![](\"gfx/LOVD_logo_OIFE.png\"){kind=logo}
Osteogenesis Imperfecta Federation Europe (OIFE)" "" "g" "https://databases.lovd.nl/shared/refseq/CRTAP_codingDNA.html" "1" "" "![](\"gfx/LOVD_logo_IDdatabase.png\"){kind=logo}
Osteogenesis Imperfecta Variant Database\r\n" "-1" "" "-1" "00001" "2008-06-23 00:00:00" "00085" "2022-04-05 12:54:06" "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}}" "00005701" "CRTAP" "cartilage associated protein" "001" "NM_006371.4" "" "NP_006362.1" "" "" "" "-120" "6531" "1206" "33155450" "33189265" "" "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" "02970" "OI7" "osteogenesis imperfecta, type VII (OI7)" "AR" "610682" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-05-16 21:53:30" "05296" "OI" "osteogenesis imperfecta" "" "" "" "" "" "00006" "2017-06-26 22:59:16" "00006" "2025-09-23 21:54:31" "05398" "CLCRP" "Cole-Carpenter syndrome (CLCRP)" "" "" "" "" "" "00006" "2018-02-23 14:44:55" "00006" "2021-12-10 21:51:32" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "CRTAP" "02970" "CRTAP" "05296" ## Individuals ## Do not remove or alter this header ## ## Count = 39 "{{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}}" "00081014" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00154406" "" "" "" "1" "" "00006" "{PMID:Balasubramanian 2015:25604815}" "2-generation family, 1 affected, unaffected heterozygous carrier parents (first cousin)" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "25604815-" "00327454" "" "" "" "1" "" "00006" "{PMID:Demir 2021:33470886}" "analysis 43 OI patients" "F" "" "Turkey" "" "0" "" "" "" "B39" "00331387" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family" "M" "yes" "" "" "0" "" "" "Arab" "11DG1959" "00331388" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "F" "yes" "" "" "0" "" "" "Arab" "11DG2122" "00373295" "" "" "" "1" "" "03864" "{PMID:Caparrós-Martin 2013:23613367}" "" "" "" "Egypt" "" "0" "" "" "" "Family 3" "00373296" "" "" "" "1" "" "00085" "{PMID:Barnes 2006:17192541}" "This patient has been reported subsequently as Proband 1 by {PMID:Chang et al., 2010:19846465}. However, the mutation descriptions in that publication do not conform to HGVS guidelines." "" "" "Germany" "" "0" "" "" "" "Infant 3" "00373297" "" "" "" "1" "" "03854" "{PMID:van Dijk 2009:19550437}" "This patient belongs to family 1 and is VI:5 in the pedigree. The variant detected in this patient has been shown by {PMID25641760:Mathijssen et al., 2015} to be a common cause of OI types IIB and III in a genetically isolated Dutch community." "" "" "" "" "0" "" "" "white" "" "00373298" "" "" "" "1" "" "03856" "" "" "" "" "Pakistan" "" "0" "" "" "" "" "00373299" "" "" "" "1" "" "03704" "{PMID:Baldridge 2008:18566967}" "This patient is referred to as Family 43 in {PMID21239989:Pyott et al., 2011}." "" "" "Lebanon" "" "0" "" "" "" "Proband 1" "00373300" "" "" "" "1" "" "03854" "{PMID:van Dijk 2009:19550437}" "" "" "" "" "" "0" "" "" "white" "" "00373301" "" "" "" "1" "" "00085" "{PMID:Valli 2012:21955071}" "" "" "" "Egypt" "" "0" "" "" "" "" "00373302" "" "" "" "1" "" "00085" "{PMID:Stephen 2015:25450603}" "The patient has an affected twin sister & elder sister and the parents are consanguineous and confirmed to be heterozygous for the variant." "" "" "India" "" "0" "" "" "" "Family 3" "00373303" "" "" "" "1" "" "03854" "{PMID:van Dijk 2009:19550437}" "The patient is individual II:1 in family 3." "" "" "" "" "0" "" "" "white" "" "00373304" "" "" "" "1" "" "03704" "{PMID:Baldridge 2008:18566967}" "" "" "" "Iran" "" "0" "" "" "" "Proband 3" "00373305" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00373306" "" "" "" "1" "" "03704" "{PMID:Baldridge 2008:18566967}" "" "" "" "" "" "0" "" "" "white" "Proband 2" "00373307" "" "" "" "1" "" "03854" "{PMID:van Dijk 2009:19550437}" "The patient is from family 2." "" "" "Morocco" "" "0" "" "" "" "" "00373308" "" "" "" "1" "" "00085" "{PMID:Caparros-Martin 2016:28116328}" "" "" "" "Egypt" "" "0" "" "" "" "No. 89" "00373309" "" "" "" "1" "" "00085" "{PMID:Barnes 2006:17192541}" "This patient has been reported subsequently as Proband 3 by {PMID:Chang et al., 2010:19846465}." "" "" "Pakistan" "" "0" "" "" "" "Infant 1" "00373310" "" "" "" "1" "" "03704" "{PMID:Bodian 2009:18996919}" "This patient is referred to as Family 44 in {PMID21239989:Pyott et al., 2011}." "" "" "Iceland" "" "0" "" "" "" "C3" "00373311" "" "" "" "1" "" "03854" "{PMID:van Dijk 2009:19550437}" "The patient is from family 5.; The patient was subsequently presented in Figure 6B of {PMID22570641:van Dijk et al., 2011} and described as having OI type III." "" "" "" "" "0" "" "" "white" "" "00373312" "" "" "" "1" "" "03870" "" "" "" "" "" "" "0" "" "" "" "" "00373313" "" "" "" "1" "" "03853" "{PMID:Morello 2006:17055431}" "The family in which this mutation was detected has previously been described by {PMID:Ward et al., 2002:12110406}. Further studies on the affected children are presented by {PMID:Fratzl-Zelman et al., 2009:19895918}. This patient is described as Individual T1 by {PMID25086671:Rauch et al., 2014}." "" "" "Canada" "" "0" "" "" "First Nations Canadian" "" "00373314" "" "" "" "1" "" "00085" "{PMID:Barbirato 2015:26634552}" "" "" "" "" "" "0" "" "" "" "P5" "00373315" "" "" "" "1" "" "00085" "{PMID:Shaheen 2012:23054245}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "OI_F9" "00373316" "" "" "" "1" "" "00085" "{PMID:Chang 2010:19846465}" "" "" "" "United States" "" "0" "" "" "African-American" "Proband 4" "00373317" "" "" "" "1" "" "03853" "{PMID:Ben Amor 2011:21964860}" "" "" "" "Sudan" "" "0" "" "" "" "" "00373318" "" "" "" "1" "" "00085" "{PMID:Barnes 2006:17192541}" "This patient has been reported subsequently as Proband 2 by {PMID:Chang et al., 2010:19846465}.; This patients family has the ID OI_F8 and is of Saudi Arabian origin ({PMID23054245:Shaheen et al., 2012}). This appears to be at odds with the original description of the patient as black." "" "" "" "" "0" "" "" "black" "Infant 2" "00373319" "" "" "" "1" "" "03704" "{PMID:Morello 2006:17055431}" "This patient is referred to as Family 45 in {PMID21239989:Pyott et al., 2011}." "" "" "India" "" "0" "" "" "" "" "00373320" "" "" "" "1" "" "01819" "{PMID:Essawi 2018:29150909}, {DOI:Essawi 2018:10.1002/mgg3.331}" "" "" "" "Palestine" "" "0" "" "" "" "AN_005817" "00373321" "" "" "" "1" "" "01819" "{PMID:Essawi 2018:29150909}, {DOI:Essawi 2018:10.1002/mgg3.331}" "" "M" "" "Palestine" "" "0" "" "" "" "AN_005818" "00373322" "" "" "" "1" "" "00085" "" "" "" "" "" "" "0" "" "" "" "" "00373323" "" "" "" "1" "" "00085" "" "" "" "" "" "" "0" "" "" "" "" "00373324" "" "" "" "1" "" "00085" "{PMID:Caparros-Martin 2016:28116328}" "" "" "" "Egypt" "" "0" "" "" "" "No. 53" "00373325" "" "" "" "1" "" "00085" "{PMID:Caparros-Martin 2016:28116328}" "Both parents are heterozygous for the c.1112dup variant but no DNA was available for testing from the proband." "" "" "Sudan" "" "0" "" "" "" "No. 1010" "00410179" "" "" "" "1" "" "04315" "{PMID:Kuptanon 2022:35703132}, {DOI:Kuptanon 2022:10.1111/cge.14172}" "" "F" "yes" "Thailand" "" "0" "" "" "" "Pat2" "00435092" "" "" "" "1" "" "04465" "{PMID:Udupa 2023:37146916}" "A 20-week-old male fetus showed bone developmental abnormalities. The fetus was medically aborted. " "M" "yes" "? (unknown)" "00y00m" "" "" "" "" "Pat1" "00466826" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat113" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 39 "{{individualid}}" "{{diseaseid}}" "00081014" "02970" "00154406" "05398" "00327454" "05296" "00331387" "05517" "00331388" "05517" "00373295" "05296" "00373296" "05296" "00373297" "05296" "00373298" "05296" "00373299" "05296" "00373300" "05296" "00373301" "05296" "00373302" "05296" "00373303" "05296" "00373304" "05296" "00373305" "05296" "00373306" "05296" "00373307" "05296" "00373308" "05296" "00373309" "05296" "00373310" "05296" "00373311" "05296" "00373312" "05296" "00373313" "05296" "00373314" "05296" "00373315" "05296" "00373316" "05296" "00373317" "05296" "00373318" "05296" "00373319" "05296" "00373320" "05296" "00373321" "05296" "00373322" "00198" "00373323" "00198" "00373324" "05296" "00373325" "05296" "00410179" "02970" "00435092" "02970" "00466826" "05296" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02970, 05296, 05398, 05517 ## Count = 39 "{{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}}" "0000060583" "02970" "00081014" "01758" "Familial, autosomal recessive" "" "Osteogenesis imperfecta, type VII (OMIM:610682)" "" "" "" "" "" "" "" "" "" "" "" "0000127080" "05398" "00154406" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "osteogenesis imperfecta, type VII (OI-7)" "Cole-Carpenter syndrome" "" "0000245743" "05296" "00327454" "00006" "Unknown" "5y" "" "" "" "" "" "" "" "" "" "OI-7" "osteogenesis imperfecta" "" "0000249579" "05517" "00331387" "00000" "Familial, autosomal recessive" "" "Skeletal dysplasia, Wide anterior fontanel, Micrognathia, Hand polydactyly, Narrow chest,Yes" "" "" "" "" "" "" "" "" "Osteogenesis imperfecta and decreased bone density group" "skeletal dysplasia" "" "0000249580" "05517" "00331388" "00000" "Familial, autosomal recessive" "" "Osteopenia , Recurrent fractures" "" "" "" "" "" "" "" "" "Osteogenesis imperfecta and decreased bone density group" "skeletal dysplasia" "" "0000268571" "05296" "00373295" "03864" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268572" "05296" "00373296" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI II" "" "0000268573" "05296" "00373297" "03854" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI II/III" "" "0000268574" "05296" "00373298" "03856" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VII" "" "0000268575" "05296" "00373299" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI II/III" "" "0000268576" "05296" "00373300" "03854" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268577" "05296" "00373301" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VII" "" "0000268578" "05296" "00373302" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268579" "05296" "00373303" "03854" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI IIC/III" "" "0000268580" "05296" "00373304" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268581" "05296" "00373305" "03894" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VII" "" "0000268582" "05296" "00373306" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI II/III" "" "0000268583" "05296" "00373307" "03854" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI II/III" "" "0000268584" "05296" "00373308" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268585" "05296" "00373309" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI II" "" "0000268586" "05296" "00373310" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI II" "" "0000268587" "05296" "00373311" "03854" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI II/III" "" "0000268588" "05296" "00373312" "03870" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI II" "" "0000268589" "05296" "00373313" "03853" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VII" "" "0000268590" "05296" "00373314" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI IV" "" "0000268591" "05296" "00373315" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268592" "05296" "00373316" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VII" "" "0000268593" "05296" "00373317" "03853" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268594" "05296" "00373318" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI II" "" "0000268595" "05296" "00373319" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI II" "" "0000268596" "05296" "00373320" "01819" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VII" "" "0000268597" "05296" "00373321" "01819" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI VII" "" "0000268598" "00198" "00373322" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000268599" "00198" "00373323" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000268600" "05296" "00373324" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268601" "05296" "00373325" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI II" "" "0000302283" "02970" "00410179" "04315" "Familial, autosomal recessive" "07y" "Dentinogenesis imperfecta (HP:0000703), Blue sclerae (HP:0000592), Brachycephaly (HP:0000248), Macrocephaly (HP:0000256)" "01y05m" "" "Bone fracture (HP:0020110)" "" "" "" "" "" "" "" "" "0000325331" "02970" "00435092" "04465" "Familial, autosomal recessive" "00y00m" "" "" "" "" "" "" "" "" "" "" "" "" "0000352189" "05296" "00466826" "00006" "Familial, autosomal recessive" "" "OI3 progressively deforming osteogenesis imperfecta" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta" "" ## Screenings ## Do not remove or alter this header ## ## Count = 39 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000081126" "00081014" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000155266" "00154406" "1" "00006" "00006" "2018-02-23 15:46:53" "" "" "SEQ" "DNA" "" "gene panel" "0000328666" "00327454" "1" "00006" "00006" "2021-01-21 13:10:01" "" "" "SEQ;SEQ-NG" "DNA" "" "57-gene panel" "0000332606" "00331387" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332607" "00331388" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000374529" "00373295" "1" "03864" "03864" "2012-12-31 12:29:48" "00085" "2018-10-02 11:55:06" "SEQ" "DNA" "" "" "0000374530" "00373296" "1" "00085" "00085" "2008-06-24 12:50:15" "00085" "2011-02-18 15:49:13" "PCR;SEQ" "DNA" "" "" "0000374531" "00373297" "1" "03854" "03854" "2008-12-29 14:29:14" "00085" "2015-02-04 15:28:41" "SEQ" "DNA" "" "" "0000374532" "00373298" "1" "03856" "03856" "2011-02-11 11:19:14" "00085" "2011-02-11 15:17:06" "SEQ" "DNA" "" "" "0000374533" "00373299" "1" "03704" "00085" "2008-06-24 11:33:45" "00085" "2011-04-08 08:39:44" "PCR;SEQ" "DNA" "" "" "0000374534" "00373300" "1" "03854" "03854" "2008-12-29 15:12:17" "00085" "2011-02-18 15:34:04" "SEQ" "DNA" "" "" "0000374535" "00373301" "1" "00085" "00085" "2011-10-01 19:06:33" "00085" "2013-03-22 10:13:47" "PCR;SEQ" "DNA" "" "" "0000374536" "00373302" "1" "00085" "00085" "2015-04-14 14:43:24" "00085" "2015-04-14 14:43:46" "PCR;SEQ" "DNA" "" "" "0000374537" "00373303" "1" "03854" "03854" "2008-12-29 14:45:30" "00085" "2011-02-18 15:37:51" "SEQ" "DNA" "" "" "0000374538" "00373304" "1" "03704" "00085" "2008-06-24 11:26:18" "00085" "2011-02-18 15:36:47" "PCR;SEQ" "DNA" "" "" "0000374539" "00373305" "1" "03894" "03894" "2018-09-25 14:31:55" "00085" "2018-10-02 13:52:02" "PCR;SEQ;SEQ-NG" "DNA" "" "WES" "0000374540" "00373306" "1" "03704" "00085" "2008-06-24 11:23:46" "00085" "2011-02-18 15:30:21" "PCR;SEQ" "DNA" "" "" "0000374541" "00373307" "1" "03854" "03854" "2008-12-29 14:41:32" "00085" "2011-02-18 15:39:05" "SEQ" "DNA" "" "" "0000374542" "00373308" "1" "00085" "00085" "2017-03-17 09:59:57" "" "" "PCR;SEQ" "DNA" "" "" "0000374543" "00373309" "1" "00085" "00085" "2008-06-24 11:57:31" "00085" "2011-02-18 15:47:55" "PCR;SEQ" "DNA" "" "" "0000374544" "00373310" "1" "03704" "00085" "2008-11-19 13:38:36" "00085" "2011-04-08 08:41:12" "PCR;SEQ" "DNA" "" "" "0000374545" "00373311" "1" "03854" "03854" "2008-12-29 15:15:51" "00085" "2017-04-24 14:52:29" "SEQ" "DNA" "" "" "0000374546" "00373312" "1" "03870" "03870" "2010-09-16 10:33:03" "00085" "2013-04-17 10:00:18" "SEQ" "DNA" "" "" "0000374547" "00373313" "1" "03853" "00085" "2008-06-24 13:44:52" "00085" "2014-08-05 13:05:42" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000374548" "00373314" "1" "00085" "00085" "2009-11-30 12:22:48" "00085" "2015-12-08 16:23:04" "PCR;SEQ;SSCA" "DNA" "" "" "0000374549" "00373315" "1" "00085" "00085" "2012-11-13 10:31:05" "" "" "PCR;SEQ" "DNA" "" "" "0000374550" "00373316" "1" "00085" "00085" "2009-10-23 13:13:54" "00085" "2011-02-18 15:47:24" "PCR;SEQ" "DNA" "" "" "0000374551" "00373317" "1" "03853" "03853" "2009-02-04 16:59:03" "00085" "2011-10-07 08:06:40" "SEQ" "DNA" "" "" "0000374552" "00373318" "1" "00085" "00085" "2008-06-24 12:40:24" "00085" "2012-10-12 14:13:43" "PCR;SEQ" "DNA" "" "" "0000374553" "00373319" "1" "03704" "00085" "2008-06-24 13:33:32" "00085" "2011-04-08 08:41:59" "PCR;SEQ" "DNA" "" "" "0000374554" "00373320" "1" "01819" "01819" "2016-11-28 16:24:56" "" "" "PCR;SEQ" "DNA" "" "" "0000374555" "00373321" "1" "01819" "01819" "2016-11-28 16:27:51" "" "" "PCR;SEQ" "DNA" "" "" "0000374556" "00373322" "1" "00085" "00085" "2009-11-30 12:24:04" "" "" "?" "?" "" "" "0000374557" "00373323" "1" "00085" "00085" "2009-11-30 12:25:38" "" "" "?" "?" "" "" "0000374558" "00373324" "1" "00085" "00085" "2017-03-16 16:31:49" "00085" "2017-03-16 16:32:55" "PCR;SEQ" "DNA" "" "" "0000374559" "00373325" "1" "00085" "00085" "2017-03-17 10:37:33" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" "custom gene panel" "0000411442" "00410179" "1" "04315" "04315" "2022-05-19 15:45:49" "" "" "SEQ-NG-I" "DNA" "" "" "0000436564" "00435092" "1" "04465" "04465" "2023-05-08 16:45:53" "00006" "2023-05-26 09:08:27" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "Whole Exome Sequencing (WES)" "0000468490" "00466826" "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 = 38 "{{screeningid}}" "{{geneid}}" "0000081126" "CRTAP" "0000155266" "CRTAP" "0000328666" "CRTAP" "0000332606" "CRTAP" "0000332607" "CRTAP" "0000374529" "CRTAP" "0000374530" "CRTAP" "0000374531" "CRTAP" "0000374532" "CRTAP" "0000374533" "CRTAP" "0000374534" "CRTAP" "0000374535" "CRTAP" "0000374536" "CRTAP" "0000374537" "CRTAP" "0000374538" "CRTAP" "0000374539" "CRTAP" "0000374540" "CRTAP" "0000374541" "CRTAP" "0000374542" "CRTAP" "0000374543" "CRTAP" "0000374544" "CRTAP" "0000374545" "CRTAP" "0000374546" "CRTAP" "0000374547" "CRTAP" "0000374548" "CRTAP" "0000374549" "CRTAP" "0000374550" "CRTAP" "0000374551" "CRTAP" "0000374552" "CRTAP" "0000374553" "CRTAP" "0000374554" "CRTAP" "0000374555" "CRTAP" "0000374556" "CRTAP" "0000374557" "CRTAP" "0000374558" "CRTAP" "0000374559" "CRTAP" "0000411442" "CRTAP" "0000436564" "CRTAP" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 86 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000130212" "3" "70" "3" "33155729" "33155736" "del" "0" "01758" "CRTAP_000040" "g.33155729_33155736del" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.33114237_33114244del" "" "likely pathogenic" "ACMG" "0000250089" "0" "10" "3" "33161922" "33161922" "subst" "0.00782724" "02329" "CRTAP_000022" "g.33161922A>G" "" "" "" "CRTAP(NM_006371.5):c.558A>G (p.A186=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33120430A>G" "" "benign" "" "0000267128" "0" "10" "3" "33174156" "33174156" "subst" "0.370429" "02325" "CRTAP_000023" "g.33174156T>G" "" "" "" "CRTAP(NM_006371.5):c.1032T>G (p.T344=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33132664T>G" "" "benign" "" "0000267129" "0" "10" "3" "33155782" "33155782" "subst" "0.149888" "02325" "CRTAP_000038" "g.33155782G>A" "" "" "" "CRTAP(NM_006371.5):c.213G>A (p.L71=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33114290G>A" "" "benign" "" "0000267130" "0" "10" "3" "33161898" "33161898" "subst" "0.170316" "02325" "CRTAP_000021" "g.33161898C>T" "" "" "" "CRTAP(NM_006371.5):c.534C>T (p.D178=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33120406C>T" "" "benign" "" "0000267131" "0" "90" "3" "33161899" "33161899" "subst" "0" "02325" "CRTAP_000041" "g.33161899G>T" "" "" "" "CRTAP(NM_006371.5):c.535G>T (p.E179*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33120407G>T" "" "pathogenic" "" "0000268577" "0" "10" "3" "33174156" "33174156" "subst" "0.370429" "02329" "CRTAP_000023" "g.33174156T>G" "" "" "" "CRTAP(NM_006371.5):c.1032T>G (p.T344=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33132664T>G" "" "benign" "" "0000268578" "0" "70" "3" "33155769" "33155769" "subst" "0" "02329" "CRTAP_000004" "g.33155769T>C" "" "" "" "CRTAP(NM_006371.5):c.200T>C (p.L67P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33114277T>C" "" "likely pathogenic" "" "0000268579" "0" "90" "3" "33155590" "33155591" "dup" "0" "02329" "CRTAP_000011" "g.33155590_33155591dup" "" "" "" "CRTAP(NM_006371.5):c.21_22dupGG (p.A8Gfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33114098_33114099dup" "" "pathogenic" "" "0000268580" "0" "10" "3" "33155782" "33155782" "subst" "0.149888" "02329" "CRTAP_000038" "g.33155782G>A" "" "" "" "CRTAP(NM_006371.5):c.213G>A (p.L71=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33114290G>A" "" "benign" "" "0000268581" "0" "10" "3" "33161898" "33161898" "subst" "0.170316" "02329" "CRTAP_000021" "g.33161898C>T" "" "" "" "CRTAP(NM_006371.5):c.534C>T (p.D178=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33120406C>T" "" "benign" "" "0000268582" "0" "30" "3" "33165884" "33165884" "subst" "0.0037164" "02329" "CRTAP_000042" "g.33165884T>C" "" "" "" "CRTAP(NM_006371.5):c.622-16T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33124392T>C" "" "likely benign" "" "0000268583" "0" "30" "3" "33166010" "33166010" "subst" "0.00211981" "02329" "CRTAP_000043" "g.33166010C>T" "" "" "" "CRTAP(NM_006371.5):c.732C>T (p.L244=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33124518C>T" "" "likely benign" "" "0000354937" "3" "90" "3" "33155687" "33155687" "subst" "0" "00006" "CRTAP_000039" "g.33155687G>T" "" "{PMID:Balasubramanian 2015:25604815}" "" "" "" "Germline" "" "" "0" "" "" "g.33114195G>T" "" "pathogenic" "" "0000519047" "0" "90" "3" "33155590" "33155591" "dup" "0" "02325" "CRTAP_000011" "g.33155590_33155591dup" "" "" "" "CRTAP(NM_006371.5):c.21_22dupGG (p.A8Gfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33114098_33114099dup" "" "pathogenic" "" "0000519048" "0" "30" "3" "33165919" "33165919" "subst" "0.00626579" "01804" "CRTAP_000045" "g.33165919T>C" "" "" "" "CRTAP(NM_006371.4):c.641T>C (p.(Val214Ala)), CRTAP(NM_006371.5):c.641T>C (p.V214A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33124427T>C" "" "likely benign" "" "0000519049" "0" "10" "3" "33165919" "33165919" "subst" "0.00626579" "02329" "CRTAP_000045" "g.33165919T>C" "" "" "" "CRTAP(NM_006371.4):c.641T>C (p.(Val214Ala)), CRTAP(NM_006371.5):c.641T>C (p.V214A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33124427T>C" "" "benign" "" "0000519050" "0" "10" "3" "33174168" "33174168" "subst" "0.370382" "02325" "CRTAP_000024" "g.33174168G>A" "" "" "" "CRTAP(NM_006371.5):c.1044G>A (p.S348=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33132676G>A" "" "benign" "" "0000519051" "0" "10" "3" "33174168" "33174168" "subst" "0.370382" "02329" "CRTAP_000024" "g.33174168G>A" "" "" "" "CRTAP(NM_006371.5):c.1044G>A (p.S348=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33132676G>A" "" "benign" "" "0000519052" "0" "30" "3" "33183879" "33183879" "subst" "0.000243776" "02329" "CRTAP_000046" "g.33183879T>C" "" "" "" "CRTAP(NM_006371.5):c.1153-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33142387T>C" "" "likely benign" "" "0000689025" "0" "90" "3" "33166009" "33166010" "del" "0" "01943" "CRTAP_000047" "g.33166009_33166010del" "" "" "" "CRTAP(NM_006371.4):c.731_732delTC (p.L244Rfs*34)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000712625" "3" "70" "3" "33174110" "33174110" "del" "0" "00006" "CRTAP_000048" "g.33174110del" "" "{PMID:Demir 2021:33470886}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.33132618del" "" "likely pathogenic" "" "0000719350" "0" "50" "3" "33166002" "33166002" "subst" "1.2183E-5" "01943" "CRTAP_000049" "g.33166002G>A" "" "" "" "CRTAP(NM_006371.4):c.724G>A (p.E242K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000729888" "3" "90" "3" "33171463" "33171463" "subst" "1.62447E-5" "00000" "CRTAP_000006" "g.33171463C>T" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_006371.4:c.826C>T:p.(Gln276*)" "" "Germline" "" "" "0" "" "" "g.33129971C>T" "" "pathogenic (recessive)" "" "0000729889" "3" "90" "3" "33161925" "33161925" "subst" "0" "00000" "CRTAP_000027" "g.33161925T>G" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_006371.4:c.561T>G:p.(Tyr187*)" "" "Germline" "" "" "0" "" "" "g.33120433T>G" "" "pathogenic (recessive)" "" "0000785310" "3" "99" "3" "33153893" "33157632" "del" "0" "03864" "CRTAP_000028" "g.33153893_33157632del" "" "{PMID:Caparrós-Martin 2013:23613367}" "" "" "variant description for which the patient is homozygous is formally invalid as the 5´ break point lies outside of the reference sequence." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785311" "11" "99" "3" "33155572" "33155572" "subst" "0" "00085" "CRTAP_000007" "g.33155572G>A" "" "{PMID:Barnes 2006:17192541}" "NlaIV-" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785312" "3" "99" "3" "33155590" "33155591" "dup" "0" "03854" "CRTAP_000011" "g.33155590_33155591dup" "" "{PMID:van Dijk 2009:19550437}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785313" "3" "99" "3" "33155591" "33155591" "dup" "0" "03856" "CRTAP_000025" "g.33155591dup" "" "" "" "c.22dupG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785314" "3" "99" "3" "33155593" "33155600" "del" "0" "03704" "CRTAP_000001" "g.33155593_33155600del" "" "{PMID:Baldridge 2008:18566967}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785315" "21" "55" "3" "33155607" "33155607" "subst" "0" "03854" "CRTAP_000019" "g.33155607C>A" "" "{PMID:van Dijk 2009:19550437}" "" "" "The patient is from family 4.; The c.38C>A and c.469A>G variants reside on the same maternally inherited allele. This combination of alelleic variants is described as c.[38C>A;469A>G]. The relative contributions of these variants to the phenotype is not entirely understood." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000785316" "3" "99" "3" "33155687" "33155702" "delins" "0" "00085" "CRTAP_000026" "g.33155687_33155702delinsTACCC" "" "{PMID:Valli 2012:21955071}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785317" "3" "99" "3" "33155702" "33155702" "subst" "0" "00085" "CRTAP_000030" "g.33155702G>T" "" "{PMID:Stephen 2015:25450603}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785318" "0" "99" "3" "33155767" "33155767" "subst" "0" "03854" "CRTAP_000014" "g.33155767C>A" "" "{PMID:van Dijk 2009:19550437}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785319" "3" "99" "3" "33155769" "33155769" "subst" "0" "03704" "CRTAP_000004" "g.33155769T>C" "" "{PMID:Baldridge 2008:18566967}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785320" "11" "99" "3" "33155771" "33155771" "subst" "0" "03894" "CRTAP_000036" "g.33155771G>T" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785321" "0" "99" "3" "33155847" "33155862" "dup" "0" "03704" "CRTAP_000002" "g.33155847_33155862dup" "" "{PMID:Baldridge 2008:18566967}" "HpaII-" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785322" "21" "99" "3" "33155847" "33155862" "dup" "0" "00085" "CRTAP_000002" "g.33155847_33155862dup" "" "{PMID:Barnes 2006:17192541}" "HpaII-" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785323" "3" "99" "3" "33155973" "33155973" "del" "0" "03854" "CRTAP_000012" "g.33155973del" "" "{PMID:van Dijk 2009:19550437}" "" "c.404delG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785324" "3" "99" "3" "33156021" "33156021" "subst" "0" "00085" "CRTAP_000034" "g.33156021T>C" "" "{PMID:Caparros-Martin 2016:28116328}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785325" "21" "55" "3" "33156038" "33156038" "subst" "0" "03854" "CRTAP_000017" "g.33156038A>G" "" "{PMID:van Dijk 2009:19550437}" "" "" "The patient is from family 4.; The c.38C>A and c.469A>G variants reside on the same maternally inherited allele. This combination of alelleic variants is described as c.[38C>A;469A>G]. The relative contributions of these variants to the phenotype is not entirely understood." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000785326" "3" "99" "3" "33156041" "33156041" "subst" "0" "00085" "CRTAP_000005" "g.33156041G>C" "" "{PMID:Barnes 2006:17192541}" "MwoI+" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785327" "3" "99" "3" "33156042" "33156042" "subst" "8.43256E-5" "03704" "CRTAP_000010" "g.33156042C>A" "" "{PMID:Bodian 2009:18996919}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785328" "0" "99" "3" "33156042" "33156042" "subst" "8.43256E-5" "03854" "CRTAP_000010" "g.33156042C>A" "" "{PMID:van Dijk 2009:19550437}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785329" "3" "99" "3" "33156042" "33156042" "subst" "8.43256E-5" "03854" "CRTAP_000010" "g.33156042C>A" "" "{PMID:van Dijk 2009:19550437}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785330" "3" "99" "3" "33156042" "33156042" "subst" "8.43256E-5" "03870" "CRTAP_000010" "g.33156042C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785331" "21" "99" "3" "33156044" "33156044" "del" "0" "03894" "CRTAP_000037" "g.33156044del" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Germline" "" "" "0" "" "" "g.33114552del" "" "pathogenic" "" "0000785332" "3" "99" "3" "33160815" "33160815" "subst" "0" "03853" "CRTAP_000009" "g.33160815C>G" "" "{PMID:Morello 2006:17055431}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785333" "0" "11" "3" "33161898" "33161898" "subst" "0.170316" "00085" "CRTAP_000021" "g.33161898C>T" "" "{PMID:Barbirato 2015:26634552}" "" "" "It has been suggested by {PMID26634552:Barbirato et al., 2015} that the homozygous c.558A>G variant alters splicing and so might be the cause of OI type IV in this proband who is homozygous for this variant. I can find no evidence that this variant has an effect on splicing." "Germline" "" "rs4076086" "0" "" "" "" "" "benign" "" "0000785334" "3" "71" "3" "33161922" "33161922" "subst" "0.00782724" "00085" "CRTAP_000022" "g.33161922A>G" "" "{PMID:Barbirato 2015:26634552}" "" "" "It has been suggested by {PMID26634552:Barbirato et al., 2005} that the homozygous c.558A>G variant alters splicing and so might be the cause of OI type IV in this proband who is homozygous for this variant. I can find no evidence that this variant has an effect on splicing." "Germline" "" "rs35357409" "0" "" "" "" "" "likely pathogenic" "" "0000785335" "3" "99" "3" "33161925" "33161925" "subst" "0" "00085" "CRTAP_000027" "g.33161925T>G" "" "{PMID:Shaheen 2012:23054245}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785336" "0" "99" "3" "33165912" "33165912" "subst" "1.62438E-5" "00085" "CRTAP_000020" "g.33165912C>T" "" "{PMID:Chang 2010:19846465}" "DdeI+" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785337" "3" "99" "3" "33171441" "33171446" "del" "0" "03853" "CRTAP_000018" "g.33171441_33171446del" "" "{PMID:Ben Amor 2011:21964860}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785338" "0" "99" "3" "33171459" "33171463" "delins" "0" "03704" "CRTAP_000003" "g.33171459_33171463delinsT" "" "{PMID:Baldridge 2008:18566967}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785339" "3" "99" "3" "33171463" "33171463" "subst" "1.62447E-5" "00085" "CRTAP_000006" "g.33171463C>T" "" "{PMID:Barnes 2006:17192541}" "HpyCH4III-" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785340" "0" "99" "3" "33171463" "33171463" "subst" "1.62447E-5" "00085" "CRTAP_000006" "g.33171463C>T" "" "{PMID:Chang 2010:19846465}" "HpyCH4III-" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785341" "3" "99" "3" "33171516" "33171516" "del" "0" "03704" "CRTAP_000008" "g.33171516del" "" "{PMID:Morello 2006:17055431}" "" "c.879delT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785342" "10" "99" "3" "33174045" "33174045" "subst" "0" "03854" "CRTAP_000016" "g.33174045A>G" "" "{PMID:van Dijk 2009:19550437}" "" "" "The patient is from family 4.; The c.38C>A and c.469A>G variants reside on the same maternally inherited allele. This combination of alelleic variants is described as c.[38C>A;469A>G]. The relative contributions of these variants to the phenotype is not entirely understood." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785343" "3" "95" "3" "33174100" "33174100" "subst" "0" "01819" "CRTAP_000032" "g.33174100C>T" "" "{PMID:Essawi 2018:29150909}, {DOI:Essawi 2018:10.1002/mgg3.331}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785344" "3" "95" "3" "33174100" "33174100" "subst" "0" "01819" "CRTAP_000032" "g.33174100C>T" "" "{PMID:Essawi 2018:29150909}, {DOI:Essawi 2018:10.1002/mgg3.331}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785345" "0" "51" "3" "33174156" "33174156" "subst" "0.370429" "00085" "CRTAP_000023" "g.33174156T>G" "" "" "" "" "" "Germline" "" "rs1135127" "0" "" "" "" "" "VUS" "" "0000785346" "0" "51" "3" "33174168" "33174168" "subst" "0.370382" "00085" "CRTAP_000024" "g.33174168G>A" "" "" "" "" "" "Germline" "" "rs1135128" "0" "" "" "" "" "VUS" "" "0000785347" "3" "99" "3" "33174170" "33174170" "subst" "0" "00085" "CRTAP_000033" "g.33174170A>G" "" "{PMID:Caparros-Martin 2016:28116328}" "" "" "The base substitution appears to create a donor splice site which will result in loss of 24 bases from the end of exon 5. This is predicted to result in the protein-level variant p.(Asp349_Pro356del)." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785348" "3" "99" "3" "33175717" "33175717" "dup" "0" "00085" "CRTAP_000035" "g.33175717dup" "" "{PMID:Caparros-Martin 2016:28116328}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785349" "0" "11" "3" "33175793" "33175793" "subst" "0.844862" "00085" "CRTAP_000031" "g.33175793C>A" "" "{PMID:Barbirato 2015:26634552}" "" "" "It has been suggested by {PMID26634552:Barbirato et al., 2015} that the homozygous c.558A>G variant alters splicing and so might be the cause of OI type IV in this proband who is homozygous for this variant. I can find no evidence that this variant has an effect on splicing." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000801158" "0" "50" "3" "33155670" "33155678" "dup" "0" "01804" "CRTAP_000050" "g.33155670_33155678dup" "" "" "" "CRTAP(NM_006371.4):c.101_109dup (p.(Arg34_Phe36dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801159" "0" "50" "3" "33174163" "33174163" "subst" "0.00198564" "01804" "CRTAP_000051" "g.33174163C>T" "" "" "" "CRTAP(NM_006371.4):c.1039C>T (p.(Leu347Phe)), CRTAP(NM_006371.5):c.1039C>T (p.L347F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850238" "0" "30" "3" "33161946" "33161946" "subst" "3.70139E-5" "01943" "CRTAP_000052" "g.33161946C>T" "" "" "" "CRTAP(NM_006371.4):c.582C>T (p.A194=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858955" "0" "10" "3" "33171525" "33171525" "subst" "0.00112094" "02329" "CRTAP_000053" "g.33171525C>T" "" "" "" "CRTAP(NM_006371.5):c.888C>T (p.T296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000868563" "1" "90" "3" "33155631" "33155646" "del" "0" "04315" "CRTAP_000054" "g.33155631_33155646del" "" "{PMID:Kuptanon 2022:35703132}, {DOI:Kuptanon 2022:10.1111/cge.14172}" "" "" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.33114139_33114154del" "{CV-SCV:001961003}" "likely pathogenic (recessive)" "ACMG" "0000868564" "2" "90" "3" "33156039" "33156039" "subst" "0" "04315" "CRTAP_000055" "g.33156039A>G" "" "{PMID:Kuptanon 2022:35703132}, {DOI:Kuptanon 2022:10.1111/cge.14172}" "" "" "ACMG PM2 ,PM3, PM5, PP3" "Germline" "" "" "0" "" "" "" "{CV-SCV:001976358}" "likely pathogenic (recessive)" "ACMG" "0000885715" "0" "90" "3" "33156042" "33156042" "subst" "8.43256E-5" "01804" "CRTAP_000010" "g.33156042C>A" "" "" "" "CRTAP(NM_006371.4):c.471+2C>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000885716" "0" "30" "3" "33156047" "33156047" "subst" "3.82721E-5" "01804" "CRTAP_000056" "g.33156047C>T" "" "" "" "CRTAP(NM_006371.4):c.471+7C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885717" "0" "30" "3" "33174118" "33174118" "subst" "0" "01804" "CRTAP_000057" "g.33174118C>G" "" "" "" "CRTAP(NM_006371.4):c.994C>G (p.(Gln332Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927582" "3" "90" "3" "33170028" "33170028" "subst" "0" "04465" "CRTAP_000058" "g.33170028A>G" "" "{PMID:Udupa 2023:37146916}" "" "" "" "Germline" "" "" "0" "" "" "g.33128536A>G" "" "pathogenic (recessive)" "" "0000962679" "0" "90" "3" "33161899" "33161899" "subst" "0" "02329" "CRTAP_000041" "g.33161899G>T" "" "" "" "CRTAP(NM_006371.5):c.535G>T (p.E179*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000962680" "0" "30" "3" "33165932" "33165932" "subst" "0.000227404" "02329" "CRTAP_000059" "g.33165932C>T" "" "" "" "CRTAP(NM_006371.5):c.654C>T (p.N218=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993581" "0" "50" "3" "33155657" "33155657" "subst" "0.000192535" "01804" "CRTAP_000060" "g.33155657C>A" "" "" "" "CRTAP(NM_006371.4):c.88C>A (p.(Arg30Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993582" "0" "50" "3" "33166057" "33166057" "subst" "1.21826E-5" "01804" "CRTAP_000061" "g.33166057A>G" "" "" "" "CRTAP(NM_006371.4):c.779A>G (p.(Tyr260Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013860" "0" "30" "3" "33161847" "33161847" "subst" "0" "02329" "CRTAP_000062" "g.33161847C>G" "" "" "" "CRTAP(NM_006371.5):c.483C>G (p.L161=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024765" "0" "50" "3" "33161947" "33161947" "subst" "9.05581E-5" "02325" "CRTAP_000063" "g.33161947G>A" "" "" "" "CRTAP(NM_006371.5):c.583G>A (p.E195K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024766" "0" "30" "3" "33174163" "33174163" "subst" "0.00198564" "02325" "CRTAP_000051" "g.33174163C>T" "" "" "" "CRTAP(NM_006371.4):c.1039C>T (p.(Leu347Phe)), CRTAP(NM_006371.5):c.1039C>T (p.L347F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033907" "0" "50" "3" "33156020" "33156020" "subst" "0.000526737" "01804" "CRTAP_000064" "g.33156020C>G" "" "" "" "CRTAP(NM_006371.5):c.451C>G (p.(Leu151Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001047618" "0" "90" "3" "33156042" "33156042" "subst" "8.43256E-5" "03779" "CRTAP_000010" "g.33156042C>A" "" "" "" "" "" "Unknown" "" "rs137853943" "0" "" "" "" "" "pathogenic" "" "0001048324" "3" "50" "3" "33156029" "33156029" "subst" "0" "00006" "CRTAP_000065" "g.33156029G>C" "" "{PMID:Tuysuz 2022:34902613}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.33114537G>C" "" "VUS" "" "0001051250" "0" "70" "3" "33155767" "33155767" "subst" "0" "01804" "CRTAP_000014" "g.33155767C>A" "" "" "" "CRTAP(NM_006371.5):c.198C>A (p.(Tyr66*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" ## 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 CRTAP ## Count = 86 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000130212" "00005701" "70" "160" "0" "167" "0" "c.160_167del" "r.(?)" "p.(Lys54Argfs*104)" "" "0000250089" "00005701" "10" "558" "0" "558" "0" "c.558A>G" "r.(?)" "p.(Ala186=)" "" "0000267128" "00005701" "10" "1032" "0" "1032" "0" "c.1032T>G" "r.(?)" "p.(Thr344=)" "" "0000267129" "00005701" "10" "213" "0" "213" "0" "c.213G>A" "r.(?)" "p.(Leu71=)" "" "0000267130" "00005701" "10" "534" "0" "534" "0" "c.534C>T" "r.(?)" "p.(Asp178=)" "" "0000267131" "00005701" "90" "535" "0" "535" "0" "c.535G>T" "r.(?)" "p.(Glu179Ter)" "" "0000268577" "00005701" "10" "1032" "0" "1032" "0" "c.1032T>G" "r.(?)" "p.(Thr344=)" "" "0000268578" "00005701" "70" "200" "0" "200" "0" "c.200T>C" "r.(?)" "p.(Leu67Pro)" "" "0000268579" "00005701" "90" "21" "0" "22" "0" "c.21_22dup" "r.(?)" "p.(Ala8GlyfsTer6)" "1" "0000268580" "00005701" "10" "213" "0" "213" "0" "c.213G>A" "r.(?)" "p.(Leu71=)" "" "0000268581" "00005701" "10" "534" "0" "534" "0" "c.534C>T" "r.(?)" "p.(Asp178=)" "" "0000268582" "00005701" "30" "622" "-16" "622" "-16" "c.622-16T>C" "r.(=)" "p.(=)" "" "0000268583" "00005701" "30" "732" "0" "732" "0" "c.732C>T" "r.(?)" "p.(Leu244=)" "" "0000354937" "00005701" "90" "118" "0" "118" "0" "c.118G>T" "r.(?)" "p.(Glu40*)" "1" "0000519047" "00005701" "90" "21" "0" "22" "0" "c.21_22dup" "r.(?)" "p.(Ala8GlyfsTer6)" "" "0000519048" "00005701" "30" "641" "0" "641" "0" "c.641T>C" "r.(?)" "p.(Val214Ala)" "" "0000519049" "00005701" "10" "641" "0" "641" "0" "c.641T>C" "r.(?)" "p.(Val214Ala)" "" "0000519050" "00005701" "10" "1044" "0" "1044" "0" "c.1044G>A" "r.(?)" "p.(Ser348=)" "" "0000519051" "00005701" "10" "1044" "0" "1044" "0" "c.1044G>A" "r.(?)" "p.(Ser348=)" "" "0000519052" "00005701" "30" "1153" "-8" "1153" "-8" "c.1153-8T>C" "r.(=)" "p.(=)" "" "0000689025" "00005701" "90" "731" "0" "732" "0" "c.731_732del" "r.(?)" "p.(Leu244ArgfsTer34)" "" "0000712625" "00005701" "70" "986" "0" "986" "0" "c.986del" "r.(?)" "p.(Lys329Argfs*36)" "" "0000719350" "00005701" "50" "724" "0" "724" "0" "c.724G>A" "r.(?)" "p.(Glu242Lys)" "" "0000729888" "00005701" "90" "826" "0" "826" "0" "c.826C>T" "r.(?)" "p.(Gln276*)" "" "0000729889" "00005701" "90" "561" "0" "561" "0" "c.561T>G" "r.(?)" "p.(Tyr187*)" "" "0000785310" "00005701" "99" "-1677" "0" "471" "1592" "c.-1677_471+1592del" "r.0?" "p.0?" "_1_1i" "0000785311" "00005701" "99" "3" "0" "3" "0" "c.3G>A" "r.(?)" "p.(Met1?)" "1" "0000785312" "00005701" "99" "21" "0" "22" "0" "c.21_22dup" "r.(?)" "p.(Ala8Glyfs*6)" "1" "0000785313" "00005701" "99" "22" "0" "22" "0" "c.22dup" "r.(?)" "p.(Ala8Glyfs*153)" "1" "0000785314" "00005701" "99" "24" "0" "31" "0" "c.24_31del" "r.(?)" "p.(Ala10Serfs*148)" "1" "0000785315" "00005701" "55" "38" "0" "38" "0" "c.38C>A" "r.(?)" "p.(Ala13Glu)" "1" "0000785316" "00005701" "99" "118" "0" "133" "0" "c.118_133delinsTACCC" "r.(?)" "p.(Glu40Tyrfs*117)" "1" "0000785317" "00005701" "99" "133" "0" "133" "0" "c.133G>T" "r.(?)" "p.(Glu45*)" "1" "0000785318" "00005701" "99" "198" "0" "198" "0" "c.198C>A" "r.(?)" "p.(Tyr66*)" "1" "0000785319" "00005701" "99" "200" "0" "200" "0" "c.200T>C" "r.(?)" "p.(Leu67Pro)" "1" "0000785320" "00005701" "99" "202" "0" "202" "0" "c.202G>T" "r.(?)" "p.(Glu68*)" "1" "0000785321" "00005701" "99" "278" "0" "293" "0" "c.278_293dup" "r.(?)" "p.(Gly99Alafs*67)" "1" "0000785322" "00005701" "99" "278" "0" "293" "0" "c.278_293dup" "r.(?)" "p.(Gly99Alafs*67)" "1" "0000785323" "00005701" "99" "404" "0" "404" "0" "c.404del" "r.(?)" "p.Ser135Thrfs*39" "1" "0000785324" "00005701" "99" "452" "0" "452" "0" "c.452T>C" "r.(?)" "p.(Leu151Pro)" "1" "0000785325" "00005701" "55" "469" "0" "469" "0" "c.469A>G" "r.(?)" "p.(Lys157Glu)" "1" "0000785326" "00005701" "99" "471" "1" "471" "1" "c.471+1G>C" "r.spl" "p.?" "1i" "0000785327" "00005701" "99" "471" "2" "471" "2" "c.471+2C>A" "r.spl" "p.?" "1i" "0000785328" "00005701" "99" "471" "2" "471" "2" "c.471+2C>A" "r.spl" "p.?" "1i" "0000785329" "00005701" "99" "471" "2" "471" "2" "c.471+2C>A" "r.spl" "p.?" "1i" "0000785330" "00005701" "99" "471" "2" "471" "2" "c.471+2C>A" "r.spl" "p.?" "1i" "0000785331" "00005701" "99" "471" "4" "471" "4" "c.471+4del" "r.spl" "p.?" "1i" "0000785332" "00005701" "99" "472" "-1021" "472" "-1021" "c.472-1021C>G" "r.spl" "p.?" "1i" "0000785333" "00005701" "11" "534" "0" "534" "0" "c.534C>T" "r.(?)" "p.(Asp174=)" "2" "0000785334" "00005701" "71" "558" "0" "558" "0" "c.558A>G" "r.(?)" "p.(Ala186=)" "2" "0000785335" "00005701" "99" "561" "0" "561" "0" "c.561T>G" "r.(?)" "p.(Tyr187*)" "2" "0000785336" "00005701" "99" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212*)" "3" "0000785337" "00005701" "99" "804" "0" "809" "0" "c.804_809del" "r.(?)" "p.Glu269_Val270del" "4" "0000785338" "00005701" "99" "822" "0" "826" "0" "c.822_826delinsT" "r.(?)" "p.(Lys274Asnfs*11)" "4" "0000785339" "00005701" "99" "826" "0" "826" "0" "c.826C>T" "r.(?)" "p.(Gln276*)" "4" "0000785340" "00005701" "99" "826" "0" "826" "0" "c.826C>T" "r.(?)" "p.(Gln276*)" "4" "0000785341" "00005701" "99" "879" "0" "879" "0" "c.879del" "r.(?)" "p.Phe293Leufs*16" "4" "0000785342" "00005701" "99" "923" "-2" "923" "-2" "c.923-2A>G" "r.spl" "p.?" "4i" "0000785343" "00005701" "95" "976" "0" "976" "0" "c.976C>T" "r.(?)" "p.(Gln326*)" "5" "0000785344" "00005701" "95" "976" "0" "976" "0" "c.976C>T" "r.(?)" "p.(Gln326*)" "5" "0000785345" "00005701" "51" "1032" "0" "1032" "0" "c.1032T>G" "r.(?)" "p.(=)" "5" "0000785346" "00005701" "51" "1044" "0" "1044" "0" "c.1044G>A" "r.(?)" "p.(=)" "5" "0000785347" "00005701" "99" "1046" "0" "1046" "0" "c.1046A>G" "r.(?)" "p.(Asp349_Pro356del)" "5" "0000785348" "00005701" "99" "1112" "0" "1112" "0" "c.1112dup" "r.(?)" "p.(Tyr372Valfs*2)" "6" "0000785349" "00005701" "11" "1152" "36" "1152" "36" "c.1152+36C>A" "r.(?)" "p.(=)" "6i" "0000801158" "00005701" "50" "101" "0" "109" "0" "c.101_109dup" "r.(?)" "p.(Arg34_Phe36dup)" "" "0000801159" "00005701" "50" "1039" "0" "1039" "0" "c.1039C>T" "r.(?)" "p.(Leu347Phe)" "" "0000850238" "00005701" "30" "582" "0" "582" "0" "c.582C>T" "r.(?)" "p.(Ala194=)" "" "0000858955" "00005701" "10" "888" "0" "888" "0" "c.888C>T" "r.(?)" "p.(Thr296=)" "" "0000868563" "00005701" "90" "62" "0" "77" "0" "c.62_77del" "r.(?)" "p.(Leu21Profs*16)" "" "0000868564" "00005701" "90" "470" "0" "470" "0" "c.470A>G" "r.(?)" "p.(Lys157Arg)" "" "0000885715" "00005701" "90" "471" "2" "471" "2" "c.471+2C>A" "r.spl?" "p.?" "" "0000885716" "00005701" "30" "471" "7" "471" "7" "c.471+7C>T" "r.(=)" "p.(=)" "" "0000885717" "00005701" "30" "994" "0" "994" "0" "c.994C>G" "r.(?)" "p.(Gln332Glu)" "" "0000927582" "00005701" "90" "794" "-1403" "794" "-1403" "c.794-1403A>G" "r.[793_794ins794-1472_794-1404,(793_794ins[793+1_793+7;794-1472_794-1404]]" "p.?" "" "0000962679" "00005701" "90" "535" "0" "535" "0" "c.535G>T" "r.(?)" "p.(Glu179Ter)" "" "0000962680" "00005701" "30" "654" "0" "654" "0" "c.654C>T" "r.(?)" "p.(=)" "" "0000993581" "00005701" "50" "88" "0" "88" "0" "c.88C>A" "r.(?)" "p.(Arg30Ser)" "" "0000993582" "00005701" "50" "779" "0" "779" "0" "c.779A>G" "r.(?)" "p.(Tyr260Cys)" "" "0001013860" "00005701" "30" "483" "0" "483" "0" "c.483C>G" "r.(?)" "p.(=)" "" "0001024765" "00005701" "50" "583" "0" "583" "0" "c.583G>A" "r.(?)" "p.(Glu195Lys)" "" "0001024766" "00005701" "30" "1039" "0" "1039" "0" "c.1039C>T" "r.(?)" "p.(Leu347Phe)" "" "0001033907" "00005701" "50" "451" "0" "451" "0" "c.451C>G" "r.(?)" "p.(Leu151Val)" "" "0001047618" "00005701" "90" "471" "2" "471" "2" "c.471+2C>A" "r.(?)" "p.(?)" "" "0001048324" "00005701" "50" "460" "0" "460" "0" "c.460G>C" "r.(?)" "p.(Ala154Pro)" "" "0001051250" "00005701" "70" "198" "0" "198" "0" "c.198C>A" "r.(?)" "p.(Tyr66*)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 49 "{{screeningid}}" "{{variantid}}" "0000081126" "0000130212" "0000155266" "0000354937" "0000328666" "0000712625" "0000332606" "0000729888" "0000332607" "0000729889" "0000374529" "0000785310" "0000374530" "0000785311" "0000374530" "0000785322" "0000374531" "0000785312" "0000374532" "0000785313" "0000374533" "0000785314" "0000374534" "0000785315" "0000374534" "0000785325" "0000374534" "0000785342" "0000374535" "0000785316" "0000374536" "0000785317" "0000374537" "0000785318" "0000374537" "0000785328" "0000374538" "0000785319" "0000374539" "0000785320" "0000374539" "0000785331" "0000374540" "0000785321" "0000374540" "0000785338" "0000374541" "0000785323" "0000374542" "0000785324" "0000374543" "0000785326" "0000374544" "0000785327" "0000374545" "0000785329" "0000374546" "0000785330" "0000374547" "0000785332" "0000374548" "0000785333" "0000374548" "0000785334" "0000374548" "0000785349" "0000374549" "0000785335" "0000374550" "0000785336" "0000374550" "0000785340" "0000374551" "0000785337" "0000374552" "0000785339" "0000374553" "0000785341" "0000374554" "0000785343" "0000374555" "0000785344" "0000374556" "0000785345" "0000374557" "0000785346" "0000374558" "0000785347" "0000374559" "0000785348" "0000411442" "0000868563" "0000411442" "0000868564" "0000436564" "0000927582" "0000468490" "0001048324"