "subst" "0" "01804" "GORAB_000023" "g.170508549G>A" "" "" "" "GORAB(NM_152281.3):c.260G>A (p.(Ser87Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973457" "0" "50" "1" "170521203" "170521203" "subst" "8.13392E-6" "01804" "GORAB_000024" "g.170521203A>T" "" "" "" "GORAB(NM_152281.3):c.710A>T (p.(Asp237Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973458" "0" "50" "1" "170521496" "170521496" "del" "0" "01804" "GORAB_000025" "g.170521496del" "" "" "" "GORAB(NM_152281.3):c.1003del (p.(Ser335ProfsTer4))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031463" "0" "50" "1" "170501317" "170501317" "dup" "0" "01804" "GORAB_000026" "g.170501317dup" "" "" "" "GORAB(NM_152281.3):c.-48dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031464" "0" "50" "1" "170521413" "170521413" "subst" "0.0001625" "01804" "GORAB_000005" "g.170521413T>G" "" "" "" "GORAB(NM_001320252.1):c.455T>G (p.L152*), GORAB(NM_152281.3):c.920T>G (p.(Leu307Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045287" "3" "90" "1" "170508520" "170508520" "dup" "0" "00006" "GORAB_000003" "g.170508520dup" "" "{PMID:Alazami 2016:27023906}" "" "306dupA" "" "Germline" "" "" "0" "" "" "g.170539379dup" "" "pathogenic (recessive)" "" "0001045288" "3" "90" "1" "170508520" "170508520" "dup" "0" "00006" "GORAB_000003" "g.170508520dup" "" "{PMID:Alazami 2016:27023906}" "" "306dupA" "" "Germline" "" "" "0" "" "" "g.170539379dup" "" "pathogenic (recessive)" "" "0001045289" "3" "90" "1" "170508520" "170508520" "dup" "0" "00006" "GORAB_000003" "g.170508520dup" "" "{PMID:Alazami 2016:27023906}" "" "306dupA" "" "Germline" "" "" "0" "" "" "g.170539379dup" "" "pathogenic (recessive)" "" "0001045290" "3" "90" "1" "170508520" "170508520" "dup" "0" "00006" "GORAB_000003" "g.170508520dup" "" "{PMID:Alazami 2016:27023906}" "" "306dupA" "" "Germline" "" "" "0" "" "" "g.170539379dup" "" "pathogenic (recessive)" "" "0001045291" "3" "90" "1" "170508520" "170508520" "dup" "0" "00006" "GORAB_000003" "g.170508520dup" "" "{PMID:Alazami 2016:27023906}" "" "306dupA" "" "Germline" "" "" "0" "" "" "g.170539379dup" "" "pathogenic (recessive)" "" "0001045292" "3" "90" "1" "170508520" "170508520" "dup" "0" "00006" "GORAB_000003" "g.170508520dup" "" "{PMID:Alazami 2016:27023906}" "" "306dupA" "" "Germline" "" "" "0" "" "" "g.170539379dup" "" "pathogenic (recessive)" "" "0001045293" "3" "90" "1" "170508520" "170508520" "dup" "0" "00006" "GORAB_000003" "g.170508520dup" "" "{PMID:Alazami 2016:27023906}" "" "306dupA" "" "Germline" "" "" "0" "" "" "g.170539379dup" "" "pathogenic (recessive)" "" "0001045294" "3" "90" "1" "170508520" "170508520" "dup" "0" "00006" "GORAB_000003" "g.170508520dup" "" "{PMID:Alazami 2016:27023906}" "" "306dupA" "" "Germline" "" "" "0" "" "" "g.170539379dup" "" "pathogenic (recessive)" "" "0001045295" "3" "90" "1" "170508520" "170508520" "dup" "0" "00006" "GORAB_000003" "g.170508520dup" "" "{PMID:Alazami 2016:27023906}" "" "306dupA" "" "Germline" "" "" "0" "" "" "g.170539379dup" "" "pathogenic (recessive)" "" "0001045296" "3" "90" "1" "170513982" "170513982" "subst" "0" "00006" "GORAB_000008" "g.170513982G>C" "" "{PMID:Alazami 2016:27023906}" "" "" "" "Germline" "" "" "0" "" "" "g.170544841G>C" "" "pathogenic (recessive)" "" "0001045297" "3" "90" "1" "170508520" "170508520" "dup" "0" "00006" "GORAB_000003" "g.170508520dup" "" "{PMID:Alazami 2016:27023906}" "" "301_302insA" "" "Germline" "" "" "0" "" "" "g.170539379dup" "" "pathogenic (recessive)" "" "0001045298" "3" "90" "1" "170508520" "170508520" "dup" "0" "00006" "GORAB_000003" "g.170508520dup" "" "{PMID:Alazami 2016:27023906}" "" "301_302insA" "" "Germline" "" "" "0" "" "" "g.170539379dup" "" "pathogenic (recessive)" "" "0001045299" "3" "90" "1" "170508520" "170508520" "dup" "0" "00006" "GORAB_000003" "g.170508520dup" "" "{PMID:Alazami 2016:27023906}" "" "301_302insA" "" "Germline" "" "" "0" "" "" "g.170539379dup" "" "pathogenic (recessive)" "" "0001045300" "3" "90" "1" "170508520" "170508520" "dup" "0" "00006" "GORAB_000003" "g.170508520dup" "" "{PMID:Alazami 2016:27023906}" "" "301_302insA" "" "Germline" "" "" "0" "" "" "g.170539379dup" "" "pathogenic (recessive)" "" "0001045301" "3" "90" "1" "170508520" "170508520" "dup" "0" "00006" "GORAB_000003" "g.170508520dup" "" "{PMID:Alazami 2016:27023906}" "" "301_302insA" "" "Germline" "" "" "0" "" "" "g.170539379dup" "" "pathogenic (recessive)" "" "0001048333" "3" "50" "1" "170513848" "170513848" "subst" "0" "00006" "GORAB_000027" "g.170513848C>T" "" "{PMID:Tuysuz 2022:34902613}" "" "NM_152281.3:c.524C>T (Ser175Phe)" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.170544707C>T" "" "VUS" "" "0001050349" "0" "50" "1" "170513973" "170513973" "subst" "6.10734E-5" "01804" "GORAB_000028" "g.170513973T>C" "" "" "" "GORAB(NM_152281.3):c.649T>C (p.(Tyr217His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 GORAB ## Count = 66 "{{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}}" "0000248471" "00008727" "10" "96" "0" "96" "0" "c.96=" "r.(=)" "p.(Gly32=)" "" "0000281112" "00008727" "10" "958" "0" "958" "0" "c.958G>A" "r.(?)" "p.(Glu320Lys)" "" "0000504189" "00008727" "30" "137" "-3" "137" "-3" "c.137-3T>C" "r.spl?" "p.?" "" "0000504190" "00008727" "90" "995" "0" "995" "0" "c.995T>G" "r.(?)" "p.(Leu332Ter)" "" "0000620431" "00008727" "10" "96" "0" "96" "0" "c.96=" "r.(=)" "p.(Gly32=)" "" "0000620432" "00008727" "10" "958" "0" "958" "0" "c.958G>A" "r.(?)" "p.(Glu320Lys)" "" "0000647444" "00008727" "50" "635" "0" "635" "0" "c.635G>A" "r.(?)" "p.(Arg212Gln)" "" "0000729968" "00008727" "90" "306" "0" "306" "0" "c.306dup" "r.(?)" "p.(Pro103Thrfs*20)" "" "0000729969" "00008727" "90" "226" "0" "227" "0" "c.226_227insA" "r.(?)" "p.(Leu76Hisfs*24)" "" "0000729970" "00008727" "90" "306" "0" "306" "0" "c.306dup" "r.(?)" "p.(Pro103Thrfs*20)" "" "0000729971" "00008727" "90" "306" "0" "306" "0" "c.306dup" "r.(?)" "p.(Pro103Thrfs*20)" "" "0000729972" "00008727" "90" "306" "0" "306" "0" "c.306dup" "r.(?)" "p.(Pro103Thrfs*20)" "" "0000729973" "00008727" "90" "733" "0" "733" "0" "c.733G>C" "r.(?)" "p.(Ala245Pro)" "" "0000729974" "00008727" "90" "306" "0" "306" "0" "c.306dup" "r.(?)" "p.(Pro103Thrfs*20)" "" "0000729975" "00008727" "90" "306" "0" "306" "0" "c.306dup" "r.(?)" "p.(Pro103Thrfs*20)" "" "0000798899" "00008727" "50" "794" "0" "794" "0" "c.794G>T" "r.(?)" "p.(Arg265Leu)" "" "0000848388" "00008727" "10" "137" "-3" "137" "-3" "c.137-3T>C" "r.spl?" "p.?" "" "0000857133" "00008727" "10" "136" "17" "136" "17" "c.136+17A>C" "r.(=)" "p.(=)" "" "0000910840" "00008727" "50" "700" "0" "700" "0" "c.700C>T" "r.(?)" "p.(Arg234Trp)" "" "0000922733" "00008727" "50" "451" "0" "451" "0" "c.451C>G" "r.(?)" "p.(Pro151Ala)" "2" "0000922766" "00008727" "90" "75" "0" "76" "0" "c.75_76delinsCT" "r.(?)" "p.(Met26Leu)" "1" "0000922767" "00008727" "90" "75" "0" "76" "0" "c.75_76delinsCT" "r.(?)" "p.(Met26Leu)" "1" "0000922768" "00008727" "90" "75" "0" "76" "0" "c.75_76delinsCT" "r.(?)" "p.(Met26Leu)" "1" "0000922769" "00008727" "90" "211" "0" "211" "0" "c.211G>T" "r.(?)" "p.(Glu71Ter)" "2" "0000922770" "00008727" "90" "265" "0" "265" "0" "c.265C>T" "r.(?)" "p.(Gln89Ter)" "2" "0000922771" "00008727" "90" "332" "0" "332" "0" "c.332del" "r.(?)" "p.(Pro111ArgfsTer70)" "2" "0000922772" "00008727" "90" "442" "0" "442" "0" "c.442G>T" "r.(?)" "p.(Glu148Ter)" "2" "0000922773" "00008727" "90" "442" "0" "442" "0" "c.442G>T" "r.(?)" "p.(Glu148Ter)" "2" "0000922774" "00008727" "90" "442" "0" "442" "0" "c.442G>T" "r.(?)" "p.(Glu148Ter)" "2" "0000922775" "00008727" "90" "442" "0" "442" "0" "c.442G>T" "r.(?)" "p.(Glu148Ter)" "2" "0000922776" "00008727" "90" "737" "5" "737" "5" "c.737+5G>C" "r.spl" "p.(Ser200_Arg246del)" "4" "0000922777" "00008727" "90" "814" "0" "814" "0" "c.814C>T" "r.(?)" "p.(Gln272Ter)" "5" "0000922778" "00008727" "90" "859" "0" "859" "0" "c.859C>T" "r.(?)" "p.(Arg287Ter)" "5" "0000922779" "00008727" "90" "1125" "0" "1128" "0" "c.1125_1128del" "r.(?)" "p.(Phe375LeufsTer26)" "5" "0000922780" "00008727" "90" "859" "0" "859" "0" "c.859C>T" "r.(?)" "p.(Arg287Ter)" "5" "0000923003" "00008727" "30" "363" "0" "363" "0" "c.363T>C" "r.(?)" "p.(Gly121=)" "" "0000927442" "00008727" "90" "733" "0" "733" "0" "c.733G>C" "r.(?)" "p.(Ala245Pro)" "" "0000927443" "00008727" "90" "733" "0" "733" "0" "c.733G>C" "r.(?)" "p.(Ala245Pro)" "" "0000927444" "00008727" "90" "306" "0" "306" "0" "c.306dup" "r.(?)" "p.(Pro103Thrfs*20)" "" "0000927445" "00008727" "90" "306" "0" "306" "0" "c.306dup" "r.(?)" "p.(Pro103Thrfs*20)" "" "0000927446" "00008727" "90" "306" "0" "306" "0" "c.306dup" "r.(?)" "p.(Pro103Thrfs*20)" "" "0000927447" "00008727" "90" "306" "0" "306" "0" "c.306dup" "r.(?)" "p.(Pro103Thrfs*20)" "" "0000927448" "00008727" "90" "306" "0" "306" "0" "c.306dup" "r.(?)" "p.(Pro103Thrfs*20)" "" "0000960634" "00008727" "90" "442" "0" "442" "0" "c.442G>T" "r.(?)" "p.(Glu148*)" "" "0000973456" "00008727" "50" "335" "0" "335" "0" "c.335G>A" "r.(?)" "p.(Ser112Asn)" "" "0000973457" "00008727" "50" "785" "0" "785" "0" "c.785A>T" "r.(?)" "p.(Asp262Val)" "" "0000973458" "00008727" "50" "1078" "0" "1078" "0" "c.1078del" "r.(?)" "p.(Ser360Profs*4)" "" "0001031463" "00008727" "50" "28" "0" "28" "0" "c.28dup" "r.(?)" "p.(Ala10Glyfs*26)" "" "0001031464" "00008727" "50" "995" "0" "995" "0" "c.995T>G" "r.(?)" "p.(Leu332Ter)" "" "0001045287" "00008727" "90" "306" "0" "306" "0" "c.306dup" "r.(?)" "p.(Pro103ThrfsTer20)" "" "0001045288" "00008727" "90" "306" "0" "306" "0" "c.306dup" "r.(?)" "p.(Pro103ThrfsTer20)" "" "0001045289" "00008727" "90" "306" "0" "306" "0" "c.306dup" "r.(?)" "p.(Pro103ThrfsTer20)" "" "0001045290" "00008727" "90" "306" "0" "306" "0" "c.306dup" "r.(?)" "p.(Pro103ThrfsTer20)" "" "0001045291" "00008727" "90" "306" "0" "306" "0" "c.306dup" "r.(?)" "p.(Pro103ThrfsTer20)" "" "0001045292" "00008727" "90" "306" "0" "306" "0" "c.306dup" "r.(?)" "p.(Pro103ThrfsTer20)" "" "0001045293" "00008727" "90" "306" "0" "306" "0" "c.306dup" "r.(?)" "p.(Pro103ThrfsTer20)" "" "0001045294" "00008727" "90" "306" "0" "306" "0" "c.306dup" "r.(?)" "p.(Pro103ThrfsTer20)" "" "0001045295" "00008727" "90" "306" "0" "306" "0" "c.306dup" "r.(?)" "p.(Pro103ThrfsTer20)" "" "0001045296" "00008727" "90" "733" "0" "733" "0" "c.733G>C" "r.(?)" "p.(Ala245Pro)" "" "0001045297" "00008727" "90" "306" "0" "306" "0" "c.306dup" "r.(?)" "p.(Pro103ThrfsTer20)" "" "0001045298" "00008727" "90" "306" "0" "306" "0" "c.306dup" "r.(?)" "p.(Pro103ThrfsTer20)" "" "0001045299" "00008727" "90" "306" "0" "306" "0" "c.306dup" "r.(?)" "p.(Pro103ThrfsTer20)" "" "0001045300" "00008727" "90" "306" "0" "306" "0" "c.306dup" "r.(?)" "p.(Pro103ThrfsTer20)" "" "0001045301" "00008727" "90" "306" "0" "306" "0" "c.306dup" "r.(?)" "p.(Pro103ThrfsTer20)" "" "0001048333" "00008727" "50" "599" "0" "599" "0" "c.599C>T" "r.(?)" "p.(Ser200Phe)" "" "0001050349" "00008727" "50" "724" "0" "724" "0" "c.724T>C" "r.(?)" "p.(Tyr242His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 48 "{{screeningid}}" "{{variantid}}" "0000290755" "0000647444" "0000332686" "0000729968" "0000332687" "0000729969" "0000332688" "0000729970" "0000332689" "0000729971" "0000332690" "0000729972" "0000332691" "0000729973" "0000332692" "0000729974" "0000332693" "0000729975" "0000436364" "0000922733" "0000436388" "0000922766" "0000436389" "0000922767" "0000436390" "0000922768" "0000436391" "0000922769" "0000436391" "0000922779" "0000436392" "0000922770" "0000436393" "0000922771" "0000436394" "0000922772" "0000436395" "0000922773" "0000436396" "0000922774" "0000436397" "0000922775" "0000436398" "0000922776" "0000436398" "0000922780" "0000436399" "0000922777" "0000436400" "0000922778" "0000436456" "0000927442" "0000436457" "0000927443" "0000436458" "0000927444" "0000436459" "0000927445" "0000436460" "0000927446" "0000436461" "0000927447" "0000436462" "0000927448" "0000467475" "0001045287" "0000467476" "0001045288" "0000467477" "0001045289" "0000467478" "0001045290" "0000467479" "0001045291" "0000467480" "0001045292" "0000467481" "0001045293" "0000467482" "0001045294" "0000467483" "0001045295" "0000467484" "0001045296" "0000467485" "0001045297" "0000467486" "0001045298" "0000467487" "0001045299" "0000467488" "0001045300" "0000467489" "0001045301" "0000468499" "0001048333"