### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = REEP6) # 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}}" "REEP6" "receptor accessory protein 6" "19" "p13.3" "unknown" "NG_055254.1" "UD_132438169998" "" "https://www.LOVD.nl/REEP6" "" "1" "30078" "92840" "609346" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/REEP6_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-04-11 19:40:28" "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}}" "00017611" "REEP6" "receptor accessory protein 6" "001" "NM_138393.1" "" "NP_612402.1" "" "" "" "-104" "1269" "555" "1491165" "1497924" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05722" "RP77" "retinitis pigmentosa, type 77 (RP77)" "AR" "617304" "" "" "" "00006" "2020-04-10 19:40:29" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "REEP6" "04214" "REEP6" "05722" ## Individuals ## Do not remove or alter this header ## ## Count = 19 "{{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}}" "00207589" "" "" "" "6" "" "01244" "" "" "M" "" "" "" "0" "" "" "" "" "00296733" "" "" "" "1" "" "00006" "{PMID:Arno 2016:27889058}" "2-generation family, 1 affected, unaffected parents" "M" "no" "" "" "0" "" "" "Asia" "EG76;FamAPatII1" "00296734" "" "" "" "3" "" "00006" "{PMID:Arno 2016:27889058}" "2-generation family, 3 affected brothers, unaffected parents" "M" "yes" "Sudan" "" "0" "" "" "" "GC18419;FamBPatII8" "00296735" "" "" "" "2" "" "00006" "{PMID:Arno 2016:27889058}" "2-generation family, affected brother/sister, unaffected parents" "M" "yes" "Turkey" "" "0" "" "" "" "GC20453;FamCPatII1" "00296736" "" "" "" "2" "" "00006" "{PMID:Arno 2016:27889058}" "2-generation family, affected sister/brother, unaffected parents" "M" "yes" "Iran" "" "0" "" "" "" "GC20277;FamDPatII5" "00296737" "" "" "" "2" "" "00006" "{PMID:Arno 2016:27889058}" "2-generation family, 2 affected brothers, unaffected parents" "M" "yes" "India" "" "0" "" "" "" "GC15672;FamEPatII1" "00296738" "" "" "" "1" "" "00006" "{PMID:Veleri 2017:28369466}" "3-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United States" "" "0" "" "" "African" "Fam1Pat1" "00296739" "" "" "" "1" "" "00006" "{PMID:Veleri 2017:28369466}" "4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "China" "" "0" "" "" "Han Chinese" "Fam2Pat2" "00296740" "" "" "" "3" "" "00006" "{PMID:Mejecase 2018:29120066}" "3-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives" "F" "yes" "France" "" "0" "" "" "North Africa" "CIC03778;FamPatII2" "00296741" "" "" "" "1" "" "00006" "{PMID:Lin 2020:31538292}" "3-generation family, 1 affected, unaffected parents" "M" "" "Cameroon" "" "0" "" "" "" "Pat1" "00387074" "" "" "" "1" "" "00000" "{PMID:Jauregui 2020:32098976}" "" "M" "" "(United States)" "" "0" "" "" "white" "100" "00392672" "" "" "" "1" "" "00000" "{PMID:Ma 2021:33691693}" "" "?" "" "Korea" "" "0" "" "" "" "167" "00393989" "" "" "" "1" "" "00000" "{PMID:Fuster-Garcia-2019:31725169}" "" "" "" "" "" "0" "" "" "Spanish" "" "00396647" "" "" "" "1" "" "00000" "{PMID:Numa 2020:33247286}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "" "00429645" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" "" "00429845" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" "" "00429973" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" "" "00447013" "" "" "" "4" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, >3 affected" "F" "" "Germany" "" "0" "" "" "" "ARRP-479" "00447504" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "ARRP-444" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 19 "{{individualid}}" "{{diseaseid}}" "00207589" "04214" "00296733" "04214" "00296734" "04214" "00296735" "04214" "00296736" "04214" "00296737" "04214" "00296738" "04214" "00296739" "04214" "00296740" "04214" "00296741" "04214" "00387074" "04214" "00392672" "04214" "00393989" "04214" "00396647" "04214" "00429645" "00112" "00429845" "00112" "00429973" "00112" "00447013" "00198" "00447504" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00112, 00198, 04214, 05722 ## Count = 19 "{{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}}" "0000155400" "04214" "00207589" "01244" "Familial" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "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" "" "0000224135" "04214" "00296734" "00006" "Familial, autosomal recessive" "54y" "20y-nyctalopia (HP:0000662), 30y reduced fields (HP:0001123), 40y reduced central vision (HP:0007663); logMAR R 0.3 (20/40), L 0.18 (20/30); refraction r +2.25/-1.25 x 75,L +2.5/-2 x 20; fundus attenuated vessels (HP:?), mid-peripheral retinal pigment epithelial atrophy (HP:0007722), bony spicules (HP:0007737), atrophic patches (HP:0001099), cystoid macular edema (HP:0011505); fields to confrontation 10 degrees, Ishihara 17/17 each eye (HP:0030586), bilateral early cataract (HP:0000518), 48y-anosmia (HP:0000458)" "" "" "" "" "" "" "" "" "RP77" "retinitis pigmentosa" "" "0000224136" "04214" "00296735" "00006" "Familial, autosomal recessive" "44y" "10y-nyctalopia (HP:0000662), 37 reduced central vision (HP:0007663); logMAR R 0.3 (20/40), L 0.3 (20/40); refraction R pseudophakic, L -1.25/-0.75 x180; fundus optic disc pallor (HP:0000543), attenuated vessels (HP:?), mid-peripheral retinal pigment epithelial atrophy (HP:0007722), bony spicules (HP:0007737), atrophic patches (HP:0001099); fields to confrontation less than 10 degrees, Ishihara 17/17 each eye (HP:0030586)" "" "" "" "" "" "" "" "" "RP77" "retinitis pigmentosa" "" "0000224137" "04214" "00296736" "00006" "Familial, autosomal recessive" "32y" "early childhoody nyctalopia (HP:0000662), gradual field loss (HP:0007987); logMAR R 1.3 (20/400), L 0.9 (20/160); refraction BE pseudophakic when assessed; fundus attenuated vessels (HP:?), mid-peripheral retinal pigment epithelial atrophy (HP:0007722), minimal pigment change (HP:0031605); mid 20s-ERGs undetectable (HP:0000550) (scotopic and photopic); fields to confrontation 10-15 degrees, Ishihara 0/17 each eye (HP:0030586)" "" "" "" "" "" "" "" "" "RP77" "retinitis pigmentosa" "" "0000224138" "04214" "00296737" "00006" "Familial, autosomal recessive" "29y" "14y-nyctalopia (HP:0000662), late teens fields loss (HP:0001123); logMAR R 0.3 (20/40), L 0.18 (20/30); myopia (HP:0000545); fundus attenuated vessels (HP:?), mid-peripheral retinal pigment epithelial atrophy (HP:0007722), bony spicules (HP:0007737), hyperpigmentation (HP:0011512), cystoid macular edema (HP:0011505); 15y-PERG normal, rod ERG undetectable (HP:0000550), delayed and profoundly reduced cone specific responses, severe rod-cone dystrophy (HP:0000548); fields to confrontation reduced to 30 degrees, early posterior subcapsular cataract (HP:0007787)" "" "" "" "" "" "" "" "" "RP77" "retinitis pigmentosa" "" "0000224139" "04214" "00296738" "00006" "Familial, autosomal recessive" "73y" "8-9y-night and side vision disturbances, 30y-diagnosed retinitis oigmentosa, progressive vision loss; 52y-visual acuities were R 20/400, L 20/40 (no significant refractive errors), intraocular pressures normal (16 mm Hg), minimal cataracts, visual fields restricted to small central island each eye; 73y-visual acuities R 20/400, L motions vision, central island visual field detectable right eye only, funduscopic revealed dense pigmentary abnormalities; no family history" "" "30y" "<9y" "" "" "" "" "" "RP77" "retinitis pigmentosa" "" "0000224140" "04214" "00296739" "00006" "Familial, autosomal recessive" "46y" "46y-typical retinitis pigmentosa, severe visual impairment, visual acuities: HM both eyes), bone spicule-like pigment deposits" "" "" "" "" "" "" "" "" "RP77" "retinitis pigmentosa" "" "0000224141" "04214" "00296740" "00006" "Familial, autosomal recessive" "55y" "26y-night blindness; 30y-diagnosis rod-cone dystrophy, best corrected visual acuity 20/63 both eyes with optimized myopic optical correction (R −6 (−2)0, L −8(−2)0), ERG full field undetectable, severe generalized photoreceptor dysfunction; 40y-catarct surgery both eyes; 55y-BVCA R 20/500, L 20/320, severe dyschromatopsia, bilateral severe visual field constriction 15 degrees at the binocular III4e test, funds coarse pigment migrations, atrophic changes macula, widespread alterations posterior pole and peripheral retina, patchy loss autofluorescence macula, severe thinning outer nuclear layer both eyes, loss hyper reflective outer retinal bands, hyper reflective material present above retinal pigment epithelium/Bruch’s membrane complex" "26y" "30y" "night blindness" "" "" "" "" "" "RP77" "rod-cone dystrophy" "" "0000224142" "04214" "00296741" "00006" "Familial, autosomal recessive" "33y" "see paper; ..., 18y-problems night vision" "18y" "" "night vision" "" "" "" "" "" "RP77" "retinitis pigmentosa" "" "0000280852" "04214" "00387074" "00000" "Familial, autosomal recessive" "31y" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa, autosomal recessive" "" "" "0000285919" "04214" "00392672" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" "" "0000287195" "04214" "00393989" "00000" "Familial, autosomal recessive" "44y" "" "12y" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000289808" "04214" "00396647" "00000" "Familial, autosomal recessive" "41y" "night blindness" "<12y" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000320517" "00112" "00429645" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320717" "00112" "00429845" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320845" "00112" "00429973" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000336212" "00198" "00447013" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal recessive" "" "0000336703" "00198" "00447504" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal recessive" "" ## Screenings ## Do not remove or alter this header ## ## Count = 19 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000208626" "00207589" "1" "01244" "01244" "2018-11-26 10:35:32" "" "" "SEQ-NG-I" "DNA" "Peripheral blood" "" "0000297843" "00296733" "1" "00006" "00006" "2020-04-11 19:49:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000297844" "00296734" "1" "00006" "00006" "2020-04-11 19:49:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000297845" "00296735" "1" "00006" "00006" "2020-04-11 19:49:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000297846" "00296736" "1" "00006" "00006" "2020-04-11 19:49:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000297847" "00296737" "1" "00006" "00006" "2020-04-11 19:49:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000297848" "00296738" "1" "00006" "00006" "2020-04-12 09:53:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000297849" "00296739" "1" "00006" "00006" "2020-04-12 09:56:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000297850" "00296740" "1" "00006" "00006" "2020-04-12 10:15:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000297851" "00296741" "1" "00006" "00006" "2020-04-12 10:38:05" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000388300" "00387074" "1" "00000" "03840" "2021-10-28 13:59:26" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000393919" "00392672" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing" "0000395237" "00393989" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000397890" "00396647" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000431058" "00429645" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431258" "00429845" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431386" "00429973" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000448590" "00447013" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449081" "00447504" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{geneid}}" "0000297843" "REEP6" "0000297844" "REEP6" "0000297845" "REEP6" "0000297846" "REEP6" "0000297847" "REEP6" "0000297848" "REEP6" "0000297849" "REEP6" "0000297850" "REEP6" "0000297851" "REEP6" "0000388300" "REEP6" "0000393919" "REEP6" "0000395237" "REEP6" "0000397890" "PDE6B" "0000431058" "REEP6" "0000431258" "REEP6" "0000431386" "REEP6" ## 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 = 43 "{{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}}" "0000326045" "0" "50" "19" "1487614" "1487614" "subst" "0.00047413" "01804" "PCSK4_000003" "g.1487614C>T" "" "" "" "PCSK4(NM_017573.3):c.670G>A (p.(Ala224Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1487615C>T" "" "VUS" "" "0000438545" "1" "90" "19" "1496283" "1496283" "subst" "0" "01244" "REEP6_000002" "g.1496283G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.1496284G>A" "" "pathogenic" "" "0000438546" "2" "90" "19" "1496280" "1496280" "subst" "0" "01244" "REEP6_000001" "g.1496280G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.1496281G>T" "" "pathogenic" "" "0000566346" "0" "30" "19" "1487610" "1487610" "subst" "6.0291E-5" "01943" "PCSK4_000004" "g.1487610C>T" "" "" "" "PCSK4(NM_017573.4):c.674G>A (p.R225Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1487611C>T" "" "likely benign" "" "0000566348" "0" "50" "19" "1495296" "1495296" "subst" "0" "02327" "PCSK4_000005" "g.1495296C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1495297C>A" "" "VUS" "" "0000566349" "0" "30" "19" "1495381" "1495381" "subst" "8.13915E-6" "02330" "PCSK4_000006" "g.1495381T>C" "" "" "" "REEP6(NM_138393.4):c.204T>C (p.Y68=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1495382T>C" "" "likely benign" "" "0000566350" "0" "10" "19" "1495526" "1495526" "subst" "0.00115162" "01943" "PCSK4_000007" "g.1495526G>C" "" "" "" "REEP6(NM_001329556.2):c.268G>C (p.V90L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1495527G>C" "" "benign" "" "0000566351" "0" "50" "19" "1496348" "1496348" "subst" "0.00134483" "01943" "REEP6_000003" "g.1496348G>A" "" "" "" "REEP6(NM_001329556.2):c.413G>A (p.R138H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1496349G>A" "" "VUS" "" "0000566352" "0" "30" "19" "1496404" "1496404" "subst" "0.000794822" "01943" "REEP6_000004" "g.1496404G>A" "" "" "" "REEP6(NM_001329556.2):c.469G>A (p.D157N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1496405G>A" "" "likely benign" "" "0000566353" "0" "50" "19" "1496607" "1496607" "subst" "0" "02330" "REEP6_000005" "g.1496607C>T" "" "" "" "REEP6(NM_138393.4):c.517+155C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1496608C>T" "" "VUS" "" "0000617404" "0" "50" "19" "1495391" "1495391" "dup" "0" "02327" "PCSK4_000009" "g.1495391dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1495392dup" "" "VUS" "" "0000617405" "0" "50" "19" "1496277" "1496277" "subst" "5.78642E-5" "01943" "REEP6_000006" "g.1496277C>G" "" "" "" "REEP6(NM_001329556.2):c.349-7C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1496278C>G" "" "VUS" "" "0000623947" "0" "30" "19" "1495375" "1495375" "subst" "4.07E-6" "01943" "PCSK4_000008" "g.1495375C>T" "" "" "" "REEP6(NM_001329556.2):c.198C>T (p.P66=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1495376C>T" "" "likely benign" "" "0000660524" "1" "90" "19" "1496339" "1496339" "subst" "0" "00006" "REEP6_000007" "g.1496339T>C" "" "{PMID:Arno 2016:27889058}" "" "" "" "Germline" "yes" "" "0" "" "" "g.1496340T>C" "" "pathogenic (recessive)" "" "0000660525" "3" "90" "19" "1496629" "1496629" "dup" "0" "00006" "REEP6_000009" "g.1496629dup" "" "{PMID:Arno 2016:27889058}" "" "NM_001329556.3:c.557dup (Val187Glyfs*13)" "" "Germline" "yes" "" "0" "" "" "g.1496630dup" "" "pathogenic (recessive)" "" "0000660526" "3" "90" "19" "1485434" "1492319" "delins" "0" "00006" "REEP6_000012" "g.1485434_1492319delins1489259_1489416inv" "" "{PMID:Arno 2016:27889058}" "" "" "Variant Error [ESYNTAX]: This genomic variant has an error (char 36: expected EOF). Please fix this entry and then remove this message." "Germline" "yes" "" "0" "" "" "g.1485435_1492320delins1489260_1489417inv" "" "pathogenic (recessive)" "" "0000660527" "3" "90" "19" "1496318" "1496318" "subst" "0" "00006" "REEP6_000010" "g.1496318C>T" "" "{PMID:Arno 2016:27889058}" "" "" "" "Germline" "yes" "" "0" "" "" "g.1496319C>T" "" "pathogenic (recessive)" "" "0000660528" "3" "90" "19" "1495537" "1495538" "del" "0" "00006" "REEP6_000011" "g.1495537_1495538del" "" "{PMID:Arno 2016:27889058}" "" "" "" "Germline" "yes" "" "0" "" "" "g.1495538_1495539del" "" "pathogenic (recessive)" "" "0000660529" "2" "90" "19" "1496383" "1496383" "del" "0" "00006" "REEP6_000008" "g.1496383del" "" "{PMID:Arno 2016:27889058}" "" "" "" "Germline" "yes" "" "0" "" "" "g.1496384del" "" "pathogenic (recessive)" "" "0000660545" "3" "90" "19" "1495481" "1495481" "subst" "4.4823E-5" "00006" "REEP6_000013" "g.1495481G>A" "" "{PMID:Veleri 2017:28369466}" "" "" "" "Germline" "" "" "0" "" "" "g.1495482G>A" "" "pathogenic (recessive)" "" "0000660546" "3" "90" "19" "1495481" "1495481" "subst" "4.4823E-5" "00006" "REEP6_000013" "g.1495481G>A" "" "{PMID:Veleri 2017:28369466}" "" "" "" "Germline" "" "" "0" "" "" "g.1495482G>A" "" "pathogenic (recessive)" "" "0000660547" "3" "90" "19" "1495525" "1495525" "subst" "1.22089E-5" "00006" "REEP6_000014" "g.1495525G>A" "" "{PMID:Mejecase 2018:29120066}" "" "" "" "Germline" "yes" "" "0" "" "" "g.1495526G>A" "" "pathogenic (recessive)" "" "0000660551" "3" "90" "19" "1495553" "1495553" "subst" "8.13703E-6" "00006" "REEP6_000015" "g.1495553G>A" "" "{PMID:Lin 2020:31538292}" "" "" "" "Germline" "" "" "0" "" "" "g.1495554G>A" "" "pathogenic (recessive)" "" "0000681313" "0" "30" "19" "1491330" "1491330" "subst" "0" "01943" "PCSK4_000010" "g.1491330T>C" "" "" "" "REEP6(NM_001329556.2):c.62T>C (p.V21A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808730" "0" "50" "19" "1495353" "1495353" "subst" "5.69638E-5" "01943" "PCSK4_000011" "g.1495353A>G" "" "" "" "REEP6(NM_001329556.2):c.176A>G (p.N59S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808731" "0" "30" "19" "1496574" "1496574" "subst" "0" "02330" "REEP6_000016" "g.1496574C>T" "" "" "" "REEP6(NM_138393.4):c.517+122C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000816760" "3" "70" "19" "1495553" "1495553" "subst" "8.13703E-6" "00000" "REEP6_000015" "g.1495553G>A" "" "{PMID:Jauregui 2020:32098976}" "" "REEP6 c.295G>A, p.E99K" "homozygous" "Unknown" "?" "" "0" "" "" "g.1495554G>A" "" "likely pathogenic" "" "0000824741" "0" "50" "19" "1495538" "1495539" "del" "1.22058E-5" "00000" "REEP6_000017" "g.1495538_1495539del" "" "{PMID:Ma 2021:33691693}" "" "REEP6 c.280_281del, p.L94fs" "marked as causative, heterozygous" "Unknown" "?" "" "0" "" "" "g.1495539_1495540del" "" "VUS" "ACMG" "0000824804" "0" "50" "19" "1495553" "1495553" "subst" "8.13703E-6" "00000" "REEP6_000015" "g.1495553G>A" "" "{PMID:Ma 2021:33691693}" "" "REEP6 c.G295A, p.E99K" "marked as causative, heterozygous" "Unknown" "?" "" "0" "" "" "g.1495554G>A" "" "VUS" "ACMG" "0000826493" "3" "90" "19" "1497254" "1497254" "del" "0" "00000" "REEP6_000018" "g.1497254delG" "" "{PMID:Fuster-Garcia-2019:31725169}" "" "c.598+1delG" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000829950" "0" "90" "19" "1495492" "1495495" "del" "0" "00000" "REEP6_000019" "g.1495492_1495495del" "" "{PMID:Numa-2020:33247286}" "" "c.230_233del:p.77_78del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000829951" "0" "90" "19" "1495538" "1495539" "del" "1.22058E-5" "00000" "REEP6_000017" "g.1495538_1495539del" "" "{PMID:Numa-2020:33247286}" "" "c.280_281del:p.94_94del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000894826" "0" "30" "19" "1495273" "1495273" "subst" "0.000242633" "02330" "PCSK4_000012" "g.1495273C>T" "" "" "" "REEP6(NM_138393.4):c.116-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000916008" "3" "70" "19" "1495537" "1495538" "del" "0" "04436" "REEP6_000011" "g.1495537_1495538del" "" "{PMID:Panneman 2023:36819107}" "" "c.279_280del" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000916315" "1" "50" "19" "1495481" "1495481" "subst" "4.4823E-5" "04436" "REEP6_000013" "g.1495481G>A" "" "{PMID:Panneman 2023:36819107}" "" "c.223G>A" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000916316" "2" "50" "19" "1496356" "1496356" "subst" "8.14883E-6" "04436" "REEP6_000021" "g.1496356C>T" "" "{PMID:Panneman 2023:36819107}" "" "c.421C>T" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000916513" "3" "90" "19" "1495466" "1495466" "subst" "0" "04436" "REEP6_000020" "g.1495466A>G" "" "{PMID:Panneman 2023:36819107}" "" "c.210-2A>G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000931013" "0" "50" "19" "1496326" "1496326" "subst" "8.1638E-6" "02327" "REEP6_000022" "g.1496326G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951227" "0" "30" "19" "1497153" "1497153" "subst" "0.0867553" "02330" "REEP6_000023" "g.1497153A>C" "" "" "" "REEP6(NM_001329556.3):c.599-20A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000958076" "3" "90" "19" "1495513" "1495513" "subst" "0" "00006" "REEP6_000024" "g.1495513G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.1495514G>A" "1275816" "pathogenic (recessive)" "ACMG" "0000959281" "3" "50" "19" "1496404" "1496404" "subst" "0.000794822" "00006" "REEP6_000004" "g.1496404G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, BP4" "Germline" "" "" "0" "" "" "g.1496405G>A" "" "VUS" "ACMG" "0000969595" "0" "30" "19" "1495454" "1495454" "subst" "0.000778575" "02330" "PCSK4_000013" "g.1495454C>T" "" "" "" "REEP6(NM_001329556.3):c.210-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015753" "0" "30" "19" "1496355" "1496355" "subst" "0.00160937" "02330" "REEP6_000025" "g.1496355G>A" "" "" "" "REEP6(NM_001329556.3):c.420G>A (p.V140=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely 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 REEP6 ## Count = 43 "{{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}}" "0000326045" "00017611" "50" "-3655" "0" "-3655" "0" "c.-3655C>T" "r.(?)" "p.(=)" "" "0000438545" "00017611" "90" "349" "-1" "349" "-1" "c.349-1G>A" "r.spl" "p.?" "" "0000438546" "00017611" "90" "349" "-4" "349" "-4" "c.349-4G>T" "r.spl?" "p.?" "" "0000566346" "00017611" "30" "-3659" "0" "-3659" "0" "c.-3659C>T" "r.(?)" "p.(=)" "" "0000566348" "00017611" "50" "119" "0" "119" "0" "c.119C>A" "r.(?)" "p.(Ala40Asp)" "" "0000566349" "00017611" "30" "204" "0" "204" "0" "c.204T>C" "r.(?)" "p.(Tyr68=)" "" "0000566350" "00017611" "10" "268" "0" "268" "0" "c.268G>C" "r.(?)" "p.(Val90Leu)" "" "0000566351" "00017611" "50" "413" "0" "413" "0" "c.413G>A" "r.(?)" "p.(Arg138His)" "" "0000566352" "00017611" "30" "469" "0" "469" "0" "c.469G>A" "r.(?)" "p.(Asp157Asn)" "" "0000566353" "00017611" "50" "517" "155" "517" "155" "c.517+155C>T" "r.(=)" "p.(=)" "" "0000617404" "00017611" "50" "209" "5" "209" "5" "c.209+5dup" "r.spl?" "p.?" "" "0000617405" "00017611" "50" "349" "-7" "349" "-7" "c.349-7C>G" "r.(=)" "p.(=)" "" "0000623947" "00017611" "30" "198" "0" "198" "0" "c.198C>T" "r.(?)" "p.(Pro66=)" "" "0000660524" "00017611" "90" "404" "0" "404" "0" "c.404T>C" "r.(?)" "p.(Leu135Pro)" "" "0000660525" "00017611" "90" "517" "177" "517" "177" "c.517+177dup" "r.(=)" "p.(?)" "" "0000660526" "00017611" "90" "-5835" "0" "115" "936" "c.-5835_115+936delins-2010_-1853inv" "r.0?" "p.0?" "" "0000660527" "00017611" "90" "383" "0" "383" "0" "c.383C>T" "r.(?)" "p.(Pro128Leu)" "" "0000660528" "00017611" "90" "279" "0" "280" "0" "c.279_280del" "r.(?)" "p.(Leu94Valfs*320)" "" "0000660529" "00017611" "90" "448" "0" "448" "0" "c.448del" "r.(?)" "p.(Ala150Profs*2)" "" "0000660545" "00017611" "90" "223" "0" "223" "0" "c.223G>A" "r.(?)" "p.(Glu75Lys)" "" "0000660546" "00017611" "90" "223" "0" "223" "0" "c.223G>A" "r.(?)" "p.(Glu75Lys)" "" "0000660547" "00017611" "90" "267" "0" "267" "0" "c.267G>A" "r.(?)" "p.(Trp89*)" "" "0000660551" "00017611" "90" "295" "0" "295" "0" "c.295G>A" "r.(?)" "p.(Glu99Lys)" "" "0000681313" "00017611" "30" "62" "0" "62" "0" "c.62T>C" "r.(?)" "p.(Val21Ala)" "" "0000808730" "00017611" "50" "176" "0" "176" "0" "c.176A>G" "r.(?)" "p.(Asn59Ser)" "" "0000808731" "00017611" "30" "517" "122" "517" "122" "c.517+122C>T" "r.(=)" "p.(=)" "" "0000816760" "00017611" "70" "295" "0" "295" "0" "c.295G>A" "r.(?)" "p.(Glu99Lys)" "" "0000824741" "00017611" "50" "280" "0" "281" "0" "c.280_281del" "r.(?)" "p.(Leu94ValfsTer320)" "" "0000824804" "00017611" "50" "295" "0" "295" "0" "c.295G>A" "r.(?)" "p.(Glu99Lys)" "" "0000826493" "00017611" "90" "598" "1" "598" "1" "c.598+1delG" "r.(?)" "p.?" "5" "0000829950" "00017611" "90" "234" "0" "237" "0" "c.234_237del" "r.(?)" "p.(Ser78Argfs*67)" "3" "0000829951" "00017611" "90" "280" "0" "281" "0" "c.280_281del" "r.(?)" "p.(Leu94Valfs*320)" "3" "0000894826" "00017611" "30" "116" "-20" "116" "-20" "c.116-20C>T" "r.(=)" "p.(=)" "" "0000916008" "00017611" "70" "279" "0" "280" "0" "c.279_280del" "r.(?)" "p.(Leu94Valfs*86)" "3" "0000916315" "00017611" "50" "223" "0" "223" "0" "c.223G>A" "r.(?)" "p.(Glu75Lys)" "3" "0000916316" "00017611" "50" "421" "0" "421" "0" "c.421C>T" "r.(?)" "p.(Arg141Cys)" "4" "0000916513" "00017611" "90" "210" "-2" "210" "-2" "c.210-2A>G" "r.spl?" "p.(?)" "2i" "0000931013" "00017611" "50" "391" "0" "391" "0" "c.391G>A" "r.(?)" "p.(Gly131Arg)" "" "0000951227" "00017611" "30" "518" "-20" "518" "-20" "c.518-20A>C" "r.(=)" "p.(=)" "" "0000958076" "00017611" "90" "255" "0" "255" "0" "c.255G>A" "r.(?)" "p.(Trp85Ter)" "" "0000959281" "00017611" "50" "469" "0" "469" "0" "c.469G>A" "r.(?)" "p.(Asp157Asn)" "" "0000969595" "00017611" "30" "210" "-14" "210" "-14" "c.210-14C>T" "r.(=)" "p.(=)" "" "0001015753" "00017611" "30" "420" "0" "420" "0" "c.420G>A" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 24 "{{screeningid}}" "{{variantid}}" "0000208626" "0000438545" "0000208626" "0000438546" "0000297843" "0000660524" "0000297843" "0000660529" "0000297844" "0000660525" "0000297845" "0000660526" "0000297846" "0000660527" "0000297847" "0000660528" "0000297848" "0000660545" "0000297849" "0000660546" "0000297850" "0000660547" "0000297851" "0000660551" "0000388300" "0000816760" "0000393919" "0000824741" "0000393919" "0000824804" "0000395237" "0000826493" "0000397890" "0000829950" "0000397890" "0000829951" "0000431058" "0000916008" "0000431258" "0000916315" "0000431258" "0000916316" "0000431386" "0000916513" "0000448590" "0000958076" "0000449081" "0000959281"