### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CLPP) # 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}}" "CLPP" "ClpP caseinolytic peptidase, ATP-dependent, proteolytic subunit homolog (E. coli)" "19" "p13.3" "unknown" "NC_000019.9" "UD_136086282114" "" "http://www.LOVD.nl/CLPP" "" "1" "2084" "8192" "601119" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/CLPP_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-12-18 07:19:16" "00006" "2023-06-28 09:21:56" ## 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}}" "00005327" "CLPP" "ClpP caseinolytic peptidase, ATP-dependent, proteolytic subunit homolog (E. coli)" "001" "NM_006012.2" "" "NP_006003.1" "" "" "" "-123" "1028" "834" "6361463" "6368915" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "00616" "PRLTS" "Perrault syndrome" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-01-06 10:12:39" "03558" "PRLTS3;DFNB81" "Perrault syndrome, type 3 (PRLTS3; DFNB81)" "AR" "614129" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "CLPP" "00616" "CLPP" "03558" ## Individuals ## Do not remove or alter this header ## ## Count = 15 "{{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}}" "00056386" "" "" "" "1" "" "01491" "{PMID:Demain 2016:26970254}, {DOI:Demain 2016:10.1111/cge.12776}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "Arab" "" "00081706" "" "" "" "1" "" "01791" "manuscript submitted, PMID will become be available" "consanguineous family, consisting of index child and brother who were diagnosed with Perrault syndrome type 3 with neurological symptoms (WES approach), one healthy sibling" "M" "yes" "Morocco" "" "0" "yes, pedigree" "only supportive treatment" "African" "" "00081707" "" "" "" "1" "" "01791" "manuscript submitted, PMID will become available" "single index patient from non-consanguineous parents was diagnosed with Perrault syndrome type 3, involving neurological symptoms. Patient was identified by screening the Amsterdam brain-MRI database containing over 3000 leukoencephalopathy cases." "M" "no" "" "" "0" "pedigree" "no" "white" "" "00081708" "" "" "" "1" "" "01791" "PMID will become available" "single index patient from non-consanguineous parents was diagnosed with Perrault syndrome type 3, involving neurological symptoms. Patient was identified by screening the Amsterdam brain-MRI database containing over 3000 leukoencephalopathy cases." "M" "no" "" "" "0" "" "no" "white" "" "00087075" "" "" "" "3" "" "00006" "{PMID:Jenkinson 2013:23541340}, {DOI:Jenkinson 2013:10.1016/j.ajhg.2013.02.013}" "2-generation family, 3 affecteds (3F), unaffected heterozygous carrier parents" "F" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistani" "" "00087076" "" "" "" "4" "" "00006" "{PMID:Jenkinson 2013:23541340}, {DOI:Jenkinson 2013:10.1016/j.ajhg.2013.02.013}" "2-generation family, 4 affected sisters, unaffected heterozygous carrier parents" "F" "yes" "Pakistan" "" "0" "" "" "" "" "00087077" "" "" "" "3" "" "00006" "{PMID:Jenkinson 2013:23541340}, {DOI:Jenkinson 2013:10.1016/j.ajhg.2013.02.013}" "4-generation family, 3 affecteds (2F, M), unaffected heterozygous carrier parents" "F;M" "yes" "Pakistan" "" "0" "" "" "" "" "00087079" "" "" "" "2" "" "00006" "{PMID:Lerat 2016:27650058}, {DOI:Lerat 2016:10.1002/humu.23120}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "yes" "Algeria" "" "0" "" "" "" "" "00087080" "" "" "" "3" "" "00006" "{PMID:Ahmed 2015:25956234}, {DOI:Ahmed 2015:10.1016/j.jns.2015.04.038}" "5-generation family, 3 affected sibs (F, 2M), unaffected heterozygous carrier parents" "F;M" "" "Saudi Arabia" "" "0" "" "" "" "" "00087081" "" "" "" "2" "" "00006" "{PMID:Dursun 2016:27087618}, {DOI:Dursun 2016:10.4274/jcrpe.2717}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "F;M" "yes" "Turkey" "" "0" "" "" "" "" "00285270" "" "" "" "1" "" "00004" "{PMID:Jenkinson 2013:23541340}, {PMID:Szafranski 2015:24824130}" "" "" "" "" "" "0" "" "" "" "" "00285271" "" "" "" "1" "" "00004" "{PMID:Szafranski 2015:24824130}, {PMID:Jenkinson 2013:23541340}, {PMID:Jenkinson 2012:22037954}" "" "" "" "" "" "0" "" "" "" "" "00285272" "" "" "" "1" "" "00004" "{PMID:Ain 2007:17690910}, {PMID:Jenkinson 2013:23541340}, {PMID:Rehman 2011:21660509}, {PMID:Szafranski 2015:24824130}" "" "" "" "" "" "0" "" "" "" "" "00428056" "" "" "" "1" "" "00006" "{PMID:Kumar 2022:35091571}, {PMID:Yepez 2022:35379322}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Turkey" "" "0" "" "" "" "Pat58955;R96820" "00435262" "" "" "" "1" "" "01164" "" "" "F" "yes" "? (unknown)" "" "0" "" "" "Arabian" "261306" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 15 "{{individualid}}" "{{diseaseid}}" "00056386" "03558" "00081706" "03558" "00081707" "03558" "00081708" "03558" "00087075" "00616" "00087076" "00616" "00087077" "00616" "00087079" "00616" "00087080" "00616" "00087081" "00616" "00285270" "00616" "00285271" "00616" "00285272" "00616" "00428056" "00198" "00435262" "03558" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00616, 03558 ## Count = 15 "{{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}}" "0000043005" "03558" "00056386" "01491" "Familial, autosomal recessive" "" "see paper; ..., Perrault syndrome (PRTLS)" "" "" "" "" "" "" "" "" "" "" "" "0000061345" "03558" "00081707" "01791" "Familial, autosomal recessive" "" "sensorineural hearing loss (HP:0000407)\r\npsychomotor retardation (HP:0001263)\r\nwhite matter abnormalities, periventricular (MRI) (HP:0002500), (HP:0002518)\r\nspastic ataxia (HP:0002497)\r\nsensorimotor neuropathy (HP:0007141)\r\nstunted growth (HP:0001510)" "01y" "" "1y" "" "" "" "" "" "" "" "" "0000061346" "03558" "00081706" "01791" "Familial, autosomal recessive" "<01y" "Sensorineural hearing loss (HP:0000407)\r\nepilepsy, seizures (HP:0001250)\r\nWhite matter affected (MRI), periventricular, (HP:0002500),(HP:0002518)\r\nspastic ataxia (HP:0002497)\r\npsychomotor retardation (HP:0001263)\r\nautism (HP:0000717)" "01y" "01y" "" "" "" "" "" "" "" "" "" "0000061347" "03558" "00081708" "01791" "Familial, autosomal recessive" "" "sensorineural hearingloss (HP:0000408)\r\npsychomotor delay (HP:0001263)\r\nspastic diplegia (HP:0001264)\r\nmicrocephaly (HP:0000252)\r\ngrowth delay (HP:0001510)" "03y" "" "3y" "" "" "" "" "" "" "" "" "0000066676" "00616" "00087075" "00006" "Familial, autosomal recessive" "" "see paper; profound congenital sensorineural hearing loss, premature ovarian failure, short stature, microcephaly, seizures, moderate learning difficulties, truncal/cerebellar ataxia with signs of lower limb spasticity, ..." "" "" "" "" "" "" "" "" "" "" "" "0000066677" "00616" "00087076" "00006" "Familial, autosomal dominant" "" "see paper; hearing loss, primary amenorrhea, hypogonadism, ..." "" "" "" "" "" "" "" "" "" "" "" "0000066678" "00616" "00087077" "00006" "Familial, autosomal recessive" "" "see paper; profound congenital sensorineural hearing loss, no additional self-reported medical problems; formal evaluation hormone profiles not possible, ..." "" "" "" "" "" "" "" "" "" "" "" "0000066679" "00616" "00087079" "00006" "Familial, autosomal dominant" "" "severe deafness, age onset 3y/6y resp., progressive, Amenorrhea II (age onset 22y/33y), no neurological symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000066680" "00616" "00087080" "00006" "Familial, autosomal recessive" "" "see paper; profound hearing loss, brain atrophy, lower limb spasticity in early childhood, ..." "" "" "" "" "" "" "" "" "" "" "" "0000066681" "00616" "00087081" "00006" "Familial, autosomal recessive" "" "no neurological findings, sensory neuronal hearing loss; female only had secondary amenorrhea, gonadal dysgenesis" "" "" "" "" "" "" "" "" "" "" "" "0000217859" "00616" "00285270" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Perrault syndrome" "" "0000217860" "00616" "00285271" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Perrault syndrome" "" "0000217861" "00616" "00285272" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Perrault syndrome" "" "0000319003" "00198" "00428056" "00006" "Familial, autosomal recessive" "05y" "uneventful pregnancy, born at term, weight 2755 g, length 49 cm, OFC 37 cm; 1w-muscular weakness; 2m- microcephaly (<3rd percentile), generalized muscular hypotonia, ECG mild hypertrophic cardiomyopathy; metabolic acidosis, elevated lactate level; MRI brain 3m-normal; progressive developmental delay, persistent microcephaly, deafness; chronic feeding difficulties; epilepsy (West-syndrome); 5y-microcephaly, deafness, severe psychomotor retardation, moderate left ventricular hypertrophy" "" "" "" "" "" "" "" "" "" "muscular weakness" "" "0000325459" "03558" "00435262" "01164" "Familial, autosomal recessive" "17y" "Hearing impairment, Intellectual disability, Neurodevelopmental delay, Short stature, Spasticity" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 16 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000056344" "00056386" "1" "01491" "01491" "2015-12-17 12:30:05" "" "" "SEQ-NG" "DNA" "" "" "0000056345" "00056386" "1" "01491" "01491" "2015-12-17 12:31:36" "" "" "SEQ" "DNA" "" "" "0000081836" "00081706" "1" "01791" "01791" "2016-10-19 11:21:28" "01791" "2016-10-20 13:20:14" "SEQ-NG-I" "DNA" "Blood (DNA)" "" "0000081837" "00081707" "1" "01791" "01791" "2016-10-19 11:50:13" "01791" "2016-10-20 14:02:33" "SEQ" "DNA" "Blood (DNA)" "" "0000081838" "00081708" "1" "01791" "01791" "2016-10-19 12:02:55" "01791" "2016-10-21 10:17:16" "SEQ" "DNA" "Blood (DNA)" "" "0000087212" "00087075" "1" "00006" "00006" "2016-11-10 10:17:40" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000087213" "00087076" "1" "00006" "00006" "2016-11-10 10:25:03" "" "" "SEQ" "DNA" "" "" "0000087214" "00087077" "1" "00006" "00006" "2016-11-10 10:39:47" "" "" "SEQ" "DNA" "" "" "0000087216" "00087079" "1" "00006" "00006" "2016-11-10 11:35:11" "" "" "SEQ" "DNA" "" "" "0000087217" "00087080" "1" "00006" "00006" "2016-11-10 11:41:59" "00006" "2016-11-10 11:46:33" "SEQ;SEQ-NG" "DNA" "" "" "0000087218" "00087081" "1" "00006" "00006" "2016-11-10 12:05:55" "" "" "arraySNP;SEQ" "DNA" "" "" "0000286420" "00285270" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286421" "00285271" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286422" "00285272" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000429468" "00428056" "1" "00006" "00006" "2022-12-20 09:11:06" "00006" "2022-12-20 10:54:34" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WGS" "0000436742" "00435262" "1" "01164" "01164" "2023-06-27 14:04:53" "" "" "SEQ-NG-I" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{geneid}}" "0000056345" "CLPP" "0000081837" "CLPP" "0000081838" "CLPP" "0000087212" "CLPP" "0000087213" "CLPP" "0000087214" "CLPP" "0000087216" "CLPP" "0000087217" "CLPP" "0000087217" "HSD17B4" "0000087218" "CLPP" "0000286420" "CLPP" "0000286421" "CLPP" "0000286422" "CLPP" "0000429468" "CLPP" "0000436742" "CLPP" ## 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 = 24 "{{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}}" "0000086584" "3" "70" "19" "6364525" "6364525" "subst" "0" "01491" "CLPP_000001" "g.6364525T>C" "" "{PMID:Demain 2016:26970254}, {DOI:Demain 2016:10.1111/cge.12776}" "" "" "" "Germline" "" "" "0" "" "" "g.6364514T>C" "" "likely pathogenic" "" "0000132516" "3" "90" "19" "6361606" "6361606" "del" "0" "01791" "CLPP_000002" "g.6361606del" "1/70 cases" "soon available" "" "" "variant causes frameshift which affects 10th aa of exon 1 giving non-sense change in exon 3; nonsense mediated decay of CLPP mRNA was confirmed (qPCR)" "Germline" "yes" "" "0" "" "" "g.6361595del" "" "pathogenic" "" "0000132517" "11" "90" "19" "6364579" "6364579" "subst" "1.23348E-5" "01791" "CLPP_000003" "g.6364579G>A" "1/3000 cases leukoencephalopathy" "PMID will soon be available" "" "" "in silico protein modeling confirmed deletriuos effects variant" "Germline" "yes" "" "0" "" "" "g.6364568G>A" "" "pathogenic" "" "0000132518" "21" "90" "19" "6364520" "6364520" "subst" "0" "01791" "CLPP_000004" "g.6364520C>T" "1/3000 cases leukoencephalopathy" "PMID will become available (submitted)" "" "" "" "Germline" "yes" "" "0" "" "" "g.6364509C>T" "" "pathogenic" "" "0000132534" "21" "90" "19" "1" "6368548" "" "0" "01791" "CLPP_000005" "g.(?_6368548)del" "1/3000 cases leukoencephalopathy" "" "" "" "large genomic deletion covering part of the CLPP gene (confimed by qPCR)" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000132535" "11" "90" "19" "6361463" "6368915" "" "0" "01791" "CLPP_000006" "g.(?_6361463)_(6368915_?)del" "1/3000 cases leukoencephalopathy" "" "" "" "deletion covering part of the CLPP gene" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000139987" "3" "90" "19" "6364528" "6364528" "subst" "0" "00006" "CLPP_000007" "g.6364528A>C" "" "{PMID:Jenkinson 2013:23541340}, {DOI:Jenkinson 2013:10.1016/j.ajhg.2013.02.013}, {OMIM601119:0001}" "" "" "not in 386 control chromosomes" "Germline" "yes" "rs398123033" "0" "" "" "g.6364517A>C" "" "pathogenic" "" "0000139988" "3" "90" "19" "6364535" "6364535" "subst" "0" "00006" "CLPP_000008" "g.6364535G>C" "" "{PMID:Jenkinson 2013:23541340}, {DOI:Jenkinson 2013:10.1016/j.ajhg.2013.02.013}, {OMIM601119:0002}" "" "" "not in 966 control chromosomes" "Germline" "yes" "rs398123034" "0" "" "" "g.6364524G>C" "" "pathogenic" "" "0000139989" "0" "90" "19" "6361955" "6361955" "subst" "0" "00006" "CLPP_000009" "g.6361955A>G" "" "{PMID:Jenkinson 2013:23541340}, {DOI:Jenkinson 2013:10.1016/j.ajhg.2013.02.013}, {OMIM601119:0003}" "" "" "not in 772 control chromosomes" "Germline" "yes" "rs398123035" "0" "" "" "g.6361944A>G" "" "pathogenic" "" "0000139990" "0" "90" "19" "6361955" "6361955" "subst" "0" "00006" "CLPP_000009" "g.6361955A>G" "" "{PMID:Jenkinson 2013:23541340}, {DOI:Jenkinson 2013:10.1016/j.ajhg.2013.02.013}" "" "" "in vitro COS7 cell expression cloning; 23/37 clones normal splicing, 11/37 retained intron 2, 3/37 other aberrant transcripts\r\nVariant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "In vitro (cloned)" "-" "" "0" "" "" "g.6361944A>G" "" "NA" "" "0000139991" "0" "90" "19" "6361955" "6361955" "subst" "0" "00006" "CLPP_000009" "g.6361955A>G" "" "{PMID:Jenkinson 2013:23541340}, {DOI:Jenkinson 2013:10.1016/j.ajhg.2013.02.013}" "" "" "in vitro COS7 cell expression cloning; 41/49 clones retained intron 2, 2/49 used cryptic donor\r\nsite (c.255), 5/49 aberrant splicing (excl. either exon 2 or exon 3, most likely artifacts), 1/49 normal splicing" "In vitro (cloned)" "-" "" "0" "" "" "g.6361944A>G" "" "NA" "" "0000139992" "3" "90" "19" "6364534" "6364534" "subst" "0" "00006" "CLPP_000010" "g.6364534T>A" "" "{PMID:Lerat 2016:27650058}, {DOI:Lerat 2016:10.1002/humu.23120}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6364523T>A" "" "pathogenic" "" "0000139993" "3" "90" "19" "6368572" "6368572" "subst" "0" "00006" "CLPP_000011" "g.6368572T>G" "" "{PMID:Ahmed 2015:25956234}, {DOI:Ahmed 2015:10.1016/j.jns.2015.04.038}" "" "" "homozygosity mapping and exome sequencing; not in 224 control chromosomes" "Germline" "yes" "" "0" "" "" "g.6368561T>G" "" "pathogenic" "" "0000139996" "3" "90" "19" "6366337" "6366337" "subst" "0" "00006" "CLPP_000012" "g.6366337C>G" "" "{PMID:Dursun 2016:27087618}, {DOI:Dursun 2016:10.4274/jcrpe.2717}" "" "" "homozygosity mapping (SNP-array)" "Germline" "yes" "" "0" "" "" "g.6366326C>G" "" "pathogenic" "" "0000262258" "0" "50" "19" "6372980" "6372980" "subst" "0" "01943" "ALKBH7_000001" "g.6372980G>A" "" "" "" "ALKBH7(NM_032306.4):c.149G>A (p.R50Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6372969G>A" "" "VUS" "" "0000568625" "0" "30" "19" "6366382" "6366382" "subst" "0" "01943" "CLPP_000013" "g.6366382C>T" "" "" "" "CLPP(NM_006012.2):c.661+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6366371C>T" "" "likely benign" "" "0000617914" "0" "30" "19" "6368677" "6368677" "subst" "1.02466E-5" "01943" "ALKBH7_000003" "g.6368677G>A" "" "" "" "CLPP(NM_006012.2):c.790G>A (p.V264I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6368666G>A" "" "likely benign" "" "0000642162" "1" "99" "19" "6361955" "6361955" "subst" "0" "00004" "CLPP_000009" "g.6361955A>G" "" "{DB:DVD}, {PMID:Jenkinson 2013:23541340}, {PMID:Szafranski 2015:24824130}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.6361944A>G" "" "pathogenic" "" "0000642163" "1" "99" "19" "6364528" "6364528" "subst" "0" "00004" "CLPP_000007" "g.6364528A>C" "" "{DB:DVD}, {PMID:Szafranski 2015:24824130}, {PMID:Jenkinson 2013:23541340}, {PMID:Jenkinson 2012:22037954}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.6364517A>C" "" "pathogenic" "" "0000642164" "1" "99" "19" "6364535" "6364535" "subst" "0" "00004" "CLPP_000008" "g.6364535G>C" "" "{DB:DVD}, {PMID:Ain 2007:17690910}, {PMID:Jenkinson 2013:23541340}, {PMID:Rehman 2011:21660509}, {PMID:Szafranski 2015:24824130}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.6364524G>C" "" "pathogenic" "" "0000681526" "0" "30" "19" "6362492" "6362492" "subst" "9.74611E-5" "01943" "CLPP_000014" "g.6362492G>A" "" "" "" "CLPP(NM_006012.2):c.306G>A (p.Q102=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727553" "0" "50" "19" "6368554" "6368554" "subst" "6.50925E-5" "01943" "ALKBH7_000004" "g.6368554G>A" "" "" "" "CLPP(NM_006012.2):c.667G>A (p.A223T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000908968" "3" "90" "19" "6366374" "6366374" "subst" "0" "00006" "CLPP_000015" "g.6366374G>A" "" "{PMID:Kremer 2017:28604674}, {PMID:Yepez 2022:35379322}" "" "" "" "Germline" "" "" "0" "" "" "g.6366363G>A" "" "pathogenic (recessive)" "" "0000927878" "3" "70" "19" "6366267" "6366267" "subst" "0" "01164" "CLPP_000016" "g.6366267A>G" "" "" "" "" "ACMG: PVS1, PM2_Sup" "Germline" "-" "" "0" "" "" "g.6366256A>G" "" "likely pathogenic (recessive)" "ACMG" ## 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 CLPP ## Count = 24 "{{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}}" "0000086584" "00005327" "70" "430" "0" "430" "0" "c.430T>C" "r.(430u>c)" "p.(Cys144Arg)" "4" "0000132516" "00005327" "90" "21" "0" "21" "0" "c.21del" "r.0?" "p.(Ala10Profs*117)" "1" "0000132517" "00005327" "90" "484" "0" "484" "0" "c.484G>A" "r.(?)" "p.(Gly162Ser)" "4" "0000132518" "00005327" "90" "425" "0" "425" "0" "c.425C>T" "r.(?)" "p.(Pro142Leu)" "4" "0000132534" "00005327" "90" "-8388608" "0" "662" "-1" "c.(?_662-1)del" "r.?" "p.?" "?" "0000132535" "00005327" "90" "-123" "0" "1028" "0" "c.(?_-123)_(*194_?)del" "r.?" "p.?" "?" "0000139987" "00005327" "90" "433" "0" "433" "0" "c.433A>C" "r.(?)" "p.(Thr145Pro)" "4" "0000139988" "00005327" "90" "440" "0" "440" "0" "c.440G>C" "r.(440g>c)" "p.(Cys147Ser)" "4" "0000139989" "00005327" "90" "270" "4" "270" "4" "c.270+4A>G" "r.spl?" "p.?" "2i" "0000139990" "00005327" "90" "270" "1" "270" "1" "c.270+1G>A" "r.[270_271insains270+2_271-1, =, ?]" "p.[Ile91Valfs*39, =, ?]" "2i" "0000139991" "00005327" "90" "270" "4" "270" "4" "c.270+4A>G" "r.[270_271insgtggins270+5_271-1, 255_270del]]" "p.[Ile91Valfs*39, Cys246Serfs*36]" "2i" "0000139992" "00005327" "90" "439" "0" "439" "0" "c.439T>A" "r.(?)" "p.(Cys147Ser)" "4" "0000139993" "00005327" "90" "685" "0" "685" "0" "c.685T>G" "r.(685u>g)" "p.(Tyr229Asp)" "6" "0000139996" "00005327" "90" "624" "0" "624" "0" "c.624C>G" "r.(624c>g)" "p.(Ile208Met)" "5" "0000262258" "00005327" "50" "5093" "0" "5093" "0" "c.*4259G>A" "r.(=)" "p.(=)" "" "0000568625" "00005327" "30" "661" "8" "661" "8" "c.661+8C>T" "r.(=)" "p.(=)" "" "0000617914" "00005327" "30" "790" "0" "790" "0" "c.790G>A" "r.(?)" "p.(Val264Ile)" "" "0000642162" "00005327" "99" "270" "4" "270" "4" "c.270+4A>G" "r.spl?" "p.?" "2i" "0000642163" "00005327" "99" "433" "0" "433" "0" "c.433A>C" "r.(?)" "p.(Thr145Pro)" "4" "0000642164" "00005327" "99" "440" "0" "440" "0" "c.440G>C" "r.(?)" "p.(Cys147Ser)" "4" "0000681526" "00005327" "30" "306" "0" "306" "0" "c.306G>A" "r.(?)" "p.(Gln102=)" "" "0000727553" "00005327" "50" "667" "0" "667" "0" "c.667G>A" "r.(?)" "p.(Ala223Thr)" "" "0000908968" "00005327" "90" "661" "0" "661" "0" "c.661G>A" "r.[556_661del,=,655_661del]" "p.[Gly186Argfs*10,Glu221Lys,Val219Argfs*10]" "5" "0000927878" "00005327" "70" "556" "-2" "556" "-2" "c.556-2A>G" "r.spl" "p.?" "4i" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 18 "{{screeningid}}" "{{variantid}}" "0000056344" "0000086584" "0000056345" "0000086584" "0000081836" "0000132516" "0000081837" "0000132517" "0000081837" "0000132534" "0000081838" "0000132518" "0000081838" "0000132535" "0000087212" "0000139987" "0000087213" "0000139988" "0000087214" "0000139989" "0000087216" "0000139992" "0000087217" "0000139993" "0000087218" "0000139996" "0000286420" "0000642162" "0000286421" "0000642163" "0000286422" "0000642164" "0000429468" "0000908968" "0000436742" "0000927878"