### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PIEZO2) # 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}}" "PIEZO2" "piezo-type mechanosensitive ion channel component 2" "18" "p11.21" "unknown" "NG_034005.1" "UD_139312760581" "" "http://www.LOVD.nl/PIEZO2" "https://databases.lovd.nl/shared/refseq/CDKN2A_NM_058195.3_codingDNA.html" "1" "26270" "63895" "613629" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/PIEZO2_NM_001378183.1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2014-05-23 00:00:00" "00006" "2022-12-21 12:00:01" "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}}" "00025780" "PIEZO2" "transcript variant 1" "000" "NM_001378183.1" "" "NP_001365112.1" "" "" "" "-981" "9878" "8598" "11149568" "10670244" "00006" "2022-12-21 11:18:00" "" "" ## 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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00384" "DA5" "arthrogryposis, distal, type 5 (DA-5)" "AD" "108145" "" "" "" "00006" "2014-05-27 12:43:48" "00006" "2021-12-10 21:51:32" "00385" "DA" "arthrogryposis, distal (DA)" "" "" "" "" "" "00006" "2014-05-27 12:44:13" "00006" "2015-12-08 23:59:30" "00418" "DA3" "arthrogryposis, distal, type 3 (DA-3, Gordon syndrome)" "AD" "114300" "" "" "" "00006" "2014-06-16 13:06:26" "00006" "2021-12-10 21:51:32" "00419" "MWKS" "Marden Walker syndrome (MWKS)" "AD" "248700" "" "" "" "00006" "2014-06-16 13:07:26" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05487" "cancer, rectal" "cancer, rectal" "" "" "" "" "" "00006" "2018-10-25 09:29:33" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "05618" "NMD" "neuromuscular disorder (NMD)" "" "" "" "" "" "00006" "2019-07-02 19:46:12" "" "" "06398" "DAIPT" "Arthrogryposis, distal, with impaired proprioception and touch" "AR" "617146" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "PIEZO2" "00384" "PIEZO2" "00418" "PIEZO2" "00419" "PIEZO2" "06398" ## Individuals ## Do not remove or alter this header ## ## Count = 58 "{{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}}" "00016696" "" "" "" "1" "" "00705" "{PMID:Coste 2013:23487782}" "Mother of 23487782-Ind2" "F" "?" "" "" "0" "" "operated for hypertrophic, constricted neck muscles; Physical therapy" "Unknown" "" "00016697" "" "" "" "1" "" "00705" "{PMID:Coste 2013:23487782}" "Son of 23487782-Ind1" "M" "?" "" "" "0" "" "Physical therapy" "Unknown" "" "00016703" "" "" "" "1" "" "00705" "{PMID:Coste 2013:23487782}" "" "F" "?" "" "" "0" "" "Between the ages of 2–15 y, she required multiple orthopedic procedures on her hips, knees, and feet to improve function." "Unknown" "" "00016710" "" "" "" "4" "" "00705" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "2-generation family, affected mother, daugther and 2 sons" "-" "no" "" "" "0" "" "" "" "" "00016711" "" "" "" "1" "" "00705" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "" "" "0" "" "" "" "" "00016713" "" "" "" "1" "" "00705" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "" "00016720" "" "" "" "9" "" "00705" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "3-generation family, 9 affecteds (6F, 3M)" "" "" "" "" "0" "" "" "" "" "00016723" "" "" "" "4" "" "00705" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "3-generation family, 4 affecteds" "" "" "" "" "0" "" "" "" "" "00049809" "" "" "" "1" "" "00006" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "" "00049810" "" "" "" "1" "" "00006" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "" "00049811" "" "" "" "1" "" "00006" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "" "00049812" "" "" "" "2" "" "00006" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "2-generation family, affected mother/son" "" "" "" "" "0" "" "" "" "" "00049813" "" "" "" "1" "" "00006" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "2-generation family, 1 affected" "F" "" "" "" "0" "" "" "" "" "00049814" "" "" "" "1" "" "00006" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "" "00049815" "" "" "" "2" "" "00006" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "2-generation family, affected mother/son" "" "" "" "" "0" "" "" "" "" "00049816" "" "" "" "3" "" "00006" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "5-generation family, 3 affecteds (2F, M)" "" "" "" "" "0" "" "" "" "" "00049817" "" "" "" "6" "" "00006" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "5-generation family, 6 affecteds (F, 5M)" "" "" "" "" "0" "" "" "" "" "00049818" "" "" "" "3" "" "00006" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "3-generation family, 3 affecteds (2F, M)" "" "" "" "" "0" "" "" "" "" "00049819" "" "" "" "2" "" "00006" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "2-generation family, affected father/son" "M" "" "" "" "0" "" "" "" "" "00049820" "" "" "" "2" "" "00006" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "3-generation family, affected father/son" "M" "" "" "" "0" "" "" "" "" "00049821" "" "" "" "2" "" "00006" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "3-generation family, affected father/son" "" "" "" "" "0" "" "" "" "" "00049822" "" "" "" "2" "" "00006" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "3-generation family, affected mother/son" "" "" "" "" "0" "" "" "" "" "00049823" "" "" "" "3" "" "00006" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "3-generation family, 3 affecteds (F, 2M)" "" "" "" "" "0" "" "" "" "" "00049824" "" "" "" "2" "" "00006" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "3-generation family, affected mother/son" "" "" "" "" "0" "" "" "" "" "00049825" "" "" "" "2" "" "00006" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "3-generation family, affected father/daugther" "" "" "" "" "0" "" "" "" "" "00049826" "" "" "" "2" "" "00006" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "3-generation family, affected mother/daugther" "F" "" "" "" "0" "" "" "" "" "00049827" "" "" "" "1" "" "00006" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "2-generation family, 1 affected" "M" "" "" "" "0" "" "" "" "" "00049828" "" "" "" "1" "" "00006" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "" "00049829" "" "" "" "1" "" "00006" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "2-generation family, 1 affected, unaffected parents (mosaic father)" "M" "" "" "" "0" "" "" "" "" "00049830" "" "" "" "1" "" "00006" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "3-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "" "00049831" "" "" "" "1" "" "00006" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "3-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "" "00049832" "" "" "" "1" "" "00006" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "" "00049833" "" "" "" "1" "" "00006" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "" "00049834" "" "" "" "1" "" "00006" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "" "00049835" "" "" "" "1" "" "00006" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "" "00049836" "" "" "" "1" "" "00006" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "" "00049837" "" "" "" "4" "" "00006" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "3-generation family, 4 affectedS (3F, M)" "" "" "" "" "0" "" "" "" "" "00049838" "" "" "" "1" "" "00006" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "" "00208603" "" "" "" "2" "" "03131" "" "" "" "" "" "" "0" "" "" "" "Fam8" "00208611" "" "" "" "2" "" "03131" "" "" "" "" "" "" "0" "" "" "" "Fam918" "00208612" "" "" "" "1" "" "03131" "" "" "" "" "" "" "0" "" "" "" "Fam1213" "00210169" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00227816" "" "" "" "1" "" "01807" "" "" "?" "" "" "" "0" "" "" "" "" "00291907" "" "" "" "80" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291908" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304616" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00307191" "" "" "" "1" "" "00534" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Australia" "" "0" "" "" "" "D15-1255" "00307193" "" "" "" "1" "" "00534" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Australia" "" "0" "" "" "" "D15-1298" "00307198" "" "" "" "1" "" "00534" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Australia" "" "0" "" "" "" "D16-0479" "00390061" "" "" "" "1" "" "00006" "{PMID:Kritioti 2021:34324503}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Cyprus" "" "0" "" "" "Greece" "Pat8" "00408704" "" "" "" "3" "" "00006" "{PMID:Thomas 2022:34085946}" "patient, affected father and sister" "" "" "France" "" "0" "" "" "" "Pat66" "00415198" "" "" "" "1" "" "00000" "{PMID:Matias-Perez 2018:30181649}" "PIEZO2 family, proband" "F" "" "" "" "0" "" "" "Mexican" "8" "00415199" "" "" "" "1" "" "00000" "{PMID:Matias-Perez 2018:30181649}" "PIEZO2 family, proband\'s mother" "F" "" "" "" "0" "" "" "Mexican" "8\'s mother" "00426165" "" "" "" "1" "" "00006" "{PMID:Al-Kasbi 2022:36344539}" "patient, other affecteds in family" "F" "" "Oman" "" "0" "" "" "" "10MS9600" "00428071" "" "" "" "1" "" "00006" "{PMID:Paul 2023:36528028}, {DOI:Paul 2023:10.1016/j.ajhg.2022.11.011}" "patent ductus arteriosus,siblings with ADHD, dyslexia, tics; (aternal aunt with Ccerebral palsy Iintellectual disability hydrocephalus, aeizures)" "M" "" "United States" "" "0" "" "" "Europe" "Pat10" "00428228" "" "" "" "2" "" "00006" "{PMID:Falb 2023:34740919}, {DOI:Falb 2023:10.1136/jmedgenet-2021-108064}" "family, affected mother daughter" "F" "" "Germany" "" "0" "" "" "" "Fam9PatII1" "00428242" "" "" "00428228" "1" "" "00006" "{PMID:Falb 2023:34740919}, {DOI:Falb 2023:10.1136/jmedgenet-2021-108064}" "mother" "F" "" "Germany" "" "0" "" "" "" "Fam9mother" "00459416" "" "" "" "1" "" "00006" "{PMID:Bayam 2024:39609633}" "3-generation family, 3 affected, unaffected heterozygous carrier parents, older sister (PatII1) 7d-deceased" "M" "yes" "Sudan" "1d" "0" "" "" "" "Fam1PatII3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 58 "{{individualid}}" "{{diseaseid}}" "00016696" "00198" "00016697" "00198" "00016703" "00198" "00016710" "00418" "00016711" "00418" "00016713" "00418" "00016720" "00384" "00016723" "00384" "00049809" "00418" "00049810" "00418" "00049811" "00418" "00049812" "00418" "00049813" "00418" "00049814" "00418" "00049815" "00418" "00049816" "00384" "00049817" "00384" "00049818" "00384" "00049819" "00384" "00049820" "00384" "00049821" "00384" "00049822" "00384" "00049823" "00384" "00049824" "00384" "00049825" "00384" "00049826" "00384" "00049827" "00384" "00049828" "00384" "00049829" "00384" "00049830" "00384" "00049831" "00384" "00049832" "00384" "00049833" "00384" "00049834" "00384" "00049835" "00384" "00049836" "00384" "00049837" "00384" "00049838" "00419" "00208603" "05487" "00208611" "05487" "00208612" "05487" "00227816" "00198" "00291907" "00198" "00291908" "00198" "00304616" "00198" "00307191" "00385" "00307193" "00385" "00307198" "00385" "00390061" "00198" "00408704" "05618" "00415198" "04214" "00415199" "04214" "00426165" "00139" "00426165" "00385" "00428071" "05611" "00428228" "00198" "00428242" "00198" "00459416" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00384, 00385, 00418, 00419, 04214, 05487, 05611, 05618, 06398 ## Count = 53 "{{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}}" "0000015223" "00198" "00016696" "00705" "Isolated (sporadic)" "35y" "Short stature, Narrow/high palate, Reduced ability to open mouth, Decreased facial expression, Ophthalmoplegia, Deep-set eyes, Ptosis, Hypermetropia +7 oculus uterque, Hunched anteverted shoulders, Restrictive lung disease, Spine stiffness, Hypermobile first metacarpophalageal, Absent phalangeal creases, Poorly formed palmar creases, Limited wrist extension, abstent anterior cruciate ligaments knee, Camptodactyly, Clinodactyly Digits III–V, Dimples over large joints, Exertional dyspnea, Constriction of urethra, FEV1/FVC 60%/53%, Increased muscle tone, Tendon reflexes Weak and absent in knees and ankles, Normal intelligence, Musculoskeletal pain major problem, Altered pain sensation Possibly as child" "" "" "" "" "" "" "" "" "" "" "" "0000015225" "00198" "00016697" "00705" "Isolated (sporadic)" "05y" "Short stature, Narrow/high palate, Reduced ability to open mouth, Decreased facial expression, Ophthalmoplegia, Deep-set eyes, Blepharophimosis, Ptosis, Hypermetropia +8/+10, Hunched anteverted shoulders, Likely Restrictive lung disease, Spine stiffness, Hypermobile first metacarpophalageal, Absent phalangeal creases, Poorly formed palmar creases, Limited wrist extension, Probably Absent ACL (knee), Camptodactyly, Clinodactyly Digit V, Club feet (left), Dimples over large joints, Exertional dyspnea, Weak Tendon reflexes, Normal intelligence, High pain threshold suspected" "" "" "" "" "" "" "" "" "" "" "" "0000015228" "00198" "00016703" "00705" "Isolated (sporadic)" "38y" "Short stature, Narrow/high palate, Reduced ability to open mouth, Decreased facial expression, Ophthalmoplegia, Deep-set eyes, Ptosis, Hypermetropia, Duane anomaly, Abnormal retinal pigmentation, Macular retinal folds, Hunched anteverted shoulders, Restrictive lung disease, Spine stiffness, Hypermobile first metacarpophalageal, Absent phalangeal creases, Poorly formed palmar creases, Limited wrist extension, Camptodactyly, Clinodactyly, Exertional dyspnea, FEV1/FVC 28%/26%, Increased muscle tone, Tendon reflexes weak, Normal intelligence, Hearing loss" "" "" "" "" "" "" "" "" "" "" "" "0000015234" "00384" "00016720" "00705" "Familial, autosomal dominant" "" "contractures hand/feet; III7 mild ptosis; ophthalmoplegia (except II6); I2/II2/II5 pulmonary disease" "" "" "" "" "" "" "" "" "" "" "" "0000015235" "00384" "00016723" "00705" "Familial, autosomal dominant" "" "contractures hand/feet, short stature, mild bilateral ptosis, bilateral ophthalmoplegia, scoliosis, pulmonary disease" "" "" "" "" "" "" "" "" "" "" "" "0000036580" "00418" "00016710" "00006" "Familial, autosomal dominant" "" "contractures hand/feet, short stature, micrognathia (except I2); I2 scoliosis" "" "" "" "" "" "" "" "" "" "" "" "0000036581" "00418" "00016711" "00006" "Isolated (sporadic)" "" "contractures hand/feet, cleft pallate, short stature, micrognathia, ptosis, scoliosis" "" "" "" "" "" "" "" "" "" "" "" "0000036582" "00418" "00016713" "00006" "Isolated (sporadic)" "" "contractures hand/feet, cleft pallate, micrognathia, rigid scoliosis" "" "" "" "" "" "" "" "" "" "" "" "0000036583" "00418" "00049809" "00006" "Isolated (sporadic)" "" "contractures hand/feet, cleft pallate" "" "" "" "" "" "" "" "" "" "" "" "0000036584" "00418" "00049810" "00006" "Isolated (sporadic)" "" "contractures hand/feet, cleft pallate, micrognathia, ophtalmoplegia" "" "" "" "" "" "" "" "" "" "" "" "0000036585" "00418" "00049811" "00006" "Isolated (sporadic)" "" "contractures hand/feet, bilid uvula, micrognathia, mild ptosis" "" "" "" "" "" "" "" "" "" "" "" "0000036586" "00418" "00049812" "00006" "Isolated (sporadic)" "" "contractures hand/feet, bilid uvula, micrognathia, scoliosis" "" "" "" "" "" "" "" "" "" "" "" "0000036587" "00418" "00049813" "00006" "Isolated (sporadic)" "" "contractures hand/feet, cleft pallate, scoliosis, +/- cognitive delay, Chiari I malformation" "" "" "" "" "" "" "" "" "" "" "" "0000036588" "00418" "00049814" "00006" "Isolated (sporadic)" "" "contractures hand/feet, cleft pallate, short stature, micrognathia, ptosis, Chiari I malformation" "" "" "" "" "" "" "" "" "" "" "" "0000036589" "00418" "00049815" "00006" "Isolated (sporadic)" "" "contractures hand/feet, cleft pallate, short stature, ophthalmoplegia, scoliosis, Chiari I malformation, mild ptosis" "" "" "" "" "" "" "" "" "" "" "" "0000036590" "00384" "00049816" "00006" "Familial, autosomal dominant" "" "contractures hand/feet" "" "" "" "" "" "" "" "" "" "" "" "0000036591" "00384" "00049817" "00006" "Familial, autosomal dominant" "" "contractures hand/feet" "" "" "" "" "" "" "" "" "" "" "" "0000036592" "00384" "00049818" "00006" "Familial, autosomal dominant" "" "contractures hand/feet" "" "" "" "" "" "" "" "" "" "" "" "0000036593" "00384" "00049819" "00006" "Familial" "" "contractures hand/feet" "" "" "" "" "" "" "" "" "" "" "" "0000036594" "00384" "00049820" "00006" "Familial" "" "contractures hand/feet" "" "" "" "" "" "" "" "" "" "" "" "0000036595" "00384" "00049821" "00006" "Familial" "" "contractures hand/feet" "" "" "" "" "" "" "" "" "" "" "" "0000036596" "00384" "00049822" "00006" "Familial" "" "contractures hand/feet" "" "" "" "" "" "" "" "" "" "" "" "0000036597" "00384" "00049823" "00006" "Familial" "" "contractures hand/feet" "" "" "" "" "" "" "" "" "" "" "" "0000036598" "00384" "00049824" "00006" "Familial" "" "contractures hand/feet" "" "" "" "" "" "" "" "" "" "" "" "0000036599" "00384" "00049825" "00006" "Familial" "" "contractures hand/feet" "" "" "" "" "" "" "" "" "" "" "" "0000036600" "00384" "00049826" "00006" "Familial" "" "contractures hand/feet" "" "" "" "" "" "" "" "" "" "" "" "0000036601" "00384" "00049827" "00006" "Isolated (sporadic)" "" "contractures hand/feet" "" "" "" "" "" "" "" "" "" "" "" "0000036602" "00384" "00049828" "00006" "Isolated (sporadic)" "" "contractures hand/feet" "" "" "" "" "" "" "" "" "" "" "" "0000036603" "00384" "00049829" "00006" "Isolated (sporadic)" "" "contractures hand/feet" "" "" "" "" "" "" "" "" "" "" "" "0000036604" "00384" "00049830" "00006" "Isolated (sporadic)" "" "contractures hand/feet" "" "" "" "" "" "" "" "" "" "" "" "0000036605" "00384" "00049831" "00006" "Isolated (sporadic)" "" "contractures hand/feet" "" "" "" "" "" "" "" "" "" "" "" "0000036606" "00384" "00049832" "00006" "Isolated (sporadic)" "" "contractures hand/feet" "" "" "" "" "" "" "" "" "" "" "" "0000036607" "00384" "00049833" "00006" "Isolated (sporadic)" "" "contractures hand/feet" "" "" "" "" "" "" "" "" "" "" "" "0000036608" "00384" "00049834" "00006" "Isolated (sporadic)" "" "contractures hand/feet" "" "" "" "" "" "" "" "" "" "" "" "0000036609" "00384" "00049835" "00006" "Isolated (sporadic)" "" "contractures hand/feet" "" "" "" "" "" "" "" "" "" "" "" "0000036610" "00384" "00049836" "00006" "Isolated (sporadic)" "" "contractures hand/feet" "" "" "" "" "" "" "" "" "" "" "" "0000036611" "00384" "00049837" "00006" "Familial, autosomal dominant" "" "contractures hand/feet" "" "" "" "" "" "" "" "" "" "" "" "0000036612" "00419" "00049838" "00006" "Isolated (sporadic)" "" "contractures hand/feet" "" "" "" "" "" "" "" "" "" "" "" "0000158742" "00198" "00210169" "01164" "Unknown" "" "HP:0000925 (Abnormality of the vertebral column); HP:0003198 (Myopathy); HP:0003306 (Spinal rigidity); HP:0011805 (Abnormality of muscle morphology)" "" "" "" "" "" "" "" "" "" "" "" "0000171838" "00198" "00227816" "01807" "Unknown" "" "HP:0010871 (Sensory ataxia)" "" "" "" "" "" "" "" "" "" "" "" "0000232996" "00385" "00307191" "00534" "Familial, autosomal dominant" "" "distal arthrogryposis" "" "" "" "" "" "" "" "" "" "distal arthrogryposis" "" "0000232998" "00385" "00307193" "00534" "Unknown" "" "skeletal muscle atrophy; shoulder flexion contracture; elbow flexion contracture; knee flexion contracture; hip contracture; bilateral talipes equinovarus; absent palmar crease; stiff fingers; interphalangeal joint contracture of finger" "" "" "" "" "" "" "" "" "" "distal arthrogryposis" "" "0000233003" "00385" "00307198" "00534" "Unknown" "" "talipes (severe); joint contracture hand; down-sloping shoulders; limited elbow movement; short hallux; distal arthrogryposis" "" "" "" "" "" "" "" "" "" "distal arthrogryposis" "" "0000283600" "00198" "00390061" "00006" "Familial, autosomal recessive" "26y" "Severe intellectual disability, developmental delay, seizures, primary microcephaly, tetraparesis, spasticity with permanent contractures, long fingers, thickened alveolar ridge, thickened gums, strabismus, scoliosis, exaggerated reflexes, bilateral foot deformities" "" "" "" "" "" "" "" "" "" "" "" "0000300823" "05618" "00408704" "00006" "Unknown" "" "" "50y" "" "" "" "" "" "" "" "" "neuromuscular disorder" "" "0000306996" "04214" "00415198" "00000" "Familial, autosomal dominant" "1y" "microphthalmia left eye; sclerocornea and cornea plana right eye" "" "" "" "" "" "" "" "" "microphthalmia" "" "" "0000306997" "04214" "00415199" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "microphthalmia" "" "" "0000317315" "00139" "00426165" "00006" "Familial, autosomal recessive" "7y" "" "" "" "" "" "" "" "" "" "DEE84" "intellectual disability" "" "0000317355" "00385" "00426165" "00006" "Familial, autosomal recessive" "07y" "" "" "" "" "" "" "" "" "" "DAIPT" "arthrogryposis" "" "0000319017" "05611" "00428071" "00006" "Isolated (sporadic)" "4y" "brith 39w, weight 3.07 kg (28th%ile, Z score -0.58), length 53.3 cm (96th%ile, Z score +1.8), OFC 35 cm (66th%ile, Z score +0.42); delayed speech development; delayed gross motor development; delayed fine motor milestones; global developmental delay; Lennox Gastaut syndrome with tonic seizures and atypical absence seizures; diffuse hypotonia; MRI brain decreased volume of corpus callosum, small anterior commissure, subtle interdigitation of the inferomedial frontal gyri; no behavior abnormalities; no failure to thrive; feeding problems; dysmotility, dysphagia, constipation; no hypoventilation; bilateral exotropia; no hearing impairment; relative macrocephaly; congenital penile chordee with phimosis; episodes of dysautonomic storm" "" "" "" "" "" "" "" "" "" "neurodevelopmental dealy" "" "0000319140" "00198" "00428228" "00006" "Familial, autosomal dominant" "2m" "reduced fetal movements; contractures wrists, hips, knees, talipes equinovarus (bilateral); camptodactyly" "" "" "" "" "" "" "" "" "DA3" "fetal akinesia" "" "0000319154" "00198" "00428242" "00006" "Unknown" "" "similar to daughter" "" "" "" "" "" "" "" "" "" "" "" "0000347492" "05611" "00459416" "00006" "Familial, autosomal recessive" "1d" "see paper; ..., 1d-deceased; birth 37w, elective C-section, weight 2.5kg, OFC 32cm (-1 SD); MRI brain agenesis corpus callosum, microcephaly, pontocerebellar hypoplasia, dilated ventricular system, simplified gyral pattern; hyperreflexia; seizures 20-gw intrauterine, 1d myoclonic convulsions immediately after birth; no obvious facial dysmorphism" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" ## Screenings ## Do not remove or alter this header ## ## Count = 58 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000016658" "00016696" "1" "00705" "00705" "2014-05-27 09:31:02" "" "" "SEQ" "DNA" "" "" "0000016659" "00016697" "1" "00705" "00705" "2014-05-27 09:47:23" "" "" "SEQ" "DNA" "" "" "0000016667" "00016703" "1" "00705" "00705" "2014-05-27 10:12:28" "" "" "SEQ" "DNA" "" "" "0000016672" "00016710" "1" "00705" "00705" "2014-05-27 11:02:15" "" "" "SEQ" "DNA" "" "" "0000016673" "00016711" "1" "00705" "00705" "2014-05-27 11:16:41" "" "" "SEQ" "DNA" "" "" "0000016678" "00016713" "1" "00705" "00705" "2014-05-27 12:08:17" "" "" "SEQ" "DNA" "" "" "0000016683" "00016720" "1" "00705" "00705" "2014-05-27 13:27:30" "" "" "SEQ" "DNA" "" "" "0000016685" "00016723" "1" "00705" "00705" "2014-05-27 13:33:36" "" "" "SEQ" "DNA" "" "" "0000049730" "00049809" "1" "00006" "00006" "2015-09-12 18:00:01" "" "" "SEQ" "DNA" "" "" "0000049731" "00049810" "1" "00006" "00006" "2015-09-12 18:00:01" "" "" "SEQ" "DNA" "" "" "0000049732" "00049811" "1" "00006" "00006" "2015-09-12 18:00:01" "" "" "SEQ" "DNA" "" "" "0000049733" "00049812" "1" "00006" "00006" "2015-09-12 18:00:01" "" "" "SEQ" "DNA" "" "" "0000049734" "00049813" "1" "00006" "00006" "2015-09-12 18:00:01" "" "" "SEQ" "DNA" "" "" "0000049735" "00049814" "1" "00006" "00006" "2015-09-12 18:00:01" "" "" "SEQ" "DNA" "" "" "0000049736" "00049815" "1" "00006" "00006" "2015-09-12 18:00:01" "" "" "SEQ" "DNA" "" "" "0000049737" "00049816" "1" "00006" "00006" "2015-09-12 18:00:01" "" "" "SEQ" "DNA" "" "" "0000049738" "00049817" "1" "00006" "00006" "2015-09-12 18:00:01" "" "" "SEQ" "DNA" "" "" "0000049739" "00049818" "1" "00006" "00006" "2015-09-12 18:00:01" "" "" "SEQ" "DNA" "" "" "0000049740" "00049819" "1" "00006" "00006" "2015-09-12 18:00:01" "" "" "SEQ" "DNA" "" "" "0000049742" "00049821" "1" "00006" "00006" "2015-09-12 18:00:01" "" "" "SEQ" "DNA" "" "" "0000049743" "00049822" "1" "00006" "00006" "2015-09-12 18:00:01" "" "" "SEQ" "DNA" "" "" "0000049744" "00049823" "1" "00006" "00006" "2015-09-12 18:00:01" "" "" "SEQ" "DNA" "" "" "0000049745" "00049824" "1" "00006" "00006" "2015-09-12 18:00:01" "" "" "SEQ" "DNA" "" "" "0000049746" "00049825" "1" "00006" "00006" "2015-09-12 18:00:01" "" "" "SEQ" "DNA" "" "" "0000049747" "00049826" "1" "00006" "00006" "2015-09-12 18:00:01" "" "" "SEQ" "DNA" "" "" "0000049748" "00049827" "1" "00006" "00006" "2015-09-12 18:00:01" "" "" "SEQ" "DNA" "" "" "0000049749" "00049828" "1" "00006" "00006" "2015-09-12 18:00:01" "" "" "SEQ" "DNA" "" "" "0000049750" "00049829" "1" "00006" "00006" "2015-09-12 18:00:01" "" "" "SEQ" "DNA" "" "" "0000049751" "00049830" "1" "00006" "00006" "2015-09-12 18:00:01" "" "" "SEQ" "DNA" "" "" "0000049752" "00049831" "1" "00006" "00006" "2015-09-12 18:00:01" "" "" "SEQ" "DNA" "" "" "0000049753" "00049832" "1" "00006" "00006" "2015-09-12 18:00:01" "" "" "SEQ" "DNA" "" "" "0000049754" "00049833" "1" "00006" "00006" "2015-09-12 18:00:01" "" "" "SEQ" "DNA" "" "" "0000049755" "00049834" "1" "00006" "00006" "2015-09-12 18:00:01" "" "" "SEQ" "DNA" "" "" "0000049756" "00049835" "1" "00006" "00006" "2015-09-12 18:00:01" "" "" "SEQ" "DNA" "" "" "0000049757" "00049836" "1" "00006" "00006" "2015-09-12 18:00:01" "" "" "SEQ" "DNA" "" "" "0000049758" "00049837" "1" "00006" "00006" "2015-09-12 18:00:01" "" "" "SEQ" "DNA" "" "" "0000049759" "00049838" "1" "00006" "00006" "2015-09-12 18:00:01" "" "" "SEQ" "DNA" "" "" "0000065309" "00049820" "1" "00006" "00006" "2016-05-19 18:06:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000209652" "00208603" "1" "03131" "03131" "2018-12-11 21:32:33" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000209660" "00208611" "1" "03131" "03131" "2018-12-12 10:02:43" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000209661" "00208612" "1" "03131" "03131" "2018-12-12 10:10:20" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000211245" "00210169" "1" "01164" "01164" "2018-12-27 15:47:19" "" "" "SEQ-NG" "DNA" "" "" "0000228905" "00227816" "1" "01807" "01807" "2019-03-12 18:22:05" "" "" "SEQ" "DNA" "" "" "0000293075" "00291907" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293076" "00291908" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305745" "00304616" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000308333" "00307191" "1" "00534" "00006" "2020-08-05 17:01:04" "" "" "SEQ" "DNA" "" "" "0000308335" "00307193" "1" "00534" "00006" "2020-08-05 17:01:04" "" "" "SEQ" "DNA" "" "" "0000308340" "00307198" "1" "00534" "00006" "2020-08-05 17:01:04" "" "" "SEQ" "DNA" "" "" "0000391302" "00390061" "1" "00006" "00006" "2021-11-09 16:34:00" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000409967" "00408704" "1" "00006" "00006" "2022-04-25 20:58:03" "" "" "SEQ-NG" "DNA" "" "" "0000416480" "00415198" "1" "00000" "03840" "2022-08-09 21:02:14" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000416481" "00415199" "1" "00000" "03840" "2022-08-09 21:02:14" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000427485" "00426165" "1" "00006" "00006" "2022-11-28 11:02:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000429483" "00428071" "1" "00006" "00006" "2022-12-21 10:47:09" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000429639" "00428228" "1" "00006" "00006" "2022-12-24 16:09:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000429653" "00428242" "1" "00006" "00006" "2022-12-24 16:09:43" "" "" "SEQ" "DNA" "" "" "0000461039" "00459416" "1" "00006" "00006" "2024-12-27 14:26:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 43 "{{screeningid}}" "{{geneid}}" "0000016658" "PIEZO2" "0000016659" "PIEZO2" "0000016667" "PIEZO2" "0000016672" "PIEZO2" "0000016673" "PIEZO2" "0000016678" "PIEZO2" "0000016683" "PIEZO2" "0000016685" "PIEZO2" "0000049730" "PIEZO2" "0000049731" "PIEZO2" "0000049732" "PIEZO2" "0000049733" "PIEZO2" "0000049734" "PIEZO2" "0000049735" "PIEZO2" "0000049736" "PIEZO2" "0000049737" "PIEZO2" "0000049738" "PIEZO2" "0000049739" "PIEZO2" "0000049740" "PIEZO2" "0000049742" "PIEZO2" "0000049743" "PIEZO2" "0000049744" "PIEZO2" "0000049745" "PIEZO2" "0000049746" "PIEZO2" "0000049747" "PIEZO2" "0000049748" "PIEZO2" "0000049749" "PIEZO2" "0000049750" "PIEZO2" "0000049751" "PIEZO2" "0000049752" "PIEZO2" "0000049753" "PIEZO2" "0000049754" "PIEZO2" "0000049755" "PIEZO2" "0000049756" "PIEZO2" "0000049757" "PIEZO2" "0000049758" "PIEZO2" "0000049759" "PIEZO2" "0000065309" "PIEZO2" "0000308333" "PIEZO2" "0000308335" "PIEZO2" "0000308340" "PIEZO2" "0000416480" "PIEZO2" "0000416481" "PIEZO2" ## 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 = 108 "{{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}}" "0000036526" "0" "95" "18" "10784870" "10784870" "subst" "0" "00705" "PIEZO2_000014" "g.10784870T>A" "" "{PMID:Coste 2013:23487782}" "" "" "" "De novo" "?" "" "0" "" "" "g.10784872T>A" "" "pathogenic" "" "0000036527" "0" "95" "18" "10784870" "10784870" "subst" "0" "00705" "PIEZO2_000014" "g.10784870T>A" "" "{PMID:Coste 2013:23487782}" "" "" "" "De novo" "?" "" "0" "" "" "g.10784872T>A" "" "pathogenic" "" "0000036537" "0" "95" "18" "10671606" "10671608" "del" "0" "00705" "PIEZO2_000015" "g.10671606_10671608del" "" "{PMID:Coste 2013:23487782}" "" "" "" "De novo" "?" "" "0" "" "" "g.10671609_10671611del" "" "pathogenic" "" "0000036542" "21" "70" "18" "10671726" "10671726" "subst" "0" "00705" "PIEZO2_000001" "g.10671726C>T" "" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "" "" "" "Germline" "?" "" "0" "" "" "g.10671729C>T" "" "likely pathogenic" "" "0000036543" "0" "70" "18" "10671539" "10671546" "del" "0" "00705" "PIEZO2_000002" "g.10671539_10671546del" "" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "" "8238_8245del8" "" "De novo" "?" "" "0" "" "" "g.10671542_10671549del" "" "likely pathogenic" "" "0000036551" "0" "70" "18" "10671726" "10671726" "subst" "0" "00705" "PIEZO2_000001" "g.10671726C>T" "" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "" "" "" "De novo" "?" "" "0" "" "" "g.10671729C>T" "" "likely pathogenic" "" "0000036558" "1" "70" "18" "10671630" "10671630" "subst" "0" "00705" "PIEZO2_000003" "g.10671630C>A" "" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "" "" "" "Germline" "yes" "" "0" "" "" "g.10671633C>A" "" "likely pathogenic" "" "0000036563" "1" "70" "18" "10671606" "10671608" "del" "0" "00705" "PIEZO2_000004" "g.10671606_10671608del" "" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "" "8181_8183delAGA" "" "Germline" "yes" "" "0" "" "" "g.10671609_10671611del" "" "likely pathogenic" "" "0000078616" "0" "70" "18" "10671726" "10671726" "subst" "0" "00006" "PIEZO2_000001" "g.10671726C>T" "" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "" "" "" "De novo" "" "" "0" "" "" "g.10671729C>T" "" "likely pathogenic" "" "0000078617" "0" "70" "18" "10671726" "10671726" "subst" "0" "00006" "PIEZO2_000001" "g.10671726C>T" "" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "" "" "" "De novo" "" "" "0" "" "" "g.10671729C>T" "" "likely pathogenic" "" "0000078618" "0" "70" "18" "10671726" "10671726" "subst" "0" "00006" "PIEZO2_000001" "g.10671726C>T" "" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "" "" "" "De novo" "" "" "0" "" "" "g.10671729C>T" "" "likely pathogenic" "" "0000078619" "1" "70" "18" "10671726" "10671726" "subst" "0" "00006" "PIEZO2_000001" "g.10671726C>T" "" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "" "" "" "Germline" "yes" "" "0" "" "" "g.10671729C>T" "" "likely pathogenic" "" "0000078620" "0" "70" "18" "10671726" "10671726" "subst" "0" "00006" "PIEZO2_000001" "g.10671726C>T" "" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "" "" "" "Unknown" "" "" "0" "" "" "g.10671729C>T" "" "likely pathogenic" "" "0000078621" "0" "70" "18" "10671726" "10671726" "subst" "0" "00006" "PIEZO2_000001" "g.10671726C>T" "" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "" "" "" "De novo" "" "" "0" "" "" "g.10671729C>T" "" "likely pathogenic" "" "0000078622" "1" "70" "18" "10671726" "10671726" "subst" "0" "00006" "PIEZO2_000001" "g.10671726C>T" "" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "" "" "" "Germline" "yes" "" "0" "" "" "g.10671729C>T" "" "likely pathogenic" "" "0000078623" "1" "70" "18" "10671606" "10671608" "del" "0" "00705" "PIEZO2_000004" "g.10671606_10671608del" "" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "" "8181_8183delAGA" "" "Germline" "yes" "" "0" "" "" "g.10671609_10671611del" "" "likely pathogenic" "" "0000078624" "1" "70" "18" "10671630" "10671630" "subst" "0" "00705" "PIEZO2_000003" "g.10671630C>A" "" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "" "" "" "Germline" "yes" "" "0" "" "" "g.10671633C>A" "" "likely pathogenic" "" "0000078625" "1" "70" "18" "10671606" "10671608" "del" "0" "00705" "PIEZO2_000004" "g.10671606_10671608del" "" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "" "8181_8183delAGA" "" "Germline" "yes" "" "0" "" "" "g.10671609_10671611del" "" "likely pathogenic" "" "0000078626" "1" "70" "18" "10671606" "10671608" "del" "0" "00705" "PIEZO2_000004" "g.10671606_10671608del" "" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "" "8181_8183delAGA" "" "Germline" "yes" "" "0" "" "" "g.10671609_10671611del" "" "likely pathogenic" "" "0000078627" "1" "70" "18" "10671606" "10671608" "del" "0" "00705" "PIEZO2_000004" "g.10671606_10671608del" "" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "" "8181_8183delAGA" "" "Germline" "yes" "" "0" "" "" "g.10671609_10671611del" "" "likely pathogenic" "" "0000078628" "1" "70" "18" "10671606" "10671608" "del" "0" "00705" "PIEZO2_000004" "g.10671606_10671608del" "" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "" "8181_8183delAGA" "" "Germline" "yes" "" "0" "" "" "g.10671609_10671611del" "" "likely pathogenic" "" "0000078629" "0" "70" "18" "10671726" "10671726" "subst" "0" "00006" "PIEZO2_000001" "g.10671726C>T" "" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "" "" "" "Unknown" "" "" "0" "" "" "g.10671729C>T" "" "likely pathogenic" "" "0000078630" "0" "70" "18" "10671726" "10671726" "subst" "0" "00006" "PIEZO2_000001" "g.10671726C>T" "" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "" "" "" "De novo" "" "" "0" "" "" "g.10671729C>T" "" "likely pathogenic" "" "0000078631" "11" "70" "18" "10671606" "10671608" "del" "0" "00705" "PIEZO2_000004" "g.10671606_10671608del" "" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "" "8181_8183delAGA" "father mosaic" "De novo" "" "" "0" "" "" "g.10671609_10671611del" "" "likely pathogenic" "" "0000078632" "0" "70" "18" "10671606" "10671608" "del" "0" "00705" "PIEZO2_000004" "g.10671606_10671608del" "" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "" "8181_8183delAGA" "" "De novo" "" "" "0" "" "" "g.10671609_10671611del" "" "likely pathogenic" "" "0000078633" "0" "70" "18" "10671606" "10671608" "del" "0" "00705" "PIEZO2_000004" "g.10671606_10671608del" "" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "" "8181_8183delAGA" "" "De novo" "" "" "0" "" "" "g.10671609_10671611del" "" "likely pathogenic" "" "0000078634" "1" "70" "18" "10671606" "10671608" "del" "0" "00705" "PIEZO2_000004" "g.10671606_10671608del" "" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "" "8181_8183delAGA" "" "Germline" "yes" "" "0" "" "" "g.10671609_10671611del" "" "likely pathogenic" "" "0000078635" "0" "70" "18" "10671727" "10671727" "subst" "0" "00006" "PIEZO2_000005" "g.10671727G>A" "" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "" "" "" "De novo" "" "" "0" "" "" "g.10671730G>A" "" "likely pathogenic" "" "0000078636" "0" "70" "18" "10762975" "10762975" "subst" "0" "00006" "PIEZO2_000006" "g.10762975A>G" "" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "" "" "" "De novo" "" "" "0" "" "" "g.10762977A>G" "" "likely pathogenic" "" "0000078637" "0" "70" "18" "10671630" "10671630" "subst" "0" "00006" "PIEZO2_000007" "g.10671630C>G" "" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "" "" "" "De novo" "" "" "0" "" "" "g.10671633C>G" "" "likely pathogenic" "" "0000078638" "0" "70" "18" "10671575" "10671575" "del" "0" "00006" "PIEZO2_000008" "g.10671575del" "" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "" "8208delA" "" "De novo" "" "" "0" "" "" "g.10671578del" "" "likely pathogenic" "" "0000078639" "0" "70" "18" "10696255" "10696255" "subst" "0" "00006" "PIEZO2_000009" "g.10696255G>A" "" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "" "" "" "De novo" "" "" "0" "" "" "g.10696257G>A" "" "likely pathogenic" "" "0000078640" "0" "70" "18" "10696261" "10696261" "subst" "0" "00006" "PIEZO2_000010" "g.10696261G>A" "" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "" "" "" "De novo" "" "" "0" "" "" "g.10696263G>A" "" "likely pathogenic" "" "0000078641" "1" "70" "18" "10789112" "10789112" "subst" "0" "00006" "PIEZO2_000011" "g.10789112T>C" "" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "" "" "" "Germline" "yes" "" "0" "" "" "g.10789114T>C" "" "likely pathogenic" "" "0000078642" "1" "70" "18" "10696261" "10696261" "subst" "0" "00006" "PIEZO2_000010" "g.10696261G>A" "" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "" "" "" "Germline" "yes" "" "0" "" "" "g.10696263G>A" "" "likely pathogenic" "" "0000078643" "1" "70" "18" "10689744" "10689744" "subst" "0" "00006" "PIEZO2_000012" "g.10689744G>A" "" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "" "" "" "Germline" "yes" "" "0" "" "" "g.10689746G>A" "" "likely pathogenic" "" "0000078644" "1" "70" "18" "10789112" "10789112" "subst" "0" "00006" "PIEZO2_000011" "g.10789112T>C" "" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "" "" "" "Germline" "yes" "" "0" "" "" "g.10789114T>C" "" "likely pathogenic" "" "0000096987" "1" "70" "18" "10671568" "10671568" "subst" "0" "00006" "PIEZO2_000013" "g.10671568A>G" "" "{PMID:McMillin 2014:24726473}, {DOI:McMillin 2014:10.1016/j.ajhg.2014.03.015}" "" "" "" "Germline" "yes" "" "0" "" "" "g.10671571A>G" "" "likely pathogenic" "" "0000439839" "0" "50" "18" "10681711" "10681711" "subst" "0.130642" "03131" "PIEZO2_000054" "g.10681711C>T" "" "" "" "" "" "Germline" "yes" "rs3748428" "0" "" "" "g.10681714C>T" "" "VUS" "" "0000439840" "0" "50" "18" "10699129" "10699129" "subst" "0.0696906" "03131" "PIEZO2_000020" "g.10699129G>T" "" "" "" "" "" "Germline" "yes" "rs113682091" "0" "" "" "g.10699131G>T" "" "VUS" "" "0000439841" "0" "50" "18" "10759840" "10759840" "subst" "0.205031" "03131" "PIEZO2_000038" "g.10759840C>A" "" "" "" "" "" "Germline" "yes" "rs35033671" "0" "" "" "g.10759842C>A" "" "VUS" "" "0000439857" "0" "50" "18" "10731428" "10731428" "subst" "0.219616" "03131" "PIEZO2_000030" "g.10731428C>T" "" "" "" "" "" "Germline" "yes" "rs2865121" "0" "" "" "g.10731430C>T" "" "VUS" "" "0000439865" "0" "50" "18" "10731428" "10731428" "subst" "0.219616" "03131" "PIEZO2_000030" "g.10731428C>T" "" "" "" "" "" "Germline" "yes" "rs2865121" "0" "" "" "g.10731430C>T" "" "VUS" "" "0000442707" "0" "50" "18" "10979646" "10979646" "subst" "3.66231E-5" "01164" "PIEZO2_000055" "g.10979646C>T" "" "" "" "" "" "Germline" "" "rs879674484" "0" "" "" "g.10979648C>T" "" "VUS" "ACMG" "0000469167" "0" "90" "18" "10697852" "10697852" "subst" "0" "01807" "PIEZO2_000056" "g.10697852G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.10697854G>A" "" "pathogenic" "" "0000469168" "0" "90" "18" "10759479" "10759479" "subst" "0" "01807" "PIEZO2_000057" "g.10759479C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.10759481C>T" "" "pathogenic" "" "0000649764" "1" "10" "18" "10794753" "10794753" "subst" "0.0364583" "03575" "PIEZO2_000096" "g.10794753G>A" "80/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "80 heterozygous; {DB:CLININrs55646160}" "Germline" "" "rs55646160" "0" "" "" "g.10794755G>A" "" "benign" "" "0000649765" "1" "10" "18" "10979655" "10979655" "subst" "0.0111788" "03575" "PIEZO2_000101" "g.10979655T>G" "5/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous, no homozygous; {DB:CLININrs145948919}" "Germline" "" "rs145948919" "0" "" "" "g.10979657T>G" "" "benign" "" "0000669433" "3" "10" "18" "10794753" "10794753" "subst" "0.0364583" "03575" "PIEZO2_000096" "g.10794753G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs55646160}" "Germline" "" "rs55646160" "0" "" "" "g.10794755G>A" "" "benign" "" "0000675291" "1" "90" "18" "10689744" "10689744" "subst" "0" "00534" "PIEZO2_000012" "g.10689744G>A" "" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Germline" "" "" "0" "" "" "g.10689746G>A" "" "pathogenic (dominant)" "ACMG" "0000675293" "0" "90" "18" "10671726" "10671726" "subst" "0" "00534" "PIEZO2_000001" "g.10671726C>T" "" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.10671729C>T" "" "pathogenic" "ACMG" "0000675298" "0" "90" "18" "10671726" "10671726" "subst" "0" "00534" "PIEZO2_000001" "g.10671726C>T" "" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.10671729C>T" "" "pathogenic" "ACMG" "0000821040" "21" "50" "18" "10759507" "10759507" "subst" "0.00164164" "00006" "PIEZO2_000037" "g.10759507C>T" "" "{PMID:Kritioti 2021:34324503}" "" "" "ACMG PS3, PS4, PM2, PM3, PP4, BP4, BP6" "Germline" "" "rs73946020" "0" "" "" "g.10759509C>T" "" "VUS" "ACMG" "0000821051" "11" "50" "18" "10736618" "10736618" "subst" "3.63917E-5" "00006" "PIEZO2_000119" "g.10736618C>T" "" "{PMID:Kritioti 2021:34324503}" "" "" "ACMG S3, PS4, PM2, PP4, BP4, BP6" "Germline" "" "rs374051556" "0" "" "" "g.10736620C>T" "" "VUS" "ACMG" "0000847195" "0" "90" "18" "10759871" "10759871" "subst" "0" "00006" "PIEZO2_000120" "g.10759871G>A" "" "{PMID:Thomas 2022:34085946}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "NC_000018.10:g.10759873G>A" "" "VUS" "" "0000855191" "0" "90" "18" "10677807" "10677807" "dup" "0" "02325" "PIEZO2_000121" "g.10677807dup" "" "" "" "PIEZO2(NM_022068.4):c.7680dupT (p.T2561Yfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000855192" "0" "50" "18" "10800478" "10800478" "subst" "0.000252199" "02325" "PIEZO2_000122" "g.10800478C>T" "" "" "" "PIEZO2(NM_022068.4):c.1240-5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000872937" "0" "70" "18" "10689744" "10689744" "subst" "0" "03779" "PIEZO2_000012" "g.10689744G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs878853137" "0" "" "" "" "" "likely pathogenic" "" "0000874585" "0" "70" "18" "10857001" "10857001" "subst" "1.42841E-5" "00000" "PIEZO2_000123" "g.10857001G>A" "absent in 140 in-house exomes alleles from Mexican individuals without ocular malformations" "{PMID:Matias-Perez 2018:30181649}" "" "PIEZO2 c.701C>T, p.Ser234Leu" "heterozygous" "Germline" "yes" "" "0" "" "" "g.10857003G>A" "" "likely pathogenic" "" "0000874586" "0" "70" "18" "10857001" "10857001" "subst" "1.42841E-5" "00000" "PIEZO2_000123" "g.10857001G>A" "absent in 140 in-house exomes alleles from Mexican individuals without ocular malformations" "{PMID:Matias-Perez 2018:30181649}" "" "PIEZO2 c.701C>T, p.Ser234Leu" "heterozygous" "Germline" "yes" "" "0" "" "" "g.10857003G>A" "" "likely pathogenic" "" "0000894385" "0" "50" "18" "10699142" "10699142" "subst" "0.000626978" "02325" "PIEZO2_000124" "g.10699142C>G" "" "" "" "PIEZO2(NM_001378183.1):c.6475G>C (p.(Glu2159Gln)), PIEZO2(NM_022068.4):c.6136G>C (p.E2046Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894386" "0" "30" "18" "10742489" "10742489" "subst" "0" "02325" "PIEZO2_000125" "g.10742489T>C" "" "" "" "PIEZO2(NM_022068.4):c.4561+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000904886" "3" "70" "18" "10752834" "10752834" "del" "0" "00006" "PIEZO2_000126" "g.10752834del" "" "{PMID:Al-Kasbi 2022:36344539}" "" "" "" "Germline" "" "" "0" "" "" "g.10752836del" "" "likely pathogenic (recessive)" "" "0000909001" "21" "90" "18" "10731459" "10731459" "dup" "0" "00006" "PIEZO2_000127" "g.10731459dup" "" "{PMID:Paul 2023:36528028}, {DOI:Paul 2023:10.1016/j.ajhg.2022.11.011}" "" "4807dupA" "variant shared with unaffected mother" "Germline" "" "" "0" "" "" "g.10731461=" "" "VUS" "" "0000909224" "21" "90" "18" "10671726" "10671726" "subst" "0" "00006" "PIEZO2_000001" "g.10671726C>T" "" "{PMID:Falb 2023:34740919}, {DOI:Falb 2023:10.1136/jmedgenet-2021-108064}" "" "" "" "Germline" "" "" "0" "" "" "g.10671729C>T" "" "pathogenic (dominant)" "" "0000909238" "0" "90" "18" "10671726" "10671726" "subst" "0" "00006" "PIEZO2_000001" "g.10671726C>T" "" "{PMID:Falb 2023:34740919}, {DOI:Falb 2023:10.1136/jmedgenet-2021-108064}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10671729C>T" "" "pathogenic (dominant)" "" "0000926690" "0" "30" "18" "10699077" "10699077" "subst" "6.56685E-5" "02329" "PIEZO2_000128" "g.10699077G>A" "" "" "" "PIEZO2(NM_022068.4):c.6201C>T (p.S2067=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930914" "0" "30" "18" "10704497" "10704497" "subst" "0.000603742" "02326" "PIEZO2_000129" "g.10704497G>A" "" "" "" "PIEZO2(NM_022068.3):c.5814C>T (p.A1938=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930915" "0" "30" "18" "10773600" "10773600" "subst" "0.000965638" "02326" "PIEZO2_000130" "g.10773600C>T" "" "" "" "PIEZO2(NM_022068.3):c.2520G>A (p.P840=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982943" "0" "50" "18" "10691241" "10691241" "subst" "0" "01804" "PIEZO2_000133" "g.10691241T>C" "" "" "" "PIEZO2(NM_001378183.1):c.7331A>G (p.(Asn2444Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982944" "0" "30" "18" "10691246" "10691246" "subst" "0.00205984" "02326" "PIEZO2_000134" "g.10691246G>A" "" "" "" "PIEZO2(NM_022068.3):c.6987C>T (p.Y2329=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982945" "0" "30" "18" "10693385" "10693386" "dup" "0" "01804" "PIEZO2_000135" "g.10693385_10693386dup" "" "" "" "PIEZO2(NM_001378183.1):c.7191-1975_7191-1974dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982947" "0" "50" "18" "10698995" "10698995" "subst" "6.57357E-5" "01804" "PIEZO2_000136" "g.10698995G>A" "" "" "" "PIEZO2(NM_001378183.1):c.6622C>T (p.(Arg2208Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982948" "0" "50" "18" "10715807" "10715809" "del" "0" "01804" "PIEZO2_000137" "g.10715807_10715809del" "" "" "" "PIEZO2(NM_001378183.1):c.5099_5101del (p.(Ile1700del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982949" "0" "30" "18" "10722463" "10722463" "subst" "0" "01804" "PIEZO2_000138" "g.10722463C>T" "" "" "" "PIEZO2(NM_001378183.1):c.5030-4206G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982950" "0" "50" "18" "10752848" "10752848" "subst" "2.18908E-5" "01804" "PIEZO2_000139" "g.10752848A>G" "" "" "" "PIEZO2(NM_001378183.1):c.3953T>C (p.(Ile1318Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982951" "0" "30" "18" "10759694" "10759694" "subst" "1.42996E-5" "01804" "PIEZO2_000140" "g.10759694C>T" "" "" "" "PIEZO2(NM_001378183.1):c.3655+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982953" "0" "50" "18" "10761061" "10761061" "subst" "2.14237E-5" "01804" "PIEZO2_000141" "g.10761061G>A" "" "" "" "PIEZO2(NM_001378183.1):c.3298C>T (p.(Arg1100Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982954" "0" "30" "18" "10762911" "10762911" "subst" "0.000195256" "01804" "PIEZO2_000142" "g.10762911G>A" "" "" "" "PIEZO2(NM_001378183.1):c.3123+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982955" "0" "30" "18" "10856653" "10856653" "del" "0" "01804" "PIEZO2_000143" "g.10856653del" "" "" "" "PIEZO2(NM_001378183.1):c.703+348del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982956" "0" "50" "18" "10857097" "10857097" "subst" "0.000127307" "01804" "PIEZO2_000144" "g.10857097C>A" "" "" "" "PIEZO2(NM_001378183.1):c.605G>T (p.(Arg202Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982957" "0" "30" "18" "10890266" "10890266" "subst" "0" "01804" "PIEZO2_000145" "g.10890266T>A" "" "" "" "PIEZO2(NM_001378183.1):c.330-18853A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003906" "0" "30" "18" "10677793" "10677793" "subst" "1.23748E-5" "01804" "PIEZO2_000146" "g.10677793T>C" "" "" "" "PIEZO2(NM_022068.2):c.7693A>G (p.(Ile2565Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003907" "0" "50" "18" "10691299" "10691299" "subst" "0" "01804" "PIEZO2_000147" "g.10691299A>G" "" "" "" "PIEZO2(NM_022068.2):c.6934T>C (p.(Cys2312Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003908" "0" "50" "18" "10696466" "10696466" "subst" "2.84262E-5" "01804" "PIEZO2_000148" "g.10696466G>C" "" "" "" "PIEZO2(NM_022068.2):c.6560C>G (p.(Thr2187Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003909" "0" "30" "18" "10699105" "10699105" "subst" "1.45862E-5" "01804" "PIEZO2_000149" "g.10699105A>G" "" "" "" "PIEZO2(NM_022068.2):c.6173T>C (p.(Leu2058Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003910" "0" "50" "18" "10702036" "10702036" "subst" "2.9259E-5" "01804" "PIEZO2_000150" "g.10702036T>C" "" "" "" "PIEZO2(NM_022068.2):c.6053A>G (p.(Tyr2018Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003911" "0" "50" "18" "10704555" "10704555" "subst" "0" "01804" "PIEZO2_000151" "g.10704555A>G" "" "" "" "PIEZO2(NM_022068.2):c.5756T>C (p.(Val1919Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003912" "0" "30" "18" "10705730" "10705730" "subst" "0" "01804" "PIEZO2_000152" "g.10705730C>T" "" "" "" "PIEZO2(NM_022068.2):c.5264G>A (p.(Cys1755Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003913" "0" "30" "18" "10714829" "10714829" "subst" "3.63901E-5" "01804" "PIEZO2_000153" "g.10714829C>T" "" "" "" "PIEZO2(NM_022068.2):c.5182G>A (p.(Gly1728Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003914" "0" "30" "18" "10731413" "10731413" "subst" "1.48131E-5" "01804" "PIEZO2_000154" "g.10731413G>A" "" "" "" "PIEZO2(NM_022068.2):c.4847C>T (p.(Ser1616Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003915" "0" "30" "18" "10731449" "10731449" "subst" "7.32687E-6" "01804" "PIEZO2_000155" "g.10731449G>C" "" "" "" "PIEZO2(NM_022068.2):c.4811C>G (p.(Ser1604Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003916" "0" "50" "18" "10736683" "10736683" "subst" "0" "01804" "PIEZO2_000156" "g.10736683C>G" "" "" "" "PIEZO2(NM_022068.2):c.4659G>C (p.(Leu1553Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003917" "0" "50" "18" "10750155" "10750155" "subst" "1.45694E-5" "01804" "PIEZO2_000157" "g.10750155C>T" "" "" "" "PIEZO2(NM_022068.2):c.4123G>A (p.(Val1375Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003918" "0" "50" "18" "10760989" "10760989" "subst" "7.14133E-6" "01804" "PIEZO2_000158" "g.10760989T>C" "" "" "" "PIEZO2(NM_022068.2):c.3295A>G (p.(Thr1099Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003919" "0" "30" "18" "10761042" "10761042" "subst" "2.14237E-5" "01804" "PIEZO2_000159" "g.10761042C>T" "" "" "" "PIEZO2(NM_022068.2):c.3242G>A (p.(Arg1081Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003920" "0" "30" "18" "10789283" "10789283" "subst" "7.24869E-6" "01804" "PIEZO2_000160" "g.10789283T>C" "" "" "" "PIEZO2(NM_022068.2):c.1963A>G (p.(Arg655Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003921" "0" "30" "18" "10803955" "10803955" "subst" "0" "01804" "PIEZO2_000161" "g.10803955A>G" "" "" "" "PIEZO2(NM_022068.2):c.1118T>C (p.(Leu373Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003922" "0" "50" "18" "10807177" "10807177" "subst" "7.13806E-6" "01804" "PIEZO2_000162" "g.10807177G>A" "" "" "" "PIEZO2(NM_001378183.1):c.1013C>T (p.(Pro338Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001020105" "3" "10" "18" "10741080" "10741080" "subst" "1.46368E-5" "00006" "PIEZO2_000163" "g.10741080C>T" "" "{PMID:Bayam 2024:39609633}" "" "" "" "Germline" "" "" "0" "" "" "g.10741082C>T" "" "benign" "" "0001042324" "0" "50" "18" "10691323" "10691323" "subst" "0" "01804" "PIEZO2_000164" "g.10691323C>A" "" "" "" "PIEZO2(NM_001378183.1):c.7249G>T (p.(Gly2417Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042325" "0" "30" "18" "10699142" "10699142" "subst" "0.000626978" "01804" "PIEZO2_000124" "g.10699142C>G" "" "" "" "PIEZO2(NM_001378183.1):c.6475G>C (p.(Glu2159Gln)), PIEZO2(NM_022068.4):c.6136G>C (p.E2046Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042326" "0" "50" "18" "10702028" "10702028" "subst" "0" "01804" "PIEZO2_000165" "g.10702028T>A" "" "" "" "PIEZO2(NM_001378183.1):c.6400A>T (p.(Ile2134Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042327" "0" "50" "18" "10748526" "10748526" "subst" "0" "01804" "PIEZO2_000166" "g.10748526C>T" "" "" "" "PIEZO2(NM_001378183.1):c.4367G>A (p.(Ser1456Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042328" "0" "30" "18" "10753423" "10753423" "subst" "0" "01804" "PIEZO2_000167" "g.10753423T>G" "" "" "" "PIEZO2(NM_001378183.1):c.3924-546A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042329" "0" "30" "18" "10758097" "10758097" "subst" "0.00110042" "01804" "PIEZO2_000168" "g.10758097G>C" "" "" "" "PIEZO2(NM_001378183.1):c.3793C>G (p.(Arg1265Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042331" "0" "30" "18" "10789371" "10789371" "subst" "0" "01804" "PIEZO2_000169" "g.10789371T>G" "" "" "" "PIEZO2(NM_001378183.1):c.1883-8A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042333" "0" "30" "18" "11131471" "11131471" "subst" "0" "01804" "PIEZO2_000170" "g.11131471A>G" "" "" "" "PIEZO2(NM_001378183.1):c.64+17053T>C" "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 PIEZO2 ## Count = 108 "{{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}}" "0000036526" "00025780" "90" "2404" "0" "2404" "0" "c.2404A>T" "r.(?)" "p.(Ile802Phe)" "" "0000036527" "00025780" "90" "2404" "0" "2404" "0" "c.2404A>T" "r.(?)" "p.(Ile802Phe)" "" "0000036537" "00025780" "90" "8520" "0" "8522" "0" "c.8520_8522del" "r.(?)" "p.(Glu2840del)" "" "0000036542" "00025780" "70" "8396" "0" "8396" "0" "c.8396G>A" "r.(?)" "p.(Arg2799His)" "" "0000036543" "00025780" "70" "8577" "0" "8584" "0" "c.8577_8584del" "r.(?)" "p.(Trp2859Ter)" "" "0000036551" "00025780" "70" "8396" "0" "8396" "0" "c.8396G>A" "r.(?)" "p.(Arg2799His)" "" "0000036558" "00025780" "70" "8492" "0" "8492" "0" "c.8492G>T" "r.(?)" "p.(Arg2831Leu)" "" "0000036563" "00025780" "70" "8520" "0" "8522" "0" "c.8520_8522del" "r.(?)" "p.(Glu2840del)" "" "0000078616" "00025780" "70" "8396" "0" "8396" "0" "c.8396G>A" "r.(?)" "p.(Arg2799His)" "" "0000078617" "00025780" "70" "8396" "0" "8396" "0" "c.8396G>A" "r.(?)" "p.(Arg2799His)" "" "0000078618" "00025780" "70" "8396" "0" "8396" "0" "c.8396G>A" "r.(?)" "p.(Arg2799His)" "" "0000078619" "00025780" "70" "8396" "0" "8396" "0" "c.8396G>A" "r.(?)" "p.(Arg2799His)" "" "0000078620" "00025780" "70" "8396" "0" "8396" "0" "c.8396G>A" "r.(?)" "p.(Arg2799His)" "" "0000078621" "00025780" "70" "8396" "0" "8396" "0" "c.8396G>A" "r.(?)" "p.(Arg2799His)" "" "0000078622" "00025780" "70" "8396" "0" "8396" "0" "c.8396G>A" "r.(?)" "p.(Arg2799His)" "" "0000078623" "00025780" "70" "8520" "0" "8522" "0" "c.8520_8522del" "r.(?)" "p.(Glu2840del)" "" "0000078624" "00025780" "70" "8492" "0" "8492" "0" "c.8492G>T" "r.(?)" "p.(Arg2831Leu)" "" "0000078625" "00025780" "70" "8520" "0" "8522" "0" "c.8520_8522del" "r.(?)" "p.(Glu2840del)" "" "0000078626" "00025780" "70" "8520" "0" "8522" "0" "c.8520_8522del" "r.(?)" "p.(Glu2840del)" "" "0000078627" "00025780" "70" "8520" "0" "8522" "0" "c.8520_8522del" "r.(?)" "p.(Glu2840del)" "" "0000078628" "00025780" "70" "8520" "0" "8522" "0" "c.8520_8522del" "r.(?)" "p.(Glu2840del)" "" "0000078629" "00025780" "70" "8396" "0" "8396" "0" "c.8396G>A" "r.(?)" "p.(Arg2799His)" "" "0000078630" "00025780" "70" "8396" "0" "8396" "0" "c.8396G>A" "r.(?)" "p.(Arg2799His)" "" "0000078631" "00025780" "70" "8520" "0" "8522" "0" "c.8520_8522del" "r.(?)" "p.(Glu2840del)" "" "0000078632" "00025780" "70" "8520" "0" "8522" "0" "c.8520_8522del" "r.(?)" "p.(Glu2840del)" "" "0000078633" "00025780" "70" "8520" "0" "8522" "0" "c.8520_8522del" "r.(?)" "p.(Glu2840del)" "" "0000078634" "00025780" "70" "8520" "0" "8522" "0" "c.8520_8522del" "r.(?)" "p.(Glu2840del)" "" "0000078635" "00025780" "70" "8395" "0" "8395" "0" "c.8395C>T" "r.(?)" "p.(Arg2799Cys)" "" "0000078636" "00025780" "70" "3068" "0" "3068" "0" "c.3068T>C" "r.(?)" "p.(Met1023Thr)" "" "0000078637" "00025780" "70" "8492" "0" "8492" "0" "c.8492G>C" "r.(?)" "p.(Arg2831Pro)" "" "0000078638" "00025780" "70" "8547" "0" "8547" "0" "c.8547del" "r.(?)" "p.(Tyr2850IlefsTer7)" "" "0000078639" "00025780" "70" "7007" "0" "7007" "0" "c.7007C>T" "r.(?)" "p.(Ser2336Leu)" "" "0000078640" "00025780" "70" "7001" "0" "7001" "0" "c.7001C>T" "r.(?)" "p.(Thr2334Ile)" "" "0000078641" "00025780" "70" "2134" "0" "2134" "0" "c.2134A>G" "r.(?)" "p.(Met712Val)" "" "0000078642" "00025780" "70" "7001" "0" "7001" "0" "c.7001C>T" "r.(?)" "p.(Thr2334Ile)" "" "0000078643" "00025780" "70" "7406" "0" "7406" "0" "c.7406C>T" "r.(?)" "p.(Thr2469Met)" "" "0000078644" "00025780" "70" "2134" "0" "2134" "0" "c.2134A>G" "r.(?)" "p.(Met712Val)" "" "0000096987" "00025780" "70" "8554" "0" "8554" "0" "c.8554T>C" "r.(?)" "p.(Ser2852Pro)" "" "0000439839" "00025780" "50" "7726" "0" "7726" "0" "c.7726G>A" "r.(?)" "p.(Val2576Ile)" "" "0000439840" "00025780" "50" "6488" "0" "6488" "0" "c.6488C>A" "r.(?)" "p.(Ala2163Asp)" "" "0000439841" "00025780" "50" "3518" "0" "3518" "0" "c.3518G>T" "r.(?)" "p.(Cys1173Phe)" "" "0000439857" "00025780" "50" "5006" "0" "5006" "0" "c.5006G>A" "r.(?)" "p.(Arg1669Gln)" "" "0000439865" "00025780" "50" "5006" "0" "5006" "0" "c.5006G>A" "r.(?)" "p.(Arg1669Gln)" "" "0000442707" "00025780" "50" "173" "0" "173" "0" "c.173G>A" "r.(?)" "p.(Arg58Gln)" "" "0000469167" "00025780" "90" "6721" "0" "6721" "0" "c.6721C>T" "r.(?)" "p.(Gln2241Ter)" "" "0000469168" "00025780" "90" "3757" "1" "3757" "1" "c.3757+1G>A" "r.spl" "p.?" "" "0000649764" "00025780" "10" "1758" "17" "1758" "17" "c.1758+17C>T" "r.(=)" "p.?" "" "0000649765" "00025780" "10" "164" "0" "164" "0" "c.164A>C" "r.(?)" "p.(His55Pro)" "" "0000669433" "00025780" "10" "1758" "17" "1758" "17" "c.1758+17C>T" "r.(=)" "p.?" "" "0000675291" "00025780" "90" "7406" "0" "7406" "0" "c.7406C>T" "r.(?)" "p.(Thr2469Met)" "" "0000675293" "00025780" "90" "8396" "0" "8396" "0" "c.8396G>A" "r.(?)" "p.(Arg2799His)" "" "0000675298" "00025780" "90" "8396" "0" "8396" "0" "c.8396G>A" "r.(?)" "p.(Arg2799His)" "" "0000821040" "00025780" "50" "3730" "0" "3730" "0" "c.3730G>A" "r.(?)" "p.(Val1244Met)" "" "0000821051" "00025780" "50" "4799" "0" "4799" "0" "c.4799G>A" "r.(?)" "p.(Arg1600Gln)" "" "0000847195" "00025780" "90" "3487" "0" "3487" "0" "c.3487C>T" "r.(?)" "p.(Arg1163Ter)" "" "0000855191" "00025780" "90" "8019" "0" "8019" "0" "c.8019dup" "r.(?)" "p.(Thr2674Tyrfs*7)" "" "0000855192" "00025780" "50" "1240" "-5" "1240" "-5" "c.1240-5G>A" "r.spl?" "p.?" "" "0000872937" "00025780" "70" "7406" "0" "7406" "0" "c.7406C>T" "r.(?)" "p.(Thr2469Met)" "" "0000874585" "00025780" "70" "701" "0" "701" "0" "c.701C>T" "r.(?)" "p.(Ser234Leu)" "" "0000874586" "00025780" "70" "701" "0" "701" "0" "c.701C>T" "r.(?)" "p.(Ser234Leu)" "" "0000894385" "00025780" "50" "6475" "0" "6475" "0" "c.6475G>C" "r.(?)" "p.(Glu2159Gln)" "" "0000894386" "00025780" "30" "4636" "3" "4636" "3" "c.4636+3A>G" "r.spl?" "p.?" "" "0000904886" "00025780" "70" "3968" "0" "3968" "0" "c.3968del" "r.(?)" "p.(Phe1323SerfsTer39)" "" "0000909001" "00025780" "90" "4981" "0" "4981" "0" "c.4981dup" "r.(?)" "p.(Arg1661LysfsTer27)" "" "0000909224" "00025780" "90" "8057" "0" "8057" "0" "c.8057G>A" "r.(?)" "p.(Arg2686His)" "" "0000909238" "00025780" "90" "8057" "0" "8057" "0" "c.8057G>A" "r.(?)" "p.(Arg2686His)" "" "0000926690" "00025780" "30" "6540" "0" "6540" "0" "c.6540C>T" "r.(?)" "p.(Ser2180=)" "" "0000930914" "00025780" "30" "6153" "0" "6153" "0" "c.6153C>T" "r.(?)" "p.(Ala2051=)" "" "0000930915" "00025780" "30" "2595" "0" "2595" "0" "c.2595G>A" "r.(?)" "p.(Pro865=)" "" "0000982943" "00025780" "50" "7331" "0" "7331" "0" "c.7331A>G" "r.(?)" "p.(Asn2444Ser)" "" "0000982944" "00025780" "30" "7326" "0" "7326" "0" "c.7326C>T" "r.(?)" "p.(Tyr2442=)" "" "0000982945" "00025780" "30" "7191" "-1975" "7191" "-1974" "c.7191-1975_7191-1974dup" "r.(=)" "p.(=)" "" "0000982947" "00025780" "50" "6622" "0" "6622" "0" "c.6622C>T" "r.(?)" "p.(Arg2208Trp)" "" "0000982948" "00025780" "50" "5099" "0" "5101" "0" "c.5099_5101del" "r.(?)" "p.(Ile1700del)" "" "0000982949" "00025780" "30" "5030" "-4206" "5030" "-4206" "c.5030-4206G>A" "r.(=)" "p.(=)" "" "0000982950" "00025780" "50" "3953" "0" "3953" "0" "c.3953T>C" "r.(?)" "p.(Ile1318Thr)" "" "0000982951" "00025780" "30" "3655" "9" "3655" "9" "c.3655+9G>A" "r.(=)" "p.(=)" "" "0000982953" "00025780" "50" "3298" "0" "3298" "0" "c.3298C>T" "r.(?)" "p.(Arg1100Cys)" "" "0000982954" "00025780" "30" "3123" "9" "3123" "9" "c.3123+9C>T" "r.(=)" "p.(=)" "" "0000982955" "00025780" "30" "703" "348" "703" "348" "c.703+348del" "r.(=)" "p.(=)" "" "0000982956" "00025780" "50" "605" "0" "605" "0" "c.605G>T" "r.(?)" "p.(Arg202Leu)" "" "0000982957" "00025780" "30" "330" "-18853" "330" "-18853" "c.330-18853A>T" "r.(=)" "p.(=)" "" "0001003906" "00025780" "30" "8032" "0" "8032" "0" "c.8032A>G" "r.(?)" "p.(Ile2678Val)" "" "0001003907" "00025780" "50" "7273" "0" "7273" "0" "c.7273T>C" "r.(?)" "p.(Cys2425Arg)" "" "0001003908" "00025780" "50" "6899" "0" "6899" "0" "c.6899C>G" "r.(?)" "p.(Thr2300Ser)" "" "0001003909" "00025780" "30" "6512" "0" "6512" "0" "c.6512T>C" "r.(?)" "p.(Leu2171Pro)" "" "0001003910" "00025780" "50" "6392" "0" "6392" "0" "c.6392A>G" "r.(?)" "p.(Tyr2131Cys)" "" "0001003911" "00025780" "50" "6095" "0" "6095" "0" "c.6095T>C" "r.(?)" "p.(Val2032Ala)" "" "0001003912" "00025780" "30" "5603" "0" "5603" "0" "c.5603G>A" "r.(?)" "p.(Cys1868Tyr)" "" "0001003913" "00025780" "30" "5356" "0" "5356" "0" "c.5356G>A" "r.(?)" "p.(Gly1786Arg)" "" "0001003914" "00025780" "30" "5021" "0" "5021" "0" "c.5021C>T" "r.(?)" "p.(Ser1674Phe)" "" "0001003915" "00025780" "30" "4985" "0" "4985" "0" "c.4985C>G" "r.(?)" "p.(Ser1662Cys)" "" "0001003916" "00025780" "50" "4734" "0" "4734" "0" "c.4734G>C" "r.(?)" "p.(Leu1578Phe)" "" "0001003917" "00025780" "50" "4198" "0" "4198" "0" "c.4198G>A" "r.(?)" "p.(Val1400Met)" "" "0001003918" "00025780" "50" "3370" "0" "3370" "0" "c.3370A>G" "r.(?)" "p.(Thr1124Ala)" "" "0001003919" "00025780" "30" "3317" "0" "3317" "0" "c.3317G>A" "r.(?)" "p.(Arg1106Gln)" "" "0001003920" "00025780" "30" "1963" "0" "1963" "0" "c.1963A>G" "r.(?)" "p.(Arg655Gly)" "" "0001003921" "00025780" "30" "1118" "0" "1118" "0" "c.1118T>C" "r.(?)" "p.(Leu373Pro)" "" "0001003922" "00025780" "50" "1013" "0" "1013" "0" "c.1013C>T" "r.(?)" "p.(Pro338Leu)" "" "0001020105" "00025780" "10" "4657" "0" "4657" "0" "c.4657G>A" "r.(?)" "p.(Ala1553Thr)" "" "0001042324" "00025780" "50" "7249" "0" "7249" "0" "c.7249G>T" "r.(?)" "p.(Gly2417Trp)" "" "0001042325" "00025780" "30" "6475" "0" "6475" "0" "c.6475G>C" "r.(?)" "p.(Glu2159Gln)" "" "0001042326" "00025780" "50" "6400" "0" "6400" "0" "c.6400A>T" "r.(?)" "p.(Ile2134Phe)" "" "0001042327" "00025780" "50" "4367" "0" "4367" "0" "c.4367G>A" "r.(?)" "p.(Ser1456Asn)" "" "0001042328" "00025780" "30" "3924" "-546" "3924" "-546" "c.3924-546A>C" "r.(=)" "p.(=)" "" "0001042329" "00025780" "30" "3793" "0" "3793" "0" "c.3793C>G" "r.(?)" "p.(Arg1265Gly)" "" "0001042331" "00025780" "30" "1883" "-8" "1883" "-8" "c.1883-8A>C" "r.(=)" "p.(=)" "" "0001042333" "00025780" "30" "64" "17053" "64" "17053" "c.64+17053T>C" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 62 "{{screeningid}}" "{{variantid}}" "0000016658" "0000036526" "0000016659" "0000036527" "0000016667" "0000036537" "0000016672" "0000036542" "0000016673" "0000036543" "0000016678" "0000036551" "0000016683" "0000036558" "0000016685" "0000036563" "0000049730" "0000078616" "0000049731" "0000078617" "0000049732" "0000078618" "0000049733" "0000078619" "0000049734" "0000078620" "0000049735" "0000078621" "0000049736" "0000078622" "0000049737" "0000078644" "0000049738" "0000078643" "0000049739" "0000078623" "0000049740" "0000078624" "0000049742" "0000078625" "0000049743" "0000078642" "0000049744" "0000078626" "0000049745" "0000078627" "0000049746" "0000078628" "0000049747" "0000078641" "0000049748" "0000078629" "0000049749" "0000078630" "0000049750" "0000078631" "0000049751" "0000078632" "0000049752" "0000078640" "0000049753" "0000078639" "0000049754" "0000078633" "0000049755" "0000078638" "0000049756" "0000078637" "0000049757" "0000078636" "0000049758" "0000078634" "0000049759" "0000078635" "0000065309" "0000096987" "0000209652" "0000439839" "0000209652" "0000439840" "0000209652" "0000439841" "0000209660" "0000439857" "0000209661" "0000439865" "0000211245" "0000442707" "0000228905" "0000469167" "0000228905" "0000469168" "0000293075" "0000649764" "0000293076" "0000649765" "0000305745" "0000669433" "0000308333" "0000675291" "0000308335" "0000675293" "0000308340" "0000675298" "0000391302" "0000821040" "0000391302" "0000821051" "0000409967" "0000847195" "0000416480" "0000874585" "0000416481" "0000874586" "0000427485" "0000904886" "0000429483" "0000909001" "0000429639" "0000909224" "0000429653" "0000909238" "0000461039" "0001020105"