### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = POC1B)
# 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}}"
"POC1B" "POC1 centriolar protein homolog B (Chlamydomonas)" "12" "q21.33" "unknown" "NG_041783.1" "UD_132319661688" "" "https://www.LOVD.nl/POC1B" "" "1" "30836" "282809" "614784" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "http://databases.lovd.nl/shared/refseq/POC1B_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-11-11 10:05:41" "00000" "2025-05-05 21:14:00"
## 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}}"
"00016461" "POC1B" "transcript variant 1" "002" "NM_172240.2" "" "NP_758440.1" "" "" "" "-367" "2872" "1437" "89920039" "89813495" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 11
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00002" "JBTS1" "Joubert syndrome, type 1 (JBTS1)" "AR" "213300" "" "" "" "00006" "2012-05-17 22:47:36" "00006" "2021-12-10 21:51:32"
"00058" "CORD" "dystrophy, cone-rod (CORD)" "" "" "" "" "" "00006" "2012-09-22 11:31:25" "00006" "2020-08-30 09:43:59"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"02116" "USH2A" "Usher syndrome,, type 2A (USH2A)" "AR" "276901" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"02156" "-" "retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness" "" "300455" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"04213" "COD" "dystrophy, cone (COD)" "" "" "" "" "" "00006" "2015-02-27 19:22:18" "" ""
"04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26"
"04222" "PKD" "kidney disease, polycystic (PKD)" "" "" "" "" "" "00006" "2015-03-13 11:12:15" "00006" "2017-11-15 22:09:51"
"04249" "macular dystrophy" "dystrophy, macular" "" "" "" "" "" "00006" "2015-05-04 22:10:58" "00006" "2024-02-15 21:18:39"
"04618" "CORD20" "dystrophy, cone-rod, type 20 (CORD20)" "AR" "615973" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2020-11-11 10:05:13"
"05412" "maculopathy" "maculopathy" "" "" "" "" "" "00006" "2018-03-23 12:21:26" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}" "{{diseaseid}}"
"POC1B" "00058"
"POC1B" "04618"
## Individuals ## Do not remove or alter this header ##
## Count = 46
"{{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}}"
"00016591" "" "" "" "1" "" "00088" "" "" "M" "yes" "Iraq" "" "0" "" "" "" ""
"00227947" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" ""
"00324517" "" "" "" "1" "" "03849" "{PMID:Roosing 2014:25018096}, {DOI:Roosing 2014:10.1016/j.ajhg.2014.06.012}" "2-generation family, 1 affected child (M), unaffected heterozygous carrier parents" "M" "?" "Netherlands" ">60y" "0" "" "treated for hypertension" "" "FamBPatII1"
"00324522" "" "" "" "1" "" "03849" "{PMID: Jin 2018: 29377742}, {PMID: Jin 2018: 10.1080/13816810.2018.1430239}" "3 generation family, 1 affected (F), unaffected heterozygous carrier parents" "F" "?" "China" ">26y" "0" "" "" "" "Fam1PatII1"
"00324526" "" "" "" "1" "" "03960" "{PMID:Kominami 2019:31390656}, {PMID:Kominami 2017:29220607}, {DOI:Kominami 2017:10.1080/13816810.2017.1408846}" "2-generation family, 1 affected, unaffected parents" "M" "no" "Japan" ">20y" "0" "" "" "" "patient"
"00324548" "" "" "" "4" "" "03960" "{PMID:Durlu 2014:24945461}" "4-generation family, 4 affected (3F, M)" "F" "yes" "Turkey" ">61y" "0" "" "" "" "FamPat305"
"00326002" "" "" "" "3" "" "03849" "{PMID:Roosing 2014: 25018096}, {DOI:Roosing 2014: 10.1016/j.ajhg.2014.06.012}" "2-generation family, 3 affected sibs (2F, M), unaffected heterozygous carrier parents" "F" "no" "Turkey" ">16y" "0" "" "" "" "FamAPatII1"
"00326004" "" "" "00326002" "1" "" "03849" "{PMID:Roosing 2014: 25018096}, {DOI:Roosing 2014: 10.1016/j.ajhg.2014.06.012}" "sister" "F" "no" "Turkey" "" "0" "" "" "" "FamAPatII3"
"00326005" "" "" "00326002" "1" "" "03849" "{PMID:Roosing 2014: 25018096}, {DOI:Roosing 2014: 10.1016/j.ajhg.2014.06.012}" "brother" "M" "no" "Turkey" ">09y" "0" "" "" "" "FamAPatII4"
"00326802" "" "" "" "1" "" "03849" "{PMID:Kominami 2017:29220607}, {PMID:Kominami 2017:10.1080/13816810.2017.1408846}" "" "M" "no" "Japan" ">20y" "0" "" "" "Japan" "patient"
"00327547" "" "" "" "5" "" "00006" "{PMID:Beck 2014:25044745}" "2-generation family, 5 affected (2F, 3M)" "F;M" "yes" "Iraq" "" "0" "" "" "" "family"
"00327548" "" "" "" "1" "" "00006" "{PMID:Gu 2016:26650803}" "2-generation family" "" "" "China" "" "0" "" "" "" "family"
"00327549" "" "" "" "2" "" "00000" "{PMID:Kameya 2019:31390656}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "" "Japan" "" "0" "" "" "" "Fam1"
"00327550" "" "" "" "2" "" "00000" "{PMID:Kameya 2019:31390656}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "" "Japan" "" "0" "" "" "" "Fam2"
"00327551" "" "" "" "1" "" "00000" "{PMID:Kameya 2019:31390656}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Japan" "" "0" "" "" "" "Fam3"
"00327552" "" "" "" "1" "" "00000" "{PMID:Kameya 2019:31390656}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Japan" "" "0" "" "" "" "Fam4"
"00327553" "" "" "" "2" "" "00000" "{PMID:Kameya 2019:31390656}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "F" "" "Japan" "" "0" "" "" "" "Fam5"
"00327554" "" "" "" "1" "" "00000" "{PMID:Kameya 2019:31390656}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Japan" "" "0" "" "" "" "Fam6"
"00327555" "" "" "" "1" "" "00000" "{PMID:Kameya 2019:31390656}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Japan" "" "0" "" "" "" "Fam7"
"00331982" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "family" "F" "" "Germany" "" "0" "" "" "" "Pat120"
"00334507" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" ""
"00335195" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "patient" "" "yes" "Netherlands" "" "0" "" "" "" "4252"
"00335196" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "patient" "" "no" "Netherlands" "" "0" "" "" "" "1061"
"00335197" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "patient" "" "no" "Netherlands" "" "0" "" "" "" "3806"
"00371675" "" "" "" "1" "" "01164" "" "" "M" "yes" "" "" "0" "" "" "" "178457"
"00380090" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "" "" "" "" "IR_GH_0181"
"00388264" "" "" "" "1" "" "00000" "{PMID:Toulis 2020:32244552}" "proband" "M" "" "Spain" "" "0" "" "" "" "4.1"
"00388266" "" "" "" "1" "" "00000" "{PMID:Toulis 2020:32244552}" "Affected brother of 4.1" "M" "" "Spain" "" "0" "" "" "" "4.2"
"00389836" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 764, cone-rod dystrophy, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "1120"
"00391179" "" "" "" "1" "" "00000" "{PMID:Gliem 2020:32646556}" "" "F" "" "(Germany)" "" "0" "" "" "" "141"
"00392649" "" "" "" "1" "" "00000" "{PMID:Ma 2021:33691693}" "" "?" "" "Korea" "" "0" "" "" "" "132"
"00392656" "" "" "" "1" "" "00000" "{PMID:Ma 2021:33691693}" "" "?" "" "Korea" "" "0" "" "" "" "145"
"00395890" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F150"
"00408392" "" "" "" "1" "" "03468" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00408393" "" "" "" "1" "" "03468" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00420480" "" "" "" "1" "" "00000" "{PMID:Chen 2021:33608557}" "" "" "" "Taiwan" "" "0" "" "" "" "F150"
"00423250" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2021:34065499}" "" "F" "" "" "" "0" "" "" "" "CRD766"
"00423251" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2021:34065499}" "" "F" "" "" "" "0" "" "" "" "MCM38"
"00423252" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2021:34065499}" "" "M" "" "" "" "0" "" "" "" "CRD668"
"00436588" "" "" "" "1" "" "04552" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "F" "likely" "Mexico" "" "" "" "" "Hispanic" "2471823"
"00436591" "" "" "" "1" "" "04552" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "F" "no" "Mexico" "" "" "" "" "Hispanic" "3306467"
"00447079" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "CRD-668"
"00447082" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "CRD-766"
"00447172" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "MDS-438"
"00447660" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "CD-438"
"00451256" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072948"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 46
"{{individualid}}" "{{diseaseid}}"
"00016591" "00002"
"00227947" "00198"
"00324517" "00058"
"00324522" "04213"
"00324526" "04213"
"00324548" "04618"
"00326002" "00058"
"00326004" "00058"
"00326005" "00058"
"00326802" "04213"
"00327547" "04214"
"00327548" "04222"
"00327549" "04214"
"00327550" "04214"
"00327551" "04214"
"00327552" "04214"
"00327553" "04214"
"00327554" "04214"
"00327555" "04214"
"00331982" "04214"
"00334507" "00198"
"00335195" "00198"
"00335196" "00198"
"00335197" "00198"
"00371675" "04618"
"00380090" "00058"
"00388264" "04214"
"00388266" "04214"
"00389836" "04214"
"00391179" "04214"
"00392649" "04214"
"00392656" "04214"
"00395890" "04214"
"00408392" "05412"
"00408393" "05412"
"00420480" "04214"
"00423250" "04214"
"00423251" "04214"
"00423252" "04214"
"00436588" "02116"
"00436591" "02156"
"00447079" "00198"
"00447082" "00198"
"00447172" "00198"
"00447660" "00198"
"00451256" "04249"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00002, 00058, 00198, 02116, 02156, 04213, 04214, 04222, 04249, 04618, 05412
## Count = 41
"{{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}}"
"0000021242" "00002" "00016591" "00088" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000171938" "00198" "00227947" "01807" "Unknown" "" "HP:0000548 (Cone/cone-rod dystrophy)" "" "" "" "" "" "" "" "" "" "" ""
"0000243070" "00058" "00324517" "03849" "Familial, autosomal dominant" "60y" "14y-reduced visual acuity (HP:0007663), photophobia (HP:0000613), nystagmus HP:0000639), abnormality of colour vision (HP:0000551), 50-59y-reduced visual acuity (HP:0007663), >60y-degenerative changes consisting of RPE atrophy and bone-spicule pigmentations in the periphery of the inferior quadrant, abnormality at the inner-segment ellipsoid zone; 55y-absent rod- and cone-mediated responses on ERG" "14y" "" "reduced visual acuity (HP:0007663), photophobia (HP:0000613), nystagmus (HP:0000639), Abnormality of colour vision (HP:0000551)" "" "" "" "" "" "CORD20" "cone-rod dystrophy" ""
"0000243071" "04213" "00324526" "03960" "Familial, autosomal recessive" "" "see paper; ..., decreased central vision (HP:0007663), extreme photophobia (HP:0000613), progressive visual loss in both eyes (HP:0000529), dyschromatopsia (HP:0007641), absent rod-and cone-mediated responses on ERG (HP:0007688)" "06y" "20y" "photophobia, reduiced visual acuity" "" "" "" "" "" "" "cone dystrophy" ""
"0000243075" "04618" "00324548" "03960" "Familial, autosomal recessive" "61y" "decreased central vision (HP:0007663), dyschromatopsia (HP:0000551) and extreme photophobia (HP:0000613)" "" "" "" "" "" "" "" "" "CORD20" "cone-rod dystrophy" ""
"0000244571" "00058" "00326002" "03849" "Familial, autosomal recessive" "" "reduced visual acuity (HP:0007663), nystagmus (HP:0000639), 9y-absent cone function" "09y" "" "reduced visual acuity (HP:0007663), nystagmus (HP:0000639), 9y-absent cone function" "" "" "" "" "" "CORD20" "cone-rod dystrophy" ""
"0000244572" "00058" "00326005" "03849" "Familial, autosomal recessive" "" "reduced visual acuity (HP:0007663), 6y-absent cone function" "03y" "" "reduced visual acuity (HP:0007663)" "" "" "" "" "" "CORD20" "cone-rod dystrophy" ""
"0000244573" "00058" "00326004" "03849" "Familial, autosomal recessive" "" "11y-reduced visual acuity (HP:0007663)" "10y" "" "reduced visual acuity (HP:0007663)" "" "" "" "" "" "CORD20" "cone-rod dystrophy" ""
"0000244574" "04213" "00324522" "03849" "Familial, autosomal recessive" "" "photophobia (HP:0000613), reduced visual acuity (HP:0007663), paracentral scotoma (HP:0030528)" "" "" "photophobia (HP:0000613)" "" "" "" "" "" "" "cone dystrophy" ""
"0000245278" "04213" "00326802" "03849" "Familial, autosomal recessive" "20y" "photophobia (HP:0000613), progressive visual loss in both eyes (HP:0000529), reduced visual acuity (HP:0007663), Dyschromatopsia (HP:0007641), Absent rod-and cone-mediated responses on ERG (HP:0007688)" "" "" "photophobia (HP:0000613)" "" "" "" "" "" "" "cone dystrophy" ""
"0000245811" "04214" "00327547" "00006" "Familial, autosomal recessive" "" "see paper; ..., Leber congenital amaurosis , Joubert syndrome, polycystic kidney disease" "" "" "" "" "" "" "" "" "" "" ""
"0000245812" "04214" "00327549" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinital dystrophy" ""
"0000245813" "04214" "00327550" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinital dystrophy" ""
"0000245814" "04214" "00327551" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinital dystrophy" ""
"0000245815" "04214" "00327552" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinital dystrophy" ""
"0000245816" "04214" "00327553" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinital dystrophy" ""
"0000245817" "04214" "00327554" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinital dystrophy" ""
"0000245818" "04214" "00327555" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinital dystrophy" ""
"0000250173" "04214" "00331982" "00000" "Familial, autosomal recessive" "49y" "reduced visual acuity; scotopic ERG extinguished; photopic ERG extinguished" "" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000252570" "00198" "00334507" "01807" "Unknown" "" "Vitelliform-like macular lesions (HP:0007677); Macular dystrophy (HP:0007754); Occult macular dystrophy (HP:0030636)" "" "" "" "" "" "" "" "" "" "" ""
"0000252910" "00198" "00335195" "00000" "Unknown" "" "48y-diagnosis visual impairment" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000252911" "00198" "00335196" "00000" "Unknown" "" "14y-diagnosis visual impairment" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000252912" "00198" "00335197" "00000" "Unknown" "" "18y-diagnosis visual impairment" "" "" "" "" "" "" "" "" "" "cone dystrophy" ""
"0000267011" "04618" "00371675" "01164" "Unknown" "" "(+) Visual impairment,(+) Cone/cone-rod dystrophy/ Cone-rod dystrophy, onset at about 12 years, now visual acuity at 10%, parents consanguine (cosuins 1°)" "12y" "" "" "" "" "" "" "" "14y" "" ""
"0000273945" "00058" "00380090" "03508" "Familial, autosomal recessive" "" "HP:0030515,\tHP:0000662,\tHP:0000613,\tHP:0001123,\tHP:0000551,\tHP:0000548" "" "" "" "" "" "" "" "" "" "dystrophy, cone-rod (CORD)" ""
"0000281820" "04214" "00388264" "00000" "Familial, autosomal recessive" "8y" "Reduced photopic and flicker amplitude, best corrected visual acuity right eye/left eye: 20�40/20�50" "3y" "" "" "" "" "" "" "" "cone-rod dystrophy" "cone-rod dystrophy" ""
"0000281822" "04214" "00388266" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "cone-rod dystrophy" ""
"0000283377" "04214" "00389836" "00000" "Familial, autosomal recessive" "25y" "age at genetic diagnosis mentioned" "" "24y" "" "" "" "" "" "" "cone-rod dystrophy" "" ""
"0000284621" "04214" "00391179" "00000" "Unknown" "49y" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000285896" "04214" "00392649" "00000" "Familial, autosomal recessive" "" "initial diagnosis of isolated (sporadic) retinitis pigmentosa redifined to cone-rod dystrophy" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "retinitis pigmentosa" ""
"0000285903" "04214" "00392656" "00000" "Familial, autosomal recessive" "" "initial diagnosis of isolated (sporadic) cone-rod dystrophy redifined to cone-rod dystrophyD" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "cone-rod dystrophy" ""
"0000289052" "04214" "00395890" "00000" "Unknown" "48y4m" "" "45y" "" "" "" "" "" "" "" "cone-rod dystrophy" "" ""
"0000311728" "04214" "00420480" "00000" "Familial, autosomal recessive" "48y4m" "" "45y" "" "" "" "" "" "" "" "cone-rod dystrophy" "" ""
"0000314457" "04214" "00423250" "00000" "Familial, autosomal recessive" "27y" "best corrected visual acuity right/left eye: 1 / 0.125; night blindness: no; photophobia: yes; color vision defect: yes" "2y" "" "nystagmus" "" "" "" "" "" "cone-rod dystrophy" "" ""
"0000314458" "04214" "00423251" "00000" "Familial, autosomal recessive" "24y" "best corrected visual acuity right/left eye: 0.4 / 0.5; night blindness: no; photophobia: yes; color vision defect: no" "22y" "" "reduced visual acuity and contrast" "" "" "" "" "" "cone dystrophy" "" ""
"0000314459" "04214" "00423252" "00000" "Familial, autosomal recessive" "47y" "best corrected visual acuity right/left eye: 0.5 / 0.4; night blindness: not until 47y; photophobia: yes; color vision defect: yes, predominantly tritan defects" "12y" "" "photophobia and scotomas" "" "" "" "" "" "cone-rod dystrophy" "" ""
"0000326740" "02156" "00436591" "04552" "Familial, autosomal recessive" "18y" "Photophobia HP:0000613, Reduced visual acuity HP:0007663, Large central visual field defect HP:0001129, Color vision defect HP: 0000551" "18y" "21y" "18y" "" "" "" "" "" "# 608051" "Retinal dystrophy" ""
"0000336278" "00198" "00447079" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000336281" "00198" "00447082" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000336371" "00198" "00447172" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000336859" "00198" "00447660" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" ""
## Screenings ## Do not remove or alter this header ##
## Count = 46
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000016543" "00016591" "1" "00088" "00088" "2014-05-11 13:10:43" "" "" "SEQ-NG-I" "DNA" "peripheral blood" ""
"0000229033" "00227947" "1" "01807" "01807" "2019-03-15 19:53:53" "" "" "SEQ" "DNA" "" ""
"0000325708" "00324517" "1" "03849" "03849" "2020-12-16 16:51:44" "" "" "SEQ" "DNA" "Blood" "WES"
"0000325713" "00324522" "1" "03849" "03849" "2020-12-17 17:22:13" "" "" "SEQ;SEQ-NG" "DNA" "Blood" ""
"0000325718" "00324526" "1" "03960" "03960" "2020-12-18 10:26:14" "00006" "2021-01-05 14:19:27" "SEQ;SEQ-NG" "DNA" "Blood" "WES"
"0000325740" "00324548" "1" "03960" "03960" "2020-12-18 12:46:19" "" "" "SEQ" "DNA" "Blood" ""
"0000327212" "00326002" "1" "03849" "03849" "2021-01-06 16:36:05" "" "" "SEQ" "DNA" "blood" "WES"
"0000327214" "00326004" "1" "03849" "03849" "2021-01-06 16:49:04" "" "" "SEQ" "DNA" "blood" "WES"
"0000327215" "00326005" "1" "03849" "03849" "2021-01-06 16:57:53" "" "" "SEQ" "DNA" "blood" "WES"
"0000328015" "00326802" "1" "03849" "03849" "2021-01-14 17:12:03" "" "" "SEQ" "DNA" "Blood" ""
"0000328762" "00327547" "1" "00006" "00006" "2021-01-23 14:41:55" "" "" "SEQ-NG" "DNA" "" "WES"
"0000328763" "00327548" "1" "00006" "00006" "2021-01-23 15:43:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000328764" "00327549" "1" "00000" "00006" "2021-01-23 16:11:59" "" "" "SEQ" "DNA" "" ""
"0000328765" "00327550" "1" "00000" "00006" "2021-01-23 16:11:59" "" "" "SEQ" "DNA" "" ""
"0000328766" "00327551" "1" "00000" "00006" "2021-01-23 16:11:59" "" "" "SEQ" "DNA" "" ""
"0000328767" "00327552" "1" "00000" "00006" "2021-01-23 16:11:59" "" "" "SEQ" "DNA" "" ""
"0000328768" "00327553" "1" "00000" "00006" "2021-01-23 16:11:59" "" "" "SEQ" "DNA" "" ""
"0000328769" "00327554" "1" "00000" "00006" "2021-01-23 16:11:59" "" "" "SEQ" "DNA" "" ""
"0000328770" "00327555" "1" "00000" "00006" "2021-01-23 16:11:59" "" "" "SEQ" "DNA" "" ""
"0000333201" "00331982" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" ""
"0000335734" "00334507" "1" "01807" "01807" "2021-03-01 09:42:01" "" "" "SEQ" "DNA" "" ""
"0000336424" "00335195" "1" "00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "WES"
"0000336425" "00335196" "1" "00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "WES"
"0000336426" "00335197" "1" "00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "WES"
"0000372903" "00371675" "1" "01164" "01164" "2021-05-04 12:48:01" "" "" "SEQ-NG-I" "DNA" "" ""
"0000381293" "00380090" "1" "03508" "03508" "2021-08-10 08:45:21" "" "" "SEQ-NG-I" "DNA" "" ""
"0000389503" "00388264" "1" "00000" "03840" "2021-11-03 12:43:56" "" "" "SEQ-NG" "DNA" "blood;saliva;hair;biopsy" "target gene panels or whole exome sequencing (WES)"
"0000389505" "00388266" "1" "00000" "03840" "2021-11-03 12:43:56" "" "" "SEQ-NG" "DNA" "blood" "target gene panels or whole exome sequencing (WES)"
"0000391079" "00389836" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper"
"0000392421" "00391179" "1" "00000" "03840" "2021-11-13 11:00:19" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing"
"0000393896" "00392649" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing"
"0000393903" "00392656" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing"
"0000397129" "00395890" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes"
"0000409649" "00408392" "1" "03468" "03468" "2022-04-20 22:03:38" "" "" "SEQ-NG" "DNA" "" ""
"0000409650" "00408393" "1" "03468" "03468" "2022-04-20 22:18:57" "" "" "SEQ-NG" "DNA" "" ""
"0000421789" "00420480" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes"
"0000424560" "00423250" "1" "00000" "03840" "2022-11-14 15:26:54" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole genome sequencing"
"0000424561" "00423251" "1" "00000" "03840" "2022-11-14 15:26:54" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole genome sequencing"
"0000424562" "00423252" "1" "00000" "03840" "2022-11-14 15:26:54" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole genome sequencing"
"0000438073" "00436588" "1" "04552" "04552" "2023-09-21 22:27:48" "" "" "SEQ-NG-I" "DNA" "" ""
"0000438075" "00436591" "1" "04552" "04552" "2023-09-21 22:59:08" "" "" "SEQ-NG-I" "DNA" "" ""
"0000448656" "00447079" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448659" "00447082" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448749" "00447172" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000449237" "00447660" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000452855" "00451256" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 49
"{{screeningid}}" "{{geneid}}"
"0000016543" "AHI1"
"0000016543" "ARL13B"
"0000016543" "CC2D2A"
"0000016543" "CEP290"
"0000016543" "CSPP1"
"0000016543" "INPP5E"
"0000016543" "KIF7"
"0000016543" "NPHP1"
"0000016543" "OFD1"
"0000016543" "POC1B"
"0000016543" "RPGRIP1L"
"0000016543" "TMEM216"
"0000016543" "TMEM231"
"0000016543" "TMEM67"
"0000325708" "POC1B"
"0000325713" "POC1B"
"0000325718" "POC1B"
"0000325740" "POC1B"
"0000327212" "POC1B"
"0000327214" "POC1B"
"0000327215" "POC1B"
"0000328015" "POC1B"
"0000328764" "POC1B"
"0000328765" "POC1B"
"0000328766" "POC1B"
"0000328767" "POC1B"
"0000328768" "POC1B"
"0000328769" "POC1B"
"0000328770" "POC1B"
"0000333201" "POC1B"
"0000336424" "POC1B"
"0000336425" "POC1B"
"0000336426" "POC1B"
"0000372903" "POC1B"
"0000389503" "POC1B"
"0000389505" "POC1B"
"0000391079" "POC1B"
"0000392421" "POC1B"
"0000393896" "POC1B"
"0000393903" "POC1B"
"0000397129" "POC1B"
"0000409649" "POC1B"
"0000409650" "POC1B"
"0000421789" "POC1B"
"0000424560" "POC1B"
"0000424561" "POC1B"
"0000424562" "POC1B"
"0000438073" "POC1B"
"0000438075" "POC1B"
## 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 = 109
"{{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}}"
"0000036392" "3" "75" "12" "89885848" "89885848" "subst" "0" "00088" "POC1B_000001" "g.89885848C>G" "" "" "" "" "" "Germline" "yes" "rs76216585" "0" "" "" "g.89492071C>G" "" "likely pathogenic" ""
"0000247123" "0" "10" "12" "89891052" "89891052" "subst" "0.000917848" "02330" "POC1B_000015" "g.89891052A>G" "" "" "" "POC1B(NM_172240.3):c.168T>C (p.Y56=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89497275A>G" "" "benign" ""
"0000247172" "0" "30" "12" "89891122" "89891122" "subst" "0" "02330" "POC1B_000016" "g.89891122A>G" "" "" "" "POC1B(NM_172240.3):c.101-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89497345A>G" "" "likely benign" ""
"0000294072" "0" "10" "12" "89814934" "89814934" "subst" "0" "02330" "POC1B_000002" "g.89814934C>T" "" "" "" "POC1B(NM_172240.3):c.1433G>A (p.S478N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89421157C>T" "" "benign" ""
"0000294073" "0" "30" "12" "89814934" "89814934" "subst" "0.0008065" "02330" "POC1B_000003" "g.89814934C>A" "" "" "" "POC1B(NM_172240.3):c.1433G>T (p.S478I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89421157C>A" "" "likely benign" ""
"0000294074" "0" "10" "12" "89864185" "89864185" "subst" "8.53131E-5" "02330" "POC1B_000006" "g.89864185G>A" "" "" "" "POC1B(NM_172240.3):c.763C>T (p.L255=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89470408G>A" "" "benign" ""
"0000294075" "0" "10" "12" "89864162" "89864162" "subst" "0.00163383" "02330" "POC1B_000005" "g.89864162G>A" "" "" "" "POC1B(NM_172240.3):c.786C>T (p.L262=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89470385G>A" "" "benign" ""
"0000294076" "0" "90" "12" "89864137" "89864137" "subst" "2.69721E-5" "02330" "POC1B_000004" "g.89864137C>A" "" "" "" "POC1B(NM_001199777.2):c.684+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89470360C>A" "" "pathogenic" ""
"0000341693" "0" "70" "12" "89885848" "89885848" "subst" "0" "02327" "POC1B_000001" "g.89885848C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89492071C>G" "" "likely pathogenic" ""
"0000342930" "0" "50" "12" "89815012" "89815012" "subst" "2.50409E-5" "02327" "POC1B_000007" "g.89815012C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89421235C>T" "" "VUS" ""
"0000343989" "0" "50" "12" "89865448" "89865448" "subst" "0" "02327" "POC1B_000009" "g.89865448C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89471671C>G" "" "VUS" ""
"0000344765" "0" "90" "12" "89918903" "89918903" "subst" "0" "02327" "POC1B_000014" "g.89918903G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89525126G>A" "" "pathogenic" ""
"0000347607" "0" "50" "12" "89891041" "89891041" "subst" "1.62448E-5" "02327" "POC1B_000013" "g.89891041T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89497264T>C" "" "VUS" ""
"0000349438" "0" "90" "12" "89860653" "89860653" "del" "0" "02327" "POC1B_000008" "g.89860653del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89466876del" "" "pathogenic" ""
"0000350241" "0" "70" "12" "89885842" "89885842" "subst" "0" "02327" "POC1B_000011" "g.89885842A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89492065A>G" "" "likely pathogenic" ""
"0000351429" "0" "90" "12" "89864137" "89864137" "subst" "2.69721E-5" "02327" "POC1B_000004" "g.89864137C>A" "" "" "" "POC1B(NM_001199777.2):c.684+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89470360C>A" "" "pathogenic" ""
"0000351430" "0" "50" "12" "89865509" "89865509" "subst" "0" "02327" "POC1B_000010" "g.89865509A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89471732A>G" "" "VUS" ""
"0000470175" "3" "90" "12" "89818938" "89818939" "dup" "0" "01807" "POC1B_000017" "g.89818938_89818939dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.89425161_89425162dup" "" "pathogenic" ""
"0000549444" "0" "10" "12" "89853398" "89853399" "ins" "0" "02330" "GALNT4_000001" "g.89853398_89853399insC" "" "" "" "POC1B(NM_172240.3):c.1113+16_1113+17insG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89459621_89459622insC" "" "benign" ""
"0000549445" "0" "10" "12" "89853408" "89853408" "subst" "0.741868" "02325" "GALNT4_000002" "g.89853408G>A" "" "" "" "POC1B(NM_172240.3):c.1113+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89459631G>A" "" "benign" ""
"0000549446" "0" "30" "12" "89853443" "89853443" "subst" "0.000500679" "01943" "GALNT4_000003" "g.89853443A>G" "" "" "" "POC1B(NM_172240.2):c.1085T>C (p.M362T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89459666A>G" "" "likely benign" ""
"0000549448" "0" "50" "12" "89865394" "89865394" "subst" "0.000420875" "02330" "GALNT4_000005" "g.89865394G>C" "" "" "" "POC1B(NM_172240.3):c.673C>G (p.Q225E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89471617G>C" "" "VUS" ""
"0000549449" "0" "10" "12" "89866065" "89866074" "del" "0" "02325" "GALNT4_000006" "g.89866065_89866074del" "" "" "" "POC1B(NM_172240.3):c.453-12_453-3delTCTTCTTTCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89472288_89472297del" "" "benign" ""
"0000549453" "0" "10" "12" "89916811" "89916811" "subst" "0.277717" "02325" "GALNT4_000007" "g.89916811C>T" "" "" "" "POC1B(NM_172240.3):c.100+2086G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89523034C>T" "" "benign" ""
"0000549454" "0" "10" "12" "89917518" "89917518" "subst" "0.709931" "02325" "GALNT4_000008" "g.89917518A>G" "" "" "" "POC1B(NM_172240.3):c.100+1379T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89523741A>G" "" "benign" ""
"0000549456" "0" "30" "12" "89919663" "89919663" "subst" "0.000308846" "01943" "GALNT4_000009" "g.89919663C>T" "" "" "" "POC1B(NM_172240.2):c.10G>A (p.A4T), POC1B(NM_172240.3):c.10G>A (p.A4T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89525886C>T" "" "likely benign" ""
"0000614425" "0" "50" "12" "89885761" "89885761" "subst" "3.01992E-5" "01943" "GALNT4_000012" "g.89885761C>T" "" "" "" "POC1B(NM_172240.2):c.404G>A (p.R135H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89491984C>T" "" "VUS" ""
"0000622992" "0" "30" "12" "89819060" "89819060" "subst" "1.62505E-5" "01943" "GALNT4_000010" "g.89819060T>C" "" "" "" "POC1B(NM_172240.2):c.1210A>G (p.T404A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89425283T>C" "" "likely benign" ""
"0000622993" "0" "50" "12" "89819072" "89819072" "subst" "0" "01943" "GALNT4_000011" "g.89819072C>T" "" "" "" "POC1B(NM_172240.2):c.1198G>A (p.E400K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89425295C>T" "" "VUS" ""
"0000679682" "0" "30" "12" "89818992" "89818992" "subst" "1.62485E-5" "01943" "GALNT4_000013" "g.89818992G>A" "" "" "" "POC1B(NM_172240.2):c.1278C>T (p.L426=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000708847" "11" "90" "12" "89891020" "89891022" "del" "0" "03849" "POC1B_000012" "g.89891020_89891022del" "" "{PMID:Roosing 2014:25018096}, {DOI:Roosing 2014:10.1016/j.ajhg.2014.06.012}" "" "" "" "Germline" "?" "" "0" "" "" "g.89497243_89497245del" "" "pathogenic (recessive)" ""
"0000708850" "11" "90" "12" "89864238" "89864238" "subst" "0" "03849" "POC1B_000020" "g.89864238T>C" "" "{PMID:Jin 2018:29377742}, {DOI:Jin 2018:10.1080/13816810.2018.1430239}" "" "" "" "Germline" "?" "" "0" "" "" "g.89470461T>C" "" "pathogenic (recessive)" ""
"0000708857" "21" "90" "12" "89864137" "89864137" "subst" "2.69721E-5" "03849" "POC1B_000004" "g.89864137C>A" "" "{PMID:Roosing 2014:25018096}, {DOI:Roosing 2014:10.1016/j.ajhg.2014.06.012}" "" "" "" "Germline" "" "" "0" "" "" "g.89470360C>A" "" "pathogenic (recessive)" ""
"0000708859" "10" "90" "12" "89815012" "89815012" "subst" "2.50409E-5" "03960" "POC1B_000018" "g.89815012C>T" "" "{PMID:Kominami 2019:31390656}, {PMID:Kominami 2017:29220607}, {DOI:Kominami 2017:10.1080/13816810.2017.1408846}" "" "G1335A" "" "Germline" "" "rs200082142" "0" "" "" "g.89421235C>T" "" "likely pathogenic (recessive)" ""
"0000708882" "3" "90" "12" "89885848" "89885848" "subst" "0" "03960" "POC1B_000001" "g.89885848C>G" "" "{PMID:Durlu 2014:24945461}" "" "g.89492071C>G" "not in 113 control individuals" "Germline" "yes" "" "0" "" "" "g. 89492071C>G" "" "pathogenic (recessive)" ""
"0000710798" "21" "90" "12" "89860592" "89860592" "subst" "0" "03960" "POC1B_000021" "g.89860592G>T" "" "{PMID:Kominami 2019:31390656}, {PMID:Kominami 2017:29220607}, {DOI:Kominami 2017:10.1080/13816810.2017.1408846}" "" "C987A" "" "Germline" "" "" "0" "" "" "g.89466815G>T" "" "pathogenic (recessive)" ""
"0000710900" "3" "90" "12" "89885848" "89885848" "subst" "0" "03849" "POC1B_000001" "g.89885848C>G" "" "{PMID:Roosing 2014: 25018096}, {DOI:Roosing 2014: 10.1016/j.ajhg.2014.06.012}" "" "" "" "Germline" "yes" "" "0" "" "" "g.89492071C>G" "" "pathogenic (recessive)" ""
"0000710902" "3" "90" "12" "89885848" "89885848" "subst" "0" "03849" "POC1B_000001" "g.89885848C>G" "" "{PMID:Roosing 2014: 25018096}, {DOI:Roosing 2014: 10.1016/j.ajhg.2014.06.012}" "" "" "" "Germline" "yes" "" "0" "" "" "g.89492071C>G" "" "pathogenic (recessive)" ""
"0000710903" "3" "90" "12" "89885848" "89885848" "subst" "0" "03849" "POC1B_000001" "g.89885848C>G" "" "{PMID:Roosing 2014: 25018096}, {DOI:Roosing 2014: 10.1016/j.ajhg.2014.06.012}" "" "" "" "Germline" "yes" "" "0" "" "" "g.89492071C>G" "" "pathogenic (recessive)" ""
"0000711016" "21" "90" "12" "89815013" "89815013" "subst" "2.92652E-5" "03849" "POC1B_000019" "g.89815013G>A" "" "{PMID:Jin 2018:29377742}, {PMID:Jin 2018:10.1080/13816810.2018.1430239}" "" "" "" "Germline" "" "" "0" "" "" "g.89421236G>A" "" "pathogenic (recessive)" ""
"0000711846" "10" "90" "12" "89815012" "89815012" "subst" "2.50409E-5" "03849" "POC1B_000007" "g.89815012C>T" "" "{PMID:Kominami 2017:29220607}, {PMID:Kominami 2017:10.1080/13816810.2017.1408846}" "" "G1355A" "" "Germline" "" "" "0" "" "" "g.89421235C>T" "" "pathogenic (recessive)" ""
"0000711872" "21" "90" "12" "89860592" "89860592" "subst" "0" "03849" "POC1B_000021" "g.89860592G>T" "" "{PMID:Kominami 2017:29220607}, {PMID:Kominami 2017:10.1080/13816810.2017.1408846}" "" "C987A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000712792" "0" "70" "12" "89885848" "89885848" "subst" "0" "00006" "POC1B_000001" "g.89885848C>G" "" "{PMID:Beck 2014:25044745}" "" "" "" "Germline" "yes" "" "0" "" "" "g.89492071C>G" "" "likely pathogenic (recessive)" ""
"0000712807" "3" "50" "12" "89885848" "89885848" "subst" "0" "00000" "POC1B_000001" "g.89885848C>G" "" "{PMID:Beck 2014:25044745}" "" "" "" "Germline" "" "" "0" "" "" "g.89492071C>G" "" "VUS" ""
"0000712850" "3" "70" "12" "0" "0" "" "0" "00006" "ALX1_000001" "g.?" "" "{PMID:Gu 2016:26650803}" "" "T246M" "variant not possible" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000712851" "11" "90" "12" "89885809" "89885809" "subst" "4.11967E-6" "00000" "POC1B_000022" "g.89885809G>A" "" "{PMID:Kameya 2019:31390656}" "" "" "" "Germline" "yes" "" "0" "" "" "g.89492032G>A" "" "pathogenic (recessive)" ""
"0000712852" "11" "90" "12" "89885809" "89885809" "subst" "4.11967E-6" "00000" "POC1B_000022" "g.89885809G>A" "" "{PMID:Kameya 2019:31390656}" "" "" "" "Germline" "yes" "" "0" "" "" "g.89492032G>A" "" "pathogenic (recessive)" ""
"0000712853" "21" "90" "12" "89860592" "89860592" "subst" "0" "00000" "POC1B_000021" "g.89860592G>T" "" "{PMID:Kameya 2019:31390656}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000712854" "3" "90" "12" "89885809" "89885809" "subst" "4.11967E-6" "00000" "POC1B_000022" "g.89885809G>A" "" "{PMID:Kameya 2019:31390656}" "" "" "" "Germline" "" "" "0" "" "" "g.89492032G>A" "" "pathogenic (recessive)" ""
"0000712855" "3" "90" "12" "89885809" "89885809" "subst" "4.11967E-6" "00000" "POC1B_000022" "g.89885809G>A" "" "{PMID:Kameya 2019:31390656}" "" "" "" "Germline" "" "" "0" "" "" "g.89492032G>A" "" "pathogenic (recessive)" ""
"0000712856" "11" "90" "12" "89885809" "89885809" "subst" "4.11967E-6" "00000" "POC1B_000022" "g.89885809G>A" "" "{PMID:Kameya 2019:31390656}" "" "" "" "Germline" "" "" "0" "" "" "g.89492032G>A" "" "pathogenic (recessive)" ""
"0000712857" "3" "90" "12" "89885809" "89885809" "subst" "4.11967E-6" "00000" "POC1B_000022" "g.89885809G>A" "" "{PMID:Kameya 2019:31390656}" "" "" "" "Germline" "" "" "0" "" "" "g.89492032G>A" "" "pathogenic (recessive)" ""
"0000712858" "21" "90" "12" "89885828" "89885828" "subst" "0" "00006" "POC1B_000023" "g.89885828C>G" "" "{PMID:Kameya 2019:31390656}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000712859" "21" "90" "12" "89815012" "89815012" "subst" "2.50409E-5" "00006" "POC1B_000007" "g.89815012C>T" "" "{PMID:Kameya 2019:31390656}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000712860" "20" "90" "12" "89815012" "89815012" "subst" "2.50409E-5" "00006" "POC1B_000007" "g.89815012C>T" "" "{PMID:Kameya 2019:31390656}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000712861" "21" "90" "12" "89815012" "89815012" "subst" "2.50409E-5" "00006" "POC1B_000007" "g.89815012C>T" "" "{PMID:Kameya 2019:31390656}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000724295" "0" "70" "12" "89864140" "89864140" "dup" "0" "02329" "GALNT4_000004" "g.89864140dup" "" "" "" "POC1B(NM_172240.3):c.808dupA (p.T270Nfs*31)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000730625" "3" "90" "12" "89885848" "89885848" "subst" "0" "00000" "POC1B_000001" "g.89885848C>G" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.89492071C>G" "" "pathogenic (recessive)" ""
"0000734527" "0" "70" "12" "89853822" "89853822" "subst" "0" "01807" "POC1B_000024" "g.89853822A>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000735699" "3" "70" "12" "89885842" "89885842" "subst" "0" "00000" "POC1B_000011" "g.89885842A>G" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.89492065A>G" "" "likely pathogenic" ""
"0000735700" "3" "90" "12" "89864137" "89864137" "subst" "2.69721E-5" "00000" "POC1B_000004" "g.89864137C>A" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.89470360C>A" "" "pathogenic" ""
"0000735701" "1" "70" "12" "89918903" "89918903" "subst" "0" "00000" "POC1B_000014" "g.89918903G>A" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.89525126G>A" "" "likely pathogenic" ""
"0000735796" "2" "70" "12" "89865509" "89865509" "subst" "0" "00000" "POC1B_000010" "g.89865509A>G" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.89471732A>G" "" "likely pathogenic" ""
"0000780191" "3" "70" "12" "89891052" "89891052" "subst" "0" "01164" "POC1B_000025" "g.89891052A>C" "" "" "" "" "ACMG: PVS1, PM2_SUP" "Germline" "?" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG"
"0000794689" "0" "70" "12" "89860699" "89860699" "subst" "2.50056E-5" "03508" "POC1B_000027" "g.89860699C>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG"
"0000794690" "0" "70" "12" "89815031" "89815032" "del" "0" "03508" "POC1B_000026" "g.89815031_89815032del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.89421254_89421255del" "" "VUS" "ACMG"
"0000805970" "0" "30" "12" "89861383" "89861383" "subst" "0.000235234" "02330" "GALNT4_000014" "g.89861383G>C" "" "" "" "POC1B(NM_172240.3):c.879+11C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000818589" "0" "90" "12" "89891122" "89891122" "subst" "6.94813E-5" "00000" "POC1B_000029" "g.89891122A>C" "" "{PMID:Toulis 2020:32244552}" "" "c.101-3T>G" "2 nt insertion in RNA resulting in exon2 skipping" "Germline" "yes" "" "0" "" "" "g.89497345A>C" "" "pathogenic" ""
"0000818591" "0" "90" "12" "89891122" "89891122" "subst" "6.94813E-5" "00000" "POC1B_000029" "g.89891122A>C" "" "{PMID:Toulis 2020:32244552}" "" "c.101-3T>G" "2 nt insertion in RNA resulting in exon2 skipping" "Germline" "yes" "" "0" "" "" "g.89497345A>C" "" "pathogenic" ""
"0000818594" "0" "90" "12" "89818933" "89818933" "subst" "4.06805E-6" "00000" "POC1B_000028" "g.89818933C>T" "" "{PMID:Toulis 2020:32244552}" "" "c.1332+5G>A" "" "Germline" "yes" "" "0" "" "" "g.89425156C>T" "" "pathogenic" ""
"0000818596" "0" "90" "12" "89818933" "89818933" "subst" "4.06805E-6" "00000" "POC1B_000028" "g.89818933C>T" "" "{PMID:Toulis 2020:32244552}" "" "c.1332+5G>A" "" "Germline" "yes" "" "0" "" "" "g.89425156C>T" "" "pathogenic" ""
"0000820424" "1" "70" "12" "89865943" "89865943" "subst" "0" "00000" "POC1B_000030" "g.89865943A>C" "" "{PMID:Weisschuh 2020:32531858}" "" "POC1B, variant 1: c.560+2T>G/p.?, variant 2: c.560+2T>G/p.?" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.89472166A>C" "" "likely pathogenic" ""
"0000822712" "0" "70" "12" "89885848" "89885848" "subst" "0" "00000" "POC1B_000001" "g.89885848C>G" "" "{PMID:Gliem 2020:32646556}" "" "POC1B c.317G>C, p.Arg106Pro" "heterozygous" "Unknown" "?" "" "0" "" "" "g.89492071C>G" "" "likely pathogenic" ""
"0000824718" "0" "50" "12" "89815013" "89815013" "subst" "2.92652E-5" "00000" "POC1B_000019" "g.89815013G>A" "" "{PMID:Ma 2021:33691693}" "" "POC1B c.C1354T, p.R452X" "marked as possibly causative, single heterozygous change in a recessive gene, heterozygous" "Unknown" "?" "" "0" "" "" "g.89421236G>A" "" "VUS" "ACMG"
"0000824725" "0" "90" "12" "89815013" "89815013" "subst" "2.92652E-5" "00000" "POC1B_000019" "g.89815013G>A" "" "{PMID:Ma 2021:33691693}" "" "POC1B c.C1354T, p.R452X" "marked as causative, heterozygous" "Unknown" "?" "" "0" "" "" "g.89421236G>A" "" "pathogenic" "ACMG"
"0000824799" "0" "50" "12" "89885809" "89885809" "subst" "4.11967E-6" "00000" "POC1B_000022" "g.89885809G>A" "" "{PMID:Ma 2021:33691693}" "" "POC1B c.C356T, p.T119I" "marked as causative, heterozygous" "Unknown" "?" "" "0" "" "" "g.89492032G>A" "" "VUS" "ACMG"
"0000828875" "0" "90" "12" "89885873" "89885873" "dup" "0" "00000" "POC1B_000031" "g.89885873dup" "" "{PMID:Chen 2021:43360855}" "" "POC1B c.[293dupT];[?], V1: c.293dupT, (p.Leu98PhefsTer24)" "single heterozygous variant in a recessive disease: a variant on the other allele is expected but not yet identified" "Unknown" "?" "" "0" "" "" "g.89492096dup" "" "pathogenic" "ACMG"
"0000846842" "0" "90" "12" "89891076" "89891076" "del" "1.62499E-5" "03468" "POC1B_000032" "g.89891076del" "" "" "" "144delG" "" "De novo" "" "" "0" "" "" "g.89497299del" "" "pathogenic (dominant)" "ACMG"
"0000846844" "0" "90" "12" "89891122" "89891122" "subst" "0" "03468" "POC1B_000029" "g.89891122A>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.89497345A>C" "" "pathogenic" ""
"0000853545" "0" "30" "12" "89853401" "89853402" "ins" "0" "02330" "GALNT4_000015" "g.89853401_89853402insC" "" "" "" "POC1B(NM_172240.3):c.1113+13_1113+14insG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000890829" "0" "10" "12" "89814934" "89814934" "subst" "0.0008065" "02326" "POC1B_000003" "g.89814934C>A" "" "" "" "POC1B(NM_172240.3):c.1433G>T (p.S478I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000890830" "0" "10" "12" "89853398" "89853399" "ins" "0" "02326" "GALNT4_000001" "g.89853398_89853399insC" "" "" "" "POC1B(NM_172240.3):c.1113+16_1113+17insG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000890831" "0" "30" "12" "89853518" "89853518" "del" "0" "02326" "GALNT4_000016" "g.89853518del" "" "" "" "POC1B(NM_172240.3):c.1033-15delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000890832" "0" "90" "12" "89864149" "89864149" "subst" "2.04945E-5" "02327" "GALNT4_000017" "g.89864149G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000890833" "0" "30" "12" "89865394" "89865394" "subst" "0.000420875" "02326" "GALNT4_000005" "g.89865394G>C" "" "" "" "POC1B(NM_172240.3):c.673C>G (p.Q225E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000890834" "0" "90" "12" "89885741" "89885741" "subst" "4.54756E-6" "02327" "GALNT4_000018" "g.89885741G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000890835" "0" "30" "12" "89918984" "89918984" "subst" "4.20592E-6" "02326" "GALNT4_000019" "g.89918984G>A" "" "" "" "POC1B(NM_172240.3):c.16-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000896585" "0" "90" "12" "89885747" "89885747" "dup" "0" "00000" "POC1B_000031" "g.89885747dup" "Taiwan Biobank: 0; GnomAD_exome_East: 0.000359; GnomAD_All: 0.0000264" "{PMID:Chen 2021:33608557}" "" "POC1B c.[293dupT];[?]; p.(Leu98PhefsTer24)" "different transcript NM_001199777.2:c.293dup, p.(Leu98PhefsTer24); heterozygous; single variant in a recessive gene, no second allele found" "Germline" "yes" "" "0" "" "" "g.89491970dup" "" "pathogenic" ""
"0000900639" "3" "90" "12" "89818938" "89818939" "dup" "0" "00000" "POC1B_000017" "g.89818938_89818939dup" "" "{PMID:Weisschuh 2021:34065499}" "" "POC1B c.1331_1332dup, p.(T445Rfs*10)" "homozygous" "Germline" "yes" "" "0" "" "" "g.89425161_89425162dup" "" "pathogenic" "ACMG"
"0000900640" "1" "90" "12" "89864137" "89864137" "subst" "2.69721E-5" "00000" "POC1B_000004" "g.89864137C>A" "" "{PMID:Weisschuh 2021:34065499}" "" "POC1B c.810+1G>T, p.(V2266fs*30) and p.(Ft88Dfs*73)" "heterozygous, confirmed on mRNA level, skipping of exons 6 and 7" "Germline" "yes" "" "0" "" "" "g.89470360C>A" "" "pathogenic" "ACMG"
"0000900641" "1" "90" "12" "89865509" "89865509" "subst" "0" "00000" "POC1B_000010" "g.89865509A>G" "" "{PMID:Weisschuh 2021:34065499}" "" "POC1B c.561-3T>C, p.(F188Sfs*6)" "heterozygous, confirmed on mRNA level, skipping of exon 6" "Germline" "yes" "" "0" "" "" "g.89471732A>G" "" "pathogenic" "ACMG"
"0000900642" "2" "90" "12" "89853822" "89853822" "subst" "0" "00000" "POC1B_000024" "g.89853822A>T" "" "{PMID:Weisschuh 2021:34065499}" "" "POC1B c.1033-327T>A, p.(I345Afs*9)" "heterozygous; pseudoexon of 28 nucleotides spliced between the canonical exons 9 and 10" "Germline" "yes" "" "0" "" "" "g.89460045A>T" "" "pathogenic" "ACMG"
"0000900643" "2" "90" "12" "89815027" "89815027" "subst" "0" "00000" "POC1B_000033" "g.89815027G>C" "" "{PMID:Weisschuh 2021:34065499}" "" "POC1B c.1340C>G, p.(S447*)" "heterozygous, confirmed on mRNA level" "Germline" "yes" "" "0" "" "" "g.89421250G>C" "" "pathogenic" "ACMG"
"0000913964" "0" "30" "12" "89864185" "89864185" "subst" "8.53131E-5" "02326" "POC1B_000006" "g.89864185G>A" "" "" "" "POC1B(NM_172240.3):c.763C>T (p.L255=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000913965" "0" "30" "12" "89891052" "89891052" "subst" "0.000917848" "02326" "POC1B_000015" "g.89891052A>G" "" "" "" "POC1B(NM_172240.3):c.168T>C (p.Y56=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000913966" "0" "30" "12" "89919663" "89919663" "subst" "0.000308846" "02326" "GALNT4_000009" "g.89919663C>T" "" "" "" "POC1B(NM_172240.2):c.10G>A (p.A4T), POC1B(NM_172240.3):c.10G>A (p.A4T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000933596" "0" "90" "12" "89891076" "89891076" "del" "1.62499E-5" "04552" "POC1B_000032" "g.89891076del" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "rs753599044" "0" "" "" "g.89497299del" "{CV:1029264}" "pathogenic" "ACMG"
"0000933598" "0" "90" "12" "89865390" "89865390" "subst" "4.14903E-6" "04552" "POC1B_000034" "g.89865390C>T" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "rs909373397" "0" "" "" "g.89471613C>T" "{CV: 859104}" "pathogenic" "ACMG"
"0000933599" "0" "90" "12" "89885845" "89885845" "subst" "0" "04552" "POC1B_000035" "g.89885845C>A" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "" "0" "" "" "g.89492068C>A" "{CV: 2109466}" "VUS" "ACMG"
"0000958142" "0" "90" "12" "89815027" "89815027" "subst" "0" "00006" "POC1B_000033" "g.89815027G>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PM3" "Germline" "" "" "0" "" "" "g.89421250G>C" "" "pathogenic (recessive)" "ACMG"
"0000958145" "3" "70" "12" "89818938" "89818939" "dup" "0" "00006" "POC1B_000017" "g.89818938_89818939dup" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_MODERATE, PP5_STRONG" "Germline" "" "" "0" "" "" "g.89425161_89425162dup" "987339" "likely pathogenic (recessive)" "ACMG"
"0000958235" "0" "70" "12" "89853822" "89853822" "subst" "0" "00006" "POC1B_000024" "g.89853822A>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PS3, PM3, BP4" "Germline" "" "" "0" "" "" "g.89460045A>T" "" "likely pathogenic (recessive)" "ACMG"
"0000958493" "0" "70" "12" "89865509" "89865509" "subst" "0" "00006" "POC1B_000010" "g.89865509A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PM3, PS3, BP4" "Germline" "" "" "0" "" "" "g.89471732A>G" "" "likely pathogenic (recessive)" "ACMG"
"0000958573" "0" "70" "12" "89864137" "89864137" "subst" "2.69721E-5" "00006" "POC1B_000004" "g.89864137C>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1" "Germline" "" "" "0" "" "" "g.89470360C>A" "" "likely pathogenic (recessive)" "ACMG"
"0000959447" "0" "70" "12" "89864154" "89864154" "del" "0" "00006" "POC1B_000036" "g.89864154del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.89470377del" "" "likely pathogenic (recessive)" "ACMG"
"0000987200" "0" "70" "12" "89891085" "89891085" "subst" "0" "00006" "POC1B_000037" "g.89891085C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.89497308C>T" "" "likely pathogenic" "ACMG"
"0001039505" "0" "50" "12" "89860672" "89860672" "subst" "8.97798E-5" "01804" "GALNT4_000020" "g.89860672C>T" "" "" "" "POC1B(NM_172240.3):c.907G>A (p.(Glu303Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001039506" "0" "50" "12" "89866018" "89866018" "subst" "0" "01804" "GALNT4_000021" "g.89866018T>C" "" "" "" "POC1B(NM_172240.3):c.487A>G (p.(Ser163Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001039507" "0" "30" "12" "89919653" "89919653" "subst" "0" "01804" "GALNT4_000022" "g.89919653C>T" "" "" "" "POC1B(NM_172240.3):c.15+5G>A" "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 POC1B
## Count = 109
"{{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}}"
"0000036392" "00016461" "75" "317" "0" "317" "0" "c.317G>C" "r.(?)" "p.(Arg106Pro)" "4"
"0000247123" "00016461" "10" "168" "0" "168" "0" "c.168T>C" "r.(?)" "p.(Tyr56=)" ""
"0000247172" "00016461" "30" "101" "-3" "101" "-3" "c.101-3T>C" "r.spl?" "p.?" ""
"0000294072" "00016461" "10" "1433" "0" "1433" "0" "c.1433G>A" "r.(?)" "p.(Ser478Asn)" ""
"0000294073" "00016461" "30" "1433" "0" "1433" "0" "c.1433G>T" "r.(?)" "p.(Ser478Ile)" ""
"0000294074" "00016461" "10" "763" "0" "763" "0" "c.763C>T" "r.(?)" "p.(Leu255=)" ""
"0000294075" "00016461" "10" "786" "0" "786" "0" "c.786C>T" "r.(?)" "p.(Leu262=)" ""
"0000294076" "00016461" "90" "810" "1" "810" "1" "c.810+1G>T" "r.spl?" "p.?" ""
"0000341693" "00016461" "70" "317" "0" "317" "0" "c.317G>C" "r.(?)" "p.(Arg106Pro)" ""
"0000342930" "00016461" "50" "1355" "0" "1355" "0" "c.1355G>A" "r.(?)" "p.(Arg452Gln)" ""
"0000343989" "00016461" "50" "619" "0" "619" "0" "c.619G>C" "r.(?)" "p.(Asp207His)" ""
"0000344765" "00016461" "90" "94" "0" "94" "0" "c.94C>T" "r.(?)" "p.(Gln32Ter)" ""
"0000347607" "00016461" "50" "179" "0" "179" "0" "c.179A>G" "r.(?)" "p.(Lys60Arg)" ""
"0000349438" "00016461" "90" "927" "0" "927" "0" "c.927del" "r.(?)" "p.(Thr310ProfsTer34)" ""
"0000350241" "00016461" "70" "323" "0" "323" "0" "c.323T>C" "r.(?)" "p.(Val108Ala)" ""
"0000351429" "00016461" "90" "810" "1" "810" "1" "c.810+1G>T" "r.spl?" "p.?" ""
"0000351430" "00016461" "50" "561" "-3" "561" "-3" "c.561-3T>C" "r.spl?" "p.?" ""
"0000470175" "00016461" "90" "1331" "0" "1332" "0" "c.1331_1332dup" "r.(?)" "p.(Thr445Argfs*10)" ""
"0000549444" "00016461" "10" "1113" "16" "1113" "17" "c.1113+16_1113+17insG" "r.(=)" "p.(=)" ""
"0000549445" "00016461" "10" "1113" "7" "1113" "7" "c.1113+7C>T" "r.(=)" "p.(=)" ""
"0000549446" "00016461" "30" "1085" "0" "1085" "0" "c.1085T>C" "r.(?)" "p.(Met362Thr)" ""
"0000549448" "00016461" "50" "673" "0" "673" "0" "c.673C>G" "r.(?)" "p.(Gln225Glu)" ""
"0000549449" "00016461" "10" "453" "-12" "453" "-3" "c.453-12_453-3del" "r.spl?" "p.?" ""
"0000549453" "00016461" "10" "100" "2086" "100" "2086" "c.100+2086G>A" "r.(=)" "p.(=)" ""
"0000549454" "00016461" "10" "100" "1379" "100" "1379" "c.100+1379T>C" "r.(=)" "p.(=)" ""
"0000549456" "00016461" "30" "10" "0" "10" "0" "c.10G>A" "r.(?)" "p.(Ala4Thr)" ""
"0000614425" "00016461" "50" "404" "0" "404" "0" "c.404G>A" "r.(?)" "p.(Arg135His)" ""
"0000622992" "00016461" "30" "1210" "0" "1210" "0" "c.1210A>G" "r.(?)" "p.(Thr404Ala)" ""
"0000622993" "00016461" "50" "1198" "0" "1198" "0" "c.1198G>A" "r.(?)" "p.(Glu400Lys)" ""
"0000679682" "00016461" "30" "1278" "0" "1278" "0" "c.1278C>T" "r.(?)" "p.(Leu426=)" ""
"0000708847" "00016461" "90" "199" "0" "201" "0" "c.199_201del" "r.(?)" "p.Gln67del" ""
"0000708850" "00016461" "90" "710" "0" "710" "0" "c.710A>G" "r.(?)" "p.(His237Arg)" ""
"0000708857" "00016461" "90" "810" "1" "810" "1" "c.810+1G>T" "r.[677_810del,561_810del]" "p.[Val666fs,Phe188fs]" "7i"
"0000708859" "00016461" "90" "1355" "0" "1355" "0" "c.1355G>A" "r.(?)" "p.(Arg452Gln)" "12"
"0000708882" "00016461" "90" "317" "0" "317" "0" "c.317G>C" "r.(?)" "p.(Arg106Pro)" ""
"0000710798" "00016461" "90" "987" "0" "987" "0" "c.987C>A" "r.(?)" "p.(Tyr329*)" ""
"0000710900" "00016461" "90" "317" "0" "317" "0" "c.317G>C" "r.(?)" "p.(Arg106Pro)" ""
"0000710902" "00016461" "90" "317" "0" "317" "0" "c.317G>C" "r.(?)" "p.(Arg106Pro)" ""
"0000710903" "00016461" "90" "317" "0" "317" "0" "c.317G>C" "r.(?)" "p.(Arg106Pro)" ""
"0000711016" "00016461" "90" "1354" "0" "1354" "0" "c.1354C>T" "r.(?)" "p.(Arg452*)" ""
"0000711846" "00016461" "90" "1355" "0" "1355" "0" "c.1355G>A" "r.(?)" "p.(Arg452Gln)" ""
"0000711872" "00016461" "90" "987" "0" "987" "0" "c.987C>A" "r.(?)" "p.(Tyr329*)" ""
"0000712792" "00016461" "70" "317" "0" "317" "0" "c.317G>C" "r.(?)" "p.(Arg106Pro)" ""
"0000712807" "00016461" "50" "317" "0" "317" "0" "c.317G>C" "r.(?)" "p.(Arg106Pro)" ""
"0000712850" "00016461" "70" "0" "0" "0" "0" "c.?" "r.?" "p.?" ""
"0000712851" "00016461" "90" "356" "0" "356" "0" "c.356C>T" "r.(?)" "p.(Thr119Ile)" ""
"0000712852" "00016461" "90" "356" "0" "356" "0" "c.356C>T" "r.(?)" "p.(Thr119Ile)" ""
"0000712853" "00016461" "90" "987" "0" "987" "0" "c.987C>A" "r.(?)" "p.(Tyr329*)" ""
"0000712854" "00016461" "90" "356" "0" "356" "0" "c.356C>T" "r.(?)" "p.(Thr119Ile)" ""
"0000712855" "00016461" "90" "356" "0" "356" "0" "c.356C>T" "r.(?)" "p.(Thr119Ile)" ""
"0000712856" "00016461" "90" "356" "0" "356" "0" "c.356C>T" "r.(?)" "p.(Thr119Ile)" ""
"0000712857" "00016461" "90" "356" "0" "356" "0" "c.356C>T" "r.(?)" "p.(Thr119Ile)" ""
"0000712858" "00016461" "90" "337" "0" "337" "0" "c.337G>C" "r.(?)" "p.(Asp113His)" ""
"0000712859" "00016461" "90" "1355" "0" "1355" "0" "c.1355G>A" "r.(?)" "p.(Arg452Gln)" ""
"0000712860" "00016461" "90" "1355" "0" "1355" "0" "c.1355G>A" "r.(?)" "p.(Arg452Gln)" ""
"0000712861" "00016461" "90" "1355" "0" "1355" "0" "c.1355G>A" "r.(?)" "p.(Arg452Gln)" ""
"0000724295" "00016461" "70" "808" "0" "808" "0" "c.808dup" "r.(?)" "p.(Thr270AsnfsTer31)" ""
"0000730625" "00016461" "90" "317" "0" "317" "0" "c.317G>C" "r.(?)" "p.(Arg106Pro)" "4"
"0000734527" "00016461" "70" "1033" "-327" "1033" "-327" "c.1033-327T>A" "r.(?)" "p.(?)" ""
"0000735699" "00016461" "70" "323" "0" "323" "0" "c.323T>C" "r.(?)" "p.(Val108Ala)" ""
"0000735700" "00016461" "90" "810" "1" "810" "1" "c.810+1G>T" "r.spl?" "p.?" ""
"0000735701" "00016461" "70" "94" "0" "94" "0" "c.94C>T" "r.(?)" "p.(Gln32*)" ""
"0000735796" "00016461" "70" "561" "-3" "561" "-3" "c.561-3T>C" "r.spl?" "p.?" ""
"0000780191" "00016461" "70" "168" "0" "168" "0" "c.168T>G" "r.(?)" "p.(Tyr56*)" ""
"0000794689" "00016461" "70" "880" "0" "880" "0" "c.880G>T" "r.(?)" "p.(Val294Phe)" ""
"0000794690" "00016461" "70" "1336" "0" "1337" "0" "c.1336_1337del" "r.(?)" "p.(Val446Phefs*13)" ""
"0000805970" "00016461" "30" "879" "11" "879" "11" "c.879+11C>G" "r.(=)" "p.(=)" ""
"0000818589" "00016461" "90" "101" "-3" "101" "-3" "c.101-3T>G" "r.spl" "p.(?)" "2i"
"0000818591" "00016461" "90" "101" "-3" "101" "-3" "c.101-3T>G" "r.spl" "p.(?)" "2i"
"0000818594" "00016461" "90" "1332" "5" "1332" "5" "c.1332+5G>A" "r.spl" "p.(?)" "1i"
"0000818596" "00016461" "90" "1332" "5" "1332" "5" "c.1332+5G>A" "r.spl" "p.(?)" "1i"
"0000820424" "00016461" "70" "560" "2" "560" "2" "c.560+2T>G" "r.spl" "p.(?)" ""
"0000822712" "00016461" "70" "317" "0" "317" "0" "c.317G>C" "r.(?)" "p.(Arg106Pro)" "4"
"0000824718" "00016461" "50" "1354" "0" "1354" "0" "c.1354C>T" "r.(?)" "p.(Arg452Ter)" ""
"0000824725" "00016461" "90" "1354" "0" "1354" "0" "c.1354C>T" "r.(?)" "p.(Arg452Ter)" ""
"0000824799" "00016461" "50" "356" "0" "356" "0" "c.356C>T" "r.(?)" "p.(Thr119Ile)" ""
"0000828875" "00016461" "90" "419" "0" "419" "0" "c.419dup" "r.(?)" "p.(Leu140Phefs*24)" ""
"0000846842" "00016461" "90" "144" "0" "144" "0" "c.144del)" "r.(144del)" "p.(Lys48AsnfsTer16)" ""
"0000846844" "00016461" "90" "101" "-3" "101" "-3" "c.101-3T>G" "r.spl" "p.?" ""
"0000853545" "00016461" "30" "1113" "13" "1113" "14" "c.1113+13_1113+14insG" "r.(=)" "p.(=)" ""
"0000890829" "00016461" "10" "1433" "0" "1433" "0" "c.1433G>T" "r.(?)" "p.(Ser478Ile)" ""
"0000890830" "00016461" "10" "1113" "16" "1113" "17" "c.1113+16_1113+17insG" "r.(=)" "p.(=)" ""
"0000890831" "00016461" "30" "1033" "-15" "1033" "-15" "c.1033-15del" "r.(=)" "p.(=)" ""
"0000890832" "00016461" "90" "799" "0" "799" "0" "c.799C>T" "r.(?)" "p.(Gln267*)" ""
"0000890833" "00016461" "30" "673" "0" "673" "0" "c.673C>G" "r.(?)" "p.(Gln225Glu)" ""
"0000890834" "00016461" "90" "424" "0" "424" "0" "c.424C>T" "r.(?)" "p.(Arg142*)" ""
"0000890835" "00016461" "30" "16" "-3" "16" "-3" "c.16-3C>T" "r.spl?" "p.?" ""
"0000896585" "00016461" "90" "419" "0" "419" "0" "c.419dup" "r.(?)" "p.(Leu140PhefsTer24)" ""
"0000900639" "00016461" "90" "1331" "0" "1332" "0" "c.1331_1332dup" "r.(?)" "p.(Thr445Argfs*10)" ""
"0000900640" "00016461" "90" "810" "1" "810" "1" "c.810+1G>T" "r.spl" "p.[Val2266fs*30,Phe188Aspfs*73]" ""
"0000900641" "00016461" "90" "561" "-3" "561" "-3" "c.561-3T>C" "r.spl" "p.(Phe188Serfs*6)" ""
"0000900642" "00016461" "90" "1033" "-327" "1033" "-327" "c.1033-327T>A" "r.spl" "p.(Ile345Alafs*9)" ""
"0000900643" "00016461" "90" "1340" "0" "1340" "0" "c.1340C>G" "r.(?)" "p.(Ser447*)" ""
"0000913964" "00016461" "30" "763" "0" "763" "0" "c.763C>T" "r.(?)" "p.(Leu255=)" ""
"0000913965" "00016461" "30" "168" "0" "168" "0" "c.168T>C" "r.(?)" "p.(Tyr56=)" ""
"0000913966" "00016461" "30" "10" "0" "10" "0" "c.10G>A" "r.(?)" "p.(Ala4Thr)" ""
"0000933596" "00016461" "90" "144" "0" "144" "0" "c.144del" "r.(?)" "p.(Lys48Asnfs*16)" ""
"0000933598" "00016461" "90" "676" "1" "676" "1" "c.676+1G>A" "r.spl" "p.?" ""
"0000933599" "00016461" "90" "320" "0" "320" "0" "c.320G>T" "r.(?)" "p.(Ser107Ile)" ""
"0000958142" "00016461" "90" "1340" "0" "1340" "0" "c.1340C>G" "r.(?)" "p.(Ser447Ter)" ""
"0000958145" "00016461" "70" "1331" "0" "1332" "0" "c.1331_1332dup" "r.(?)" "p.(Thr445ArgfsTer10)" ""
"0000958235" "00016461" "70" "1033" "-327" "1033" "-327" "c.1033-327T>A" "r.spl" "p.(Ile345Alafs*9)" ""
"0000958493" "00016461" "70" "561" "-3" "561" "-3" "c.561-3T>C" "r.spl" "p.(Phe188Serfs*6)" ""
"0000958573" "00016461" "70" "810" "1" "810" "1" "c.810+1G>T" "r.spl" "p.?" ""
"0000959447" "00016461" "70" "794" "0" "794" "0" "c.794del" "r.(?)" "p.(Thr265AsnfsTer79)" ""
"0000987200" "00016461" "70" "135" "0" "135" "0" "c.135G>A" "r.(?)" "p.(Trp45Ter)" ""
"0001039505" "00016461" "50" "907" "0" "907" "0" "c.907G>A" "r.(?)" "p.(Glu303Lys)" ""
"0001039506" "00016461" "50" "487" "0" "487" "0" "c.487A>G" "r.(?)" "p.(Ser163Gly)" ""
"0001039507" "00016461" "30" "15" "5" "15" "5" "c.15+5G>A" "r.spl?" "p.?" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 65
"{{screeningid}}" "{{variantid}}"
"0000016543" "0000036392"
"0000229033" "0000470175"
"0000325708" "0000708847"
"0000325708" "0000708857"
"0000325713" "0000708850"
"0000325713" "0000711016"
"0000325718" "0000708859"
"0000325718" "0000710798"
"0000325740" "0000708882"
"0000327212" "0000710900"
"0000327214" "0000710902"
"0000327215" "0000710903"
"0000328015" "0000711846"
"0000328015" "0000711872"
"0000328762" "0000712792"
"0000328762" "0000712807"
"0000328763" "0000712850"
"0000328764" "0000712851"
"0000328764" "0000712858"
"0000328765" "0000712852"
"0000328765" "0000712859"
"0000328766" "0000712853"
"0000328766" "0000712860"
"0000328767" "0000712854"
"0000328768" "0000712855"
"0000328769" "0000712856"
"0000328769" "0000712861"
"0000328770" "0000712857"
"0000333201" "0000730625"
"0000335734" "0000734527"
"0000336424" "0000735699"
"0000336425" "0000735700"
"0000336426" "0000735701"
"0000336426" "0000735796"
"0000372903" "0000780191"
"0000381293" "0000794689"
"0000381293" "0000794690"
"0000389503" "0000818589"
"0000389503" "0000818594"
"0000389505" "0000818591"
"0000389505" "0000818596"
"0000391079" "0000820424"
"0000392421" "0000822712"
"0000393896" "0000824718"
"0000393903" "0000824725"
"0000393903" "0000824799"
"0000397129" "0000828875"
"0000409649" "0000846842"
"0000409650" "0000846844"
"0000421789" "0000896585"
"0000424560" "0000900639"
"0000424561" "0000900640"
"0000424561" "0000900642"
"0000424562" "0000900641"
"0000424562" "0000900643"
"0000438073" "0000933596"
"0000438075" "0000933598"
"0000438075" "0000933599"
"0000448656" "0000958142"
"0000448656" "0000958493"
"0000448659" "0000958145"
"0000448749" "0000958235"
"0000448749" "0000958573"
"0000449237" "0000959447"
"0000452855" "0000987200"