### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = PHYH)
# 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}}"
"PHYH" "phytanoyl-CoA 2-hydroxylase" "10" "p13" "unknown" "NG_012862.1" "UD_132118698294" "" "https://www.LOVD.nl/PHYH" "" "1" "8940" "5264" "602026" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases." "" "g" "https://databases.lovd.nl/shared/refseq/PHYH_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2013-02-11 00:00:00" "00006" "2017-06-14 16:55:13" "00000" "2025-02-07 18:57:27"
## 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}}"
"00024267" "PHYH" "transcript variant 1" "001" "NM_006214.3" "" "NP_006205.1" "" "" "" "-88" "1522" "1017" "13342130" "13319796" "00006" "2017-06-14 16:54:08" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 3
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"02048" "Refsum" "Refsum disease (deficiency, phytanic acid oxidase)" "AR" "266500" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"PHYH" "02048"
## Individuals ## Do not remove or alter this header ##
## Count = 15
"{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}"
"00104991" "" "" "" "1" "" "01244" "{PMID:de Castro-Miró 2016:28005958}" "" "M" "no" "Argentina" "" "0" "" "" "" "64ORG1"
"00155523" "" "" "" "1" "" "01243" "Sharon, submitted" "" "M" "yes" "Israel" "" "0" "" "" "Arab-Muslim" ""
"00290002" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00309299" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00328233" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G008151"
"00333352" "" "" "" "1" "" "00000" "{PMID:Costa 2017:28912962}" "" "M" "" "Brazil" "" "0" "" "" "" "Pat5"
"00358964" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "M" "" "Switzerland" "" "0" "" "" "" "Case72007"
"00358969" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "F" "" "Switzerland" "" "0" "" "" "" "Case71133"
"00373848" "" "" "" "1" "" "00000" "{PMID:Zhao 2015:25472526}" "simplex case" "" "" "Northern Ireland" "" "0" "" "" "" "Rp58"
"00374437" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-340"
"00389363" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 233, unclassified / mixed, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "647"
"00389364" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 233, unclassified / mixed, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "648"
"00390343" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G008151"
"00426926" "" "" "" "1" "" "00000" "{PMID:Zhu 2022:35456422}" "family 30, individual 35" "M" "" "" "" "0" "" "" "" "30_35"
"00447207" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "M" "" "Germany" "" "0" "" "" "" "MISC-303"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 15
"{{individualid}}" "{{diseaseid}}"
"00104991" "02048"
"00155523" "02048"
"00290002" "00198"
"00309299" "04214"
"00328233" "04214"
"00333352" "04214"
"00358964" "04214"
"00358969" "04214"
"00373848" "04214"
"00374437" "00198"
"00389363" "04214"
"00389364" "04214"
"00390343" "04214"
"00426926" "04214"
"00447207" "00198"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 02048, 04214
## Count = 14
"{{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}}"
"0000082880" "02048" "00104991" "01244" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000128023" "02048" "00155523" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Refsume syndrome" ""
"0000234619" "04214" "00309299" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Refsume syndrome" ""
"0000246460" "04214" "00328233" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000251539" "04214" "00333352" "00000" "Familial, autosomal recessive" "64y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000254262" "04214" "00358964" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000254267" "04214" "00358969" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber Congenital Amaurosis" ""
"0000269057" "04214" "00373848" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000269647" "00198" "00374437" "00006" "Familial, autosomal recessive" "" "Frequent falls, abnormal gait, muscle weakness, attention deficit, round face, short neck and ichthyosis" "" "" "" "" "" "" "" "" "" "muscle weakness" ""
"0000282904" "04214" "00389363" "00000" "Familial, autosomal recessive" "40y" "age at genetic diagnosis mentioned" "" "38y" "" "" "" "" "" "" "unclassified / mixed" "" ""
"0000282905" "04214" "00389364" "00000" "Familial, autosomal recessive" "42y" "age at genetic diagnosis mentioned" "" "40y" "" "" "" "" "" "" "unclassified / mixed" "" ""
"0000283881" "04214" "00390343" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "retinal disease" "retinal disease" ""
"0000318064" "04214" "00426926" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "Leber congenital amaurosis" ""
"0000336406" "00198" "00447207" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "eye diseaes" ""
## Screenings ## Do not remove or alter this header ##
## Count = 15
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000105463" "00104991" "1" "01244" "01244" "2017-06-14 15:06:00" "" "" "SEQ-NG-I" "DNA" "Whole blood" ""
"0000156388" "00155523" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000291170" "00290002" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000310444" "00309299" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000329448" "00328233" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000334577" "00333352" "1" "00000" "00006" "2021-02-25 10:13:46" "" "" "SEQ-NG" "DNA" "" "132-gene panel"
"0000360201" "00358964" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES"
"0000360206" "00358969" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES"
"0000375080" "00373848" "1" "00000" "00006" "2021-05-21 13:56:05" "" "" "SEQ-NG" "DNA" "" "86-gene panel"
"0000375631" "00374437" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel"
"0000390606" "00389363" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing"
"0000390607" "00389364" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper"
"0000391584" "00390343" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000428246" "00426926" "1" "00000" "03840" "2022-12-03 18:53:15" "" "" "SEQ-NG;SEQ" "DNA" "saliva" "panel-based next generation sequencing"
"0000448784" "00447207" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 10
"{{screeningid}}" "{{geneid}}"
"0000156388" "PHYH"
"0000310444" "PHYH"
"0000329448" "PHYH"
"0000334577" "CRB1"
"0000375080" "PHYH"
"0000375631" "PHYH"
"0000390606" "PHYH"
"0000390607" "PHYH"
"0000391584" "PHYH"
"0000428246" "AIPL1"
## 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 = 88
"{{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}}"
"0000170877" "11" "90" "10" "13325840" "13325840" "dup" "0" "01244" "PHYH_000001" "g.13325840dup" "" "{PMID:de Castro-Miró 2016:28005958}" "" "" "" "Germline" "" "" "0" "" "" "g.13283840dup" "" "pathogenic" "ACMG"
"0000170878" "21" "70" "10" "13330370" "13330370" "subst" "4.06749E-6" "01244" "PHYH_000002" "g.13330370G>C" "" "{PMID:de Castro-Miró 2016:28005958}" "" "" "" "Germline" "" "" "0" "" "" "g.13288370G>C" "" "likely pathogenic" "ACMG"
"0000246908" "0" "10" "10" "13322991" "13322991" "subst" "0.000304561" "02330" "PHYH_000005" "g.13322991A>G" "" "" "" "PHYH(NM_001037537.2):c.648T>C (p.N216=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13280991A>G" "" "benign" ""
"0000293720" "0" "10" "10" "13333932" "13333932" "dup" "0" "02330" "PHYH_000016" "g.13333932dup" "" "" "" "PHYH(NM_001037537.2):c.115-11dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13291932dup" "" "benign" ""
"0000293721" "0" "10" "10" "13340195" "13340195" "subst" "0.00371186" "02330" "PHYH_000022" "g.13340195T>C" "" "" "" "PHYH(NM_006214.3):c.126A>G (p.Q42=), PHYH(NM_006214.4):c.126A>G (p.Q42=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13298195T>C" "" "benign" ""
"0000293722" "0" "10" "10" "13337588" "13337588" "subst" "0.992631" "02330" "PHYH_000020" "g.13337588G>A" "" "" "" "PHYH(NM_006214.4):c.153C>T (p.N51=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13295588G>A" "" "benign" ""
"0000293723" "0" "50" "10" "13336552" "13336552" "subst" "0.000182732" "02330" "PHYH_000019" "g.13336552C>T" "" "" "" "PHYH(NM_006214.4):c.290G>A (p.G97E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13294552C>T" "" "VUS" ""
"0000293724" "0" "50" "10" "13330437" "13330437" "subst" "0.00127131" "02330" "PHYH_000015" "g.13330437G>C" "" "" "" "PHYH(NM_001037537.1):c.301C>G (p.R101G), PHYH(NM_001037537.2):c.301C>G (p.R101G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13288437G>C" "" "VUS" ""
"0000293725" "0" "10" "10" "13330402" "13330402" "subst" "0.233267" "02330" "PHYH_000014" "g.13330402T>C" "" "" "" "PHYH(NM_001037537.2):c.336A>G (p.T112=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13288402T>C" "" "benign" ""
"0000293726" "0" "10" "10" "13330395" "13330395" "subst" "0.00147481" "02330" "PHYH_000013" "g.13330395C>T" "" "" "" "PHYH(NM_001037537.2):c.343G>A (p.G115S), PHYH(NM_001323080.1):c.343G>A (p.G115S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13288395C>T" "" "benign" ""
"0000293727" "0" "10" "10" "13330345" "13330345" "subst" "0.00630134" "02330" "PHYH_000011" "g.13330345G>A" "" "" "" "PHYH(NM_001037537.1):c.378+15C>T, PHYH(NM_001037537.2):c.378+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13288345G>A" "" "benign" ""
"0000293728" "0" "30" "10" "13325853" "13325853" "subst" "1.62447E-5" "02330" "PHYH_000010" "g.13325853C>T" "" "" "" "PHYH(NM_001037537.2):c.379-14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13283853C>T" "" "likely benign" ""
"0000293729" "0" "50" "10" "13325835" "13325835" "subst" "1.62444E-5" "02330" "PHYH_000009" "g.13325835C>T" "" "" "" "PHYH(NM_001037537.2):c.383G>A (p.G128E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13283835C>T" "" "VUS" ""
"0000293730" "0" "10" "10" "13325801" "13325801" "subst" "0.000588785" "02330" "PHYH_000008" "g.13325801G>A" "" "" "" "PHYH(NM_001037537.1):c.417C>T (p.Y139=), PHYH(NM_001037537.2):c.417C>T (p.Y139=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13283801G>A" "" "benign" ""
"0000293731" "0" "30" "10" "13325784" "13325784" "subst" "0.00772735" "02330" "PHYH_000007" "g.13325784C>T" "" "" "" "PHYH(NM_001037537.2):c.434G>A (p.R145Q), PHYH(NM_001323080.2):c.434G>A (p.R145Q), PHYH(NM_006214.4):c.734G>A (p.R245Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13283784C>T" "" "likely benign" ""
"0000293732" "0" "50" "10" "13336486" "13336486" "subst" "0.00128313" "02330" "PHYH_000018" "g.13336486G>A" "" "" "" "PHYH(NM_001037537.2):c.56C>T (p.T19M), PHYH(NM_001323080.1):c.56C>T (p.T19M), PHYH(NM_006214.4):c.356C>T (p.T119M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13294486G>A" "" "VUS" ""
"0000293733" "0" "30" "10" "13336485" "13336485" "subst" "0.00014618" "02330" "PHYH_000017" "g.13336485C>T" "" "" "" "PHYH(NM_001037537.2):c.57G>A (p.T19=), PHYH(NM_001323080.2):c.57G>A (p.T19=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13294485C>T" "" "likely benign" ""
"0000296948" "0" "10" "10" "13337588" "13337588" "subst" "0.992631" "02325" "PHYH_000020" "g.13337588G>A" "" "" "" "PHYH(NM_006214.4):c.153C>T (p.N51=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13295588G>A" "" "benign" ""
"0000296949" "0" "10" "10" "13330402" "13330402" "subst" "0.233267" "02325" "PHYH_000014" "g.13330402T>C" "" "" "" "PHYH(NM_001037537.2):c.336A>G (p.T112=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13288402T>C" "" "benign" ""
"0000300751" "0" "30" "10" "13330345" "13330345" "subst" "0.00630134" "02326" "PHYH_000011" "g.13330345G>A" "" "" "" "PHYH(NM_001037537.1):c.378+15C>T, PHYH(NM_001037537.2):c.378+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13288345G>A" "" "likely benign" ""
"0000300752" "0" "30" "10" "13330353" "13330353" "subst" "0" "02326" "PHYH_000012" "g.13330353G>A" "" "" "" "PHYH(NM_001037537.1):c.378+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13288353G>A" "" "likely benign" ""
"0000305559" "0" "30" "10" "13340195" "13340195" "subst" "0.00371186" "01943" "PHYH_000022" "g.13340195T>C" "" "" "" "PHYH(NM_006214.3):c.126A>G (p.Q42=), PHYH(NM_006214.4):c.126A>G (p.Q42=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13298195T>C" "" "likely benign" ""
"0000305560" "0" "50" "10" "13330437" "13330437" "subst" "0.00127131" "01943" "PHYH_000015" "g.13330437G>C" "" "" "" "PHYH(NM_001037537.1):c.301C>G (p.R101G), PHYH(NM_001037537.2):c.301C>G (p.R101G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13288437G>C" "" "VUS" ""
"0000305561" "0" "30" "10" "13325801" "13325801" "subst" "0.000588785" "01943" "PHYH_000008" "g.13325801G>A" "" "" "" "PHYH(NM_001037537.1):c.417C>T (p.Y139=), PHYH(NM_001037537.2):c.417C>T (p.Y139=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13283801G>A" "" "likely benign" ""
"0000305562" "0" "30" "10" "13325726" "13325726" "subst" "0.000138059" "01943" "PHYH_000006" "g.13325726G>A" "" "" "" "PHYH(NM_001037537.1):c.492C>T (p.H164=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13283726G>A" "" "likely benign" ""
"0000305563" "0" "50" "10" "13336486" "13336486" "subst" "0.00128313" "01943" "PHYH_000018" "g.13336486G>A" "" "" "" "PHYH(NM_001037537.2):c.56C>T (p.T19M), PHYH(NM_001323080.1):c.56C>T (p.T19M), PHYH(NM_006214.4):c.356C>T (p.T119M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13294486G>A" "" "VUS" ""
"0000342510" "0" "90" "10" "13325695" "13325695" "subst" "0.000190857" "02327" "PHYH_000004" "g.13325695G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13283695G>A" "" "pathogenic" ""
"0000358310" "3" "90" "10" "13337607" "13337607" "subst" "0" "01243" "PHYH_000021" "g.13337607C>G" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.13295607C>G" "" "pathogenic" ""
"0000539525" "0" "30" "10" "13320306" "13320308" "dup" "0" "02330" "PHYH_000023" "g.13320306_13320308dup" "" "" "" "PHYH(NM_001037537.1):c.710_712dupATC (p.N237_L238insH), PHYH(NM_001037537.2):c.710_712dupATC (p.N237_L238insH), PHYH(NM_006214.4):c.1010_1012dupATC..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13278306_13278308dup" "" "likely benign" ""
"0000539526" "0" "30" "10" "13320306" "13320308" "dup" "0" "01943" "PHYH_000023" "g.13320306_13320308dup" "" "" "" "PHYH(NM_001037537.1):c.710_712dupATC (p.N237_L238insH), PHYH(NM_001037537.2):c.710_712dupATC (p.N237_L238insH), PHYH(NM_006214.4):c.1010_1012dupATC..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13278306_13278308dup" "" "likely benign" ""
"0000539527" "0" "70" "10" "13322988" "13322988" "dup" "0" "02330" "PHYH_000024" "g.13322988dup" "" "" "" "PHYH(NM_001037537.2):c.651dupC (p.V218Rfs*24)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13280988dup" "" "likely pathogenic" ""
"0000539528" "0" "50" "10" "13323113" "13323113" "subst" "0.000832514" "02330" "PHYH_000025" "g.13323113G>T" "" "" "" "PHYH(NM_001037537.2):c.529-3C>A, PHYH(NM_001323080.2):c.529-3C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13281113G>T" "" "VUS" ""
"0000539530" "0" "50" "10" "13330355" "13330355" "subst" "0.0012443" "01943" "PHYH_000026" "g.13330355C>A" "" "" "" "PHYH(NM_001037537.1):c.378+5G>T, PHYH(NM_001037537.2):c.378+5G>T, PHYH(NM_001323080.1):c.378+5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13288355C>A" "" "VUS" ""
"0000539531" "0" "10" "10" "13330395" "13330395" "subst" "0.00147481" "01943" "PHYH_000013" "g.13330395C>T" "" "" "" "PHYH(NM_001037537.2):c.343G>A (p.G115S), PHYH(NM_001323080.1):c.343G>A (p.G115S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13288395C>T" "" "benign" ""
"0000539532" "0" "50" "10" "13330464" "13330464" "subst" "4.06111E-6" "02330" "PHYH_000027" "g.13330464C>A" "" "" "" "PHYH(NM_001037537.2):c.274G>T (p.A92S), PHYH(NM_001323080.1):c.274G>T (p.A92S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13288464C>A" "" "VUS" ""
"0000539533" "0" "50" "10" "13330470" "13330470" "subst" "0.000154316" "02330" "PHYH_000028" "g.13330470C>T" "" "" "" "PHYH(NM_001037537.2):c.268G>A (p.V90I), PHYH(NM_001323080.1):c.268G>A (p.V90I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13288470C>T" "" "VUS" ""
"0000539534" "0" "50" "10" "13330470" "13330470" "subst" "0.000154316" "01943" "PHYH_000028" "g.13330470C>T" "" "" "" "PHYH(NM_001037537.2):c.268G>A (p.V90I), PHYH(NM_001323080.1):c.268G>A (p.V90I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13288470C>T" "" "VUS" ""
"0000539535" "0" "50" "10" "13330471" "13330471" "subst" "1.21829E-5" "01943" "PHYH_000029" "g.13330471G>C" "" "" "" "PHYH(NM_001323080.1):c.267C>G (p.I89M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13288471G>C" "" "VUS" ""
"0000539536" "0" "10" "10" "13333932" "13333932" "del" "0" "02330" "PHYH_000030" "g.13333932del" "" "" "" "PHYH(NM_001037537.2):c.115-11delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13291932del" "" "benign" ""
"0000539537" "0" "10" "10" "13336521" "13336521" "subst" "0.00100703" "02330" "PHYH_000031" "g.13336521C>T" "" "" "" "PHYH(NM_001037537.1):c.21G>A (p.S7=), PHYH(NM_001037537.2):c.21G>A (p.S7=), PHYH(NM_006214.4):c.321G>A (p.S107=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13294521C>T" "" "benign" ""
"0000539538" "0" "30" "10" "13336521" "13336521" "subst" "0.00100703" "01943" "PHYH_000031" "g.13336521C>T" "" "" "" "PHYH(NM_001037537.1):c.21G>A (p.S7=), PHYH(NM_001037537.2):c.21G>A (p.S7=), PHYH(NM_006214.4):c.321G>A (p.S107=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13294521C>T" "" "likely benign" ""
"0000539539" "0" "10" "10" "13340236" "13340236" "subst" "0.148352" "02330" "PHYH_000032" "g.13340236G>A" "" "" "" "PHYH(NM_006214.4):c.85C>T (p.P29S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13298236G>A" "" "benign" ""
"0000539540" "0" "10" "10" "13340236" "13340236" "subst" "0.148352" "02325" "PHYH_000032" "g.13340236G>A" "" "" "" "PHYH(NM_006214.4):c.85C>T (p.P29S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13298236G>A" "" "benign" ""
"0000539541" "0" "30" "10" "13340238" "13340238" "subst" "2.03089E-5" "01943" "PHYH_000033" "g.13340238T>C" "" "" "" "PHYH(NM_006214.3):c.83A>G (p.H28R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13298238T>C" "" "likely benign" ""
"0000612368" "0" "50" "10" "13320306" "13320308" "dup" "0" "02327" "PHYH_000023" "g.13320306_13320308dup" "" "" "" "PHYH(NM_001037537.1):c.710_712dupATC (p.N237_L238insH), PHYH(NM_001037537.2):c.710_712dupATC (p.N237_L238insH), PHYH(NM_006214.4):c.1010_1012dupATC..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13278306_13278308dup" "" "VUS" ""
"0000612369" "0" "50" "10" "13325839" "13325839" "subst" "5.68533E-5" "01943" "PHYH_000034" "g.13325839C>A" "" "" "" "PHYH(NM_001323080.1):c.379G>T (p.G127W), PHYH(NM_001323080.2):c.379G>T (p.G127W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13283839C>A" "" "VUS" ""
"0000612370" "0" "30" "10" "13330345" "13330345" "subst" "0.00630134" "02327" "PHYH_000011" "g.13330345G>A" "" "" "" "PHYH(NM_001037537.1):c.378+15C>T, PHYH(NM_001037537.2):c.378+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13288345G>A" "" "likely benign" ""
"0000612371" "0" "10" "10" "13330402" "13330402" "subst" "0.233267" "02327" "PHYH_000014" "g.13330402T>C" "" "" "" "PHYH(NM_001037537.2):c.336A>G (p.T112=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13288402T>C" "" "benign" ""
"0000612372" "0" "50" "10" "13330532" "13330532" "subst" "0" "01943" "PHYH_000035" "g.13330532G>A" "" "" "" "PHYH(NM_001323080.1):c.206C>T (p.T69M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13288532G>A" "" "VUS" ""
"0000612373" "0" "30" "10" "13337587" "13337587" "subst" "4.06504E-6" "02327" "PHYH_000036" "g.13337587C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13295587C>T" "" "likely benign" ""
"0000612374" "0" "30" "10" "13342034" "13342034" "subst" "0" "02327" "PHYH_000038" "g.13342034C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13300034C>T" "" "likely benign" ""
"0000622357" "0" "30" "10" "13342007" "13342007" "subst" "0" "02330" "PHYH_000037" "g.13342007A>G" "" "" "" "PHYH(NM_001323082.2):c.36T>C (p.I12=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13300007A>G" "" "likely benign" ""
"0000647859" "1" "70" "10" "13325695" "13325695" "subst" "0.000190857" "03575" "PHYH_000004" "g.13325695G>A" "2/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs104894178}" "Germline" "" "rs104894178" "0" "" "" "g.13283695G>A" "" "likely pathogenic" ""
"0000678804" "0" "50" "10" "13333825" "13333825" "subst" "2.85288E-5" "02330" "PHYH_000039" "g.13333825A>T" "" "" "" "PHYH(NM_001323084.2):c.202T>A (p.C68S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000678805" "0" "50" "10" "13336486" "13336486" "subst" "0.00128313" "02325" "PHYH_000018" "g.13336486G>A" "" "" "" "PHYH(NM_001037537.2):c.56C>T (p.T19M), PHYH(NM_001323080.1):c.56C>T (p.T19M), PHYH(NM_006214.4):c.356C>T (p.T119M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000685355" "0" "90" "10" "13337607" "13337607" "subst" "0" "00004" "PHYH_000021" "g.13337607C>G" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000690681" "0" "30" "10" "13325784" "13325784" "subst" "0.00772735" "02325" "PHYH_000007" "g.13325784C>T" "" "" "" "PHYH(NM_001037537.2):c.434G>A (p.R145Q), PHYH(NM_001323080.2):c.434G>A (p.R145Q), PHYH(NM_006214.4):c.734G>A (p.R245Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000690682" "0" "50" "10" "13330464" "13330464" "subst" "4.06111E-6" "01943" "PHYH_000027" "g.13330464C>A" "" "" "" "PHYH(NM_001037537.2):c.274G>T (p.A92S), PHYH(NM_001323080.1):c.274G>T (p.A92S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000713571" "0" "90" "10" "13325695" "13325695" "subst" "0.000190857" "00000" "PHYH_000004" "g.13325695G>A" "" "{PMID:Carss 2017:28041643}" "" "10:13325695G>A ENST00000263038.4:c.823C>T (Arg275Trp)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000713852" "0" "90" "10" "13330355" "13330355" "subst" "0.0012443" "00000" "PHYH_000026" "g.13330355C>A" "" "{PMID:Carss 2017:28041643}" "" "10:13330355C>A ENST00000263038.4:c.678+5G>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000722743" "0" "30" "10" "13320306" "13320308" "dup" "0" "02325" "PHYH_000023" "g.13320306_13320308dup" "" "" "" "PHYH(NM_001037537.1):c.710_712dupATC (p.N237_L238insH), PHYH(NM_001037537.2):c.710_712dupATC (p.N237_L238insH), PHYH(NM_006214.4):c.1010_1012dupATC..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000722744" "0" "30" "10" "13322989" "13322989" "subst" "1.21822E-5" "01943" "PHYH_000040" "g.13322989C>T" "" "" "" "PHYH(NM_001323080.1):c.650G>A (p.S217N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000722745" "0" "50" "10" "13325839" "13325839" "subst" "5.68533E-5" "02330" "PHYH_000034" "g.13325839C>A" "" "" "" "PHYH(NM_001323080.1):c.379G>T (p.G127W), PHYH(NM_001323080.2):c.379G>T (p.G127W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000722746" "0" "90" "10" "13330355" "13330355" "subst" "0.0012443" "02329" "PHYH_000026" "g.13330355C>A" "" "" "" "PHYH(NM_001037537.1):c.378+5G>T, PHYH(NM_001037537.2):c.378+5G>T, PHYH(NM_001323080.1):c.378+5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000732450" "3" "50" "10" "13325784" "13325784" "subst" "0.00772735" "00000" "PHYH_000007" "g.13325784C>T" "" "{PMID:Costa 2017:28912962}" "" "" "" "Germline" "" "" "0" "" "" "g.13283784C>T" "" "VUS" ""
"0000760029" "0" "50" "10" "13325784" "13325784" "subst" "0.00772735" "00000" "PHYH_000007" "g.13325784C>T" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.13283784C>T" "" "VUS" ""
"0000760050" "0" "50" "10" "13325784" "13325784" "subst" "0.00772735" "00000" "PHYH_000007" "g.13325784C>T" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.13283784C>T" "" "VUS" ""
"0000786347" "3" "90" "10" "13325815" "13325815" "subst" "8.12163E-6" "00000" "PHYH_000041" "g.13325815C>T" "" "{PMID:Zhao 2015:25472526}" "" "" "" "Germline" "" "" "0" "" "" "g.13283815C>T" "" "pathogenic" ""
"0000786982" "0" "70" "10" "13325841" "13325841" "subst" "0" "00006" "PHYH_000042" "g.13325841T>G" "" "{PMID:Ganapathy 2019:31069529}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.13283841T>G" "" "likely pathogenic" ""
"0000804347" "0" "30" "10" "13320372" "13320372" "subst" "4.07332E-6" "02330" "PHYH_000043" "g.13320372C>G" "" "" "" "PHYH(NM_001323080.2):c.664-18G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000804348" "0" "50" "10" "13323083" "13323083" "subst" "0.000113701" "01943" "PHYH_000044" "g.13323083C>T" "" "" "" "PHYH(NM_001323080.1):c.556G>A (p.D186N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000804349" "0" "50" "10" "13325758" "13325758" "subst" "8.1213E-5" "01943" "PHYH_000045" "g.13325758C>T" "" "" "" "PHYH(NM_001323080.1):c.460G>A (p.D154N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000819951" "1" "70" "10" "13323109" "13323109" "subst" "8.12203E-6" "00000" "PHYH_000046" "g.13323109G>T" "" "{PMID:Weisschuh 2020:32531858}" "" "PHYH, variant 1: c.830C>A/p.A277E, variant 2: c.530A>G/p.D177G" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.13281109G>T" "" "likely pathogenic" ""
"0000819952" "1" "70" "10" "13323109" "13323109" "subst" "8.12203E-6" "00000" "PHYH_000046" "g.13323109G>T" "" "{PMID:Weisschuh 2020:32531858}" "" "PHYH, variant 1: c.830C>A/p.A277E, variant 2: c.530A>G/p.D177G" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.13281109G>T" "" "likely pathogenic" ""
"0000820769" "1" "70" "10" "13330508" "13330508" "subst" "1.62438E-5" "00000" "PHYH_000047" "g.13330508T>C" "" "{PMID:Weisschuh 2020:32531858}" "" "PHYH, variant 1: c.830C>A/p.A277E, variant 2: c.530A>G/p.D177G" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.13288508T>C" "" "likely pathogenic" ""
"0000820770" "1" "70" "10" "13330508" "13330508" "subst" "1.62438E-5" "00000" "PHYH_000047" "g.13330508T>C" "" "{PMID:Weisschuh 2020:32531858}" "" "PHYH, variant 1: c.830C>A/p.A277E, variant 2: c.530A>G/p.D177G" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.13288508T>C" "" "likely pathogenic" ""
"0000821333" "0" "70" "10" "13330355" "13330355" "subst" "0.0012443" "00000" "PHYH_000026" "g.13330355C>A" "" "{PMID:Turro 2020:32581362}" "" "PHYH c.678+5G>T," "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.13288355C>A" "" "likely pathogenic" ""
"0000821592" "0" "70" "10" "13325695" "13325695" "subst" "0.000190857" "00000" "PHYH_000004" "g.13325695G>A" "" "{PMID:Turro 2020:32581362}" "" "PHYH c.823C>T, p.Arg275Trp" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.13283695G>A" "" "likely pathogenic" ""
"0000852442" "0" "30" "10" "13336482" "13336482" "subst" "3.24844E-5" "02330" "PHYH_000049" "g.13336482C>T" "" "" "" "PHYH(NM_001323080.2):c.60G>A (p.K20=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000852443" "0" "90" "10" "13337608" "13337608" "subst" "0.000109968" "01943" "PHYH_000050" "g.13337608T>C" "" "" "" "PHYH(NM_001323080.1):c.-166-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000861860" "0" "50" "10" "13336432" "13336432" "subst" "0" "01943" "PHYH_000048" "g.13336432G>A" "" "" "" "PHYH(NM_001323080.1):c.110C>T (p.P37L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000889071" "0" "30" "10" "13325784" "13325784" "subst" "0.00772735" "02326" "PHYH_000007" "g.13325784C>T" "" "" "" "PHYH(NM_001037537.2):c.434G>A (p.R145Q), PHYH(NM_001323080.2):c.434G>A (p.R145Q), PHYH(NM_006214.4):c.734G>A (p.R245Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000889072" "0" "30" "10" "13336521" "13336521" "subst" "0.00100703" "02326" "PHYH_000031" "g.13336521C>T" "" "" "" "PHYH(NM_001037537.1):c.21G>A (p.S7=), PHYH(NM_001037537.2):c.21G>A (p.S7=), PHYH(NM_006214.4):c.321G>A (p.S107=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000889073" "0" "30" "10" "13340253" "13340253" "subst" "1.62645E-5" "02330" "PHYH_000051" "g.13340253G>A" "" "" "" "PHYH(NM_001323080.2):c.-225-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000905924" "0" "50" "10" "13330457" "13330457" "subst" "0.000198998" "00000" "PHYH_000052" "g.13330457G>A" "" "{PMID:Zhu 2022:35456422}" "" "PHYH c.581C>T, p.(Thr194Met)" "heterozygous, probably non-causal incidental finding" "Germline/De novo (untested)" "?" "" "0" "" "" "g.13288457G>A" "" "VUS" "ACMG"
"0000949368" "0" "30" "10" "13336486" "13336486" "subst" "0.00128313" "02326" "PHYH_000018" "g.13336486G>A" "" "" "" "PHYH(NM_001037537.2):c.56C>T (p.T19M), PHYH(NM_001323080.1):c.56C>T (p.T19M), PHYH(NM_006214.4):c.356C>T (p.T119M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000958270" "3" "90" "10" "13330509" "13330509" "subst" "0" "00006" "PHYH_000053" "g.13330509C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PM1, PP5_STRONG" "Germline" "" "" "0" "" "" "g.13288509C>T" "" "pathogenic (recessive)" "ACMG"
"0000998209" "0" "30" "10" "13323026" "13323026" "subst" "0" "01804" "PHYH_000054" "g.13323026C>T" "" "" "" "PHYH(NM_006214.3):c.913G>A (p.(Val305Ile))" "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 PHYH
## Count = 88
"{{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}}"
"0000170877" "00024267" "90" "683" "0" "683" "0" "c.683dup" "r.(?)" "p.(Val229Serfs*2)" "7"
"0000170878" "00024267" "70" "668" "0" "668" "0" "c.668C>G" "r.(?)" "p.(Pro223Arg)" "6"
"0000246908" "00024267" "10" "948" "0" "948" "0" "c.948T>C" "r.(?)" "p.(Asn316=)" ""
"0000293720" "00024267" "10" "415" "-11" "415" "-11" "c.415-11dup" "r.(=)" "p.(=)" ""
"0000293721" "00024267" "10" "126" "0" "126" "0" "c.126A>G" "r.(?)" "p.(Gln42=)" ""
"0000293722" "00024267" "10" "153" "0" "153" "0" "c.153C>T" "r.(?)" "p.(Asn51=)" ""
"0000293723" "00024267" "50" "290" "0" "290" "0" "c.290G>A" "r.(?)" "p.(Gly97Glu)" ""
"0000293724" "00024267" "50" "601" "0" "601" "0" "c.601C>G" "r.(?)" "p.(Arg201Gly)" ""
"0000293725" "00024267" "10" "636" "0" "636" "0" "c.636A>G" "r.(?)" "p.(Thr212=)" ""
"0000293726" "00024267" "10" "643" "0" "643" "0" "c.643G>A" "r.(?)" "p.(Gly215Ser)" ""
"0000293727" "00024267" "10" "678" "15" "678" "15" "c.678+15C>T" "r.(=)" "p.(=)" ""
"0000293728" "00024267" "30" "679" "-14" "679" "-14" "c.679-14G>A" "r.(=)" "p.(=)" ""
"0000293729" "00024267" "50" "683" "0" "683" "0" "c.683G>A" "r.(?)" "p.(Gly228Glu)" ""
"0000293730" "00024267" "10" "717" "0" "717" "0" "c.717C>T" "r.(?)" "p.(Tyr239=)" ""
"0000293731" "00024267" "30" "734" "0" "734" "0" "c.734G>A" "r.(?)" "p.(Arg245Gln)" ""
"0000293732" "00024267" "50" "356" "0" "356" "0" "c.356C>T" "r.(?)" "p.(Thr119Met)" ""
"0000293733" "00024267" "30" "357" "0" "357" "0" "c.357G>A" "r.(?)" "p.(Thr119=)" ""
"0000296948" "00024267" "10" "153" "0" "153" "0" "c.153C>T" "r.(?)" "p.(Asn51=)" ""
"0000296949" "00024267" "10" "636" "0" "636" "0" "c.636A>G" "r.(?)" "p.(Thr212=)" ""
"0000300751" "00024267" "30" "678" "15" "678" "15" "c.678+15C>T" "r.(=)" "p.(=)" ""
"0000300752" "00024267" "30" "678" "7" "678" "7" "c.678+7C>T" "r.(=)" "p.(=)" ""
"0000305559" "00024267" "30" "126" "0" "126" "0" "c.126A>G" "r.(?)" "p.(Gln42=)" ""
"0000305560" "00024267" "50" "601" "0" "601" "0" "c.601C>G" "r.(?)" "p.(Arg201Gly)" ""
"0000305561" "00024267" "30" "717" "0" "717" "0" "c.717C>T" "r.(?)" "p.(Tyr239=)" ""
"0000305562" "00024267" "30" "792" "0" "792" "0" "c.792C>T" "r.(?)" "p.(His264=)" ""
"0000305563" "00024267" "50" "356" "0" "356" "0" "c.356C>T" "r.(?)" "p.(Thr119Met)" ""
"0000342510" "00024267" "90" "823" "0" "823" "0" "c.823C>T" "r.(?)" "p.(Arg275Trp)" ""
"0000358310" "00024267" "90" "135" "-1" "135" "-1" "c.135-1G>C" "r.spl" "p.?" "3i"
"0000539525" "00024267" "30" "1010" "0" "1012" "0" "c.1010_1012dup" "r.(?)" "p.(Asn337_Leu338insHis)" ""
"0000539526" "00024267" "30" "1010" "0" "1012" "0" "c.1010_1012dup" "r.(?)" "p.(Asn337_Leu338insHis)" ""
"0000539527" "00024267" "70" "951" "0" "951" "0" "c.951dup" "r.(?)" "p.(Val318ArgfsTer24)" ""
"0000539528" "00024267" "50" "829" "-3" "829" "-3" "c.829-3C>A" "r.spl?" "p.?" ""
"0000539530" "00024267" "50" "678" "5" "678" "5" "c.678+5G>T" "r.spl?" "p.?" ""
"0000539531" "00024267" "10" "643" "0" "643" "0" "c.643G>A" "r.(?)" "p.(Gly215Ser)" ""
"0000539532" "00024267" "50" "574" "0" "574" "0" "c.574G>T" "r.(?)" "p.(Ala192Ser)" ""
"0000539533" "00024267" "50" "568" "0" "568" "0" "c.568G>A" "r.(?)" "p.(Val190Ile)" ""
"0000539534" "00024267" "50" "568" "0" "568" "0" "c.568G>A" "r.(?)" "p.(Val190Ile)" ""
"0000539535" "00024267" "50" "567" "0" "567" "0" "c.567C>G" "r.(?)" "p.(Ile189Met)" ""
"0000539536" "00024267" "10" "415" "-11" "415" "-11" "c.415-11del" "r.(=)" "p.(=)" ""
"0000539537" "00024267" "10" "321" "0" "321" "0" "c.321G>A" "r.(?)" "p.(Ser107=)" ""
"0000539538" "00024267" "30" "321" "0" "321" "0" "c.321G>A" "r.(?)" "p.(Ser107=)" ""
"0000539539" "00024267" "10" "85" "0" "85" "0" "c.85C>T" "r.(?)" "p.(Pro29Ser)" ""
"0000539540" "00024267" "10" "85" "0" "85" "0" "c.85C>T" "r.(?)" "p.(Pro29Ser)" ""
"0000539541" "00024267" "30" "83" "0" "83" "0" "c.83A>G" "r.(?)" "p.(His28Arg)" ""
"0000612368" "00024267" "50" "1010" "0" "1012" "0" "c.1010_1012dup" "r.(?)" "p.(Asn337_Leu338insHis)" ""
"0000612369" "00024267" "50" "679" "0" "679" "0" "c.679G>T" "r.(?)" "p.(Gly227Trp)" ""
"0000612370" "00024267" "30" "678" "15" "678" "15" "c.678+15C>T" "r.(=)" "p.(=)" ""
"0000612371" "00024267" "10" "636" "0" "636" "0" "c.636A>G" "r.(?)" "p.(Thr212=)" ""
"0000612372" "00024267" "50" "506" "0" "506" "0" "c.506C>T" "r.(?)" "p.(Thr169Met)" ""
"0000612373" "00024267" "30" "154" "0" "154" "0" "c.154G>A" "r.(?)" "p.(Val52Ile)" ""
"0000612374" "00024267" "30" "9" "0" "9" "0" "c.9G>A" "r.(?)" "p.(Gln3=)" ""
"0000622357" "00024267" "30" "36" "0" "36" "0" "c.36T>C" "r.(?)" "p.(Ile12=)" ""
"0000647859" "00024267" "70" "823" "0" "823" "0" "c.823C>T" "r.(?)" "p.(Arg275Trp)" ""
"0000678804" "00024267" "50" "496" "6" "496" "6" "c.496+6T>A" "r.(=)" "p.(=)" ""
"0000678805" "00024267" "50" "356" "0" "356" "0" "c.356C>T" "r.(?)" "p.(Thr119Met)" ""
"0000685355" "00024267" "90" "135" "-1" "135" "-1" "c.135-1G>C" "r.spl" "p.?" ""
"0000690681" "00024267" "30" "734" "0" "734" "0" "c.734G>A" "r.(?)" "p.(Arg245Gln)" ""
"0000690682" "00024267" "50" "574" "0" "574" "0" "c.574G>T" "r.(?)" "p.(Ala192Ser)" ""
"0000713571" "00024267" "90" "823" "0" "823" "0" "c.823C>T" "r.(?)" "p.(Arg275Trp)" ""
"0000713852" "00024267" "90" "678" "5" "678" "5" "c.678+5G>T" "r.spl?" "p.?" ""
"0000722743" "00024267" "30" "1010" "0" "1012" "0" "c.1010_1012dup" "r.(?)" "p.(Asn337_Leu338insHis)" ""
"0000722744" "00024267" "30" "950" "0" "950" "0" "c.950G>A" "r.(?)" "p.(Ser317Asn)" ""
"0000722745" "00024267" "50" "679" "0" "679" "0" "c.679G>T" "r.(?)" "p.(Gly227Trp)" ""
"0000722746" "00024267" "90" "678" "5" "678" "5" "c.678+5G>T" "r.spl?" "p.?" ""
"0000732450" "00024267" "50" "734" "0" "734" "0" "c.734G>A" "r.(?)" "p.(Arg245Gln)" ""
"0000760029" "00024267" "50" "734" "0" "734" "0" "c.734G>A" "r.(?)" "p.(Arg245Gln)" ""
"0000760050" "00024267" "50" "734" "0" "734" "0" "c.734G>A" "r.(?)" "p.(Arg245Gln)" ""
"0000786347" "00024267" "90" "403" "0" "403" "0" "c.403G>A" "r.(?)" "p.(Gly235Arg)" ""
"0000786982" "00024267" "70" "679" "-2" "679" "-2" "c.679-2A>C" "r.spl" "p.?" "6i"
"0000804347" "00024267" "30" "964" "-18" "964" "-18" "c.964-18G>C" "r.(=)" "p.(=)" ""
"0000804348" "00024267" "50" "856" "0" "856" "0" "c.856G>A" "r.(?)" "p.(Asp286Asn)" ""
"0000804349" "00024267" "50" "760" "0" "760" "0" "c.760G>A" "r.(?)" "p.(Asp254Asn)" ""
"0000819951" "00024267" "70" "830" "0" "830" "0" "c.830C>A" "r.(?)" "p.(Ala277Glu)" ""
"0000819952" "00024267" "70" "830" "0" "830" "0" "c.830C>A" "r.(?)" "p.(Ala277Glu)" ""
"0000820769" "00024267" "70" "530" "0" "530" "0" "c.530A>G" "r.(?)" "p.(Asp177Gly)" ""
"0000820770" "00024267" "70" "530" "0" "530" "0" "c.530A>G" "r.(?)" "p.(Asp177Gly)" ""
"0000821333" "00024267" "70" "678" "5" "678" "5" "c.678+5G>T" "r.spl" "p.(?)" ""
"0000821592" "00024267" "70" "823" "0" "823" "0" "c.823C>T" "r.(?)" "p.(Arg275Trp)" ""
"0000852442" "00024267" "30" "360" "0" "360" "0" "c.360G>A" "r.(?)" "p.(Lys120=)" ""
"0000852443" "00024267" "90" "135" "-2" "135" "-2" "c.135-2A>G" "r.spl?" "p.?" ""
"0000861860" "00024267" "50" "410" "0" "410" "0" "c.410C>T" "r.(?)" "p.(Pro137Leu)" ""
"0000889071" "00024267" "30" "734" "0" "734" "0" "c.734G>A" "r.(?)" "p.(Arg245Gln)" ""
"0000889072" "00024267" "30" "321" "0" "321" "0" "c.321G>A" "r.(?)" "p.(Ser107=)" ""
"0000889073" "00024267" "30" "76" "-8" "76" "-8" "c.76-8C>T" "r.(=)" "p.(=)" ""
"0000905924" "00024267" "50" "581" "0" "581" "0" "c.581C>T" "r.(?)" "p.(Thr194Met)" ""
"0000949368" "00024267" "30" "356" "0" "356" "0" "c.356C>T" "r.(?)" "p.(Thr119Met)" ""
"0000958270" "00024267" "90" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Asp177Asn)" ""
"0000998209" "00024267" "30" "913" "0" "913" "0" "c.913G>A" "r.(?)" "p.(Val305Ile)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 20
"{{screeningid}}" "{{variantid}}"
"0000105463" "0000170877"
"0000105463" "0000170878"
"0000156388" "0000358310"
"0000291170" "0000647859"
"0000310444" "0000685355"
"0000329448" "0000713571"
"0000329448" "0000713852"
"0000334577" "0000732450"
"0000360201" "0000760029"
"0000360206" "0000760050"
"0000375080" "0000786347"
"0000375631" "0000786982"
"0000390606" "0000819951"
"0000390606" "0000820769"
"0000390607" "0000819952"
"0000390607" "0000820770"
"0000391584" "0000821333"
"0000391584" "0000821592"
"0000428246" "0000905924"
"0000448784" "0000958270"