### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = POF1B) # 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}}" "POF1B" "premature ovarian failure, 1B" "X" "q21.2" "unknown" "NG_016358.1" "UD_132118299578" "" "https://www.LOVD.nl/POF1B" "" "1" "13711" "79983" "300603" "1" "1" "1" "1" "This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/POF1B_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2018-10-23 21:16:06" "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}}" "00000664" "POF1B" "premature ovarian failure, 1B" "001" "NM_024921.3" "" "NP_079197.3" "" "" "" "-146" "3802" "1770" "84532395" "84634748" "00000" "2012-09-13 12:45:15" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "00668" "KLEFS" "Kleefstra syndrome (KLEFS)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02169" "POF2B" "ovarian failure, premature, type 2B (POF-2B)" "XLR" "300604" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04062" "BBSOAS" "Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS)" "AD" "615722" "" "developmental delay, speech delay 0.96 (44/46), motor delay 0.87 (41/47)), hypotonia 0.84 (39/46), optic nerve atrophy 0.83 (30/36), nystagmus (0.82 (37/45),strabismus 0.77 (34/44)" "" "00006" "2014-09-25 23:29:40" "00006" "2025-02-24 12:35:13" "04282" "CVI" "cerebral visual impairment (CVI)" "" "" "" "" "" "00006" "2015-06-15 15:37:52" "00006" "2015-06-15 15:38:26" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "POF1B" "02169" ## Individuals ## Do not remove or alter this header ## ## Count = 12 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00039400" "" "" "" "1" "" "01158" "{PMID:Bosch 2014:24462372}, {DOI:Bosch 2014:10.1016/j.ajhg.2014.01.002}, {PMID:Bosch 2016:26350515}, {DOI:Bosch 2016:10.1038/ejhg.2015.186}" "" "M" "no" "Netherlands" ">12y" "0" "" "" "" "Pat1;Pat13" "00172906" "" "" "" "23" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172907" "" "" "" "2" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172908" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172909" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00181185" "" "" "" "1" "" "02552" "" "" "M" "no" "Switzerland" "" "0" "" "" "" "71118" "00295104" "" "" "" "60" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305322" "" "" "" "29" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00316025" "" "" "" "1" "" "00006" "{PMID:Zaharieva 2016:26700687}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Fam1PatII1" "00453018" "" "" "" "1" "" "00006" "{PMID:Kleefstra 2012:22726846}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "KS220" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 14 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00039400" "00139" "00039400" "04062" "00039400" "04282" "00172906" "00187" "00172907" "00187" "00172908" "00187" "00172909" "00187" "00181185" "00344" "00295104" "00198" "00305322" "00198" "00316025" "00198" "00453018" "00668" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00187, 00198, 00344, 00668, 01157, 02169, 04062, 04282 ## Count = 10 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000034019" "04062" "00039400" "00091" "Isolated (sporadic)" "12y" "Protruding ear (HP:0000411); Abnormality of the nares (HP:0005288); Thick nasal alae (HP:0009928); Abnormality of the thorax (HP:0000765); Long fingers (HP:0100807); Long toe (HP:0010511); Reduced visual acuity (HP:0007663); Nystagmus (HP:0000639); Optic atrophy (HP:0000648); Abnormal macular morphology (HP:0001103); Abnormal timing of flash visual evoked potentials (HP:0030461); Abnormal timing of pattern onset/offset visual evoked potentials (HP:0030458); Eccentric visual fixation (HP:0025549); Intellectual disability, moderate (HP:0002342); Cerebral visual impairment (HP:0100704); Neurodevelopmental delay (HP:0012758); Visual field defect (HP:0001123); Strabismus (HP:0000486)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "3w" "" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "" "07y04m" "" "" "" "" "" "" "" "" "" "" "0000137770" "00187" "00172906" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000137771" "00187" "00172907" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000137772" "00187" "00172908" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000137773" "00187" "00172909" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000144011" "00344" "00181185" "02552" "Isolated (sporadic)" "" "" "01y09m" "" "" "" "" "" "" "" "" "" "" "" "" "0000239770" "00198" "00316025" "00006" "Familial, autosomal recessive" "14y" "see paper; ..., fetal reduced movements, breech presentation; birth moderate to severe congenital hypotonia, weak cry, thin muscle build, talipes, tube fed first 12 days, ongoing difficulties with suck during infancy but able to bottle feed; mild facial weakness, high arched palate, elongated face, neck flexion and axial weakness; limb weakness PUL ++, DUL +, PLL +++, DLL ++, weakest muscle groups neck flexors, axial muscles, hip extensors, abductors; generalized muscle atrophy most marked in shoulders; 2y-oromotor difficulties resolved; 2y-hip, knee and Achilles tendon contractures; delayed motor milestones, walk2y9m, jump-3-4y, run-3-4y (slowly); childhood: frequent falls, positive Gowers’ sign, ongoing improvements in strength and motor skills over time14y-still ambulant (500 m) with slow waddling gait, 4y-uses splints, K-walker and manual wheelchair for longer distances; 3y9m-mild ophthalmoplegia (upgaze weakness) noted, large asymmetrical dolichocephalic head shape, frontal bossing, micrognathia; 2y-scoliosis, spinal rigidity; 12y-spinal fusion for scoliosis; 6y-BIPAP required, 13y10m FVC 0.44; pes planus childhood; height initially 50th percentile fell to 2–10th percentile 13y10m (in part due to scoliosis); hypermobility; mild asymmetrical pectus excavatum; 12y-short-lived episodic weakness during febrile illnesses, post-exercise and on hot days; 13y-activity-limiting increase in fatigability, fatigues quickly with walking and writing; improved strength endurance with regular oral salbutamol" "" "" "" "" "" "" "" "" "" "" "" "congenital myopathy" "" "0000341662" "00668" "00453018" "00006" "Isolated (sporadic)" "" "intellectual disability; childhood hypotonia; no microcephaly; short stature; no overweight; no brachycephaly; midface hypoplasia; no coarse facies; hypertelorism; no synophrys; no arched eyebrows; short nose; anteverted nostrils; macroglossia (protruding tongue); tented and cupid-bowed upper lip; thick and everted lower lip; pointed chin; no dysplastic ear helices; no brachydactyly; no cardiac anomaly; no renal anomaly; behavioral problems; no hearing loss (sensorineural); no seizures" "" "" "" "" "" "" "" "" "" "" "" "Kleefstra syndrome phenotypic spectrum" "" ## Screenings ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000039641" "00039400" "1" "01158" "01158" "2015-06-15 14:53:39" "" "" "SEQ-NG" "DNA" "" "" "0000173789" "00172906" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000173790" "00172907" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000173791" "00172908" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000173792" "00172909" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000182143" "00181185" "1" "02552" "02552" "2018-10-02 15:28:10" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000296272" "00295104" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306451" "00305322" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000317207" "00316025" "1" "00006" "00006" "2020-11-01 16:34:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000454629" "00453018" "1" "00006" "00006" "2024-08-14 10:39:18" "" "" "SEQ-NG;SEQ" "DNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000173789" "CXorf21" "0000173790" "KLHL15" "0000173791" "KLHL15" "0000173792" "HMGN5" "0000317207" "SCN4A" ## 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 = 41 "{{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}}" "0000007238" "20" "50" "X" "84534383" "84534383" "subst" "0.982977" "00037" "POF1B_000001" "g.84534383A>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.85279377A>C" "" "VUS" "" "0000007239" "20" "50" "X" "84563135" "84563135" "subst" "0.838931" "00037" "POF1B_000004" "g.84563135T>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.85308129T>A" "" "VUS" "" "0000009339" "20" "50" "X" "84534383" "84534383" "subst" "0.982977" "00037" "POF1B_000001" "g.84534383A>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.85279377A>C" "" "VUS" "" "0000009340" "20" "50" "X" "84563135" "84563135" "subst" "0.838931" "00037" "POF1B_000004" "g.84563135T>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.85308129T>A" "" "VUS" "" "0000067260" "21" "30" "X" "84569452" "84569452" "subst" "0.00103293" "01158" "POF1B_000005" "g.84569452G>A" "" "{PMID:Bosch 2016:26350515}, {DOI:Bosch 2016:10.1038/ejhg.2015.186}" "" "" "" "Germline" "" "" "0" "" "" "g.85314446G>A" "" "likely benign" "" "0000297208" "0" "10" "X" "84563135" "84563135" "subst" "0.838931" "02325" "POF1B_000004" "g.84563135T>A" "" "" "" "POF1B(NM_024921.4):c.1045A>T (p.M349L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85308129T>A" "" "benign" "" "0000306050" "0" "30" "X" "84561204" "84561204" "subst" "0.000387855" "01943" "POF1B_000008" "g.84561204G>T" "" "" "" "POF1B(NM_024921.3):c.1300C>A (p.Q434K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85306198G>T" "" "likely benign" "" "0000306051" "0" "10" "X" "84560863" "84560863" "subst" "0.0012265" "01943" "POF1B_000007" "g.84560863G>C" "" "" "" "POF1B(NM_024921.3):c.1371C>G (p.G457=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85305857G>C" "" "benign" "" "0000306052" "0" "30" "X" "84537206" "84537206" "subst" "0.00100792" "01943" "POF1B_000006" "g.84537206T>C" "" "" "" "POF1B(NM_024921.3):c.1764+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85282200T>C" "" "likely benign" "" "0000306053" "0" "30" "X" "84634375" "84634375" "subst" "0.000136482" "01943" "POF1B_000013" "g.84634375G>T" "" "" "" "POF1B(NM_024921.3):c.85C>A (p.H29N), POF1B(NM_024921.4):c.85C>A (p.H29N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85379370G>T" "" "likely benign" "" "0000306054" "0" "30" "X" "84569452" "84569452" "subst" "0.00103293" "01943" "POF1B_000005" "g.84569452G>A" "" "" "" "POF1B(NM_024921.3):c.943C>T (p.R315C, p.(Arg315Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85314446G>A" "" "likely benign" "" "0000306055" "0" "10" "X" "84563194" "84563194" "subst" "0.00274264" "01943" "POF1B_000009" "g.84563194C>T" "" "" "" "POF1B(NM_024921.3):c.986G>A (p.R329Q, p.(Arg329Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85308188C>T" "" "benign" "" "0000334808" "0" "50" "X" "84563194" "84563194" "subst" "0.00274264" "01804" "POF1B_000009" "g.84563194C>T" "" "" "" "POF1B(NM_024921.3):c.986G>A (p.R329Q, p.(Arg329Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85308188C>T" "" "VUS" "" "0000334810" "0" "30" "X" "84569510" "84569510" "subst" "0.000540284" "01804" "POF1B_000010" "g.84569510C>T" "" "" "" "POF1B(NM_024921.3):c.885G>A (p.S295=, p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85314504C>T" "" "likely benign" "" "0000394028" "1" "50" "X" "84563135" "84563135" "subst" "0.838931" "00124" "POF1B_000004" "g.84563135T>A" "23/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "recurrent, found 23 times" "Germline" "" "" "0" "" "" "g.85308129T>A" "" "VUS" "" "0000394029" "1" "30" "X" "84560851" "84560851" "subst" "0.000725914" "00124" "POF1B_000014" "g.84560851C>T" "2/208 cases" "{PMID:Tarpey 2009:19377476}" "" "T461T" "recurrent, found 2 times" "Germline" "" "" "0" "" "" "g.85305845C>T" "" "likely benign" "" "0000394030" "1" "50" "X" "84600873" "84600873" "subst" "0.00854837" "00124" "POF1B_000011" "g.84600873C>G" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.85345867C>G" "" "VUS" "" "0000394031" "1" "50" "X" "84563194" "84563194" "subst" "0.00274264" "00124" "POF1B_000009" "g.84563194C>T" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.85308188C>T" "" "VUS" "" "0000405976" "21" "90" "X" "84563194" "84563194" "subst" "0.00274264" "02552" "POF1B_000009" "g.84563194C>T" "" "{PMID:Papuc 2019:30552426}" "" "" "" "Germline" "" "rs75398746" "0" "" "" "g.85308188C>T" "" "pathogenic" "" "0000577708" "0" "30" "X" "84569452" "84569452" "subst" "0.00103293" "01804" "POF1B_000005" "g.84569452G>A" "" "" "" "POF1B(NM_024921.3):c.943C>T (p.R315C, p.(Arg315Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.85314446G>A" "" "likely benign" "" "0000577710" "0" "30" "X" "84601026" "84601026" "subst" "3.58526E-5" "01943" "POF1B_000017" "g.84601026C>A" "" "" "" "POF1B(NM_024921.3):c.563G>T (p.C188F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.85346020C>A" "" "likely benign" "" "0000577711" "0" "30" "X" "84634347" "84634347" "subst" "0.0029103" "01804" "POF1B_000018" "g.84634347T>G" "" "" "" "POF1B(NM_024921.3):c.113A>C (p.(Gln38Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.85379342T>G" "" "likely benign" "" "0000619943" "0" "50" "X" "84569502" "84569502" "subst" "4.39859E-5" "01943" "POF1B_000019" "g.84569502A>G" "" "" "" "POF1B(NM_024921.3):c.893T>C (p.I298T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.85314496A>G" "" "VUS" "" "0000652961" "1" "10" "X" "84534159" "84534159" "subst" "0" "03575" "POF1B_000020" "g.84534159A>C" "60/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "60 heterozygous; {DB:CLININrs12007581}" "Germline" "" "rs12007581" "0" "" "" "g.85279153A>C" "" "benign" "" "0000670139" "0" "10" "X" "84534159" "84534159" "subst" "0" "03575" "POF1B_000020" "g.84534159A>C" "29/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "29 homozygous; {DB:CLININrs12007581}" "Germline" "" "rs12007581" "0" "" "" "g.85279153A>C" "" "benign" "" "0000682681" "0" "50" "X" "84586013" "84586013" "subst" "2.90368E-5" "01943" "POF1B_000021" "g.84586013G>A" "" "" "" "POF1B(NM_024921.3):c.796C>T (p.R266C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693771" "0" "30" "X" "84634375" "84634375" "subst" "0.000136482" "02326" "POF1B_000013" "g.84634375G>T" "" "" "" "POF1B(NM_024921.3):c.85C>A (p.H29N), POF1B(NM_024921.4):c.85C>A (p.H29N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000699713" "0" "30" "X" "84561204" "84561204" "subst" "0.000387855" "00006" "POF1B_000008" "g.84561204G>T" "" "{PMID:Zaharieva 2016:26700687}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000699714" "2" "70" "X" "84634230" "84634230" "subst" "0" "00006" "POF1B_000022" "g.84634230G>T" "" "{PMID:Zaharieva 2016:26700687}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000729242" "0" "30" "X" "84614571" "84614571" "subst" "1.76584E-5" "01943" "POF1B_000023" "g.84614571A>G" "" "" "" "POF1B(NM_024921.3):c.422T>C (p.V141A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810705" "0" "50" "X" "84600868" "84600868" "subst" "0" "01943" "POF1B_000016" "g.84600868G>A" "" "" "" "POF1B(NM_024921.3):c.721C>T (p.Q241*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810706" "0" "30" "X" "84634269" "84634269" "subst" "0.000607055" "01943" "POF1B_000024" "g.84634269T>C" "" "" "" "POF1B(NM_024921.3):c.191A>G (p.Q64R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856825" "0" "30" "X" "84569510" "84569510" "subst" "0.000540284" "01943" "POF1B_000010" "g.84569510C>T" "" "" "" "POF1B(NM_024921.3):c.885G>A (p.S295=, p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867598" "0" "30" "X" "84559457" "84559457" "subst" "4.47042E-5" "01943" "POF1B_000025" "g.84559457A>C" "" "" "" "POF1B(NM_024921.3):c.1458T>G (p.H486Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867599" "0" "50" "X" "84563136" "84563136" "subst" "9.03419E-5" "01943" "POF1B_000026" "g.84563136A>T" "" "" "" "POF1B(NM_024921.3):c.1044T>A (p.D348E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867600" "0" "50" "X" "84563194" "84563194" "subst" "0" "01943" "POF1B_000027" "g.84563194C>A" "" "" "" "POF1B(NM_024921.3):c.986G>T (p.R329L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867601" "0" "90" "X" "84606355" "84606355" "subst" "1.91674E-5" "01943" "POF1B_000028" "g.84606355C>A" "" "" "" "POF1B(NM_024921.3):c.540+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000984883" "0" "30" "X" "84600970" "84600970" "subst" "0.00373493" "01804" "POF1B_000029" "g.84600970G>A" "" "" "" "POF1B(NM_024921.4):c.619C>T (p.(Pro207Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000989514" "0" "70" "X" "84560917" "84560917" "subst" "0" "00006" "POF1B_000030" "g.84560917C>G" "" "{PMID:Kleefstra 2012:22726846}" "" "" "" "De novo" "" "" "0" "" "" "g.85305911C>G" "" "VUS" "" "0001006998" "0" "30" "X" "84560827" "84560827" "subst" "0" "01804" "POF1B_000031" "g.84560827C>T" "" "" "" "POF1B(NM_024921.3):c.1407G>A (p.(Met469Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044532" "0" "50" "X" "84569437" "84569437" "subst" "0" "01804" "POF1B_000032" "g.84569437C>G" "" "" "" "POF1B(NM_024921.4):c.957+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 POF1B ## Count = 41 "{{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}}" "0000007238" "00000664" "50" "1814" "0" "1814" "0" "c.*44T>G" "r.(=)" "p.(=)" "" "0000007239" "00000664" "50" "1045" "0" "1045" "0" "c.1045A>T" "r.(?)" "p.(Met349Leu)" "" "0000009339" "00000664" "50" "1814" "0" "1814" "0" "c.*44T>G" "r.(=)" "p.(=)" "" "0000009340" "00000664" "50" "1045" "0" "1045" "0" "c.1045A>T" "r.(?)" "p.(Met349Leu)" "" "0000067260" "00000664" "30" "943" "0" "943" "0" "c.943C>T" "r.(?)" "p.(Arg315Cys)" "" "0000297208" "00000664" "10" "1045" "0" "1045" "0" "c.1045A>T" "r.(?)" "p.(Met349Leu)" "" "0000306050" "00000664" "30" "1300" "0" "1300" "0" "c.1300C>A" "r.(?)" "p.(Gln434Lys)" "" "0000306051" "00000664" "10" "1371" "0" "1371" "0" "c.1371C>G" "r.(?)" "p.(Gly457=)" "" "0000306052" "00000664" "30" "1764" "3" "1764" "3" "c.1764+3A>G" "r.spl?" "p.?" "" "0000306053" "00000664" "30" "85" "0" "85" "0" "c.85C>A" "r.(?)" "p.(His29Asn)" "" "0000306054" "00000664" "30" "943" "0" "943" "0" "c.943C>T" "r.(?)" "p.(Arg315Cys)" "" "0000306055" "00000664" "10" "986" "0" "986" "0" "c.986G>A" "r.(?)" "p.(Arg329Gln)" "" "0000334808" "00000664" "50" "986" "0" "986" "0" "c.986G>A" "r.(?)" "p.(Arg329Gln)" "" "0000334810" "00000664" "30" "885" "0" "885" "0" "c.885G>A" "r.(?)" "p.(Ser295=)" "" "0000394028" "00000664" "50" "1045" "0" "1045" "0" "c.1045A>T" "r.(?)" "p.(Met349Leu)" "" "0000394029" "00000664" "30" "1383" "0" "1383" "0" "c.1383G>A" "r.(=)" "p.(=)" "" "0000394030" "00000664" "50" "716" "0" "716" "0" "c.716G>C" "r.(?)" "p.(Cys239Ser)" "" "0000394031" "00000664" "50" "986" "0" "986" "0" "c.986G>A" "r.(?)" "p.(Arg329Gln)" "" "0000405976" "00000664" "90" "986" "0" "986" "0" "c.986G>A" "r.(?)" "p.(Arg329Gln)" "" "0000577708" "00000664" "30" "943" "0" "943" "0" "c.943C>T" "r.(?)" "p.(Arg315Cys)" "" "0000577710" "00000664" "30" "563" "0" "563" "0" "c.563G>T" "r.(?)" "p.(Cys188Phe)" "" "0000577711" "00000664" "30" "113" "0" "113" "0" "c.113A>C" "r.(?)" "p.(Gln38Pro)" "" "0000619943" "00000664" "50" "893" "0" "893" "0" "c.893T>C" "r.(?)" "p.(Ile298Thr)" "" "0000652961" "00000664" "10" "2038" "0" "2038" "0" "c.*268T>G" "r.(=)" "p.(=)" "" "0000670139" "00000664" "10" "2038" "0" "2038" "0" "c.*268T>G" "r.(=)" "p.(=)" "" "0000682681" "00000664" "50" "796" "0" "796" "0" "c.796C>T" "r.(?)" "p.(Arg266Cys)" "" "0000693771" "00000664" "30" "85" "0" "85" "0" "c.85C>A" "r.(?)" "p.(His29Asn)" "" "0000699713" "00000664" "30" "1300" "0" "1300" "0" "c.1300C>A" "r.(?)" "p.(Gln434Lys)" "" "0000699714" "00000664" "70" "230" "0" "230" "0" "c.230C>A" "r.(?)" "p.(Pro77His)" "" "0000729242" "00000664" "30" "422" "0" "422" "0" "c.422T>C" "r.(?)" "p.(Val141Ala)" "" "0000810705" "00000664" "50" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Gln241Ter)" "" "0000810706" "00000664" "30" "191" "0" "191" "0" "c.191A>G" "r.(?)" "p.(Gln64Arg)" "" "0000856825" "00000664" "30" "885" "0" "885" "0" "c.885G>A" "r.(?)" "p.(Ser295=)" "" "0000867598" "00000664" "30" "1458" "0" "1458" "0" "c.1458T>G" "r.(?)" "p.(His486Gln)" "" "0000867599" "00000664" "50" "1044" "0" "1044" "0" "c.1044T>A" "r.(?)" "p.(Asp348Glu)" "" "0000867600" "00000664" "50" "986" "0" "986" "0" "c.986G>T" "r.(?)" "p.(Arg329Leu)" "" "0000867601" "00000664" "90" "540" "1" "540" "1" "c.540+1G>T" "r.spl?" "p.?" "" "0000984883" "00000664" "30" "619" "0" "619" "0" "c.619C>T" "r.(?)" "p.(Pro207Ser)" "" "0000989514" "00000664" "70" "1318" "-1" "1318" "-1" "c.1318-1G>C" "r.spl" "p.?" "" "0001006998" "00000664" "30" "1407" "0" "1407" "0" "c.1407G>A" "r.(?)" "p.(Met469Ile)" "" "0001044532" "00000664" "50" "957" "1" "957" "1" "c.957+1G>C" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{variantid}}" "0000000209" "0000007238" "0000000209" "0000007239" "0000000210" "0000009339" "0000000210" "0000009340" "0000039641" "0000067260" "0000173789" "0000394028" "0000173790" "0000394029" "0000173791" "0000394030" "0000173792" "0000394031" "0000182143" "0000405976" "0000296272" "0000652961" "0000306451" "0000670139" "0000317207" "0000699713" "0000317207" "0000699714" "0000454629" "0000989514"