### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KLHL7) # 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}}" "KLHL7" "kelch-like family member 7" "7" "p15.3" "unknown" "NG_016983.1" "UD_132118602475" "" "https://www.LOVD.nl/KLHL7" "" "1" "15646" "55975" "611119" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/KLHL7_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2012-07-16 00:00:00" "00006" "2017-11-13 07:19:58" "00006" "2025-04-07 13:47:05" ## 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}}" "00025244" "KLHL7" "transcript variant 1" "002" "NM_001031710.2" "" "NP_001026880.2" "" "" "" "-293" "2884" "1761" "23145353" "23215040" "00006" "2017-11-13 07:33:25" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00112" "RP" "retinitis pigmentosa (RP)" "" "268000" "" "" "" "00001" "2013-02-21 17:12:36" "00006" "2021-01-18 09:53:26" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00432" "CISS" "sweating syndrome, cold-induced (CISS, Crisponi Syndrome)" "AR" "272430" "" "" "" "00006" "2014-06-22 20:58:35" "00006" "2021-12-10 21:51:32" "03215" "RP42" "retinitis pigmentosa, type 42 (RP42)" "AD" "612943" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "06737" "PERCHING" "PERCHING syndrome" "AR" "617055" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "KLHL7" "03215" "KLHL7" "06737" ## Individuals ## Do not remove or alter this header ## ## Count = 82 "{{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}}" "00050382" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00078698" "" "" "" "1" "" "01604" "{PMID:Angius 2016:27392078}, {DOI:Angius 2016:10.1016/j.ajhg.2016.05.026}" "2-generation family, unaffected heterozygous carrier parents" "F" "yes" "Turkey" "00y21m" "0" "" "" "Turkish" "27392078-FamPatCS_144" "00078699" "" "" "" "1" "" "01604" "{PMID:Angius 2016:27392078}, {DOI:Angius 2016:10.1016/j.ajhg.2016.05.026}" "2-generation family, unaffected heterozygous carrier parents" "F" "yes" "Turkey" ">06y" "0" "" "" "Turkish" "27392078-FamPatCS_258" "00078700" "" "" "" "1" "" "01604" "{PMID:Angius 2016:27392078}, {DOI:Angius 2016:10.1016/j.ajhg.2016.05.026}" "2-generation family, unaffected heterozygous carrier parents" "F" "yes" "Turkey" "02y" "0" "" "" "Turkish" "27392078-PanPatCS_259" "00078701" "" "" "" "1" "" "01604" "{PMID:Angius 2016:27392078}, {DOI:Angius 2016:10.1016/j.ajhg.2016.05.026}" "2-generation family, unaffected heterozygous carrier parents" "M" "yes" "Turkey" ">04y" "0" "" "" "Turkish" "27392078-FamGPatCS_260" "00078702" "" "" "" "1" "" "01604" "{PMID:Angius 2016:27392078}, {DOI:Angius 2016:10.1016/j.ajhg.2016.05.026}" "2-generation family, unaffected heterozygous carrier parents" "M" "yes" "Turkey" "00y07m" "0" "" "" "Turkish" "27392078-FamPatCS_169" "00232842" "" "" "" "6" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00294416" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00308518" "" "" "" "2" "" "00004" "{PMID:Holtan 2020:31429209}" "2 patients with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" "" "00309213" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00328032" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Asia-South" "G001365" "00328116" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G005238" "00328337" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "W000372" "00333504" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "38" "00333505" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "39" "00333586" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "295" "00333587" "" "" "" "2" "" "00000" "{PMID:Stone 2017:28559085}" "family, 2 affected" "F" "" "(United States)" "" "0" "" "" "" "296" "00372082" "" "" "" "1" "" "00000" "{PMID:Yoon 2015:26155838}" "family" "" "" "Korea" "" "0" "" "" "" "F10" "00376810" "" "" "" "1" "" "00000" "{PMID:Daiger 2014:24664689}" "" "" "" "United States" "" "0" "" "" "" "VCH010" "00376816" "" "" "" "1" "" "00000" "{PMID:Daiger 2014:24664689}" "" "" "" "United States" "" "0" "" "" "" "RFS038" "00377719" "" "" "" "1" "" "00000" "{PMID:Bowne 2011:20861475}" "" "" "no" "" "" "0" "" "" "white" "" "00379652" "" "" "" "1" "" "03508" "" "" "F" "" "Korea, South (Republic)" "" "" "" "" "" "IR_GH_0034" "00379656" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "" "" "" "" "IR_GS_0039" "00381781" "" "" "" "1" "" "00000" "{PMID:Sullivan-2013:23950152}" "" "" "no" "" "" "0" "" "" "" "" "00386560" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "001-427" "00386976" "" "" "" "1" "" "00000" "{PMID:Jauregui 2020:32098976}" "" "F" "" "(United States)" "" "0" "" "" "white" "2" "00386977" "" "" "" "1" "" "00000" "{PMID:Jauregui 2020:32098976}" "" "F" "" "(United States)" "" "0" "" "" "Asian" "3" "00386978" "" "" "" "1" "" "00000" "{PMID:Jauregui 2020:32098976}" "" "M" "" "(United States)" "" "0" "" "" "Other" "4" "00389173" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 148, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "457" "00389606" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 372, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "890" "00390294" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G001365" "00390295" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G005238" "00390296" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "W000372" "00394480" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "F" "no" "" "" "0" "" "" "" "" "00394605" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "F" "no" "" "" "0" "" "" "" "" "00426703" "" "" "" "23" "" "00000" "{PMID:Friedman 2009:19520207}" "" "" "" "" "" "0" "" "" "Scandinavian" "" "00426704" "" "" "" "2" "" "00000" "{PMID:Friedman 2009:19520207}" "" "" "" "" "" "0" "" "" "North American" "" "00426705" "" "" "" "11" "" "00000" "{PMID:Hugosson-2010:20547956}, {PMID:Friedman 2009:19520207}" "" "" "" "" "" "0" "" "" "Scandinavian" "" "00426706" "" "" "" "1" "" "00000" "{PMID:Friedman 2009:19520207}" "" "" "" "" "" "0" "" "" "UK" "" "00426707" "" "" "" "3" "" "00000" "{PMID:Friedman 2009:19520207}" "" "" "" "" "" "0" "" "" "North American" "" "00426708" "" "" "" "1" "" "00000" "{PMID:Friedman 2009:19520207}" "" "" "" "" "" "0" "" "" "North American" "" "00426709" "" "" "" "1" "" "00000" "{PMID:Friedman 2009:19520207}" "" "" "" "United States" "" "0" "" "" "North American" "" "00426710" "" "" "" "1" "" "00000" "{PMID:Friedman 2009:19520207}" "" "" "" "United States" "" "0" "" "" "North American" "" "00426711" "" "" "" "1" "" "00000" "{PMID:Friedman 2009:19520207}" "" "" "" "United States" "" "0" "" "" "North American" "" "00426712" "" "" "" "1" "" "00000" "{PMID:Friedman 2009:19520207}" "" "" "" "United Kingdom (Great Britain);United States" "" "0" "" "" "" "" "00426713" "" "" "" "1" "" "00000" "{PMID:Friedman 2009:19520207}" "" "" "" "United States" "" "0" "" "" "North American" "" "00426714" "" "" "" "1" "" "00000" "{PMID:Friedman 2009:19520207}" "" "" "" "United States" "" "0" "" "" "North American" "" "00426715" "" "" "" "1" "" "00000" "{PMID:Friedman 2009:19520207}" "" "" "" "United States" "" "0" "" "" "North American" "" "00426716" "" "" "" "1" "" "00000" "{PMID:Friedman 2009:19520207}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00426717" "" "" "" "1" "" "00000" "{PMID:Friedman 2009:19520207}" "" "" "" "United States" "" "0" "" "" "North American" "" "00426718" "" "" "" "1" "" "00000" "{PMID:Friedman 2009:19520207}" "" "" "" "United States" "" "0" "" "" "North American" "" "00426719" "" "" "" "1" "" "00000" "{PMID:Friedman 2009:19520207}" "" "" "" "United States" "" "0" "" "" "North American" "" "00426720" "" "" "" "1" "" "00000" "{PMID:Friedman 2009:19520207}" "" "" "" "United States" "" "0" "" "" "North American" "" "00426721" "" "" "" "1" "" "00000" "{PMID:Friedman 2009:19520207}" "" "" "" "United Kingdom (Great Britain);United States" "" "0" "" "" "" "" "00426722" "" "" "" "1" "" "00000" "{PMID:Friedman 2009:19520207}" "" "" "" "United States" "" "0" "" "" "North American" "" "00426723" "" "" "" "1" "" "00000" "{PMID:Friedman 2009:19520207}" "" "" "" "United States" "" "0" "" "" "North American" "" "00426724" "" "" "" "1" "" "00000" "{PMID:Friedman 2009:19520207}" "" "" "" "United States" "" "0" "" "" "North American" "" "00426725" "" "" "" "2" "" "00000" "{PMID:Friedman 2009:19520207}" "" "" "" "United States" "" "0" "" "" "North American" "" "00426726" "" "" "" "1" "" "00000" "{PMID:Friedman 2009:19520207}" "" "" "" "United States" "" "0" "" "" "North American" "" "00426727" "" "" "" "1" "" "00000" "{PMID:Bruel 2017:29074562}" "" "F" "no" "Syria" "" "0" "" "" "" "" "00426728" "" "" "" "1" "" "00000" "{PMID:Bruel 2017:29074562}" "" "M" "no" "Syria" "" "0" "" "" "" "" "00426729" "" "" "" "1" "" "00000" "{PMID:Bruel 2017:29074562}" "" "M" "no" "Italy" "" "0" "" "" "" "" "00426730" "" "" "" "1" "" "00000" "{PMID:Bruel 2017:29074562}, {PMID:Heng 2019:30997404}" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00426731" "" "" "" "1" "" "00000" "{PMID:Bruel 2017:29074562}, {PMID:Heng 2019:30997404}" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00426732" "" "" "" "1" "" "00000" "{PMID:Bruel 2017:29074562}" "" "M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00426733" "" "" "" "1" "" "00000" "{PMID:Kanthi-2019:30142437}" "" "M" "yes" "" "" "0" "" "" "" "" "00426734" "" "" "" "1" "" "00000" "{PMID:Oh 2019:31856884}" "" "F" "" "" "" "0" "" "" "Irish" "P2" "00426735" "" "" "" "1" "" "00000" "{PMID:Oh 2019:31856884}" "" "F" "" "" "" "0" "" "" "Korean" "P3" "00426736" "" "" "" "1" "" "00000" "{PMID:Oh 2019:31856884}" "" "F" "" "" "" "0" "" "" "Caucasian(unspecified)" "P4" "00426737" "" "" "" "1" "" "00000" "{PMID:Oh 2019:31856884}" "" "F" "" "" "" "0" "" "" "Irish" "P5" "00426738" "" "" "" "1" "" "00000" "{PMID:Cheraghi-2020:31953236}" "" "F" "no" "Iran" "" "0" "" "" "Iranian" "Patient II:1" "00426739" "" "" "" "1" "" "00000" "{PMID:Cheraghi-2020:31953236}" "" "F" "no" "Iran" "" "0" "" "" "Iranian" "Patient II:2" "00429492" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" "" "00429532" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" "" "00429536" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" "" "00429910" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" "" "00440442" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED1065.1" "00446960" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "F" "" "Germany" "" "0" "" "" "" "ADRP--518-1" "00446961" "" "" "00446960" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "relative" "M" "" "Germany" "" "0" "" "" "" "ADRP--518-2" "00447166" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "MDS-418" "00447585" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "SRP-391" "00461133" "" "" "" "1" "" "00006" "{PMID:Midgley 2024:39676705}" "" "M" "" "South Africa" "" "0" "" "" "Africa-indigenous" "Pat68" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 82 "{{individualid}}" "{{diseaseid}}" "00050382" "00198" "00078698" "00432" "00078699" "00432" "00078700" "00432" "00078701" "00432" "00078702" "00432" "00232842" "04214" "00294416" "00198" "00308518" "04214" "00309213" "04214" "00328032" "04214" "00328116" "04214" "00328337" "04214" "00333504" "04214" "00333505" "04214" "00333586" "04214" "00333587" "04214" "00372082" "04214" "00376810" "04214" "00376816" "04214" "00377719" "04214" "00379652" "00112" "00379656" "00112" "00381781" "04214" "00386560" "04214" "00386976" "04214" "00386977" "04214" "00386978" "04214" "00389173" "04214" "00389606" "04214" "00390294" "04214" "00390295" "04214" "00390296" "04214" "00394480" "04214" "00394605" "04214" "00426703" "04214" "00426704" "04214" "00426705" "04214" "00426706" "04214" "00426707" "04214" "00426708" "04214" "00426709" "04214" "00426710" "04214" "00426711" "04214" "00426712" "04214" "00426713" "04214" "00426714" "04214" "00426715" "04214" "00426716" "04214" "00426717" "04214" "00426718" "04214" "00426719" "04214" "00426720" "04214" "00426721" "04214" "00426722" "04214" "00426723" "04214" "00426724" "04214" "00426725" "04214" "00426726" "04214" "00426727" "04214" "00426728" "04214" "00426729" "04214" "00426730" "04214" "00426731" "04214" "00426732" "04214" "00426733" "04214" "00426734" "04214" "00426735" "04214" "00426736" "04214" "00426737" "04214" "00426738" "04214" "00426739" "04214" "00429492" "00112" "00429532" "00112" "00429536" "00112" "00429910" "00112" "00440442" "00198" "00446960" "00198" "00446961" "00198" "00447166" "00198" "00447585" "00198" "00461133" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00112, 00198, 00432, 03215, 04214, 06737 ## Count = 80 "{{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}}" "0000036994" "00198" "00050382" "00006" "Isolated (sporadic)" "" "intrauterine growth retardation, proportionate short stature, clinodactyly of the 5th finger, webbed neck, epicanthus, intellectual disability mild" "" "" "" "" "" "" "" "" "" "" "" "0000058466" "00432" "00078698" "01604" "Familial, autosomal recessive" "" "hyperthermia (HP:0001945), contraction of oropharyngeal muscles (HP:?), feeding difficulties (HP:0011968), camptodactyly (HP:0012385), no retinitis pigmentosa (-HP:0000510), no cyanosis (-HP:0000961), swallowing difficulties (HP:0002015), no full cheeks (-HP:0000293), highly arched palate (HP:0002705), depressed nasal bridge (HP:0005280), no cold-induced sweating (-HP:?), no scoliosis (-HP:0002650), joint contractures (HP:0001371),; feeding problems (HP:0011968); flat nasal bridge (HP:0005280); no scoliosis (-HP:0002650); camptodactyly (HP:0012385); full cheeks (HP:0000293); large joints (HP:0005781); no cyanosis (-HP:0000961); episodic fever (HP:0001954); high palate (HP:0000218); poor swallowing (HP:0002015); no cold induced sweating (-HP:0025278)" "" "00y07m" "" "" "" "" "" "" "" "" "" "0000058467" "00432" "00078699" "01604" "Familial, autosomal recessive" "" "hyperthermia (HP:0001945), contraction of oropharyngeal muscles (HP:?), feeding difficulties (HP:0011968), camptodactyly (HP:0012385), retinitis pigmentosa (HP:0000510), no cyanosis (-HP:0000961), swallowing difficulties (HP:0002015), full cheeks (HP:0000293), foot anomalies (HP:?), highly arched palate (HP:0002705), depressed nasal bridge (HP:0005280), cold-induced sweating (HP:?), no scoliosis (-HP:0002650), joint contractures (HP:0001371), no psychomotor retardation (-HP:0001263); feeding problems (HP:0011968); flat nasal bridge (HP:0005280); no scoliosis (-HP:0002650); camptodactyly (HP:0012385); full cheeks (HP:0000293); large joints (HP:0005781); no cyanosis (-HP:0000961); episodic fever (HP:0001954); foot abnormality (HP:0001760); high palate (HP:0000218); poor swallowing (HP:0002015); cold induced sweating (HP:0025278)" "" "04y" "" "" "" "" "" "" "" "" "" "0000058468" "00432" "00078700" "01604" "Familial, autosomal recessive" "" "contraction of oropharyngeal muscles (HP:?), feeding difficulties (HP:0011968), camptodactyly (HP:0012385), cyanosis (HP:0000961), swallowing difficulties (HP:0002015), full cheeks (HP:0000293), no foot anomalies (-HP:?), highly arched palate (HP:0002705), depressed nasal bridge (HP:0005280), no cold-induced sweating (-HP:?), no scoliosis (-HP:0002650), joint contractures (HP:0001371), no psychomotor retardation (-HP:0001263); feeding problems (HP:0011968); flat nasal bridge (HP:0005280); no scoliosis (-HP:0002650); camptodactyly (HP:0012385); full cheeks (HP:0000293); large joints (HP:0005781); cyanosis (HP:0000961); high palate (HP:0000218); poor swallowing (HP:0002015); no cold induced sweating (-HP:0025278)" "" "00y06m" "" "" "" "" "" "" "" "" "" "0000058469" "00432" "00078701" "01604" "Familial, autosomal recessive" "" "hyperthermia (HP:0001945), contraction of oropharyngeal muscles (HP:?), feeding difficulties (HP:0011968), camptodactyly (HP:0012385), retinitis pigmentosa (HP:0000510), no cyanosis (-HP:0000961), swallowing difficulties (HP:0002015), full cheeks (HP:0000293), depressed nasal bridge (HP:0005280), no cold-induced sweating (-HP:?); feeding problems (HP:0011968); flat nasal bridge (HP:0005280); camptodactyly (HP:0012385); full cheeks (HP:0000293); no cyanosis (-HP:0000961); episodic fever (HP:0001954); poor swallowing (HP:0002015); no cold induced sweating (-HP:0025278)" "" "00y11m" "" "" "" "" "" "" "" "" "" "0000058470" "00432" "00078702" "01604" "Familial, autosomal recessive" "" "no hyperthermia (-HP:0001945), contraction of oropharyngeal muscles (HP:?), feeding difficulties (HP:0011968), camptodactyly (HP:0012385), no cyanosis (-HP:0000961), swallowing difficulties (HP:0002015), full cheeks (HP:0000293), foot anomalies (HP:?), highly arched palate (HP:0002705), depressed nasal bridge (HP:0005280), no cold-induced sweating (-HP:?), no scoliosis (-HP:0002650), no joint contractures (-HP:0001371), psychomotor retardation (HP:0001263); feeding problems (HP:0011968); flat nasal bridge (HP:0005280); no scoliosis (-HP:0002650); camptodactyly (HP:0012385); full cheeks (HP:0000293); no cyanosis (-HP:0000961); no episodic fever (-HP:0001954); foot abnormality (HP:0001760); high palate (HP:0000218); poor swallowing (HP:0002015); no cold induced sweating (-HP:0025278)" "" "00y05m15d" "" "" "" "" "" "" "" "" "" "0000233946" "04214" "00308518" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000234533" "04214" "00309213" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246259" "04214" "00328032" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246343" "04214" "00328116" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246564" "04214" "00328337" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251688" "04214" "00333504" "00000" "Familial, autosomal dominant" "52y" "clinical category IA1a" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251689" "04214" "00333505" "00000" "Familial, autosomal dominant" "72y" "clinical category IA1a" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251770" "04214" "00333586" "00000" "Familial, autosomal dominant" "57y" "clinical category IA1aiv" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251771" "04214" "00333587" "00000" "Familial, autosomal dominant" "43y" "clinical category IA1aiv" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267411" "04214" "00372082" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000272020" "04214" "00376810" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000272026" "04214" "00376816" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000272870" "04214" "00377719" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Autosomal Dominant Retinitis Pigmentosa" "" "0000273496" "00112" "00379652" "03508" "Familial, autosomal dominant" "" "HP:0032037\tHP:0000662\tHP:0000613,\tHP:0001133,\tHP:0000006,\tHP:0007795,\tHP:0000510" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000273500" "00112" "00379656" "03508" "Familial, autosomal dominant" "" "HP:0032037,\tHP:0000662,\tHP:0001133,\tHP:0000006,\tHP:0000510" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000275623" "04214" "00381781" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000280360" "04214" "00386560" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280754" "04214" "00386976" "00000" "Familial, autosomal dominant" "36y" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa, autosomal dominant" "" "" "0000280755" "04214" "00386977" "00000" "Familial, autosomal dominant" "38y" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa, autosomal dominant" "" "" "0000280756" "04214" "00386978" "00000" "Familial, autosomal dominant" "67y" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa, autosomal dominant" "" "" "0000282714" "04214" "00389173" "00000" "Isolated (sporadic)" "65y" "age at genetic diagnosis mentioned" "" "62y" "" "" "" "" "" "" "sporadic retinitis pigmentosa" "" "" "0000283147" "04214" "00389606" "00000" "Familial, autosomal dominant" "50y" "age at genetic diagnosis mentioned" "" "45y" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa" "" "" "0000283832" "04214" "00390294" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283833" "04214" "00390295" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283834" "04214" "00390296" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000287683" "04214" "00394480" "00000" "Familial, autosomal dominant" "34y" "" "28y" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000287808" "04214" "00394605" "00000" "Familial, autosomal recessive" "65y" "" "20y" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000317857" "04214" "00426703" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (arRP)" "" "0000317858" "04214" "00426704" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (arRP)" "" "0000317859" "04214" "00426705" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (arRP)" "" "0000317860" "04214" "00426706" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (arRP)" "" "0000317861" "04214" "00426707" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (arRP)" "" "0000317862" "04214" "00426708" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (arRP)" "" "0000317863" "04214" "00426709" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinopathy" "" "0000317864" "04214" "00426710" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinopathy" "" "0000317865" "04214" "00426711" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (arRP)" "" "0000317866" "04214" "00426712" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (arRP)" "" "0000317867" "04214" "00426713" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinopathy" "" "0000317868" "04214" "00426714" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinopathy" "" "0000317869" "04214" "00426715" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (arRP)" "" "0000317870" "04214" "00426716" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (arRP)" "" "0000317871" "04214" "00426717" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (arRP)" "" "0000317872" "04214" "00426718" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (arRP)" "" "0000317873" "04214" "00426719" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (arRP)" "" "0000317874" "04214" "00426720" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (arRP)" "" "0000317875" "04214" "00426721" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (arRP)" "" "0000317876" "04214" "00426722" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinopathy" "" "0000317877" "04214" "00426723" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinopathy" "" "0000317878" "04214" "00426724" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000317879" "04214" "00426725" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000317880" "04214" "00426726" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000317881" "04214" "00426727" "00000" "Familial, autosomal recessive" "" "microcephaly, exophthalmos, nevus flammeus of the glabella, expressionless face, anteverted nares, hypertelorism, micrognathia and low-set ears; limb contractures, persistent flexion of the elbows, axial hypotonia and segmental hypertonia; non-specific seizures and had profound global developmental delay" "" "" "" "" "" "" "" "" "" "Bohring-Opitz syndrome (BOS)" "" "0000317882" "04214" "00426728" "00000" "Familial, autosomal recessive" "" "microcephaly, exophthalmos, nevus flammeus of the glabella, expressionless face, anteverted nares, hypertelorism, micrognathia and low-set ears; limb contractures, persistent flexion of the elbows, axial hypotonia and segmental hypertonia; non-specific seizures and had profound global developmental delay; ostium secundum atrial septal defect" "" "" "" "" "" "" "" "" "" "Bohring-Opitz syndrome (BOS)" "" "0000317883" "04214" "00426729" "00000" "Familial, autosomal recessive" "" "hypertelorism, exophthalmos and frontal nevus flammeus; bilateral camptodactyly of the third finger, bilateral camptodactyly of the third finger and flexion of both elbows, a fixed position of the shoulders and stiffness in all joints, suggesting a BOS posture; abnormal vagal activity with peripheral hypertonia and bilateral profound deafness; no swallowing reflex, poor facial expression, lack of head control and nearly absent pupillary light reflex" "" "" "" "" "" "" "" "" "" "Bohring-Opitz syndrome (BOS)" "" "0000317884" "04214" "00426730" "00000" "Familial, autosomal recessive" "" "severe respiratory distress at birth; nevus flammeus, exophthalmos, hypertelorism, low-set ears, micrognathia and microcephaly; BOS posture and rhizomelic upper limb shortening; global developmental delay and absent speech. Retinal findings by Heng 2019: soft confluent pale yellow lesions in mid-periphery, attenuated vessels, waxy optic disc, bull’s-eye maculopathy; fibrotic ring around the fovea suggesting a more advanced pathology" "22y" "" "" "" "" "" "" "" "" "Bohring-Opitz syndrome (BOS)" "" "0000317885" "04214" "00426731" "00000" "Familial, autosomal recessive" "" "severe respiratory distress, pulmonary hypertension and throm bocytopenia; nevus flammeus, exophthalmos, hypertelorism, low-set ears, micrognathia and microcephaly; BOS posture and rhizomelic upper limb shortening; global developmental delay and absent speech. Retinal findings by Heng 2019: soft confluent pale yellow lesions in mid-periphery, attenuated vessels, waxy optic disc, bull’s-eye maculopathy; depigmented area around the fovea giving" "19y" "" "" "" "" "" "" "" "" "Bohring-Opitz syndrome (BOS)" "" "0000317886" "04214" "00426732" "00000" "Familial, autosomal recessive" "" "small cardiac ventricular septal defect; development was severely delayed; he started walking at 8 years of age; recurrent and severe aspiration pneumonia; axial hypotonia, fixed contractures of the fingers and toes and ulnar deviation of the right wrist, suggesting the BOS posture; exophthalmos, hypertelorism, micrognathia, low-set posteriorly rotated ears and significant hirsutism; microcephaly and a thin corpus callosum and prominence of the sulci gyri, pericerebral cerebrospinal fluid spaces, ventricles and basal cisterns" "3y" "" "" "" "" "" "" "" "" "Bohring-Opitz syndrome (BOS)" "" "0000317887" "04214" "00426733" "00000" "Familial, autosomal recessive" "" "cold induced sweating; global developmental delay, facial dysmorphism, spasticity and failure to thrive; triangular face, sparse, hypopigmented hair, prominent forehead, facial nevus simplex (flammeus) on the forehead, hirsutism, arched eyebrows, dysplastic ears, downturned corners of mouth, gum hypertrophy, narrow palate. Spasticity, contractures at elbow, camptodactyly and absent deep tendon reflexes; retinal pigmentary abnormalities and mottling" "" "" "" "" "" "" "" "" "" "Bohring-Opitz syndrome (BOS)" "" "0000317888" "04214" "00426734" "00000" "Familial, autosomal dominant" "21y" "retinal pigment migration up toarcades; BCVA at first visit 20/150,20/150; BCVA at most recent visit 20/CF@2 ft.,20/CF@4ft" "49y" "" "" "" "" "" "" "" "" "nonsyndromic autosomal dominant retinitis pigmentosa (adRP)" "" "0000317889" "04214" "00426735" "00000" "Familial, autosomal dominant" "32y" "retinal pigment migration up to arcades; cystoid macular edema OU; BCVA at first visit 20/20,20/25; BCVA at most recent visit 20/30,20/30" "39y" "" "" "" "" "" "" "" "" "nonsyndromic autosomal dominant retinitis pigmentosa (adRP)" "" "0000317890" "04214" "00426736" "00000" "Familial, autosomal dominant" "32y" "retinal pigment migration up to arcades; cystoid macular edema OS; BCVA at first visit 20/50,20/40" "59y" "" "" "" "" "" "" "" "" "nonsyndromic autosomal dominant retinitis pigmentosa (adRP)" "" "0000317891" "04214" "00426737" "00000" "Unknown" "33y" "retinal pigment migration up to arcades; cystoid macular edema OU; BCVA at first visit 20/30,20/30; BCVA at most recent visit 20/40,20/40" "39y" "" "" "" "" "" "" "" "" "nonsyndromic autosomal dominant retinitis pigmentosa (adRP)" "" "0000317892" "04214" "00426738" "00000" "Familial, autosomal recessive" "" "peripheral retinal and optic disc atrophy; seizures in infancy controlled by Phenobarbital; severe psychomotor delay and growth retardation, never developed head control, sitting, standing or walking, no speech at all, and had a history of hospitalization for respiratory distress, chronic diarrhea, urinary infection and an operation for patent ductus arteriosus (PDA); severe growth retardation, short stature and severe secondary microcephaly; facial dysmorphism including prominent eyes, broad nasal bridge, large ears, micrognathia, hypertelorism, low frontal hairline and low set ears; upper and lower extremity contractures, clasped hands, foot deformity and overriding toes;" "" "" "" "" "" "" "" "" "" "Bohring-Opitz syndrome (BOS)" "" "0000317893" "04214" "00426739" "00000" "Familial, autosomal recessive" "" "operation for an atrial septal defect (ASD) at 4 months. She also had an inguinal hernia which was repaired at age 12 months. She was never able to sit, stand, walk or speak; severe growth retardation, severe secondary microcephaly and short stature; prominent eyes, broad nasal bridge, hypertelorism, low set ears, micrognathia and large ears. She had severe psychomotor delay and contractures in the upper and lower extremities. She also had a foot deformity, overriding toes and clasped hands" "" "" "" "" "" "" "" "" "" "Bohring-Opitz syndrome (BOS)" "" "0000320364" "00112" "00429492" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320404" "00112" "00429532" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320408" "00112" "00429536" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320782" "00112" "00429910" "04436" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000330352" "00198" "00440442" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PMID: 27392078" "" "" "0000336159" "00198" "00446960" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal dominant" "" "0000336160" "00198" "00446961" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal dominant" "" "0000336365" "00198" "00447166" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000336784" "00198" "00447585" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" "0000348633" "04214" "00461133" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ## Screenings ## Do not remove or alter this header ## ## Count = 82 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050327" "00050382" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000078882" "00078698" "1" "01604" "01604" "2016-07-21 13:42:00" "" "" "SEQ" "DNA" "" "" "0000078883" "00078699" "1" "01604" "01604" "2016-07-21 13:49:06" "" "" "SEQ" "DNA" "" "" "0000078884" "00078700" "1" "01604" "01604" "2016-07-21 13:55:35" "" "" "SEQ" "DNA" "" "" "0000078885" "00078701" "1" "01604" "01604" "2016-07-21 14:02:31" "" "" "SEQ" "DNA" "" "" "0000078886" "00078702" "1" "01604" "01604" "2016-07-21 14:10:54" "" "" "SEQ" "DNA" "" "" "0000233941" "00232842" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000295584" "00294416" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309663" "00308518" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" "" "0000310358" "00309213" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000329247" "00328032" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329331" "00328116" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329552" "00328337" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000334730" "00333504" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334731" "00333505" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334812" "00333586" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334813" "00333587" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000373310" "00372082" "1" "00000" "00006" "2021-05-06 19:05:11" "" "" "SEQ-NG" "DNA" "" "53-gene panel" "0000378015" "00376810" "1" "00000" "00006" "2021-06-25 15:49:34" "" "" "SEQ-NG" "DNA" "" "WES" "0000378021" "00376816" "1" "00000" "00006" "2021-06-25 15:49:34" "" "" "SEQ-NG" "DNA" "" "WES" "0000378923" "00377719" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "SEQ; SEQ-NG-S" "DNA" "Lymphoblast" "" "0000380852" "00379652" "1" "03508" "03508" "2021-08-06 07:02:51" "" "" "SEQ-NG-I" "DNA" "" "" "0000380856" "00379656" "1" "03508" "03508" "2021-08-06 07:31:41" "" "" "SEQ-NG-I" "DNA" "" "" "0000382997" "00381781" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ;PCR" "DNA" "blood" "" "0000387788" "00386560" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000388202" "00386976" "1" "00000" "03840" "2021-10-28 13:59:26" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000388203" "00386977" "1" "00000" "03840" "2021-10-28 13:59:26" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000388204" "00386978" "1" "00000" "03840" "2021-10-28 13:59:26" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000390416" "00389173" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET7 targeted sequencing panel - see paper" "0000390849" "00389606" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET6 targeted sequencing panel - see paper" "0000391535" "00390294" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391536" "00390295" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391537" "00390296" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000395727" "00394480" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000395852" "00394605" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000428023" "00426703" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;RT-PCR" "DNA;RNA" "" "" "0000428024" "00426704" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;RT-PCR" "DNA;RNA" "" "" "0000428025" "00426705" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;RT-PCR" "DNA;RNA" "" "" "0000428026" "00426706" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;RT-PCR" "DNA;RNA" "" "" "0000428027" "00426707" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;RT-PCR" "DNA;RNA" "" "" "0000428028" "00426708" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;RT-PCR" "DNA;RNA" "" "" "0000428029" "00426709" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;RT-PCR" "DNA;RNA" "" "" "0000428030" "00426710" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;RT-PCR" "DNA;RNA" "" "" "0000428031" "00426711" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;RT-PCR" "DNA;RNA" "" "" "0000428032" "00426712" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;RT-PCR" "DNA;RNA" "" "" "0000428033" "00426713" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;RT-PCR" "DNA;RNA" "" "" "0000428034" "00426714" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;RT-PCR" "DNA;RNA" "" "" "0000428035" "00426715" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;RT-PCR" "DNA;RNA" "" "" "0000428036" "00426716" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;RT-PCR" "DNA;RNA" "" "" "0000428037" "00426717" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;RT-PCR" "DNA;RNA" "" "" "0000428038" "00426718" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;RT-PCR" "DNA;RNA" "" "" "0000428039" "00426719" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;RT-PCR" "DNA;RNA" "" "" "0000428040" "00426720" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;RT-PCR" "DNA;RNA" "" "" "0000428041" "00426721" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;RT-PCR" "DNA;RNA" "" "" "0000428042" "00426722" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;RT-PCR" "DNA;RNA" "" "" "0000428043" "00426723" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;RT-PCR" "DNA;RNA" "" "" "0000428044" "00426724" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;RT-PCR" "DNA;RNA" "" "" "0000428045" "00426725" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;RT-PCR" "DNA;RNA" "" "" "0000428046" "00426726" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;RT-PCR" "DNA;RNA" "" "" "0000428047" "00426727" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000428048" "00426728" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000428049" "00426729" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000428050" "00426730" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000428051" "00426731" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000428052" "00426732" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000428053" "00426733" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000428054" "00426734" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000428055" "00426735" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000428056" "00426736" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000428057" "00426737" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000428058" "00426738" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000428059" "00426739" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000430905" "00429492" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000430945" "00429532" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000430949" "00429536" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431323" "00429910" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000441927" "00440442" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000448537" "00446960" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448538" "00446961" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448743" "00447166" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449162" "00447585" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000462765" "00461133" "1" "00006" "00006" "2025-01-31 08:52:59" "" "" "SEQ-NG" "DNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 70 "{{screeningid}}" "{{geneid}}" "0000078882" "KLHL7" "0000078883" "KLHL7" "0000078884" "KLHL7" "0000078885" "KLHL7" "0000078886" "KLHL7" "0000233941" "KLHL7" "0000309663" "KLHL7" "0000310358" "KLHL7" "0000329247" "KLHL7" "0000329331" "KLHL7" "0000329552" "KLHL7" "0000334730" "KLHL7" "0000334731" "KLHL7" "0000334812" "KLHL7" "0000334813" "KLHL7" "0000373310" "KLHL7" "0000378923" "KLHL7" "0000382997" "KLHL7" "0000387788" "KLHL7" "0000388202" "KLHL7" "0000388203" "KLHL7" "0000388204" "KLHL7" "0000390416" "KLHL7" "0000390849" "KLHL7" "0000391535" "KLHL7" "0000391536" "KLHL7" "0000391537" "KLHL7" "0000395727" "KLHL7" "0000395852" "KLHL7" "0000428023" "KLHL7" "0000428024" "KLHL7" "0000428025" "KLHL7" "0000428026" "KLHL7" "0000428027" "KLHL7" "0000428028" "KLHL7" "0000428029" "KLHL7" "0000428030" "KLHL7" "0000428031" "KLHL7" "0000428032" "KLHL7" "0000428033" "KLHL7" "0000428034" "KLHL7" "0000428035" "KLHL7" "0000428036" "KLHL7" "0000428037" "KLHL7" "0000428038" "KLHL7" "0000428039" "KLHL7" "0000428040" "KLHL7" "0000428041" "KLHL7" "0000428042" "KLHL7" "0000428043" "KLHL7" "0000428044" "KLHL7" "0000428045" "KLHL7" "0000428046" "KLHL7" "0000428047" "KLHL7" "0000428048" "KLHL7" "0000428049" "KLHL7" "0000428050" "KLHL7" "0000428051" "KLHL7" "0000428052" "KLHL7" "0000428053" "KLHL7" "0000428054" "KLHL7" "0000428055" "KLHL7" "0000428056" "KLHL7" "0000428057" "KLHL7" "0000428058" "KLHL7" "0000428059" "KLHL7" "0000430905" "KLHL7" "0000430945" "KLHL7" "0000430949" "KLHL7" "0000431323" "KLHL7" ## 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 = 113 "{{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}}" "0000079307" "0" "90" "7" "23187650" "32932034" "del" "0" "00006" "ADCYAP1R1_000001" "g.23187650_32932034del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000125890" "3" "70" "7" "23207538" "23207538" "subst" "0" "01604" "KLHL7_000004" "g.23207538T>A" "" "{PMID:Angius 2016:27392078}, {DOI:Angius 2016:10.1016/j.ajhg.2016.05.026}" "" "" "" "Germline" "" "" "0" "" "" "g.23167919T>A" "" "likely pathogenic" "" "0000125891" "3" "90" "7" "23205402" "23205402" "del" "0" "01604" "KLHL7_000001" "g.23205402del" "" "{PMID:Angius 2016:27392078}, {DOI:Angius 2016:10.1016/j.ajhg.2016.05.026}" "" "" "" "Germline" "" "" "0" "" "" "g.23165783del" "" "pathogenic" "" "0000125892" "3" "90" "7" "23205402" "23205402" "del" "0" "01604" "KLHL7_000001" "g.23205402del" "" "{PMID:Angius 2016:27392078}, {DOI:Angius 2016:10.1016/j.ajhg.2016.05.026}" "" "" "" "Germline" "" "" "0" "" "" "g.23165783del" "" "pathogenic" "" "0000125893" "3" "70" "7" "23207535" "23207535" "subst" "8.12209E-6" "01604" "KLHL7_000003" "g.23207535C>T" "" "{PMID:Angius 2016:27392078}, {DOI:Angius 2016:10.1016/j.ajhg.2016.05.026}" "" "" "" "Germline" "" "" "0" "" "" "g.23167916C>T" "" "likely pathogenic" "" "0000125894" "3" "70" "7" "23205495" "23205495" "subst" "0" "01604" "KLHL7_000002" "g.23205495G>A" "" "{PMID:Angius 2016:27392078}, {DOI:Angius 2016:10.1016/j.ajhg.2016.05.026}" "" "" "" "Germline" "" "" "0" "" "" "g.23165876G>A" "" "likely pathogenic" "" "0000246652" "0" "50" "7" "23212634" "23212634" "subst" "0" "02330" "KLHL7_000012" "g.23212634A>G" "" "" "" "KLHL7(NM_018846.5):c.1303A>G (p.I435V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23173015A>G" "" "VUS" "" "0000246655" "0" "50" "7" "23212625" "23212625" "subst" "0" "02330" "KLHL7_000010" "g.23212625A>G" "" "" "" "KLHL7(NM_018846.5):c.1294A>G (p.K432E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23173006A>G" "" "VUS" "" "0000255089" "0" "30" "7" "23207651" "23207651" "subst" "0" "01943" "KLHL7_000009" "g.23207651A>G" "" "" "" "KLHL7(NM_018846.4):c.1230A>G (p.T410=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23168032A>G" "" "likely benign" "" "0000278601" "0" "10" "7" "23180404" "23180404" "subst" "0.000922404" "02330" "KLHL7_000007" "g.23180404G>A" "" "" "" "KLHL7(NM_018846.5):c.315G>A (p.A105=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23140785G>A" "" "benign" "" "0000281821" "0" "10" "7" "23164526" "23164526" "subst" "0" "02325" "KLHL7_000006" "g.23164526C>G" "" "" "" "KLHL7(NM_018846.5):c.173+126C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23124907C>G" "" "benign" "" "0000290415" "0" "50" "7" "23213687" "23213687" "subst" "0" "01943" "KLHL7_000011" "g.23213687G>A" "" "" "" "KLHL7(NM_018846.4):c.1387G>A (p.V463I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23174068G>A" "" "VUS" "" "0000290416" "0" "30" "7" "23145666" "23145666" "subst" "0" "01943" "KLHL7_000005" "g.23145666G>A" "" "" "" "KLHL7(NM_001031710.2):c.21G>A (p.E7=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23106047G>A" "" "likely benign" "" "0000290417" "0" "30" "7" "23183589" "23183589" "subst" "0.000121938" "01943" "KLHL7_000008" "g.23183589G>A" "" "" "" "KLHL7(NM_018846.4):c.594G>A (p.T198=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23143970G>A" "" "likely benign" "" "0000476649" "0" "50" "7" "23207655" "23207655" "subst" "1.22545E-5" "02591" "KLHL7_000013" "g.23207655A>G" "6/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs761755398" "0" "" "" "g.23168036A>G" "" "VUS" "" "0000531708" "0" "30" "7" "23163401" "23163401" "subst" "3.25248E-5" "01943" "KLHL7_000014" "g.23163401G>A" "" "" "" "KLHL7(NM_001031710.2):c.126G>A (p.T42=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23123782G>A" "" "likely benign" "" "0000531709" "0" "30" "7" "23180458" "23180458" "subst" "0.00022343" "01943" "KLHL7_000015" "g.23180458G>A" "" "" "" "KLHL7(NM_018846.4):c.369G>A (p.Q123=), KLHL7(NM_018846.5):c.369G>A (p.Q123=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23140839G>A" "" "likely benign" "" "0000531710" "0" "30" "7" "23191833" "23191833" "subst" "0" "01804" "KLHL7_000016" "g.23191833C>A" "" "" "" "KLHL7(NM_001031710.2):c.936+5C>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23152214C>A" "" "likely benign" "" "0000531711" "0" "30" "7" "23212627" "23212627" "subst" "0.00721706" "01943" "KLHL7_000017" "g.23212627A>G" "" "" "" "KLHL7(NM_018846.4):c.1296A>G (p.K432=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23173008A>G" "" "likely benign" "" "0000611020" "0" "30" "7" "23213740" "23213740" "subst" "0.000109642" "01943" "KLHL7_000018" "g.23213740T>C" "" "" "" "KLHL7(NM_018846.4):c.1440T>C (p.S480=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23174121T>C" "" "likely benign" "" "0000652273" "1" "90" "7" "23180403" "23180403" "subst" "0" "03575" "KLHL7_000019" "g.23180403C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs137853113}" "Germline" "" "rs137853113" "0" "" "" "g.23140784C>T" "" "pathogenic" "" "0000684536" "1" "70" "7" "23180394" "23180394" "subst" "0" "00004" "KLHL7_000020" "g.23180394G>A" "2/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000685269" "0" "70" "7" "23180403" "23180403" "subst" "0" "00004" "KLHL7_000019" "g.23180403C>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "NM_001031710" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000713370" "0" "90" "7" "23164771" "23164771" "subst" "0" "00000" "KLHL7_000021" "g.23164771T>C" "" "{PMID:Carss 2017:28041643}" "" "7:23164771T>C ENST00000339077.5:c.422T>C (Val141Ala)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000713454" "0" "90" "7" "23164782" "23164782" "subst" "0" "00000" "KLHL7_000022" "g.23164782A>G" "" "{PMID:Carss 2017:28041643}" "" "7:23164782A>G ENST00000339077.5:c.433A>G (Asn145Asp)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000713675" "0" "90" "7" "23164782" "23164782" "subst" "0" "00000" "KLHL7_000022" "g.23164782A>G" "" "{PMID:Carss 2017:28041643}" "" "7:23164782A>G ENST00000339077.5:c.433A>G (Asn145Asp)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000732737" "0" "70" "7" "23180403" "23180403" "subst" "0" "00000" "KLHL7_000019" "g.23180403C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.23140784C>T" "" "likely pathogenic" "" "0000732738" "0" "70" "7" "23180459" "23180459" "subst" "0" "00000" "KLHL7_000024" "g.23180459C>G" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.23140840C>G" "" "likely pathogenic" "" "0000732819" "0" "70" "7" "23180451" "23180451" "subst" "0" "00000" "KLHL7_000023" "g.23180451T>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.23140832T>A" "" "likely pathogenic" "" "0000732820" "0" "70" "7" "23212566" "23212566" "subst" "0" "00000" "KLHL7_000025" "g.23212566G>C" "" "{PMID:Stone 2017:28559085}" "" "IVS9-1 G>C" "" "Germline" "" "" "0" "" "" "g.23172947G>C" "" "likely pathogenic" "" "0000783282" "0" "70" "7" "23180403" "23180403" "subst" "0" "00000" "KLHL7_000019" "g.23180403C>T" "" "{PMID:Yoon 2015:26155838}" "" "" "" "Germline" "" "rs137853113" "0" "" "" "g.23140784C>T" "" "likely pathogenic (dominant)" "" "0000790674" "1" "90" "7" "23180403" "23180403" "subst" "0" "00000" "KLHL7_000019" "g.23180403C>T" "" "{PMID:Daiger 2014:24664689}" "" "" "" "Germline" "" "" "0" "" "" "g.23140784C>T" "" "pathogenic (dominant)" "" "0000790681" "1" "90" "7" "0" "0" "" "0" "00000" "EZH2_000001" "g.?" "" "{PMID:Daiger 2014:24664689}" "" "Ala153Val" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000791913" "0" "90" "7" "23180403" "23180403" "subst" "0" "00000" "KLHL7_000019" "g.23180403C>T" "" "{PMID:Bowne 2011:20861475}" "" "c.458C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000794065" "0" "70" "7" "23180394" "23180394" "subst" "0" "03508" "KLHL7_000020" "g.23180394G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "ACMG" "0000794071" "0" "70" "7" "23164782" "23164782" "subst" "0" "03508" "KLHL7_000022" "g.23164782A>G" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG" "0000796975" "0" "70" "7" "23180402" "23180402" "subst" "0" "00000" "KLHL7_000026" "g.23180402G>A" "" "{PMID:Sullivan-2013:23950152}" "" "c.457G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000815946" "0" "50" "7" "23180417" "23180417" "subst" "0" "00000" "KLHL7_000028" "g.23180417T>C" "" "{PMID:Zampaglione 2020:32037395}" "" "KLHL7 c.472T>C, p.Cys158Arg" "heterozygous" "Unknown" "?" "" "0" "" "" "g.23140798T>C" "" "VUS" "" "0000816661" "0" "70" "7" "23164782" "23164782" "subst" "0" "00000" "KLHL7_000027" "g.23164782A>T" "" "{PMID:Jauregui 2020:32098976}" "" "KLHL7 c.433A>T, p.N145Y" "heterozygous" "Unknown" "?" "" "0" "" "" "g.23125163A>T" "" "likely pathogenic" "" "0000816662" "0" "70" "7" "23164782" "23164782" "subst" "0" "00000" "KLHL7_000022" "g.23164782A>G" "" "{PMID:Jauregui 2020:32098976}" "" "KLHL7 c.433A>G, p.N145D" "heterozygous" "Unknown" "?" "" "0" "" "" "g.23125163A>G" "" "likely pathogenic" "" "0000816663" "0" "70" "7" "23180417" "23180417" "subst" "0" "00000" "KLHL7_000028" "g.23180417T>C" "" "{PMID:Jauregui 2020:32098976}" "" "KLHL7 c.472T>C, p.C158R" "heterozygous" "Unknown" "?" "" "0" "" "" "g.23140798T>C" "" "likely pathogenic" "" "0000819761" "1" "70" "7" "23180543" "23180546" "del" "0" "00000" "KLHL7_000029" "g.23180543_23180546del" "" "{PMID:Weisschuh 2020:32531858}" "" "KLHL7, variant 1: c.598_601del/p.T200*" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.23140924_23140927del" "" "likely pathogenic" "" "0000820194" "1" "70" "7" "23164782" "23164782" "subst" "0" "00000" "KLHL7_000022" "g.23164782A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "KLHL7, variant 1: c.433A>G/p.N145D" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.23125163A>G" "" "likely pathogenic" "" "0000821284" "0" "70" "7" "23164771" "23164771" "subst" "0" "00000" "KLHL7_000021" "g.23164771T>C" "" "{PMID:Turro 2020:32581362}" "" "KLHL7 c.422T>C, p.Val141Ala" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.23125152T>C" "" "likely pathogenic" "" "0000821285" "0" "70" "7" "23164782" "23164782" "subst" "0" "00000" "KLHL7_000022" "g.23164782A>G" "" "{PMID:Turro 2020:32581362}" "" "KLHL7 c.433A>G, p.Asn145Asp" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.23125163A>G" "" "likely pathogenic" "" "0000821286" "0" "70" "7" "23164782" "23164782" "subst" "0" "00000" "KLHL7_000022" "g.23164782A>G" "" "{PMID:Turro 2020:32581362}" "" "KLHL7 c.433A>G, p.Asn145Asp" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.23125163A>G" "" "likely pathogenic" "" "0000827129" "0" "90" "7" "23180403" "23180403" "subst" "0" "00000" "KLHL7_000019" "g.23180403C>T" "" "{PMID:Colombo-2020:33576794}" "" "c.458C>T" "" "Germline" "yes" "rs137853113" "0" "" "" "" "" "pathogenic (dominant)" "" "0000827288" "0" "70" "7" "23180559" "23180559" "subst" "0" "00000" "KLHL7_000031" "g.23180559A>G" "" "{PMID:Colombo-2020:33576794}" "" "c.614A>G" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000827289" "0" "70" "7" "23145757" "23145757" "subst" "0" "00000" "KLHL7_000030" "g.23145757C>T" "" "{PMID:Colombo-2020:33576794}" "" "c.112C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000851574" "0" "50" "7" "23145768" "23145768" "subst" "0" "02330" "KLHL7_000032" "g.23145768A>G" "" "" "" "KLHL7(NM_001031710.3):c.120+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851575" "0" "70" "7" "23164782" "23164782" "subst" "0" "02327" "KLHL7_000022" "g.23164782A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000860723" "0" "50" "7" "23205386" "23205386" "subst" "0" "02327" "KLHL7_000033" "g.23205386A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887825" "0" "30" "7" "23180458" "23180458" "subst" "0.00022343" "02330" "KLHL7_000015" "g.23180458G>A" "" "" "" "KLHL7(NM_018846.4):c.369G>A (p.Q123=), KLHL7(NM_018846.5):c.369G>A (p.Q123=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887826" "0" "50" "7" "23207549" "23207549" "subst" "0" "02327" "KLHL7_000034" "g.23207549G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000905640" "0" "70" "7" "23180394" "23180394" "subst" "0" "00000" "KLHL7_000020" "g.23180394G>A" "" "{PMID:Friedman 2009:19520207}" "" "c.449G/A, p.S150N" "0/102 Scandinavian controls, 0/183 North American controls and 0/185 UK controls" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000905641" "0" "70" "7" "23180394" "23180394" "subst" "0" "00000" "KLHL7_000020" "g.23180394G>A" "" "{PMID:Friedman 2009:19520207}" "" "c.449G/A, p.S150N" "0/102 Scandinavian controls, 0/183 North American controls and 0/185 UK controls" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000905642" "0" "70" "7" "23180403" "23180403" "subst" "0" "00000" "KLHL7_000019" "g.23180403C>T" "" "{PMID:Hugosson-2010:20547956}, {PMID:Friedman 2009:19520207}" "" "c.458C/T, p.A153V" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000905643" "0" "70" "7" "23180403" "23180403" "subst" "0" "00000" "KLHL7_000019" "g.23180403C>T" "" "{PMID:Friedman 2009:19520207}" "" "c.458C/T, p.A153V" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000905644" "0" "70" "7" "23180403" "23180403" "subst" "0" "00000" "KLHL7_000019" "g.23180403C>T" "" "{PMID:Friedman 2009:19520207}" "" "c.458C/T, p.A153V" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000905645" "0" "70" "7" "23180402" "23180402" "subst" "0" "00000" "KLHL7_000026" "g.23180402G>A" "" "{PMID:Friedman 2009:19520207}" "" "c.457G/A, p.A153T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000905646" "0" "50" "7" "23145411" "23145411" "subst" "0.0166072" "00000" "KLHL7_000035" "g.23145411G>T" "" "{PMID:Friedman 2009:19520207}" "" "c.-235G/T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000905647" "0" "50" "7" "23145528" "23145528" "subst" "0.000207742" "00000" "KLHL7_000036" "g.23145528G>A" "" "{PMID:Friedman 2009:19520207}" "" "c.-118G/A" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000905648" "0" "50" "7" "23145698" "23145698" "subst" "0" "00000" "KLHL7_000037" "g.23145698A>G" "" "{PMID:Friedman 2009:19520207}" "" "c.53A/G" "" "Germline" "" "rs17147682" "0" "" "" "" "" "VUS" "" "0000905649" "0" "50" "7" "23164701" "23164701" "subst" "0.343517" "00000" "KLHL7_000040" "g.23164701C>T" "" "{PMID:Friedman 2009:19520207}" "" "c.352C/T" "" "Germline" "" "rs15775" "0" "" "" "" "" "VUS" "" "0000905650" "0" "50" "7" "23180458" "23180458" "subst" "0.00022343" "00000" "KLHL7_000015" "g.23180458G>A" "" "{PMID:Friedman 2009:19520207}" "" "c.513G/A" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000905651" "0" "50" "7" "23183614" "23183614" "subst" "0" "00000" "KLHL7_000042" "g.23183614G>A" "" "{PMID:Friedman 2009:19520207}" "" "c.763G/A" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000905652" "0" "50" "7" "23191708" "23191708" "subst" "4.0653E-6" "00000" "KLHL7_000043" "g.23191708G>A" "" "{PMID:Friedman 2009:19520207}" "" "c.816G/A" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000905653" "0" "50" "7" "23205634" "23205634" "subst" "0" "00000" "KLHL7_000047" "g.23205634C>T" "" "{PMID:Friedman 2009:19520207}" "" "c.1177+77C/T" "" "Germline" "" "rs858312" "0" "" "" "" "" "VUS" "" "0000905654" "0" "50" "7" "23212555" "23212555" "subst" "4.06266E-6" "00000" "KLHL7_000050" "g.23212555T>G" "" "{PMID:Friedman 2009:19520207}" "" "c.1380-12T/G" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000905655" "0" "10" "7" "23207544" "23207544" "subst" "0" "00000" "KLHL7_000048" "g.23207544C>T" "" "{PMID:Friedman 2009:19520207}" "" "c.1267C/T" "" "Germline" "no" "" "0" "" "" "" "" "benign" "" "0000905656" "0" "50" "7" "23207630" "23207630" "subst" "0" "00000" "KLHL7_000049" "g.23207630T>C" "" "{PMID:Friedman 2009:19520207}" "" "c.1353T/C" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000905657" "0" "50" "7" "23212601" "23212601" "subst" "0" "00000" "KLHL7_000051" "g.23212601A>G" "" "{PMID:Friedman 2009:19520207}" "" "c.1414A/G" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000905658" "0" "50" "7" "23212627" "23212627" "subst" "0.00721706" "00000" "KLHL7_000017" "g.23212627A>G" "" "{PMID:Friedman 2009:19520207}" "" "c.1440A/G" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000905659" "0" "50" "7" "23213734" "23213734" "subst" "0.0064202" "00000" "KLHL7_000052" "g.23213734T>C" "" "{PMID:Friedman 2009:19520207}" "" "c.1578T/C" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000905660" "0" "50" "7" "23213924" "23213924" "subst" "0.00260732" "00000" "KLHL7_000053" "g.23213924A>G" "" "{PMID:Friedman 2009:19520207}" "" "c.*7A/G" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000905661" "0" "50" "7" "0" "0" "" "0" "00000" "EZH2_000001" "g.?" "" "{PMID:Friedman 2009:19520207}" "" "c.*23_35delinsTG" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000905662" "0" "50" "7" "23145411" "23145411" "subst" "0.0166072" "00000" "KLHL7_000035" "g.23145411G>T" "" "{PMID:Friedman 2009:19520207}" "" "c.-235G/T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000905663" "0" "50" "7" "23145698" "23145698" "subst" "0" "00000" "KLHL7_000037" "g.23145698A>G" "" "{PMID:Friedman 2009:19520207}" "" "c.53A/G" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000905664" "0" "50" "7" "23145698" "23145698" "subst" "0" "00000" "KLHL7_000037" "g.23145698A>G" "" "{PMID:Friedman 2009:19520207}" "" "c.53A/G" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000905665" "0" "50" "7" "0" "0" "" "0" "00000" "EZH2_000001" "g.?" "" "{PMID:Friedman 2009:19520207}" "" "c.*23_35delinsTG" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000905666" "0" "50" "7" "23145411" "23145411" "subst" "0.0166072" "00000" "KLHL7_000035" "g.23145411G>T" "" "{PMID:Friedman 2009:19520207}" "" "c.-235G/T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000905667" "0" "50" "7" "23145698" "23145698" "subst" "0" "00000" "KLHL7_000037" "g.23145698A>G" "" "{PMID:Friedman 2009:19520207}" "" "c.53A/G" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000905668" "0" "50" "7" "0" "0" "" "0" "00000" "EZH2_000001" "g.?" "" "{PMID:Friedman 2009:19520207}" "" "c.*23_35delinsTG" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000905669" "3" "70" "7" "23180420" "23180420" "subst" "0" "00000" "KLHL7_000041" "g.23180420G>A" "" "{PMID:Bruel 2017:29074562}" "" "NM_018846.4:c.474+1G>A" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000905670" "3" "70" "7" "23180420" "23180420" "subst" "0" "00000" "KLHL7_000041" "g.23180420G>A" "" "{PMID:Bruel 2017:29074562}" "" "NM_018846.4:c.474+1G>A" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000905671" "3" "70" "7" "23205527" "23205527" "subst" "0" "00000" "KLHL7_000046" "g.23205527A>T" "" "{PMID:Bruel 2017:29074562}" "" "NM_018846.4:p.Lys383*" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000905672" "3" "70" "7" "23205431" "23205431" "subst" "1.62479E-5" "00000" "KLHL7_000045" "g.23205431C>T" "" "{PMID:Bruel 2017:29074562}, {PMID:Heng 2019:30997404}" "" "NM_018846.4:p.Arg351*" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000905673" "3" "70" "7" "23205431" "23205431" "subst" "1.62479E-5" "00000" "KLHL7_000045" "g.23205431C>T" "" "{PMID:Bruel 2017:29074562}, {PMID:Heng 2019:30997404}" "" "NM_018846.4:p.Arg351*" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000905674" "3" "70" "7" "23191827" "23191847" "del" "0" "00000" "KLHL7_000044" "g.23191827_23191847del" "" "{PMID:Bruel 2017:29074562}" "" "c.935_936+19 del" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000905675" "3" "70" "7" "23163456" "23163458" "del" "0" "00000" "KLHL7_000038" "g.23163456_23163458delTGT" "" "{PMID:Kanthi-2019:30142437}" "" "c.181_183delTGT" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000905676" "0" "90" "7" "23180417" "23180417" "subst" "0" "00000" "KLHL7_000028" "g.23180417T>C" "" "{PMID:Oh 2019:31856884}" "" "c.472T>C:p.(Cys158Arg)*" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000905677" "0" "90" "7" "23180403" "23180403" "subst" "0" "00000" "KLHL7_000019" "g.23180403C>T" "" "{PMID:Oh 2019:31856884}" "" "c.458C>T:p.(Ala153Val)" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000905678" "0" "90" "7" "23164782" "23164782" "subst" "0" "00000" "KLHL7_000022" "g.23164782A>G" "" "{PMID:Oh 2019:31856884}" "" "c.433A>G:p.(Asn145Asp)" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000905679" "0" "90" "7" "23180417" "23180417" "subst" "0" "00000" "KLHL7_000028" "g.23180417T>C" "" "{PMID:Oh 2019:31856884}" "" "c.472T>C:p.(Cys158Arg)*" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000905680" "0" "90" "7" "23164782" "23164782" "subst" "0" "00000" "KLHL7_000027" "g.23164782A>T" "" "{PMID:Oh 2019:31856884}" "" "c.433A>T:p.(Asn145Tyr)*" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000905681" "3" "90" "7" "23164330" "23164330" "del" "0" "00000" "KLHL7_000039" "g.23164330del" "" "{PMID:Cheraghi-2020:31953236}" "" "c.247del; p.(Phe83Leufs*3)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000905682" "3" "90" "7" "23164330" "23164330" "del" "0" "00000" "KLHL7_000039" "g.23164330del" "" "{PMID:Cheraghi-2020:31953236}" "" "c.247del; p.(Phe83Leufs*3)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000915794" "0" "90" "7" "23180403" "23180403" "subst" "0" "04436" "KLHL7_000019" "g.23180403C>T" "" "{PMID:Panneman 2023:36819107}" "" "c.458C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000915849" "0" "70" "7" "23164771" "23164771" "subst" "0" "04436" "KLHL7_000021" "g.23164771T>C" "" "{PMID:Panneman 2023:36819107}" "" "c.422T>C" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000915853" "0" "90" "7" "23180403" "23180403" "subst" "0" "04436" "KLHL7_000019" "g.23180403C>T" "" "{PMID:Panneman 2023:36819107}" "" "c.458C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916416" "0" "90" "7" "23180403" "23180403" "subst" "0" "04436" "KLHL7_000019" "g.23180403C>T" "" "{PMID:Panneman 2023:36819107}" "" "c.458C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000929327" "0" "10" "7" "23164701" "23164701" "subst" "0.343517" "02327" "KLHL7_000040" "g.23164701C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000929328" "0" "70" "7" "23164789" "23164789" "subst" "0" "02327" "KLHL7_000054" "g.23164789T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000939869" "3" "70" "7" "23180564" "23180564" "subst" "0" "00006" "KLHL7_000055" "g.23180564G>A" "" "{PMID:Nambot 2018:29095811}" "" "NM_018846.4:c.474+1G>A" "" "Germline" "" "" "0" "" "" "g.23140945G>A" "" "likely pathogenic (recessive)" "" "0000948900" "0" "30" "7" "23180582" "23180582" "subst" "0" "02330" "KLHL7_000056" "g.23180582C>T" "" "" "" "KLHL7(NM_001031710.3):c.618+19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000958023" "0" "90" "7" "23180403" "23180403" "subst" "0" "00006" "KLHL7_000019" "g.23180403C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5_SUPPORTING, PM1, PP2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.23140784C>T" "1009" "pathogenic (dominant)" "ACMG" "0000958024" "0" "90" "7" "23180403" "23180403" "subst" "0" "00006" "KLHL7_000019" "g.23180403C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5_SUPPORTING, PM1, PP2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.23140784C>T" "1009" "pathogenic (dominant)" "ACMG" "0000958229" "0" "70" "7" "23205349" "23205349" "del" "0" "00006" "KLHL7_000058" "g.23205349del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1" "Germline/De novo (untested)" "" "" "0" "" "" "g.23165730del" "" "likely pathogenic (dominant)" "ACMG" "0000958929" "21" "50" "7" "23191689" "23191689" "subst" "0" "00006" "KLHL7_000057" "g.23191689G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP2" "Germline" "" "" "0" "" "" "g.23152070G>A" "" "VUS" "ACMG" "0000996430" "0" "70" "7" "23164771" "23164771" "subst" "0" "02327" "KLHL7_000021" "g.23164771T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000996431" "0" "50" "7" "23183516" "23183516" "subst" "8.1244E-6" "01804" "KLHL7_000059" "g.23183516G>A" "" "" "" "KLHL7(NM_001031710.2):c.665G>A (p.(Arg222His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996432" "0" "30" "7" "23205387" "23205387" "subst" "0" "01804" "KLHL7_000060" "g.23205387A>T" "" "" "" "KLHL7(NM_001031710.2):c.1007A>T (p.(Asn336Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001022316" "1" "70" "7" "23164782" "23164782" "subst" "0" "00006" "KLHL7_000022" "g.23164782A>G" "" "{PMID:Midgley 2024:39676705}" "" "" "" "Germline" "" "rs1182983579" "0" "" "" "g.23125163A>G" "" "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 KLHL7 ## Count = 113 "{{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}}" "0000079307" "00025244" "00" "793" "4006" "8388607" "0" "c.793+4006_*9718117del" "r.?" "p.?" "" "0000125890" "00025244" "70" "1261" "0" "1261" "0" "c.1261T>A" "r.(?)" "p.(Cys421Ser)" "9" "0000125891" "00025244" "90" "1022" "0" "1022" "0" "c.1022del" "r.(?)" "p.(Leu341Trpfs*9)" "8" "0000125892" "00025244" "90" "1022" "0" "1022" "0" "c.1022del" "r.(?)" "p.(Leu341Trpfs*9)" "8" "0000125893" "00025244" "70" "1258" "0" "1258" "0" "c.1258C>T" "r.(?)" "p.(Arg420Cys)" "9" "0000125894" "00025244" "70" "1115" "0" "1115" "0" "c.1115G>A" "r.(?)" "p.(Arg372Gln)" "8" "0000246652" "00025244" "50" "1447" "0" "1447" "0" "c.1447A>G" "r.(?)" "p.(Ile483Val)" "" "0000246655" "00025244" "50" "1438" "0" "1438" "0" "c.1438A>G" "r.(?)" "p.(Lys480Glu)" "" "0000255089" "00025244" "30" "1374" "0" "1374" "0" "c.1374A>G" "r.(?)" "p.(Thr458=)" "" "0000278601" "00025244" "10" "459" "0" "459" "0" "c.459G>A" "r.(?)" "p.(Ala153=)" "" "0000281821" "00025244" "10" "317" "126" "317" "126" "c.317+126C>G" "r.(=)" "p.(=)" "" "0000290415" "00025244" "50" "1531" "0" "1531" "0" "c.1531G>A" "r.(?)" "p.(Val511Ile)" "" "0000290416" "00025244" "30" "21" "0" "21" "0" "c.21G>A" "r.(?)" "p.(Glu7=)" "" "0000290417" "00025244" "30" "738" "0" "738" "0" "c.738G>A" "r.(?)" "p.(Thr246=)" "" "0000476649" "00025244" "50" "1378" "0" "1378" "0" "c.1378A>G" "r.(?)" "p.(Thr460Ala)" "" "0000531708" "00025244" "30" "126" "0" "126" "0" "c.126G>A" "r.(?)" "p.(Thr42=)" "" "0000531709" "00025244" "30" "513" "0" "513" "0" "c.513G>A" "r.(?)" "p.(Gln171=)" "" "0000531710" "00025244" "30" "936" "5" "936" "5" "c.936+5C>A" "r.spl?" "p.?" "" "0000531711" "00025244" "30" "1440" "0" "1440" "0" "c.1440A>G" "r.(?)" "p.(Lys480=)" "" "0000611020" "00025244" "30" "1584" "0" "1584" "0" "c.1584T>C" "r.(?)" "p.(Ser528=)" "" "0000652273" "00025244" "90" "458" "0" "458" "0" "c.458C>T" "r.(?)" "p.(Ala153Val)" "" "0000684536" "00025244" "70" "449" "0" "449" "0" "c.449G>A" "r.(?)" "p.(Ser150Asn)" "" "0000685269" "00025244" "70" "458" "0" "458" "0" "c.458C>T" "r.(?)" "p.(Ala153Val)" "" "0000713370" "00025244" "90" "422" "0" "422" "0" "c.422T>C" "r.(?)" "p.(Val141Ala)" "" "0000713454" "00025244" "90" "433" "0" "433" "0" "c.433A>G" "r.(?)" "p.(Asn145Asp)" "" "0000713675" "00025244" "90" "433" "0" "433" "0" "c.433A>G" "r.(?)" "p.(Asn145Asp)" "" "0000732737" "00025244" "70" "458" "0" "458" "0" "c.458C>T" "r.(?)" "p.(Ala153Val)" "" "0000732738" "00025244" "70" "514" "0" "514" "0" "c.514C>G" "r.(?)" "p.(His172Asp)" "" "0000732819" "00025244" "70" "506" "0" "506" "0" "c.506T>A" "r.(?)" "p.(Ile169Asn)" "" "0000732820" "00025244" "70" "1380" "-1" "1380" "-1" "c.1380-1G>C" "r.spl" "p.?" "" "0000783282" "00025244" "70" "458" "0" "458" "0" "c.458C>T" "r.(?)" "p.(Ala153Val)" "5" "0000790674" "00025244" "90" "458" "0" "458" "0" "c.458C>T" "r.(?)" "p.(Ala153Val)" "" "0000790681" "00025244" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000791913" "00025244" "90" "458" "0" "458" "0" "c.458C>T" "r.(?)" "p.(Ala153Val)" "5" "0000794065" "00025244" "70" "449" "0" "449" "0" "c.449G>A" "r.(?)" "p.(Ser150Asn)" "" "0000794071" "00025244" "70" "433" "0" "433" "0" "c.433A>G" "r.(?)" "p.(Asn145Asp)" "" "0000796975" "00025244" "70" "457" "0" "457" "0" "c.457G>A" "r.(?)" "p.(Ala153Thr)" "5" "0000815946" "00025244" "50" "472" "0" "472" "0" "c.472T>C" "r.(?)" "p.(Cys158Arg)" "" "0000816661" "00025244" "70" "433" "0" "433" "0" "c.433A>T" "r.(?)" "p.(Asn145Tyr)" "" "0000816662" "00025244" "70" "433" "0" "433" "0" "c.433A>G" "r.(?)" "p.(Asn145Asp)" "" "0000816663" "00025244" "70" "472" "0" "472" "0" "c.472T>C" "r.(?)" "p.(Cys158Arg)" "" "0000819761" "00025244" "70" "598" "0" "601" "0" "c.598_601del" "r.(?)" "p.(Thr200*)" "" "0000820194" "00025244" "70" "433" "0" "433" "0" "c.433A>G" "r.(?)" "p.(Asn145Asp)" "" "0000821284" "00025244" "70" "422" "0" "422" "0" "c.422T>C" "r.(?)" "p.(Val141Ala)" "" "0000821285" "00025244" "70" "433" "0" "433" "0" "c.433A>G" "r.(?)" "p.(Asn145Asp)" "" "0000821286" "00025244" "70" "433" "0" "433" "0" "c.433A>G" "r.(?)" "p.(Asn145Asp)" "" "0000827129" "00025244" "90" "458" "0" "458" "0" "c.458C>T" "r.(?)" "p.(Ala153Val)" "5" "0000827288" "00025244" "70" "614" "0" "614" "0" "c.614A>G" "r.(?)" "p.(Asp205Gly)" "5" "0000827289" "00025244" "70" "112" "0" "112" "0" "c.112C>T" "r.(?)" "p.(Arg38Trp)" "1" "0000851574" "00025244" "50" "120" "3" "120" "3" "c.120+3A>G" "r.spl?" "p.?" "" "0000851575" "00025244" "70" "433" "0" "433" "0" "c.433A>G" "r.(?)" "p.(Asn145Asp)" "" "0000860723" "00025244" "50" "1006" "0" "1006" "0" "c.1006A>C" "r.(?)" "p.(Asn336His)" "" "0000887825" "00025244" "30" "513" "0" "513" "0" "c.513G>A" "r.(?)" "p.(Gln171=)" "" "0000887826" "00025244" "50" "1272" "0" "1272" "0" "c.1272G>T" "r.(?)" "p.(Gly424=)" "" "0000905640" "00025244" "70" "449" "0" "449" "0" "c.449G>A" "r.(?)" "p.(Ser150Asn)" "5" "0000905641" "00025244" "70" "449" "0" "449" "0" "c.449G>A" "r.(?)" "p.(Ser150Asn)" "5" "0000905642" "00025244" "70" "458" "0" "458" "0" "c.458C>T" "r.(?)" "p.(Ala153Val)" "5" "0000905643" "00025244" "70" "458" "0" "458" "0" "c.458C>T" "r.(?)" "p.(Ala153Val)" "5" "0000905644" "00025244" "70" "458" "0" "458" "0" "c.458C>T" "r.(?)" "p.(Ala153Val)" "5" "0000905645" "00025244" "70" "457" "0" "457" "0" "c.457G>A" "r.(?)" "p.(Ala153Thr)" "5" "0000905646" "00025244" "50" "-235" "0" "-235" "0" "c.-235G>T" "r.(=)" "p.(=)" "1" "0000905647" "00025244" "50" "-118" "0" "-118" "0" "c.-118G>A" "r.(=)" "p.(=)" "1" "0000905648" "00025244" "50" "53" "0" "53" "0" "c.53A>G" "r.?" "p.?" "1" "0000905649" "00025244" "50" "352" "0" "352" "0" "c.352C>T" "r.(=)" "p.(=)" "4" "0000905650" "00025244" "50" "513" "0" "513" "0" "c.513G>A" "r.(=)" "p.(=)" "5" "0000905651" "00025244" "50" "763" "0" "763" "0" "c.763G>A" "r.(?)" "p.(Asp255Asn)" "6" "0000905652" "00025244" "50" "816" "0" "816" "0" "c.816G>A" "r.(=)" "p.(=)" "7" "0000905653" "00025244" "50" "1177" "77" "1177" "77" "c.1177+77C>T" "r.(=)" "p.(=)" "8i" "0000905654" "00025244" "50" "1380" "-12" "1380" "-12" "c.1380-12T>G" "r.(=)" "p.(=)" "9i" "0000905655" "00025244" "10" "1267" "0" "1267" "0" "c.1267C>T" "r.(?)" "p.(His423Tyr)" "9" "0000905656" "00025244" "50" "1353" "0" "1353" "0" "c.1353T>C" "r.(=)" "p.(=)" "9" "0000905657" "00025244" "50" "1414" "0" "1414" "0" "c.1414A>G" "r.(?)" "p.(Lys472Glu)" "10" "0000905658" "00025244" "50" "1440" "0" "1440" "0" "c.1440A>G" "r.(=)" "p.(=)" "10" "0000905659" "00025244" "50" "1578" "0" "1578" "0" "c.1578T>C" "r.(=)" "p.(=)" "11" "0000905660" "00025244" "50" "1768" "0" "1768" "0" "c.*7A>G" "r.(=)" "p.(=)" "11" "0000905661" "00025244" "50" "1784" "0" "1796" "0" "c.*23_*35delinsTG" "r.?" "p.?" "" "0000905662" "00025244" "50" "-235" "0" "-235" "0" "c.-235G>T" "r.(=)" "p.(=)" "1" "0000905663" "00025244" "50" "53" "0" "53" "0" "c.53A>G" "r.?" "p.?" "1" "0000905664" "00025244" "50" "53" "0" "53" "0" "c.53A>G" "r.?" "p.?" "1" "0000905665" "00025244" "50" "1784" "0" "1796" "0" "c.*23_*35delinsTG" "r.?" "p.?" "" "0000905666" "00025244" "50" "-235" "0" "-235" "0" "c.-235G>T" "r.(=)" "p.(=)" "1" "0000905667" "00025244" "50" "53" "0" "53" "0" "c.53A>G" "r.?" "p.?" "1" "0000905668" "00025244" "50" "1784" "0" "1796" "0" "c.*23_*35delinsTG" "r.?" "p.?" "" "0000905669" "00025244" "70" "474" "1" "474" "1" "c.474+1G>A" "r.spl?" "p.?" "5" "0000905670" "00025244" "70" "474" "1" "474" "1" "c.474+1G>A" "r.spl?" "p.?" "5" "0000905671" "00025244" "70" "1147" "0" "1147" "0" "c.1147A>T" "r.(?)" "p.(Lys383*)" "8" "0000905672" "00025244" "70" "1051" "0" "1051" "0" "c.1051C>T" "r.(?)" "p.(Arg351*)" "8" "0000905673" "00025244" "70" "1051" "0" "1051" "0" "c.1051C>T" "r.(?)" "p.(Arg351*)" "8" "0000905674" "00025244" "70" "935" "0" "936" "19" "c.935_936+19del" "r.?" "p.?" "7" "0000905675" "00025244" "70" "181" "0" "183" "0" "c.181_183del" "r.?" "p.?" "2" "0000905676" "00025244" "90" "472" "0" "472" "0" "c.472T>C" "r.(?)" "p.(Cys158Arg)" "5" "0000905677" "00025244" "90" "458" "0" "458" "0" "c.458C>T" "r.(?)" "p.(Ala153Val)" "5" "0000905678" "00025244" "90" "433" "0" "433" "0" "c.433A>G" "r.(?)" "p.(Asn145Asp)" "4" "0000905679" "00025244" "90" "472" "0" "472" "0" "c.472T>C" "r.(?)" "p.(Cys158Arg)" "5" "0000905680" "00025244" "90" "433" "0" "433" "0" "c.433A>T" "r.(?)" "p.(Asn145Tyr)" "4" "0000905681" "00025244" "90" "247" "0" "247" "0" "c.247del" "r.(?)" "p.(Phe83Leufs*3)" "3" "0000905682" "00025244" "90" "247" "0" "247" "0" "c.247del" "r.(?)" "p.(Phe83Leufs*3)" "3" "0000915794" "00025244" "90" "458" "0" "458" "0" "c.458C>T" "r.(?)" "p.(Ala153Val)" "5" "0000915849" "00025244" "70" "422" "0" "422" "0" "c.422T>C" "r.(?)" "p.(Val141Ala)" "4" "0000915853" "00025244" "90" "458" "0" "458" "0" "c.458C>T" "r.(?)" "p.(Ala153Val)" "5" "0000916416" "00025244" "90" "458" "0" "458" "0" "c.458C>T" "r.(?)" "p.(Ala153Val)" "5" "0000929327" "00025244" "10" "352" "0" "352" "0" "c.352C>T" "r.(?)" "p.(=)" "" "0000929328" "00025244" "70" "440" "0" "440" "0" "c.440T>A" "r.(?)" "p.(Leu147His)" "" "0000939869" "00025244" "70" "618" "1" "618" "1" "c.618+1G>A" "r.spl?" "p.?" "" "0000948900" "00025244" "30" "618" "19" "618" "19" "c.618+19C>T" "r.(=)" "p.(=)" "" "0000958023" "00025244" "90" "458" "0" "458" "0" "c.458C>T" "r.(?)" "p.(Ala153Val)" "" "0000958024" "00025244" "90" "458" "0" "458" "0" "c.458C>T" "r.(?)" "p.(Ala153Val)" "" "0000958229" "00025244" "70" "969" "0" "969" "0" "c.969del" "r.(?)" "p.(Phe323LeufsTer15)" "" "0000958929" "00025244" "50" "797" "0" "797" "0" "c.797G>A" "r.(?)" "p.(Gly266Glu)" "" "0000996430" "00025244" "70" "422" "0" "422" "0" "c.422T>C" "r.(?)" "p.(Val141Ala)" "" "0000996431" "00025244" "50" "665" "0" "665" "0" "c.665G>A" "r.(?)" "p.(Arg222His)" "" "0000996432" "00025244" "30" "1007" "0" "1007" "0" "c.1007A>T" "r.(?)" "p.(Asn336Ile)" "" "0001022316" "00025244" "70" "433" "0" "433" "0" "c.433A>G" "r.(?)" "p.(Asn145Asp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 89 "{{screeningid}}" "{{variantid}}" "0000050327" "0000079307" "0000078882" "0000125890" "0000078883" "0000125891" "0000078884" "0000125892" "0000078885" "0000125893" "0000078886" "0000125894" "0000233941" "0000476649" "0000295584" "0000652273" "0000309663" "0000684536" "0000310358" "0000685269" "0000329247" "0000713370" "0000329331" "0000713454" "0000329552" "0000713675" "0000334730" "0000732737" "0000334731" "0000732738" "0000334812" "0000732819" "0000334813" "0000732820" "0000373310" "0000783282" "0000378015" "0000790674" "0000378021" "0000790681" "0000378923" "0000791913" "0000380852" "0000794065" "0000380856" "0000794071" "0000382997" "0000796975" "0000387788" "0000815946" "0000388202" "0000816661" "0000388203" "0000816662" "0000388204" "0000816663" "0000390416" "0000819761" "0000390849" "0000820194" "0000391535" "0000821284" "0000391536" "0000821285" "0000391537" "0000821286" "0000395727" "0000827129" "0000395852" "0000827288" "0000395852" "0000827289" "0000428023" "0000905640" "0000428024" "0000905641" "0000428025" "0000905642" "0000428026" "0000905643" "0000428027" "0000905644" "0000428028" "0000905645" "0000428029" "0000905646" "0000428030" "0000905647" "0000428031" "0000905648" "0000428032" "0000905649" "0000428033" "0000905650" "0000428034" "0000905651" "0000428035" "0000905652" "0000428036" "0000905653" "0000428037" "0000905654" "0000428038" "0000905655" "0000428039" "0000905656" "0000428040" "0000905657" "0000428041" "0000905658" "0000428042" "0000905659" "0000428042" "0000905660" "0000428043" "0000905661" "0000428044" "0000905662" "0000428044" "0000905663" "0000428045" "0000905664" "0000428045" "0000905665" "0000428046" "0000905666" "0000428046" "0000905667" "0000428046" "0000905668" "0000428047" "0000905669" "0000428048" "0000905670" "0000428049" "0000905671" "0000428050" "0000905672" "0000428051" "0000905673" "0000428052" "0000905674" "0000428053" "0000905675" "0000428053" "0000905676" "0000428054" "0000905677" "0000428055" "0000905678" "0000428056" "0000905679" "0000428057" "0000905680" "0000428058" "0000905681" "0000428059" "0000905682" "0000430905" "0000915794" "0000430945" "0000915849" "0000430949" "0000915853" "0000431323" "0000916416" "0000441927" "0000939869" "0000448537" "0000958023" "0000448538" "0000958024" "0000448743" "0000958229" "0000449162" "0000958929" "0000462765" "0001022316"