### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RILPL1) # 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}}" "RILPL1" "Rab interacting lysosomal protein-like 1" "12" "q24.31" "unknown" "NC_000012.11" "UD_136090590212" "" "https://www.LOVD.nl/RILPL1" "" "1" "26814" "353116" "614092" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-02-13 13:52:19" "00006" "2022-11-27 16:29:07" ## 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}}" "00017770" "RILPL1" "Rab interacting lysosomal protein-like 1" "001" "NM_178314.3" "" "NP_847884.2" "" "" "" "-236" "2388" "1212" "124018265" "123955909" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "05741" "OPDM" "myopathy, oculopharyngodistal (OPDM)" "" "" "" "" "" "00006" "2020-05-14 18:50:02" "" "" "06978" "OPDM4" "myopathy, oculopharyngodistal, type 4" "AD" "619790" "" "" "" "00006" "2022-11-27 16:03:51" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "RILPL1" "05741" "RILPL1" "06978" ## Individuals ## Do not remove or alter this header ## ## Count = 34 "{{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}}" "00296733" "" "" "" "1" "" "00006" "{PMID:Arno 2016:27889058}" "2-generation family, 1 affected, unaffected parents" "M" "no" "" "" "0" "" "" "Asia" "EG76;FamAPatII1" "00307082" "" "" "" "1" "" "00006" "{PMID:Motta 2020:32721402}, {DOI:Motta 2020:10.1016/j.ajhg.2020.06.018}" "" "M" "no" "Spain" "" "0" "" "" "white" "Pat7" "00402876" "" "" "" "3" "" "00006" "{PMID:Yu 2022:35148830}" "3-generation family, 3 affected (2F, M)" "F" "" "China" "" "0" "" "" "" "Fam1PatIII1" "00402877" "" "" "00402876" "1" "" "00006" "{PMID:Yu 2022:35148830}" "mother" "F" "" "China" "" "0" "" "" "" "FamPatII1" "00402878" "" "" "00402876" "1" "" "00006" "{PMID:Yu 2022:35148830}" "uncle" "M" "" "China" "" "0" "" "" "" "FamPatII2" "00402880" "" "" "" "1" "" "00006" "{PMID:Yu 2022:35148830}" "" "M" "" "China" "" "0" "" "" "" "PatS1" "00402881" "" "" "" "9" "" "00006" "{PMID:Yu 2022:35148830}" "analysis 20 OPDM-affected individuals with unknown genetic cause" "" "" "China" "" "0" "" "" "" "patients" "00402882" "" "" "" "1" "" "00006" "{PMID:Yu 2022:35148830}" "" "" "" "China" "" "0" "" "" "" "control" "00402883" "" "" "" "1" "" "00006" "{PMID:Yu 2022:35148830}" "" "" "" "China" "" "0" "" "" "" "control" "00402884" "" "" "" "1" "" "00006" "{PMID:Yu 2022:35148830}" "" "" "" "China" "" "0" "" "" "" "control" "00402885" "" "" "" "1" "" "00006" "{PMID:Yu 2022:35148830}" "" "" "" "China" "" "0" "" "" "" "control" "00402886" "" "" "" "1" "" "00006" "{PMID:Yu 2022:35148830}" "" "" "" "China" "" "0" "" "" "" "control" "00402887" "" "" "" "1" "" "00006" "{PMID:Yu 2022:35148830}" "" "" "" "China" "" "0" "" "" "" "control" "00402888" "" "" "" "1" "" "00006" "{PMID:Yu 2022:35148830}" "" "" "" "China" "" "0" "" "" "" "control" "00426072" "" "" "" "6" "" "00006" "{PMID:Zeng 2022:35700120}" "5-generation family, 6 affected (4F, 2M)" "F" "" "China" "" "0" "" "" "" "Fam1PatIII7" "00426073" "" "" "00426072" "1" "" "00006" "{PMID:Zeng 2022:35700120}" "relative" "F" "" "China" "" "0" "" "" "" "Fam1PatIV3" "00426074" "" "" "00426072" "1" "" "00006" "{PMID:Zeng 2022:35700120}" "relative" "M" "" "China" "" "0" "" "" "" "Fam1PatIV4" "00426075" "" "" "00426072" "1" "" "00006" "{PMID:Zeng 2022:35700120}" "relative" "F" "" "China" "" "0" "" "" "" "Fam1PatIV5" "00426076" "" "" "" "2" "" "00006" "{PMID:Zeng 2022:35700120}" "4-generation family, 2 affected brothers" "M" "" "China" "" "0" "" "" "" "Fam2PatIII3" "00426077" "" "" "00426076" "1" "" "00006" "{PMID:Zeng 2022:35700120}" "brother" "M" "" "China" "" "0" "" "" "" "Fam2PatIII4" "00426078" "" "" "" "1" "" "00006" "{PMID:Zeng 2022:35700120}" "analysis 5008 control chromosomes" "F;M" "" "" "" "0" "" "" "" "controls" "00426079" "" "" "" "2" "" "00006" "{PMID:Zeng 2022:35700120}" "analysis 5008 control chromosomes" "F;M" "" "" "" "0" "" "" "" "controls" "00426080" "" "" "" "6" "" "00006" "{PMID:Zeng 2022:35700120}" "analysis 5008 control chromosomes" "F;M" "" "" "" "0" "" "" "" "controls" "00426081" "" "" "" "11" "" "00006" "{PMID:Zeng 2022:35700120}" "analysis 5008 control chromosomes" "F;M" "" "" "" "0" "" "" "" "controls" "00426082" "" "" "" "4763" "" "00006" "{PMID:Zeng 2022:35700120}" "analysis 5008 control chromosomes" "F;M" "" "" "" "0" "" "" "" "controls" "00426083" "" "" "" "71" "" "00006" "{PMID:Zeng 2022:35700120}" "analysis 5008 control chromosomes" "F;M" "" "" "" "0" "" "" "" "controls" "00426084" "" "" "" "112" "" "00006" "{PMID:Zeng 2022:35700120}" "analysis 5008 control chromosomes" "F;M" "" "" "" "0" "" "" "" "controls" "00426085" "" "" "" "24" "" "00006" "{PMID:Zeng 2022:35700120}" "analysis 5008 control chromosomes" "F;M" "" "" "" "0" "" "" "" "controls" "00426086" "" "" "" "3" "" "00006" "{PMID:Zeng 2022:35700120}" "analysis 5008 control chromosomes" "F;M" "" "" "" "0" "" "" "" "controls" "00426087" "" "" "" "2" "" "00006" "{PMID:Zeng 2022:35700120}" "analysis 5008 control chromosomes" "F;M" "" "" "" "0" "" "" "" "controls" "00426088" "" "" "" "10" "" "00006" "{PMID:Zeng 2022:35700120}" "analysis 5008 control chromosomes" "F;M" "" "" "" "0" "" "" "" "controls" "00426089" "" "" "" "1" "" "00006" "{PMID:Zeng 2022:35700120}" "analysis 5008 control chromosomes" "F;M" "" "" "" "0" "" "" "" "controls" "00426090" "" "" "" "1" "" "00006" "{PMID:Zeng 2022:35700120}" "analysis 5008 control chromosomes" "F;M" "" "" "" "0" "" "" "" "controls" "00426091" "" "" "" "1" "" "00006" "{PMID:Zeng 2022:35700120}" "analysis 5008 control chromosomes" "F;M" "" "" "" "0" "" "" "" "controls" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 34 "{{individualid}}" "{{diseaseid}}" "00296733" "04214" "00307082" "05611" "00402876" "05741" "00402877" "00198" "00402878" "05741" "00402880" "05741" "00402881" "05741" "00402882" "00000" "00402883" "00000" "00402884" "00000" "00402885" "00000" "00402886" "00000" "00402887" "00000" "00402888" "00000" "00426072" "05741" "00426073" "05741" "00426074" "05741" "00426075" "05741" "00426076" "05741" "00426077" "05741" "00426078" "00000" "00426079" "00000" "00426080" "00000" "00426081" "00000" "00426082" "00000" "00426083" "00000" "00426084" "00000" "00426085" "00000" "00426086" "00000" "00426087" "00000" "00426088" "00000" "00426089" "00000" "00426090" "00000" "00426091" "00000" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 04214, 05611, 05741, 06978 ## Count = 12 "{{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}}" "0000224134" "04214" "00296733" "00006" "Familial, autosomal recessive" "35y" "5y-nyctalopia (HP:0000662), 18y-field constriction (HP:0001133); fundus peripheral retinal atrophy (HP:0200070), vessel attenuation (HP:?), bony spicules (HP:0007737); 20y-ERG photopic responses severely reduced; Goldmann visual fields reduced to 30 degrees with preserved temporal islands, early posterior subcapsular cataract (HP:0007787)" "" "" "" "" "" "" "" "" "RP77" "retinitis pigmentosa" "" "0000232900" "05611" "00307082" "00006" "Familial, autosomal recessive" "8y" "birth height 47 cm (-1.52 SD), weight 2,170 g (-2.75 SD), OFC 33.5 cm (-1.11 SD); height 111 cm (-2.88 SD), weight 18 kg (-2.65 SD), OFC 48 cm (-3.25 SD); developmental delay; intellectual disability; speech dealy; severe attention deficit hyperactivity disorder; learning disorder; hypotonia; 5y-epilepsy, generalized seizures, controlled with valproic acid; no cardiac defect; hyperlaxity, short and puffy hands and feet, tapered fingers, mild metatarsus varus; prominent metopic ridge, bitemporal narrowing, mild hypertelorism, downslanted palpebral fissures, ptosis, low-set posteriorly rotated ears, wide nasal bridge, high arched palate, widely spaced teeth, pointed chin, low posterior hairline, webbed/short neck; no skin anomalies; no cryptorchidism; no GER; no recurrent infections; no lymphatic involvement; no bleeding, no easy bruising; no hearing problems; normal MRI/CT" "" "" "" "" "" "" "" "" "" "neurodegeneration" "" "0000295637" "05741" "00402876" "00006" "Familial, autosomal dominant" "43y" "see paper; ..., bilateral ptosis, limitation eye movement, 26y-diplopia, gradually developed facial muscle weakness, anasal voice, difficulty speaking and swallowing, symmetrical weakness four distal limbs" "" "" "" "" "" "" "" "" "OPDM" "oculopharyngodistal myopathy" "" "0000295638" "00198" "00402877" "00006" "Familial, autosomal dominant" "" "see paper; ..., no muscle weakness, postural tremor head and both hands" "" "" "" "" "" "" "" "" "" "" "" "0000295639" "05741" "00402878" "00006" "Familial, autosomal dominant" "42y" "see paper; ..., 27y-ptosis; 42y-poor eye movement, nasal voice, muscle weakness facial muscles and distal limbs, no sensory impairment, EMG myogenic changes" "" "" "" "" "" "" "" "" "OPDM" "oculopharyngodistal myopathy" "" "0000295641" "05741" "00402880" "00006" "Unknown" "46y" "see paper; ..., 14y-drooping eyelids, gradually developed limited eye movement; 31y-weakness finger extension; >36y-developed dysarthria, weakness distal lower limbs; 46y-high-arched palate, external ophthalmoplegia, facial weakness, wasting both lower limbs and distal upper limbs, absent deep tendon reflexes , no sensory deficit" "" "" "" "" "" "" "" "" "OPDM" "oculopharyngodistal myopathy" "" "0000317236" "05741" "00426072" "00006" "Familial, autosomal dominant" "57y" "ptosis; restricted eye movement, external ophthalmoplegia; dysphagia; dysarthria (nasal voice); facial palsy or atrophy; proximal weakness; distal weakness; no cardiac involvement; no gastrointestinal involvement; no DWI hyperintensity signal; raised creatine kinase level 758 U/L; EMG myopathic changes; muscle biopsy rimmed vacuoles, intranuclear inclusions" "30y" "" "ptosis" "" "" "" "" "" "OPDM4" "oculopharyngodistal myopathy" "" "0000317237" "05741" "00426073" "00006" "Familial, autosomal dominant" "36y" "ptosis; restricted eye movement, external ophthalmoplegia; no dysphagia; dysarthria (nasal voice); facial palsy or atrophy; no proximal weakness; no distal weakness; no cardiac involvement; no gastrointestinal involvement; raised creatine kinase level 295 U/L" "10y" "" "ptosis" "" "" "" "" "" "OPDM4" "oculopharyngodistal myopathy" "" "0000317238" "05741" "00426074" "00006" "Familial, autosomal dominant" "33y" "ptosis; restricted eye movement, external ophthalmoplegia; no dysphagia; dysarthria (nasal voice); facial palsy or atrophy; no proximal weakness; no distal weakness; no cardiac involvement; no gastrointestinal involvement; 434raised creatine kinase level U/L" "10y" "" "ptosis" "" "" "" "" "" "OPDM4" "oculopharyngodistal myopathy" "" "0000317239" "05741" "00426075" "00006" "Familial, autosomal dominant" "29y" "ptosis; restricted eye movement, external ophthalmoplegia; no dysphagia; dysarthria (nasal voice); facial palsy or atrophy; no proximal weakness; no distal weakness; no cardiac involvement; no gastrointestinal involvement; high normal creatine kinase level 165 U/L" "21y" "" "ptosis" "" "" "" "" "" "OPDM4" "oculopharyngodistal myopathy" "" "0000317240" "05741" "00426076" "00006" "Familial, autosomal dominant" "37y" "ptosis; restricted eye movement, external ophthalmoplegia; no dysphagia; dysarthria (nasal voice); facial palsy or atrophy; no proximal weakness; distal weakness; no cardiac involvement; no gastrointestinal involvement; raised creatine kinase level 710 U?L; EMG myopathic changes" "25y" "" "weakness in bilateral legs" "" "" "" "" "" "OPDM4" "oculopharyngodistal myopathy" "" "0000317241" "05741" "00426077" "00006" "Familial, autosomal dominant" "33y" "ptosis; restricted eye movement, external ophthalmoplegia; no dysphagia; dysarthria (nasal voice); facial palsy or atrophy; no proximal weakness; distal weakness; no cardiac involvement; no gastrointestinal involvement; raised creatine kinase level 665 U?L; EMG myopathic changes; muscle biopsy rimmed vacuoles, intranuclear inclusions" "20y" "" "weakness in bilateral legs" "" "" "" "" "" "OPDM4" "oculopharyngodistal myopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 34 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000297843" "00296733" "1" "00006" "00006" "2020-04-11 19:49:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308224" "00307082" "1" "00006" "00006" "2020-07-30 09:03:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000404117" "00402876" "1" "00006" "00006" "2022-02-13 14:05:32" "" "" "PCR;PCRrp;SEQ" "DNA" "" "" "0000404118" "00402877" "1" "00006" "00006" "2022-02-13 16:19:07" "" "" "PCR;PCRrp" "DNA" "" "" "0000404119" "00402878" "1" "00006" "00006" "2022-02-13 16:42:43" "" "" "PCR;PCRrp" "DNA" "" "" "0000404120" "00402880" "1" "00006" "00006" "2022-02-13 16:51:04" "" "" "PCR;PCRrp" "DNA" "" "" "0000404122" "00402881" "1" "00006" "00006" "2022-02-13 16:57:21" "" "" "PCR;PCRrp" "DNA" "" "" "0000404123" "00402882" "1" "00006" "00006" "2022-02-13 17:03:10" "" "" "PCR;PCRrp" "DNA" "" "" "0000404124" "00402883" "1" "00006" "00006" "2022-02-13 17:05:08" "" "" "PCR;PCRrp" "DNA" "" "" "0000404125" "00402884" "1" "00006" "00006" "2022-02-13 17:06:51" "" "" "PCR;PCRrp" "DNA" "" "" "0000404126" "00402885" "1" "00006" "00006" "2022-02-13 17:08:05" "" "" "PCR;PCRrp" "DNA" "" "" "0000404127" "00402886" "1" "00006" "00006" "2022-02-13 17:09:01" "" "" "PCR;PCRrp" "DNA" "" "" "0000404128" "00402887" "1" "00006" "00006" "2022-02-13 17:09:35" "" "" "PCR;PCRrp" "DNA" "" "" "0000404129" "00402888" "1" "00006" "00006" "2022-02-13 17:10:11" "" "" "PCR;PCRrp" "DNA" "" "" "0000427392" "00426072" "1" "00006" "00006" "2022-11-27 16:21:07" "" "" "PCR;SEQ" "DNA" "" "" "0000427393" "00426073" "1" "00006" "00006" "2022-11-27 16:21:07" "" "" "PCR;SEQ" "DNA" "" "" "0000427394" "00426074" "1" "00006" "00006" "2022-11-27 16:21:07" "" "" "PCR;SEQ" "DNA" "" "" "0000427395" "00426075" "1" "00006" "00006" "2022-11-27 16:21:07" "" "" "PCR;SEQ" "DNA" "" "" "0000427396" "00426076" "1" "00006" "00006" "2022-11-27 16:21:07" "" "" "PCR;SEQ" "DNA" "" "" "0000427397" "00426077" "1" "00006" "00006" "2022-11-27 16:21:07" "" "" "PCR;SEQ" "DNA" "" "" "0000427398" "00426078" "1" "00006" "00006" "2022-11-27 16:21:07" "" "" "PCR;SEQ" "DNA" "" "WGS" "0000427399" "00426079" "1" "00006" "00006" "2022-11-27 16:21:07" "" "" "PCR;SEQ" "DNA" "" "WGS" "0000427400" "00426080" "1" "00006" "00006" "2022-11-27 16:21:07" "" "" "PCR;SEQ" "DNA" "" "WGS" "0000427401" "00426081" "1" "00006" "00006" "2022-11-27 16:21:07" "" "" "PCR;SEQ" "DNA" "" "WGS" "0000427402" "00426082" "1" "00006" "00006" "2022-11-27 16:21:07" "" "" "PCR;SEQ" "DNA" "" "WGS" "0000427403" "00426083" "1" "00006" "00006" "2022-11-27 16:21:07" "" "" "PCR;SEQ" "DNA" "" "WGS" "0000427404" "00426084" "1" "00006" "00006" "2022-11-27 16:21:07" "" "" "PCR;SEQ" "DNA" "" "WGS" "0000427405" "00426085" "1" "00006" "00006" "2022-11-27 16:21:07" "" "" "PCR;SEQ" "DNA" "" "WGS" "0000427406" "00426086" "1" "00006" "00006" "2022-11-27 16:21:07" "" "" "PCR;SEQ" "DNA" "" "WGS" "0000427407" "00426087" "1" "00006" "00006" "2022-11-27 16:21:07" "" "" "PCR;SEQ" "DNA" "" "WGS" "0000427408" "00426088" "1" "00006" "00006" "2022-11-27 16:21:07" "" "" "PCR;SEQ" "DNA" "" "WGS" "0000427409" "00426089" "1" "00006" "00006" "2022-11-27 16:21:07" "" "" "PCR;SEQ" "DNA" "" "WGS" "0000427410" "00426090" "1" "00006" "00006" "2022-11-27 16:21:07" "" "" "PCR;SEQ" "DNA" "" "WGS" "0000427411" "00426091" "1" "00006" "00006" "2022-11-27 16:21:07" "" "" "PCR;SEQ" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 34 "{{screeningid}}" "{{geneid}}" "0000297843" "REEP6" "0000308224" "MAPK1" "0000404117" "RILPL1" "0000404118" "RILPL1" "0000404119" "RILPL1" "0000404120" "RILPL1" "0000404122" "RILPL1" "0000404123" "RILPL1" "0000404124" "RILPL1" "0000404125" "RILPL1" "0000404126" "RILPL1" "0000404127" "RILPL1" "0000404128" "RILPL1" "0000404129" "RILPL1" "0000427392" "RILPL1" "0000427393" "RILPL1" "0000427394" "RILPL1" "0000427395" "RILPL1" "0000427396" "RILPL1" "0000427397" "RILPL1" "0000427398" "RILPL1" "0000427399" "RILPL1" "0000427400" "RILPL1" "0000427401" "RILPL1" "0000427402" "RILPL1" "0000427403" "RILPL1" "0000427404" "RILPL1" "0000427405" "RILPL1" "0000427406" "RILPL1" "0000427407" "RILPL1" "0000427408" "RILPL1" "0000427409" "RILPL1" "0000427410" "RILPL1" "0000427411" "RILPL1" ## 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 = 35 "{{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}}" "0000660539" "1" "50" "12" "123957164" "123957164" "subst" "9.81836E-5" "00006" "RILPL1_000001" "g.123957164T>G" "" "{PMID:Arno 2016:27889058}" "" "" "" "Germline" "" "" "0" "" "" "g.123472617T>G" "" "VUS" "" "0000660540" "1" "50" "12" "123957165" "123957165" "subst" "9.80594E-5" "00006" "RILPL1_000002" "g.123957165C>A" "" "{PMID:Arno 2016:27889058}" "" "" "" "Germline" "" "" "0" "" "" "g.123472618C>A" "" "VUS" "" "0000675104" "3" "50" "12" "123983140" "123983140" "subst" "0.00101622" "00006" "RILPL1_000003" "g.123983140C>T" "" "{PMID:Pannone 2020:32721402}, {DOI:Pannone 2020:10.1016/j.ajhg.2020.06.018}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000839706" "21" "90" "12" "124018228" "124018346" "ins" "0" "00006" "RILPL1_000004" "g.124018228_124018346insN[(270_495)]" "" "{PMID:Yu 2022:35148830}" "" "" "" "Germline" "yes" "" "0" "" "" "g.123533681_123533799insN[(270_495)]" "" "pathogenic (dominant)" "" "0000839707" "1" "50" "12" "124018228" "124018346" "ins" "0" "00006" "RILPL1_000005" "g.124018228_124018346insN[228]" "" "{PMID:Yu 2022:35148830}" "" "" "" "Germline" "" "" "0" "" "" "g.123533681_123533799insN[228]" "" "VUS" "" "0000839708" "1" "90" "12" "124018228" "124018346" "ins" "0" "00006" "RILPL1_000006" "g.124018228_124018346insN[(387_561)]" "" "{PMID:Yu 2022:35148830}" "" "" "" "Germline" "" "" "0" "" "" "g.123533681_123533799insN[(387_561)]" "" "pathogenic (dominant)" "" "0000839709" "0" "90" "12" "124018228" "124018346" "ins" "0" "00006" "RILPL1_000006" "g.124018228_124018346insN[(387_561)]" "" "{PMID:Yu 2022:35148830}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.123533681_123533799insN[(387_561)]" "" "pathogenic (dominant)" "" "0000839710" "0" "90" "12" "124018228" "124018346" "ins" "0" "00006" "RILPL1_000006" "g.124018228_124018346insN[(387_561)]" "9/20 cases unknown OPDM" "{PMID:Yu 2022:35148830}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.123533681_123533799insN[(387_561)]" "" "pathogenic (dominant)" "" "0000839711" "0" "10" "12" "124018228" "124018346" "ins" "0" "00006" "RILPL1_000007" "g.124018228_124018346del(3)" ">0.90 controls" "{PMID:Yu 2022:35148830}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.123533681_123533799del(3)" "" "pathogenic (dominant)" "" "0000839713" "0" "10" "12" "124018228" "124018346" "ins" "0" "00006" "RILPL1_000008" "g.124018228_124018346=" "<0.03 controls" "{PMID:Yu 2022:35148830}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.123533681_123533799=" "" "pathogenic (dominant)" "" "0000839714" "0" "10" "12" "124018228" "124018346" "ins" "0" "00006" "RILPL1_000009" "g.124018228_124018346insN[3]" "<0.02 controls" "{PMID:Yu 2022:35148830}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.123533681_123533799insN[3]" "" "pathogenic (dominant)" "" "0000839716" "0" "10" "12" "124018228" "124018346" "ins" "0" "00006" "RILPL1_000010" "g.124018228_124018346insN[6]" "<0.01 controls" "{PMID:Yu 2022:35148830}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.123533681_123533799insN[6]" "" "pathogenic (dominant)" "" "0000839718" "0" "10" "12" "124018228" "124018346" "ins" "0" "00006" "RILPL1_000011" "g.124018228_124018346insN[12]" "<0.01 controls" "{PMID:Yu 2022:35148830}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.123533681_123533799insN[12]" "" "pathogenic (dominant)" "" "0000839719" "0" "10" "12" "124018228" "124018346" "ins" "0" "00006" "RILPL1_000012" "g.124018228_124018346insN[15]" "<0.01 controls" "{PMID:Yu 2022:35148830}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.123533681_123533799insN[15]" "" "pathogenic (dominant)" "" "0000839720" "0" "10" "12" "124018228" "124018346" "ins" "0" "00006" "RILPL1_000013" "g.124018228_124018346insN[18]" "<0.01 controls" "{PMID:Yu 2022:35148830}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.123533681_123533799insN[18]" "" "pathogenic (dominant)" "" "0000904752" "1" "90" "12" "124018268" "124018297" "repeat" "0" "00006" "RILPL1_000014" "g.124018268_124018297GGC[170]" "" "{PMID:Zeng 2022:35700120}" "" "" "" "Germline" "yes" "" "0" "" "" "g.123533721_123533750GGC[170]" "" "pathogenic (dominant)" "" "0000904753" "1" "90" "12" "124018268" "124018297" "repeat" "0" "00006" "RILPL1_000014" "g.124018268_124018297GGC[161]" "" "{PMID:Zeng 2022:35700120}" "" "" "" "Germline" "yes" "" "0" "" "" "g.123533721_123533750GGC[161]" "" "pathogenic (dominant)" "" "0000904754" "1" "90" "12" "124018268" "124018297" "repeat" "0" "00006" "RILPL1_000014" "g.124018268_124018297GGC[139]" "" "{PMID:Zeng 2022:35700120}" "" "" "" "Germline" "yes" "" "0" "" "" "g.123533721_123533750GGC[139]" "" "pathogenic (dominant)" "" "0000904755" "1" "90" "12" "124018268" "124018297" "repeat" "0" "00006" "RILPL1_000014" "g.124018268_124018297GGC[135]" "" "{PMID:Zeng 2022:35700120}" "" "" "" "Germline" "yes" "" "0" "" "" "g.123533721_123533750GGC[135]" "" "pathogenic (dominant)" "" "0000904756" "1" "90" "12" "124018268" "124018297" "repeat" "0" "00006" "RILPL1_000014" "g.124018268_124018297GGC[190]" "" "{PMID:Zeng 2022:35700120}" "" "" "" "Germline" "yes" "" "0" "" "" "g.123533721_123533750GGC[190]" "" "pathogenic (dominant)" "" "0000904757" "1" "90" "12" "124018268" "124018297" "repeat" "0" "00006" "RILPL1_000014" "g.124018268_124018297GGC[174]" "" "{PMID:Zeng 2022:35700120}" "" "" "" "Germline" "yes" "" "0" "" "" "g.123533721_123533750GGC[174]" "" "pathogenic (dominant)" "" "0000904758" "1" "10" "12" "124018280" "124018297" "del" "0" "00006" "RILPL1_000014" "g.124018280_124018297del" "1/2508 control chromosomes" "{PMID:Zeng 2022:35700120}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000904759" "1" "10" "12" "124018286" "124018297" "del" "0" "00006" "RILPL1_000014" "g.124018286_124018297del" "2/2508 control chromosomes" "{PMID:Zeng 2022:35700120}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000904760" "1" "10" "12" "124018289" "124018297" "del" "0" "00006" "RILPL1_000014" "g.124018289_124018297del" "6/2508 control chromosomes" "{PMID:Zeng 2022:35700120}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000904761" "1" "10" "12" "124018295" "124018297" "del" "0" "00006" "RILPL1_000014" "g.124018295_124018297del" "11/2508 control chromosomes" "{PMID:Zeng 2022:35700120}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000904762" "1" "10" "12" "124018268" "124018297" "=" "0" "00006" "RILPL1_000014" "g.124018268_124018297=" "4763/2508 control chromosomes" "{PMID:Zeng 2022:35700120}" "" "" "" "Germline" "" "" "0" "" "" "g.123533721_123533750=" "" "benign" "" "0000904763" "1" "10" "12" "124018295" "124018297" "dup" "0" "00006" "RILPL1_000014" "g.124018295_124018297dup" "71/2508 control chromosomes" "{PMID:Zeng 2022:35700120}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000904764" "1" "10" "12" "124018292" "124018297" "dup" "0" "00006" "RILPL1_000014" "g.124018292_124018297dup" "112/2508 control chromosomes" "{PMID:Zeng 2022:35700120}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000904765" "1" "10" "12" "124018289" "124018297" "dup" "0" "00006" "RILPL1_000014" "g.124018289_124018297dup" "24/2508 control chromosomes" "{PMID:Zeng 2022:35700120}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000904766" "1" "10" "12" "124018286" "124018297" "dup" "0" "00006" "RILPL1_000014" "g.124018286_124018297dup" "3/2508 control chromosomes" "{PMID:Zeng 2022:35700120}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000904767" "1" "10" "12" "124018283" "124018297" "dup" "0" "00006" "RILPL1_000014" "g.124018283_124018297dup" "2/2508 control chromosomes" "{PMID:Zeng 2022:35700120}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000904768" "1" "10" "12" "124018280" "124018297" "dup" "0" "00006" "RILPL1_000014" "g.124018280_124018297dup" "10/2508 control chromosomes" "{PMID:Zeng 2022:35700120}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000904769" "1" "10" "12" "124018274" "124018297" "dup" "0" "00006" "RILPL1_000014" "g.124018274_124018297dup" "1/2508 control chromosomes" "{PMID:Zeng 2022:35700120}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000904770" "1" "10" "12" "124018271" "124018297" "dup" "0" "00006" "RILPL1_000014" "g.124018271_124018297dup" "1/2508 control chromosomes" "{PMID:Zeng 2022:35700120}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000904771" "1" "10" "12" "124018268" "124018297" "dup" "0" "00006" "RILPL1_000014" "g.124018268_124018297dup" "1/2508 control chromosomes" "{PMID:Zeng 2022:35700120}" "" "" "" "Germline" "" "" "0" "" "" "g.123533721_123533750dup" "" "benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes RILPL1 ## Count = 35 "{{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}}" "{{VariantOnTranscript/Haplotype}}" "0000660539" "00017770" "50" "1133" "0" "1133" "0" "c.1133A>C" "r.(?)" "p.(Glu378Ala)" "" "" "0000660540" "00017770" "50" "1132" "0" "1132" "0" "c.1132G>T" "r.(?)" "p.(Glu378*)" "" "" "0000675104" "00017770" "50" "752" "0" "752" "0" "c.752G>A" "r.(?)" "p.(Arg251Gln)" "" "" "0000839706" "00017770" "90" "-317" "0" "-199" "0" "c.-317_-199insN[(270_495)]" "r.?" "p.?" "1" "GCC[(100_175)]" "0000839707" "00017770" "50" "-317" "0" "-199" "0" "c.-317_-199insN[228]" "r.(=)" "p.(=)" "1" "GCC[86]" "0000839708" "00017770" "90" "-317" "0" "-199" "0" "c.-317_-199insN[(387_561)]" "r.?" "p.?" "1" "GCC[(139_197)]" "0000839709" "00017770" "90" "-317" "0" "-199" "0" "c.-317_-199insN[(387_561)]" "r.?" "p.?" "1" "GCC[(139_197)]" "0000839710" "00017770" "90" "-317" "0" "-199" "0" "c.-317_-199insN[(387_561)]" "r.?" "p.?" "1" "GCC[(139_197)]" "0000839711" "00017770" "10" "-317" "0" "-199" "0" "c.-317_-199del(3)" "r.?" "p.?" "1" "GCC[9]" "0000839713" "00017770" "10" "-317" "0" "-199" "0" "c.-317_-199=" "r.?" "p.?" "1" "GCC[10]" "0000839714" "00017770" "10" "-317" "0" "-199" "0" "c.-317_-199insN[3]" "r.?" "p.?" "1" "GCC[11]" "0000839716" "00017770" "10" "-317" "0" "-199" "0" "c.-317_-199insN[6]" "r.?" "p.?" "1" "GCC[12]" "0000839718" "00017770" "10" "-317" "0" "-199" "0" "c.-317_-199insN[12]" "r.?" "p.?" "1" "GCC[14]" "0000839719" "00017770" "10" "-317" "0" "-199" "0" "c.-317_-199insN[15]" "r.?" "p.?" "1" "GCC[15]" "0000839720" "00017770" "10" "-317" "0" "-199" "0" "c.-317_-199insN[18]" "r.?" "p.?" "1" "GCC[16]" "0000904752" "00017770" "90" "" "0" "" "0" "-" "r.?" "p.?" "_1" "GCC[170]" "0000904753" "00017770" "90" "" "0" "" "0" "-" "r.?" "p.?" "_1" "GCC[161]" "0000904754" "00017770" "90" "" "0" "" "0" "-" "r.?" "p.?" "_1" "GCC[139]" "0000904755" "00017770" "90" "" "0" "" "0" "-" "r.?" "p.?" "_1" "GCC[135]" "0000904756" "00017770" "90" "" "0" "" "0" "-" "r.?" "p.?" "_1" "GCC[190]" "0000904757" "00017770" "90" "" "0" "" "0" "-" "r.?" "p.?" "_1" "GCC[174]" "0000904758" "00017770" "10" "" "0" "" "0" "-" "r.(=)" "p.(=)" "_1" "GCC[4]" "0000904759" "00017770" "10" "" "0" "" "0" "-" "r.(=)" "p.(=)" "_1" "GCC[6]" "0000904760" "00017770" "10" "" "0" "" "0" "-" "r.(=)" "p.(=)" "_1" "GCC[7]" "0000904761" "00017770" "10" "" "0" "" "0" "-" "r.(=)" "p.(=)" "_1" "GCC[9]" "0000904762" "00017770" "10" "" "0" "" "0" "-" "r.(=)" "p.(=)" "_1" "GCC[10]" "0000904763" "00017770" "10" "" "0" "" "0" "-" "r.(=)" "p.(=)" "_1" "GCC[11]" "0000904764" "00017770" "10" "" "0" "" "0" "-" "r.(=)" "p.(=)" "_1" "GCC[12]" "0000904765" "00017770" "10" "" "0" "" "0" "-" "r.(=)" "p.(=)" "_1" "GCC[13]" "0000904766" "00017770" "10" "" "0" "" "0" "-" "r.(=)" "p.(=)" "_1" "GCC[14]" "0000904767" "00017770" "10" "" "0" "" "0" "-" "r.(=)" "p.(=)" "_1" "GCC[15]" "0000904768" "00017770" "10" "" "0" "" "0" "-" "r.(=)" "p.(=)" "_1" "GCC[16]" "0000904769" "00017770" "10" "" "0" "" "0" "-" "r.(=)" "p.(=)" "_1" "GCC[18]" "0000904770" "00017770" "10" "" "0" "" "0" "-" "r.(=)" "p.(=)" "_1" "GCC[19]" "0000904771" "00017770" "10" "" "0" "" "0" "-" "r.(=)" "p.(=)" "_1" "GCC[20]" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 35 "{{screeningid}}" "{{variantid}}" "0000297843" "0000660539" "0000297843" "0000660540" "0000308224" "0000675104" "0000404117" "0000839706" "0000404118" "0000839707" "0000404119" "0000839708" "0000404120" "0000839709" "0000404122" "0000839710" "0000404123" "0000839711" "0000404124" "0000839713" "0000404125" "0000839714" "0000404126" "0000839716" "0000404127" "0000839718" "0000404128" "0000839719" "0000404129" "0000839720" "0000427392" "0000904752" "0000427393" "0000904753" "0000427394" "0000904754" "0000427395" "0000904755" "0000427396" "0000904756" "0000427397" "0000904757" "0000427398" "0000904758" "0000427399" "0000904759" "0000427400" "0000904760" "0000427401" "0000904761" "0000427402" "0000904762" "0000427403" "0000904763" "0000427404" "0000904764" "0000427405" "0000904765" "0000427406" "0000904766" "0000427407" "0000904767" "0000427408" "0000904768" "0000427409" "0000904769" "0000427410" "0000904770" "0000427411" "0000904771"