### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PITX2) # 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}}" "PITX2" "paired-like homeodomain 2" "4" "q25" "unknown" "NG_007120.1" "UD_132118988275" "" "https://www.LOVD.nl/PITX2" "" "1" "9005" "5308" "601542" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "http://databases.lovd.nl/shared/refseq/PITX2_NM_000325.5_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2020-08-10 21:42:17" "00006" "2025-02-03 12:19:52" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00024018" "PITX2" "transcript variant 2" "004" "NM_153426.2" "" "NP_700475.1" "" "" "" "-1589" "1656" "954" "111563279" "111538579" "00006" "2015-02-20 20:44:04" "" "" "00025543" "PITX2" "transcript variant 3" "007" "NM_000325.5" "" "NP_000316.2" "" "" "" "-638" "1677" "975" "111544254" "111538579" "00006" "2020-08-10 20:18:23" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00296" "CTRCT" "cataract (CTRCT)" "" "" "" "" "" "00006" "2014-01-16 08:42:13" "00006" "2015-03-07 14:30:33" "01344" "ASGD4" "Anterior segment dysgenesis 4" "AD" "137600" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01547" "RIEG1" "Axenfeld-Rieger syndrome, type 1 (RIEG1)" "AD" "180500" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01548" "RDC" "dermoid of cornea, ring (RDC)" "AD" "180550" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02487" "ASGD5" "dysgenesis, anterior segment, type 5, multiple subtypes" "AD" "604229" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04203" "ATFB" "fibrillation, atrial (ATFB)" "" "" "" "" "" "00006" "2015-02-20 20:57:29" "" "" "04204" "ASD" "septal defect, atrial (ASD)" "" "" "" "" "" "00006" "2015-02-20 21:20:25" "00006" "2015-12-08 23:53:05" "04205" "VSD" "septal, ventricular defect (VSD)" "" "" "" "" "" "00006" "2015-02-20 21:46:43" "" "" "04206" "RIEG" "Axenfeld-Rieger syndrome (RIEG)" "" "" "" "" "" "00006" "2015-02-21 16:01:52" "" "" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04267" "-" "glaucoma" "" "" "" "" "" "00006" "2015-05-14 15:50:28" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "PITX2" "01344" "PITX2" "01547" "PITX2" "01548" "PITX2" "02487" ## Individuals ## Do not remove or alter this header ## ## Count = 67 "{{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}}" "00025059" "" "" "" "4" "" "01162" "{PMID:Zhao 2015:25893250}" "3-generation family, 4 affected" "" "" "China" "" "0" "" "" "" "family" "00029825" "" "" "" "1" "" "01229" "" "" "M" "" "" "" "0" "" "" "" "" "00032402" "" "" "" "1" "" "00006" "{PMID:Zuo 2013:23913021}, {DOI:Zuo 2013:10.3892/ijmm.2013.1463}" "" "" "" "China" "" "0" "" "" "Chinese, Han" "" "00032403" "" "" "" "1" "" "00006" "{PMID:Yuan 2013:23983605}, {DOI:Yuan 2013:10.7150/ijms.6809}" "" "M" "" "China" ">12y" "0" "" "" "Chinese, Han" "" "00032404" "" "" "" "1" "" "00006" "{PMID:Yuan 2013:23983605}, {DOI:Yuan 2013:10.7150/ijms.6809}" "" "F" "" "China" ">03y" "0" "" "" "Chinese, Han" "" "00032405" "" "" "" "1" "" "00006" "{PMID:Wang 2013:24083357}, {DOI:Wang 2013:10.1089/dna.2013.2185}" "3-generation family, 1 affected" "M" "no" "China" ">01y" "0" "" "" "Chinese, Han" "" "00032406" "" "" "" "4" "" "00006" "{PMID:Wang 2013:24083357}, {DOI:Wang 2013:10.1089/dna.2013.2185}" "3-generation family, 4 affecteds (2F, 2M)" "" "no" "China" "" "0" "" "" "Chinese, Han" "" "00032407" "" "" "" "4" "" "00006" "{PMID:Wang 2014:24333117}, {DOI:Wang 2014:10.1016/j.ejmg.2013.11.004}" "3-generation family, 4 affecteds (1F, 3M)" "" "" "China" "" "0" "" "" "Chinese, Han" "" "00032452" "" "" "" "1" "" "01155" "" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00032453" "" "" "" "1" "" "01239" "{PMID:Reis 2012:22569110}" "" "" "" "" "" "0" "" "" "" "" "00032454" "" "" "" "3" "" "01239" "{PMID:Reis 2012:22569110}" "family" "" "" "" "" "0" "" "" "" "" "00032455" "" "" "" "1" "" "01239" "{PMID:Reis 2012:22569110}" "child of Pat2A" "" "" "" "" "0" "" "" "" "" "00032456" "" "" "" "1" "" "01239" "{PMID:Reis 2012:22569110}" "child of Pat2A" "" "" "" "" "0" "" "" "" "" "00032457" "" "" "" "1" "" "01239" "{PMID:Reis 2012:22569110}" "" "" "" "" "" "0" "" "" "" "" "00032458" "" "" "" "2" "" "01239" "{PMID:Reis 2012:22569110}" "family" "" "" "" "" "0" "" "" "" "" "00032459" "" "" "" "1" "" "01239" "{PMID:Reis 2012:22569110}" "child of Pat4A" "" "" "" "" "0" "" "" "" "" "00032460" "" "" "" "1" "" "01239" "{PMID:Reis 2012:22569110}" "" "" "" "" "" "0" "" "" "" "" "00032461" "" "" "" "1" "" "01239" "{PMID:Reis 2012:22569110}" "" "" "" "" "" "0" "" "" "" "" "00032462" "" "" "" "1" "" "01239" "{PMID:Reis 2012:22569110}" "" "" "" "" "" "0" "" "" "" "" "00032463" "" "" "" "1" "" "01239" "{PMID:Reis 2012:22569110}" "" "" "" "" "" "0" "" "" "" "" "00032464" "" "" "" "1" "" "01239" "{PMID:Reis 2012:22569110}" "" "" "" "" "" "0" "" "" "" "" "00032465" "" "" "" "1" "" "01239" "{PMID:Reis 2012:22569110}" "" "" "" "" "" "0" "" "" "" "" "00032466" "" "" "" "1" "" "01239" "{PMID:Reis 2012:22569110}" "" "" "" "" "" "0" "" "" "" "" "00032467" "" "" "" "1" "" "00006" "{PMID:Maciolek 2006:16834779}" "2-generation family, isolated patient" "M" "" "United States" "" "0" "" "" "" "" "00032468" "" "" "" "7" "" "00006" "{PMID:Maciolek 2006:16834779}" "4-generation family, 7 affecteds (2F, 5M)" "" "" "United States" "" "0" "" "" "" "" "00032469" "" "" "" "6" "" "00006" "{PMID:Maciolek 2006:16834779}" "4-generation family, 7 affecteds (6F)" "F" "" "United States" "" "0" "" "" "" "" "00032470" "" "" "" "1" "" "01239" "{PMID:Reis 2012:22569110}" "" "" "" "" "" "0" "" "" "" "" "00032471" "" "" "" "1" "" "01239" "{PMID:Reis 2012:22569110}" "" "" "" "" "" "0" "" "" "" "" "00032472" "" "" "" "1" "" "01239" "{PMID:Reis 2012:22569110}" "" "" "" "" "" "0" "" "" "" "" "00032473" "" "" "" "1" "" "01239" "{PMID:Reis 2012:22569110}" "" "" "" "" "" "0" "" "" "" "" "00032474" "" "" "" "1" "" "01239" "{PMID:Reis 2012:22569110}" "" "" "" "" "" "0" "" "" "" "" "00032475" "" "" "" "1" "" "01239" "{PMID:Reis 2012:22569110}" "" "" "" "" "" "0" "" "" "" "" "00032476" "" "" "" "1" "" "01239" "{PMID:Reis 2012:22569110}" "" "" "" "" "" "0" "" "" "" "" "00032477" "" "" "" "1" "" "01239" "{PMID:Reis 2012:22569110}" "" "" "" "" "" "0" "" "" "" "" "00032478" "" "" "" "1" "" "01239" "{PMID:Reis 2012:22569110}" "" "" "" "" "" "0" "" "" "" "" "00032479" "" "" "" "1" "" "01239" "{PMID:Reis 2012:22569110}" "" "" "" "" "" "0" "" "" "" "" "00032480" "" "" "" "1" "" "01239" "{PMID:Reis 2012:22569110}" "" "" "" "" "" "0" "" "" "" "" "00032481" "" "" "" "1" "" "01239" "{PMID:Reis 2012:22569110}" "" "" "" "" "" "0" "" "" "" "" "00032482" "" "" "" "1" "" "01239" "{PMID:Reis 2012:22569110}" "" "" "" "" "" "0" "" "" "" "" "00132614" "" "" "" "4" "" "01155" "{PMID:Kelberman 2011:21837767}, {DOI:Kelberman 2011:10.1002/humu.21550}" "2-generation family, affected father, mother and 2 children" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "21837767-PatII1" "00132616" "" "" "00132614" "1" "" "00006" "{PMID:Kelberman 2011:21837767}, {DOI:Kelberman 2011:10.1002/humu.21550}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "21837767-PatI2" "00132799" "" "" "" "1" "" "01741" "" "" "" "" "Germany" "" "0" "" "" "" "" "00151833" "" "" "" "1" "" "01239" "Hendee et al 2017 (under review)" "" "M" "" "Serbia" "" "0" "" "" "" "" "00151834" "" "" "" "1" "" "01239" "" "" "M" "" "Serbia" "" "0" "" "" "" "" "00151835" "" "" "" "1" "" "01239" "" "" "F" "" "United States" "" "0" "" "" "" "" "00263123" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00269114" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00307333" "" "" "" "1" "" "00006" "{PMID:Mechakra 2019:30558760}" "3-generation family, 5 affected (3F, 2M)" "F;M" "" "France" "" "0" "" "" "" "family" "00336009" "" "" "" "1" "" "00000" "{PMID:Sergouniotis 2016:27628848}" "analysis 181 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00363790" "" "" "" "1" "" "00000" "{PMID:Huang 2015:26310487}" "family" "F" "" "China" "" "0" "" "" "" "G654" "00381548" "" "" "" "1" "" "01741" "" "" "" "" "" "" "" "" "" "" "" "00382922" "" "" "" "4" "" "04164" "" "" "F" "" "China" "" "" "" "" "Chinese" "" "00382923" "" "" "" "1" "" "04164" "" "" "F" "" "China" "" "" "" "" "Chinese" "" "00382924" "" "" "" "1" "" "04164" "" "" "M" "yes" "China" "" "" "" "" "Chinese" "" "00382925" "" "" "" "1" "" "04164" "" "" "F" "no" "China" "" "" "" "" "Chinese" "" "00382926" "" "" "" "1" "" "04164" "" "" "F" "yes" "China" "" "" "" "" "Chinese" "" "00382927" "" "" "" "2" "" "04164" "" "" "M" "yes" "China" "" "" "" "" "Chinese" "" "00382928" "" "" "" "2" "" "04164" "" "" "M" "yes" "China" "" "" "" "" "Chinese" "" "00382929" "" "" "" "2" "" "04164" "" "" "F" "yes" "China" "" "" "" "" "Chinese" "" "00382930" "" "" "" "1" "" "04164" "" "" "M" "" "China" "" "" "" "" "Chinese" "" "00382931" "" "" "" "2" "" "04164" "" "" "F" "yes" "China" "" "" "" "" "Chinese" "" "00382932" "" "" "" "2" "" "04164" "" "" "M" "yes" "China" "" "" "" "" "Chinese" "" "00382933" "" "" "" "1" "" "04164" "" "" "M" "yes" "China" "" "" "" "" "Chinese" "" "00382934" "" "" "" "2" "" "04164" "" "" "M" "yes" "China" "" "" "" "" "Chinese" "" "00382935" "" "" "" "1" "" "04164" "" "" "M" "yes" "China" "" "" "" "" "" "" "00385463" "" "" "" "1" "" "00000" "{PMID:Lenassi 2020:31848469}" "retrospective analysis" "F" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "14018019" "00447931" "" "" "" "1" "" "00006" "{PMID:Farris 2024:38234180}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 66 "{{individualid}}" "{{diseaseid}}" "00025059" "01547" "00029825" "01547" "00032402" "04203" "00032403" "04204" "00032404" "04204" "00032405" "04205" "00032406" "04205" "00032407" "04203" "00032452" "04206" "00032453" "01547" "00032454" "01547" "00032455" "01547" "00032456" "01547" "00032457" "01547" "00032458" "01547" "00032459" "01547" "00032460" "01547" "00032461" "01547" "00032462" "01547" "00032463" "01547" "00032464" "01547" "00032465" "01547" "00032466" "01547" "00032467" "01547" "00032468" "01547" "00032469" "01547" "00032470" "01547" "00032471" "01547" "00032472" "01547" "00032473" "01547" "00032474" "01547" "00032475" "01547" "00032476" "01547" "00032477" "01547" "00032478" "01547" "00032479" "01547" "00032480" "01547" "00032481" "01547" "00032482" "01547" "00132614" "00198" "00132616" "00198" "00132799" "04206" "00151833" "04206" "00151834" "01547" "00151835" "01547" "00269114" "00198" "00307333" "04203" "00336009" "00296" "00363790" "04267" "00381548" "01547" "00382922" "04206" "00382923" "04206" "00382924" "04206" "00382925" "04206" "00382926" "04206" "00382927" "04206" "00382928" "04206" "00382929" "04206" "00382930" "04206" "00382931" "04206" "00382932" "04206" "00382933" "04206" "00382934" "04206" "00382935" "04206" "00385463" "04214" "00447931" "04206" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00296, 01344, 01547, 01548, 02487, 04203, 04204, 04205, 04206, 04214, 04267 ## Count = 62 "{{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}}" "0000021236" "01547" "00025059" "01162" "Familial, autosomal dominant" "" "endocardial cushion defect, Axenfeld-Rieger syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000025778" "01547" "00029825" "01229" "Familial, autosomal dominant" "" "camptodactyly of the right fifth finger, clinodactyly of the left one, bilateral Simian creases,atrial and ventricular septal defects,omphalocele" "" "" "" "" "" "" "" "" "" "" "" "0000025879" "04203" "00032402" "00006" "Isolated (sporadic)" "46y" "lone atrial fibrillation, no malformations eyes/teeth/umbilicus/heart; onset 32y" "" "" "" "" "" "" "" "" "" "" "" "0000025880" "04204" "00032403" "00006" "Isolated (sporadic)" "12y" "" "" "" "" "" "" "" "" "" "" "" "" "0000025881" "04204" "00032404" "00006" "Isolated (sporadic)" "03y" "no malformations eyes/teeth/umbilicus" "" "" "" "" "" "" "" "" "" "" "" "0000025882" "04205" "00032405" "00006" "Isolated (sporadic)" "01y" "ventricular septal defect, double outlet right ventricle" "" "" "" "" "" "" "" "" "" "" "" "0000025883" "04205" "00032406" "00006" "Familial, autosomal dominant" "" "see paper; ventricular septal defect, atrial septal defect, .." "" "" "" "" "" "" "" "" "" "" "" "0000025884" "04203" "00032407" "00006" "Familial, autosomal dominant" "" "see paper; .." "" "" "" "" "" "" "" "" "" "" "" "0000025888" "01547" "00032452" "01155" "Unknown" "" "anterior segment developmental anomaly, posterior embryotoxon" "" "" "" "" "" "" "" "" "" "" "" "0000025889" "01547" "00032453" "01239" "Familial" "1y6m" "no heart defect; no hearing loss; ankyloglossia; redundant umbilical skin; umbilical hernia (HP:0001537); Axenfeld-Rieger syndrome, microcornea; microdontia, dental anomaly" "" "" "" "" "" "" "" "" "" "" "" "0000025890" "01547" "00032454" "01239" "Familial, autosomal dominant" "30y" "no heart defect; redundant umbilical skin; Axenfeld-Rieger syndrome; hypodontia" "" "" "" "" "" "" "" "" "" "" "" "0000025891" "01547" "00032455" "01239" "Familial, autosomal dominant" "30y" "no heart defect; no hearing loss; developmental delay, hypertelorism, prominent forehead; redundant umbilical skin; Axenfeld-Rieger syndrome; hypodontia" "" "" "" "" "" "" "" "" "" "" "" "0000025892" "01547" "00032456" "01239" "Familial, autosomal dominant" "30y" "no heart defect; hearing loss; omphalocele (HP:0001539); Axenfeld-Rieger syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000025893" "01547" "00032457" "01239" "Familial" "40y" "no heart defect; no hearing loss; umbilical hernia (HP:0001537); Axenfeld-Rieger syndrome; hypodontia" "" "" "" "" "" "" "" "" "" "" "" "0000025894" "01547" "00032458" "01239" "Familial, autosomal dominant" "37y" "no heart defect; no hearing loss; hypospadias; redundant umbilical skin; Axenfeld-Rieger syndrome, glaucoma, vascular loops; hypodontia" "" "" "" "" "" "" "" "" "" "" "" "0000025895" "01547" "00032459" "01239" "Familial, autosomal dominant" "37y" "no heart defect; no hearing loss; maxillary hypoplasia, small mouth, hair whorl ankyloglossia, sacral dimple; redundant umbilical skin; umbilical hernia (HP:0001537); Axenfeld-Rieger syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000025896" "01547" "00032460" "01239" "Familial" "13y" "no heart defect; no hearing loss; maxillary hypoplasia, Imperforate anus, thin upper lip; redundant umbilical skin; Axenfeld-Rieger syndrome, aniso-metropia; hypodontia, microdontia" "" "" "" "" "" "" "" "" "" "" "" "0000025897" "01547" "00032461" "01239" "Isolated (sporadic)" "3y" "no heart defect; no hearing loss; mild developmental delay, short stature, failure to thrive, abnormal head size; redundant umbilical skin; Axenfeld-Rieger syndrome; hypodontia" "" "" "" "" "" "" "" "" "" "" "" "0000025898" "01547" "00032462" "01239" "Isolated (sporadic)" "9y" "no heart defect; no hearing loss; maxillary hypoplasia, small mouth, high arched palate, hyperextensible joints; clinodactyly; narrow nails, lopped ears, prominent occiput; redundant umbilical skin; Axenfeld-Rieger syndrome; hypodontia, microdontia" "" "" "" "" "" "" "" "" "" "" "" "0000025899" "01547" "00032463" "01239" "Isolated (sporadic)" "10y" "anomalous pulmonary venous return; no hearing loss; DD, short stature, failure to thrive; redundant umbilical skin; strabismus, amblyopia; hypodontia" "" "" "" "" "" "" "" "" "" "" "" "0000025900" "01547" "00032464" "01239" "Isolated (sporadic)" "14y" "no heart defect; no hearing loss; GD, nasal bridge anomaly, high arched palate, prognathia, smooth philtrum, long thin face, posteriorly rotated ears, microcephaly; umbilical hernia (HP:0001537); Peters anomaly, nystagmus, esotropia; normal teeth" "" "" "" "" "" "" "" "" "" "" "" "0000025901" "01547" "00032465" "01239" "Isolated (sporadic)" "2y" "no heart defect; no hearing loss; Hypertelorism, Meckel\'s diverticulum; umbilical hernia (HP:0001537); Axenfeld-Rieger syndrome; hypodontia, delayed eruption" "" "" "" "" "" "" "" "" "" "" "" "0000025902" "01547" "00032466" "01239" "Isolated (sporadic)" "16y" "no heart defect; no hearing loss; maxillary hypoplasia, microcephaly, thin upper lip, short philtrum, mild developmental delay, asymmetric ocular position; redundant umbilical skin; Axenfeld-Rieger syndrome, myopia; hypodontia, microdontia" "" "" "" "" "" "" "" "" "" "" "" "0000025903" "01547" "00032467" "00006" "Isolated (sporadic)" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "0000025904" "01547" "00032468" "00006" "Familial, autosomal dominant" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "0000025905" "01547" "00032469" "00006" "Familial, autosomal dominant" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "0000025906" "01547" "00032470" "01239" "Familial" "43y" "no heart defect; no hearing loss; abnormality umbilicus (HP:0001551); Axenfeld-Rieger syndrome; dental anomaly" "" "" "" "" "" "" "" "" "" "" "" "0000025907" "01547" "00032471" "01239" "Isolated (sporadic)" "3y" "no heart defect; no hearing loss; maxillary hypoplasia, prognathia, Meckel\'s diverticulum; redundant umbilical skin; Axenfeld-Rieger syndrome, microcornea; hypodontia, microdontia" "" "" "" "" "" "" "" "" "" "" "" "0000025908" "01547" "00032472" "01239" "Isolated (sporadic)" "32y" "no heart defect; no hearing loss; Prognathia, Meckel\'s diverticulum, broad forehead; umbilical hernia (HP:0001537); Axenfeld-Rieger syndrome, glaucoma; hypodontia" "" "" "" "" "" "" "" "" "" "" "" "0000025909" "01547" "00032473" "01239" "Isolated (sporadic)" "<1y" "no heart defect; no hearing loss; redundant umbilical skin; Peters anomaly" "" "" "" "" "" "" "" "" "" "" "" "0000025910" "01547" "00032474" "01239" "Familial" "29y" "no heart defect; no hearing loss; maxillary hypoplasia; no umbilical anomalies; Axenfeld-Rieger syndrome, glaucoma; hypodontia, persistent primary teeth" "" "" "" "" "" "" "" "" "" "" "" "0000025911" "01547" "00032475" "01239" "Familial" "1y6m" "no heart defect; no hearing loss; Inguinal hernia; redundant umbilical skin; Axenfeld-Rieger syndrome, cataract, congenital glaucoma, Peters anomaly nystagmus; hypodontia" "" "" "" "" "" "" "" "" "" "" "" "0000025912" "01547" "00032476" "01239" "Isolated (sporadic)" "<1y" "no heart defect; no hearing loss; small mouth, nasal bridge anomaly, anteriorly placed anus; redundant umbilical skin; umbilical hernia (HP:0001537); Axenfeld-Rieger syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000025913" "01547" "00032477" "01239" "Isolated (sporadic)" "21y" "no heart defect; no hearing loss; maxillary hypoplasia, nasal bridge anomaly, low thyroid; redundant umbilical skin; Axenfeld-Rieger syndrome, glaucoma; hypodontia, microdontia" "" "" "" "" "" "" "" "" "" "" "" "0000025914" "01547" "00032478" "01239" "Unknown" "54y" "no heart defect; no hearing loss; micrognathia, abnormal ocular position, inguinal hernia, ulcerative colitis, diverticulitis, attention deficit hyperactivity disorder, micropenis, sleep disorder, transient ischemic attack, hypercholesterolinemia; redundant umbilical skin; umbilical hernia (HP:0001537); Axenfeld-Rieger syndrome, myopia (−12; −8), missing eye muscles (L), astigmatism; hypodontia, persistent primary teeth" "" "" "" "" "" "" "" "" "" "" "" "0000025915" "01547" "00032479" "01239" "Isolated (sporadic)" "<1y" "ventricular septal defect; hearing loss; mild developmental delay, maxillary hypoplasia, thin upper lip, high arched palate, low-set ears; redundant umbilical skin; Axenfeld-Rieger syndrome, congenital glaucoma, cataract, severe iris hypoplasia/aniridia; natal tooth" "" "" "" "" "" "" "" "" "" "" "" "0000025916" "01547" "00032480" "01239" "Isolated (sporadic)" "3y" "no heart defect; no hearing loss; maxillary hypoplasia, ridged palate; omphalocele (HP:0001539); Axenfeld-Rieger syndrome; hypodontia, microdontia" "" "" "" "" "" "" "" "" "" "" "" "0000025917" "01547" "00032481" "01239" "Familial" "65y" "no heart defect; no hearing loss;; no umbilical anomalies; Axenfeld-Rieger syndrome, glaucoma, retinal detachment; dental anomaly" "" "" "" "" "" "" "" "" "" "" "" "0000025918" "01547" "00032482" "01239" "Isolated (sporadic)" "2y" "no heart defect; no hearing loss; low hair line, developmental delay, autism, digit anomaly, thin upper lip; Axenfeld-Rieger syndrome, blue sclerae; microdontia" "" "" "" "" "" "" "" "" "" "" "" "0000105381" "00198" "00132614" "00006" "Unknown" "" "see paper; ..., complex bilateral anterior segment developmental anomalies, corneal cyst" "00y00m10d" "" "bilateral anterior segment developmental anomalies" "" "" "" "" "" "" "" "" "0000105383" "00198" "00132616" "00006" "Unknown" "" "see paper; ..., isolated posterior embryotoxon, irides heterochromia" "" "" "" "" "" "" "" "" "" "" "" "0000201562" "00198" "00263123" "01164" "Unknown" "" "Abnormal eye morphology (HP:0012372); Abnormality of nervous system physiology (HP:0012638); Migraine (HP:0002076); Iris coloboma (HP:0000612)" "" "" "" "" "" "" "" "" "" "" "" "0000206959" "00198" "00269114" "01164" "Unknown" "" "Abnormality of cardiac morphology (HP:0001627); Corneal opacity (HP:0007957); Umbilical hernia (HP:0001537)" "" "" "" "" "" "" "" "" "" "" "" "0000233127" "04203" "00307333" "00006" "Unknown" "" "see paper; ..., atrial fibrillation" "" "" "" "" "" "" "" "" "" "atrial fibrillation" "" "0000253924" "00296" "00336009" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "childhood cataract" "" "0000259137" "04267" "00363790" "00000" "Unknown" "51y" "see paper; ..." "" "" "" "" "" "" "" "" "" "primary angle‐closure glaucoma" "" "0000276778" "04206" "00382922" "04164" "Familial, autosomal dominant" "" "Iridocorneal adhesions, severe IH, corectopia, polycoria, GL,Dental abnormalities; Craniofacial abnormalities; dental anomailty; ocular abnormality; normal umbilicus" "" "02y" "" "" "" "" "" "" "RIEG" "RIEG" "" "0000276779" "04206" "00382923" "04164" "Isolated (sporadic)" "" "PE, iridocorneal adhesions, IH, polycoria, myopia; dental abnormalities; Umbilical anomalies; dental anomailty; ocular abnormality; normal umbilicus" "" "12y" "" "" "" "" "" "" "RIEG" "RIEG" "" "0000276780" "04206" "00382924" "04164" "Isolated (sporadic)" "" "PE, iridocorneal adhesions, IH, irregular pupil, GL, cataract; dental abnormalities; dental anomailty; ocular abnormality; normal umbilicus" "" "38y" "" "" "" "" "" "" "" "" "" "0000276781" "04206" "00382925" "04164" "Isolated (sporadic)" "" "Iridocorneal adhesions, severe IH, irregular pupil, GL; dental abnormalities; Craniofacial abnormalities; dental anomailty; ocular abnormality; normal umbilicus" "" "00y10m" "" "" "" "" "" "" "RIEG" "RIEG" "" "0000276782" "04206" "00382926" "04164" "Isolated (sporadic)" "" "Iridocorneal adhesions, IH, corectopia, GL, corneal opacification (OD); dental abnormalities; Craniofacial abnormalities; dental anomailty; ocular abnormality; normal umbilicus" "" "49y" "" "" "" "" "" "" "RIEG" "RIEG" "" "0000276783" "04206" "00382927" "04164" "Familial, autosomal dominant" "" "PE, iridocorneal adhesions, IH, corectopia, GL, high myopia, cataract; dental abnormalities; surgery history for umbili; Craniofacial abnormalitiesl hernia; dental anomailty; ocular abnormality; umbilical hernia" "" "17y" "" "" "" "" "" "" "RIEG" "RIEG" "" "0000276784" "04206" "00382928" "04164" "Isolated (sporadic)" "" "PE, IH, corectopia, GL; dental abnormalities; dental anomailty; ocular abnormality; normal umbilicus" "" "34y" "" "" "" "" "" "" "" "" "" "0000276785" "04206" "00382929" "04164" "Familial, autosomal dominant" "" "PE, iridocorneal adhesions, IH, corectopia, GL, cataract; dental abnormalities; dental anomailty; ocular abnormality; normal umbilicus" "" "46y" "" "" "" "" "" "" "" "" "" "0000276786" "04206" "00382930" "04164" "Isolated (sporadic)" "" "Iridocorneal adhesions, severe IH, corectopia, irregular pupil, GL; dental abnormalities; Craniofacial abnormalities; dental anomailty; ocular abnormality; normal umbilicus" "" "24y" "" "" "" "" "" "" "" "" "" "0000276787" "04206" "00382931" "04164" "Familial, autosomal dominant" "" "PE, iridocorneal adhesions, severe IH, corectopia, irregular pupil, GL, corneal opacification, high myopia; Craniofacial abnormalities; no dental anomailty; ocular abnormality; normal umbilicus" "" "05y" "" "" "" "" "" "" "" "" "" "0000276788" "04206" "00382932" "04164" "Familial, autosomal dominant" "" "PE, iridocorneal adhesions, IH, corectopia, GL, high myopia, cataract; dental abnormalities; Umbilical anomalies; dental anomailty; ocular abnormality; abnormality umbilicus" "" "64y" "" "" "" "" "" "" "" "" "" "0000276789" "04206" "00382933" "04164" "Isolated (sporadic)" "" "Iridocorneal adhesions, IH, corectopia, polycoria, GL, high myopia; dental abnormalities; Craniofacial abnormalities; surgery history for umbili;; dental anomailty; ocular abnormality; umbilical hernia" "" "12y" "" "" "" "" "" "" "" "" "" "0000276790" "04206" "00382934" "04164" "Familial, autosomal dominant" "" "PE, iridocorneal adhesions, IH, polycoria; dental abnormalities; dental anomailty; ocular abnormality; normal umbilicus" "" "24y" "" "" "" "" "" "" "" "" "" "0000276791" "04206" "00382935" "04164" "Isolated (sporadic)" "" "PE, iridocorneal adhesions, IH, corectopia, polycoria, ectropion uvea, GL, high myopia; dental abnormalities; kidney stone; dental anomailty; ocular abnormality; normal umbilicus" "" "34y" "" "" "" "" "" "" "" "" "" "0000279258" "04214" "00385463" "00000" "Familial, autosomal dominant" "" "" "<1y" "" "" "" "" "" "" "" "bilateral anterior segment dysgenesis (ASD) including congenital glaucoma" "congenital glaucoma; anterior segment dysgenesis; excess umbilical skin" "" "0000337123" "04206" "00447931" "00006" "Isolated (sporadic)" "" "see paper; ..., elevated intraocular pressure, anterior chamber abnormalities, guttata both eyes, diffuse, patchy iris atrophy both eyes, posterior embryotoxon both eyes, corectopia left eye; optic nerve cupping consistent with glaucoma right eye; declining vision right eye greater than left; significant visual field loss related to glaucoma right eye, thinning retinal nerve fiber layer both eyes, right greater than left; significant dental anomalies, oligodontia, microdontia; as child redundant periumbilical skin surgically corrected; non-dysmorphic, normal developmental trajectory, held advanced degree; normal hearing; no congenital heart disease" "" "" "" "" "" "" "" "" "RIEG1" "Axenfeld-Rieger syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 67 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000025064" "00025059" "1" "01162" "01162" "2014-12-04 08:28:07" "" "" "SEQ" "DNA" "" "" "0000029869" "00029825" "1" "01229" "01229" "2015-02-12 04:45:35" "00006" "2015-02-20 14:13:28" "SEQ" "DNA" "" "" "0000032470" "00032402" "1" "00006" "00006" "2015-02-20 21:04:54" "" "" "SEQ" "DNA" "" "" "0000032471" "00032403" "1" "00006" "00006" "2015-02-20 21:22:25" "" "" "SEQ" "DNA" "" "" "0000032472" "00032404" "1" "00006" "00006" "2015-02-20 21:30:34" "" "" "SEQ" "DNA" "" "" "0000032473" "00032405" "1" "00006" "00006" "2015-02-20 21:44:01" "" "" "SEQ" "DNA" "" "" "0000032474" "00032406" "1" "00006" "00006" "2015-02-20 21:52:00" "" "" "SEQ" "DNA" "" "" "0000032475" "00032407" "1" "00006" "00006" "2015-02-20 22:06:43" "" "" "SEQ" "DNA" "" "" "0000032520" "00032452" "1" "01155" "01155" "2011-06-01 11:31:03" "00006" "2011-06-17 19:35:22" "SEQ" "DNA" "" "" "0000032521" "00032453" "1" "01239" "01239" "2012-02-19 20:37:59" "00006" "2012-02-28 20:42:04" "SEQ" "DNA" "" "" "0000032522" "00032454" "1" "01239" "01239" "2012-02-19 20:40:48" "00006" "2012-02-28 20:41:20" "SEQ" "DNA" "" "" "0000032523" "00032455" "1" "01239" "01239" "2012-02-19 20:40:48" "00006" "2012-02-28 20:41:20" "SEQ" "DNA" "" "" "0000032524" "00032456" "1" "01239" "01239" "2012-02-19 20:40:48" "00006" "2012-02-28 20:41:20" "SEQ" "DNA" "" "" "0000032525" "00032457" "1" "01239" "01239" "2012-02-19 20:45:22" "00006" "2012-02-28 20:40:33" "SEQ" "DNA" "" "" "0000032526" "00032458" "1" "01239" "01239" "2012-02-19 20:47:51" "00006" "2012-02-28 20:39:52" "SEQ" "DNA" "" "" "0000032527" "00032459" "1" "01239" "01239" "2012-02-19 20:47:51" "00006" "2012-02-28 20:39:52" "SEQ" "DNA" "" "" "0000032528" "00032460" "1" "01239" "01239" "2012-02-19 20:50:48" "00006" "2012-02-28 17:17:47" "SEQ" "DNA" "" "" "0000032529" "00032461" "1" "01239" "01239" "2012-02-19 20:53:01" "00006" "2012-02-28 20:42:48" "SEQ" "DNA" "" "" "0000032530" "00032462" "1" "01239" "01239" "2012-02-19 20:57:03" "00006" "2012-02-28 20:38:35" "SEQ" "DNA" "" "" "0000032531" "00032463" "1" "01239" "01239" "2012-02-19 21:01:52" "00006" "2012-02-28 20:39:08" "SEQ" "DNA" "" "" "0000032532" "00032464" "1" "01239" "01239" "2012-02-19 21:06:15" "00006" "2012-02-28 20:38:35" "SEQ" "DNA" "" "" "0000032533" "00032465" "1" "01239" "01239" "2012-02-19 21:08:08" "00006" "2012-02-28 20:37:08" "SEQ" "DNA" "" "" "0000032534" "00032466" "1" "01239" "01239" "2012-02-19 21:09:58" "00006" "2012-02-28 20:36:22" "SEQ" "DNA" "" "" "0000032535" "00032467" "1" "00006" "00006" "2015-02-22 13:59:27" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000032536" "00032468" "1" "00006" "00006" "2015-02-22 13:59:27" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000032537" "00032469" "1" "00006" "00006" "2015-02-22 13:59:27" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000032538" "00032470" "1" "01239" "01239" "2012-02-19 21:11:54" "00006" "2012-02-28 17:15:53" "SEQ" "DNA" "" "" "0000032539" "00032471" "1" "01239" "01239" "2012-02-19 21:13:40" "00006" "2012-02-28 17:15:21" "SEQ" "DNA" "" "" "0000032540" "00032472" "1" "01239" "01239" "2012-02-19 21:17:49" "00006" "2012-02-28 17:14:49" "SEQ" "DNA" "" "" "0000032541" "00032473" "1" "01239" "01239" "2012-02-19 21:19:47" "00006" "2012-02-28 17:10:58" "SEQ" "DNA" "" "" "0000032542" "00032474" "1" "01239" "01239" "2012-02-19 21:21:46" "00006" "2012-02-28 17:13:36" "SEQ" "DNA" "" "" "0000032543" "00032475" "1" "01239" "01239" "2012-02-19 21:23:15" "00006" "2012-02-28 17:12:38" "SEQ" "DNA" "" "" "0000032544" "00032476" "1" "01239" "01239" "2012-02-19 21:25:08" "00006" "2012-02-20 12:51:08" "SEQ" "DNA" "" "" "0000032545" "00032477" "1" "01239" "01239" "2012-02-19 21:28:18" "" "" "arrayCNV" "DNA" "" "" "0000032546" "00032478" "1" "01239" "01239" "2012-02-19 21:33:06" "" "" "arrayCNV" "DNA" "" "" "0000032547" "00032479" "1" "01239" "01239" "2012-02-19 21:35:36" "" "" "arrayCNV" "DNA" "" "" "0000032548" "00032480" "1" "01239" "01239" "2012-02-19 21:38:19" "" "" "TaqMan" "DNA" "" "" "0000032549" "00032481" "1" "01239" "01239" "2012-02-19 21:46:17" "" "" "TaqMan" "DNA" "" "" "0000032550" "00032482" "1" "01239" "01239" "2012-02-19 21:56:13" "00006" "2013-01-05 10:05:43" "TaqMan" "DNA" "" "" "0000133447" "00132614" "1" "01155" "01155" "2011-06-01 11:15:32" "00006" "2017-10-28 17:14:15" "SEQ" "DNA" "" "" "0000133449" "00132616" "1" "00006" "00006" "2017-10-28 17:22:39" "" "" "SEQ" "DNA" "" "" "0000133633" "00132799" "1" "01741" "01741" "2017-11-09 14:21:47" "" "" "SEQ" "DNA" "" "" "0000152689" "00151833" "1" "01239" "01239" "2018-01-26 20:59:19" "" "" "PCR" "DNA" "" "" "0000152690" "00151834" "1" "01239" "01239" "2018-01-26 21:14:21" "" "" "PCR" "DNA" "" "" "0000152691" "00151835" "1" "01239" "01239" "2018-01-26 21:17:19" "" "" "PCR" "DNA" "" "" "0000264229" "00263123" "1" "01164" "01164" "2019-08-23 11:18:33" "" "" "SEQ-NG-S" "DNA" "" "" "0000270245" "00269114" "1" "01164" "01164" "2019-11-06 14:42:09" "" "" "SEQ-NG-S" "DNA" "" "" "0000308475" "00307333" "1" "00006" "00006" "2020-08-10 20:11:28" "" "" "SEQ" "DNA" "" "" "0000337239" "00336009" "1" "00000" "00006" "2021-03-10 17:05:56" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000365018" "00363790" "1" "00000" "00006" "2021-04-30 09:22:49" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000382764" "00381548" "1" "01741" "01741" "2021-09-02 09:44:39" "" "" "SEQ" "DNA" "" "" "0000384141" "00382922" "1" "04164" "04164" "2021-09-13 18:02:29" "" "" "SEQ-NG-I" "DNA" "" "" "0000384142" "00382923" "1" "04164" "04164" "2021-09-13 18:11:14" "" "" "SEQ-NG-I" "DNA" "" "" "0000384143" "00382924" "1" "04164" "04164" "2021-09-13 18:15:52" "" "" "SEQ-NG-I" "DNA" "" "" "0000384144" "00382925" "1" "04164" "04164" "2021-09-13 18:21:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000384145" "00382926" "1" "04164" "04164" "2021-09-13 18:24:34" "" "" "SEQ-NG-I" "DNA" "" "" "0000384146" "00382927" "1" "04164" "04164" "2021-09-13 18:29:59" "" "" "SEQ-NG-I" "DNA" "" "" "0000384147" "00382928" "1" "04164" "04164" "2021-09-13 18:33:54" "" "" "SEQ-NG-I" "DNA" "" "" "0000384148" "00382929" "1" "04164" "04164" "2021-09-13 18:40:07" "" "" "SEQ-NG-I" "DNA" "" "" "0000384149" "00382930" "1" "04164" "04164" "2021-09-13 18:45:12" "" "" "SEQ-NG-I" "DNA" "" "" "0000384150" "00382931" "1" "04164" "04164" "2021-09-13 18:48:40" "" "" "SEQ-NG-I" "DNA" "" "" "0000384151" "00382932" "1" "04164" "04164" "2021-09-13 18:52:27" "" "" "SEQ-NG-I" "DNA" "" "" "0000384152" "00382933" "1" "04164" "04164" "2021-09-13 18:56:02" "" "" "SEQ-NG-I" "DNA" "" "" "0000384153" "00382934" "1" "04164" "04164" "2021-09-13 18:58:43" "" "" "SEQ-NG-I" "DNA" "" "" "0000384154" "00382935" "1" "04164" "04164" "2021-09-13 19:02:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000386692" "00385463" "1" "00000" "03840" "2021-10-12 17:40:23" "" "" "SEQ-NG" "DNA" "blood" "114 genes panel tested" "0000449502" "00447931" "1" "00006" "00006" "2024-02-01 16:38:33" "" "" "arrayCGH;MLPA;PCR;SEQ;SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 67 "{{screeningid}}" "{{geneid}}" "0000025064" "PITX2" "0000029869" "PITX2" "0000032470" "PITX2" "0000032471" "PITX2" "0000032472" "PITX2" "0000032473" "PITX2" "0000032474" "PITX2" "0000032475" "PITX2" "0000032520" "PITX2" "0000032521" "PITX2" "0000032522" "PITX2" "0000032523" "PITX2" "0000032524" "PITX2" "0000032525" "PITX2" "0000032526" "PITX2" "0000032527" "PITX2" "0000032528" "PITX2" "0000032529" "PITX2" "0000032530" "PITX2" "0000032531" "PITX2" "0000032532" "PITX2" "0000032533" "PITX2" "0000032534" "PITX2" "0000032535" "PITX2" "0000032536" "PITX2" "0000032537" "PITX2" "0000032538" "PITX2" "0000032539" "PITX2" "0000032540" "PITX2" "0000032541" "PITX2" "0000032542" "PITX2" "0000032543" "PITX2" "0000032544" "PITX2" "0000032545" "PITX2" "0000032546" "PITX2" "0000032547" "PITX2" "0000032548" "PITX2" "0000032549" "PITX2" "0000032550" "PITX2" "0000133447" "FOXC1" "0000133447" "PITX2" "0000133449" "FOXC1" "0000133449" "PITX2" "0000133633" "PITX2" "0000152689" "PITX2" "0000152690" "PITX2" "0000152691" "PITX2" "0000308475" "PITX2" "0000337239" "PITX2" "0000365018" "PITX2" "0000382764" "PITX2" "0000384141" "PITX2" "0000384142" "PITX2" "0000384143" "PITX2" "0000384144" "PITX2" "0000384145" "PITX2" "0000384146" "PITX2" "0000384147" "PITX2" "0000384148" "PITX2" "0000384149" "PITX2" "0000384150" "PITX2" "0000384151" "PITX2" "0000384152" "PITX2" "0000384153" "PITX2" "0000384154" "PITX2" "0000386692" "PITX2" "0000449502" "PITX2" ## 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 = 100 "{{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}}" "0000048004" "11" "90" "4" "111539793" "111539793" "subst" "0" "01162" "PITX2_000020" "g.111539793G>A" "" "{PMID:Zhao 2015:25893250}" "" "NM_000325.5:c.463C>T (Gln155X)" "" "Germline" "yes" "" "0" "" "" "g.110618637G>A" "" "pathogenic" "" "0000055960" "0" "70" "4" "111559140" "111559141" "del" "0" "01229" "PITX2_000025" "g.111559140_111559141del" "" "" "" "-1214_-1213delAT" "" "Unknown" "" "" "0" "" "" "g.110637984_110637985del" "" "likely pathogenic" "" "0000058632" "0" "90" "4" "111542442" "111542442" "subst" "0" "00006" "PITX2_000026" "g.111542442T>C" "" "{PMID:Zuo 2013:23913021}, {DOI:Zuo 2013:10.3892/ijmm.2013.1463}" "" "NM_000325.5:c.289A>G (T97A)" "" "Unknown" "" "" "0" "" "" "g.110621286T>C" "" "pathogenic" "" "0000058633" "0" "90" "4" "111542442" "111542442" "subst" "0" "00006" "PITX2_000026" "g.111542442T>C" "" "{PMID:Zuo 2013:23913021}, {DOI:Zuo 2013:10.3892/ijmm.2013.1463}" "" "NM_000325.5:c.289A>G (T97A)" "T97A expression cloning CHO cells reduced activation (0.2) atrial natriuretic factor promoter" "In vitro (cloned)" "-" "" "0" "" "" "g.110621286T>C" "" "NA" "" "0000058634" "0" "90" "4" "111542437" "111542437" "subst" "0" "00006" "PITX2_000027" "g.111542437G>T" "" "{PMID:Yuan 2013:23983605}, {DOI:Yuan 2013:10.7150/ijms.6809}" "" "NM_000325.5:c.294C>A (H98Q)" "" "Unknown" "" "" "0" "" "" "g.110621281G>T" "" "pathogenic" "" "0000058635" "0" "90" "4" "111542437" "111542437" "subst" "0" "00006" "PITX2_000027" "g.111542437G>T" "" "{PMID:Yuan 2013:23983605}, {DOI:Yuan 2013:10.7150/ijms.6809}" "" "NM_000325.5:c.294C>A (H98Q)" "H98Q expression cloning CHO cells reduced activation (0.4) atrial natriuretic factor promoter" "In vitro (cloned)" "-" "" "0" "" "" "g.110621281G>T" "" "NA" "" "0000058636" "0" "90" "4" "111542375" "111542375" "subst" "0" "00006" "PITX2_000028" "g.111542375A>G" "" "{PMID:Yuan 2013:23983605}, {DOI:Yuan 2013:10.7150/ijms.6809}" "" "NM_000325.5:c.356T>C (M119T)" "" "Unknown" "" "" "0" "" "" "g.110621219A>G" "" "pathogenic" "" "0000058637" "0" "90" "4" "111542375" "111542375" "subst" "0" "00006" "PITX2_000028" "g.111542375A>G" "" "{PMID:Yuan 2013:23983605}, {DOI:Yuan 2013:10.7150/ijms.6809}" "" "NM_000325.5:c.356T>C (M119T)" "T97A expression cloning CHO cells reduced activation (0.2) atrial natriuretic factor promoter" "In vitro (cloned)" "-" "" "0" "" "" "g.110621219A>G" "" "NA" "" "0000058638" "0" "90" "4" "111539815" "111539815" "subst" "0" "00006" "PITX2_000029" "g.111539815C>T" "1/382 cases" "{PMID:Wang 2013:24083357}, {DOI:Wang 2013:10.1089/dna.2013.2185}" "" "NM_000325.5:c.441G>A (W147X)" "" "De novo" "" "" "0" "" "" "g.110618659C>T" "" "pathogenic" "" "0000058639" "1" "90" "4" "111539799" "111539799" "subst" "0" "00006" "PITX2_000030" "g.111539799T>C" "" "{PMID:Wang 2013:24083357}, {DOI:Wang 2013:10.1089/dna.2013.2185}" "" "NM_000325.5:c.457A>G (N153D)" "" "Germline" "yes" "" "0" "" "" "g.110618643T>C" "" "pathogenic" "" "0000058640" "0" "90" "4" "111539799" "111539799" "subst" "0" "00006" "PITX2_000030" "g.111539799T>C" "" "{PMID:Wang 2013:24083357}, {DOI:Wang 2013:10.1089/dna.2013.2185}" "" "NM_000325.5:c.457A>G (N153D)" "N153D expression cloning CHO cells reduced activation (0.4) atrial natriuretic factor promoter" "In vitro (cloned)" "-" "" "0" "" "" "g.110618643T>C" "" "NA" "" "0000058641" "0" "90" "4" "111539815" "111539815" "subst" "0" "00006" "PITX2_000029" "g.111539815C>T" "" "{PMID:Wang 2013:24083357}, {DOI:Wang 2013:10.1089/dna.2013.2185}" "" "NM_000325.5:c.441G>A (W147X)" "W147X expression cloning CHO cells reduced activation (0.3) atrial natriuretic factor promoter" "In vitro (cloned)" "-" "" "0" "" "" "g.110618659C>T" "" "NA" "" "0000058642" "1" "90" "4" "111542382" "111542382" "subst" "0" "00006" "PITX2_000031" "g.111542382G>A" "" "{PMID:Wang 2014:24333117}, {DOI:Wang 2014:10.1016/j.ejmg.2013.11.004}" "" "NM_000325.5:c.349C>T (P117S)" "" "Germline" "yes" "" "0" "" "" "g.110621226G>A" "" "pathogenic" "" "0000058643" "0" "90" "4" "111542382" "111542382" "subst" "0" "00006" "PITX2_000031" "g.111542382G>A" "" "{PMID:Wang 2014:24333117}, {DOI:Wang 2014:10.1016/j.ejmg.2013.11.004}" "" "NM_000325.5:c.349C>T (P117S)" "P117S expression cloning CHO cells reduced activation (0.3) atrial natriuretic factor promoter" "In vitro (cloned)" "-" "" "0" "" "" "g.110621226G>A" "" "NA" "" "0000058688" "0" "90" "4" "111539399" "111539399" "subst" "0" "01155" "PITX2_000001" "g.111539399G>A" "" "" "" "NM_000325:c.857C>T (Ser286Leu)" "" "Unknown" "" "" "0" "" "" "g.110618243G>A" "" "pathogenic" "" "0000058689" "0" "90" "4" "111542438" "111542438" "dup" "0" "01239" "PITX2_000002" "g.111542438dup" "" "{PMID:Reis 2012:22569110}" "" "" "" "Germline" "" "" "0" "" "" "g.110621282dup" "" "pathogenic" "" "0000058690" "0" "90" "4" "111542428" "111542429" "del" "0" "01239" "PITX2_000003" "g.111542428_111542429del" "" "{PMID:Reis 2012:22569110}" "" "143_144delGC" "" "Germline" "" "" "0" "" "" "g.110621272_110621273del" "" "pathogenic" "" "0000058691" "0" "90" "4" "111542428" "111542429" "del" "0" "01239" "PITX2_000003" "g.111542428_111542429del" "" "{PMID:Reis 2012:22569110}" "" "143_144delGC" "" "Germline" "" "" "0" "" "" "g.110621272_110621273del" "" "pathogenic" "" "0000058692" "0" "90" "4" "111542428" "111542429" "del" "0" "01239" "PITX2_000003" "g.111542428_111542429del" "" "{PMID:Reis 2012:22569110}" "" "143_144delGC" "" "Germline" "" "" "0" "" "" "g.110621272_110621273del" "" "pathogenic" "" "0000058693" "0" "90" "4" "111542387" "111542387" "subst" "0" "01239" "PITX2_000004" "g.111542387C>T" "" "{PMID:Reis 2012:22569110}" "" "" "" "Germline" "" "" "0" "" "" "g.110621231C>T" "" "pathogenic" "" "0000058694" "0" "90" "4" "111542347" "111542347" "subst" "0" "01239" "PITX2_000005" "g.111542347C>T" "" "{PMID:Reis 2012:22569110}" "" "" "" "Germline" "" "" "0" "" "" "g.110621191C>T" "" "pathogenic" "" "0000058695" "0" "90" "4" "111542347" "111542347" "subst" "0" "01239" "PITX2_000005" "g.111542347C>T" "" "{PMID:Reis 2012:22569110}" "" "" "" "Germline" "" "" "0" "" "" "g.110621191C>T" "" "pathogenic" "" "0000058696" "0" "90" "4" "111542347" "111542347" "subst" "0" "01239" "PITX2_000005" "g.111542347C>T" "" "{PMID:Reis 2012:22569110}" "" "" "" "Germline" "" "" "0" "" "" "g.110621191C>T" "" "pathogenic" "" "0000058697" "0" "90" "4" "111542325" "111542325" "subst" "0" "01239" "PITX2_000006" "g.111542325C>A" "" "{PMID:Reis 2012:22569110}" "" "" "" "Unknown" "" "" "0" "" "" "g.110621169C>A" "" "pathogenic" "" "0000058698" "0" "90" "4" "111539855" "111539855" "subst" "0" "01239" "PITX2_000007" "g.111539855T>C" "" "{PMID:Reis 2012:22569110}" "" "" "" "Unknown" "" "" "0" "" "" "g.110618699T>C" "" "pathogenic" "" "0000058699" "0" "90" "4" "111539855" "111539855" "subst" "0" "01239" "PITX2_000007" "g.111539855T>C" "" "{PMID:Reis 2012:22569110}" "" "" "" "Unknown" "" "" "0" "" "" "g.110618699T>C" "" "pathogenic" "" "0000058700" "0" "90" "4" "111539855" "111539855" "subst" "0" "01239" "PITX2_000007" "g.111539855T>C" "" "{PMID:Reis 2012:22569110}" "" "" "" "Unknown" "" "" "0" "" "" "g.110618699T>C" "" "pathogenic" "" "0000058701" "0" "90" "4" "111539845" "111539845" "subst" "0" "01239" "PITX2_000008" "g.111539845T>C" "" "{PMID:Reis 2012:22569110}" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "g.110618689T>C" "" "pathogenic" "" "0000058702" "0" "90" "4" "111539845" "111539845" "subst" "0" "01239" "PITX2_000008" "g.111539845T>C" "" "{PMID:Reis 2012:22569110}" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "g.110618689T>C" "" "pathogenic" "" "0000058703" "0" "90" "4" "111542526" "111542526" "subst" "0" "00006" "PITX2_000016" "g.111542526C>A" "" "{PMID:Maciolek 2006:16834779}" "" "IVS4-1G>T" "variant not maternally inherited; RNA analysis mini-gene splicing construct HEK293 cells" "Unknown" "" "" "0" "" "" "g.110621370C>A" "" "pathogenic" "" "0000058704" "0" "90" "4" "111542315" "111542315" "subst" "0" "00006" "PITX2_000017" "g.111542315C>G" "" "{PMID:Maciolek 2006:16834779}" "" "IVS4+5G>C" "RNA analysis mini-gene splicing construct HEK293 cells, 0.71 intron retention" "Germline" "" "" "0" "" "" "g.110621159C>G" "" "pathogenic" "" "0000058705" "0" "90" "4" "111539855" "111539855" "subst" "0" "00006" "PITX2_000007" "g.111539855T>C" "" "{PMID:Maciolek 2006:16834779}" "" "IVS5-11G>T" "RNA analysis mini-gene splicing construct HEK293 cells" "Germline" "" "" "0" "" "" "g.110618699T>C" "" "pathogenic" "" "0000058706" "0" "90" "4" "111539840" "111539840" "subst" "0" "01239" "PITX2_000009" "g.111539840C>G" "" "{PMID:Reis 2012:22569110}" "" "" "" "Germline" "" "" "0" "" "" "g.110618684C>G" "" "pathogenic" "" "0000058707" "0" "90" "4" "111539839" "111539839" "subst" "0" "01239" "PITX2_000010" "g.111539839C>A" "" "{PMID:Reis 2012:22569110}" "" "" "" "Unknown" "" "" "0" "" "" "g.110618683C>A" "" "pathogenic" "" "0000058708" "0" "90" "4" "111539828" "111539828" "subst" "0" "01239" "PITX2_000011" "g.111539828C>G" "" "{PMID:Reis 2012:22569110}" "" "" "" "Unknown" "" "" "0" "" "" "g.110618672C>G" "" "pathogenic" "" "0000058709" "0" "90" "4" "111539809" "111539810" "del" "0" "01239" "PITX2_000012" "g.111539809_111539810del" "" "{PMID:Reis 2012:22569110}" "" "289_290delAG" "" "Unknown" "" "" "0" "" "" "g.110618653_110618654del" "" "pathogenic" "" "0000058710" "0" "90" "4" "111539731" "111539731" "del" "0" "01239" "PITX2_000013" "g.111539731del" "" "{PMID:Reis 2012:22569110}" "" "" "" "Germline" "" "" "0" "" "" "g.110618575del" "" "pathogenic" "" "0000058711" "0" "90" "4" "111539699" "111539699" "subst" "0" "01239" "PITX2_000014" "g.111539699C>T" "" "{PMID:Reis 2012:22569110}" "" "" "" "Germline" "" "" "0" "" "" "g.110618543C>T" "" "pathogenic" "" "0000058712" "0" "90" "4" "111539369" "111539391" "del" "0" "01239" "PITX2_000015" "g.111539369_111539391del" "" "{PMID:Reis 2012:22569110}" "" "" "? reference sequence" "Unknown" "" "" "0" "" "" "g.110618213_110618235del" "" "pathogenic" "" "0000058713" "0" "90" "4" "111390000" "116100000" "" "0" "01239" "PITX2_000000" "g.(111100000_111390000)_(116100000_118000000)del" "" "{PMID:Reis 2012:22569110}" "" "" "6.4Mb gene deletion 4q25-q26 from ENPEP to NDST4" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000058714" "0" "90" "4" "110830000" "111600000" "" "0" "01239" "PITX2_000000" "g.(110794000_110830000)_(111600000_113100000)del" "" "{PMID:Reis 2012:22569110}" "" "" "1.1Mb deletion 4q25 from EGF to PITX2" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000058715" "0" "90" "4" "110970000" "130150000" "" "0" "01239" "PITX2_000000" "g.(110935000_110970000)_(130150000_130200000)del" "" "{PMID:Reis 2012:22569110}" "" "" "19.2Mb deletion 4q25-q28.2 from ELOVL6 to SCLT1" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000058716" "0" "90" "4" "111539280" "111554155" "del" "0" "01239" "PITX2_000000" "g.(?_111539280)_(111554155_?)del" "" "{PMID:Reis 2012:22569110}" "" "" "complete gene deletion" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000058717" "0" "90" "4" "111539280" "111554155" "del" "0" "01239" "PITX2_000000" "g.(?_111539280)_(111554155_?)del" "" "{PMID:Reis 2012:22569110}" "" "" "complete gene deletion" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000058718" "0" "70" "4" "111554155" "112500000" "del" "0" "01239" "PITX2_000000" "g.(?_111554155)_(112500000_?)del" "" "{PMID:Reis 2012:22569110}" "" "" "deletion of distant upstream region" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000222661" "21" "90" "4" "111539399" "111539399" "subst" "0" "00006" "PITX2_000001" "g.111539399G>A" "" "{PMID:Kelberman 2011:21837767}, {DOI:Kelberman 2011:10.1002/humu.21550}" "" "" "" "Germline" "" "" "0" "" "" "g.110618243G>A" "" "pathogenic" "" "0000222663" "0" "90" "4" "111539399" "111539399" "subst" "0" "00006" "PITX2_000001" "g.111539399G>A" "" "{PMID:Kelberman 2011:21837767}, {DOI:Kelberman 2011:10.1002/humu.21550}" "" "" "" "Germline" "" "" "0" "" "" "g.110618243G>A" "" "pathogenic" "" "0000222875" "0" "90" "4" "111542424" "111542424" "subst" "0" "01741" "PITX2_000032" "g.111542424G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.110621268G>A" "" "pathogenic" "" "0000296984" "0" "10" "4" "111539694" "111539694" "subst" "0.00303525" "02325" "PITX2_000034" "g.111539694C>T" "" "" "" "PITX2(NM_000325.5):c.562G>A (p.(Ala188Thr)), PITX2(NM_001204397.1):c.541G>A (p.A181T), PITX2(NM_001204397.2):c.541G>A (p.A181T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110618538C>T" "" "benign" "" "0000296985" "0" "50" "4" "111539489" "111539489" "subst" "8.12229E-6" "02325" "PITX2_000033" "g.111539489C>T" "" "" "" "PITX2(NM_001204397.2):c.746G>A (p.S249N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110618333C>T" "" "VUS" "" "0000305699" "0" "30" "4" "111539694" "111539694" "subst" "0.00303525" "01943" "PITX2_000034" "g.111539694C>T" "" "" "" "PITX2(NM_000325.5):c.562G>A (p.(Ala188Thr)), PITX2(NM_001204397.1):c.541G>A (p.A181T), PITX2(NM_001204397.2):c.541G>A (p.A181T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110618538C>T" "" "likely benign" "" "0000305700" "0" "30" "4" "111543554" "111543554" "subst" "0.00335625" "01943" "PITX2_000035" "g.111543554G>A" "" "" "" "PITX2(NM_000325.5):c.63C>T (p.A21=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110622398G>A" "" "likely benign" "" "0000351525" "21" "90" "4" "111539826" "111539826" "subst" "0" "01239" "PITX2_000036" "g.111539826G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.110618670G>A" "" "pathogenic" "" "0000351526" "0" "90" "4" "111539838" "111539838" "subst" "0" "01239" "PITX2_000037" "g.111539838A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.110618682A>G" "" "pathogenic" "" "0000351527" "0" "90" "4" "111539741" "111539741" "del" "0" "01239" "PITX2_000038" "g.111539741del" "" "" "" "494delA" "" "Germline" "yes" "" "0" "" "" "g.110618585del" "" "pathogenic" "" "0000521198" "0" "30" "4" "111539596" "111539596" "subst" "4.06088E-6" "02327" "PITX2_000039" "g.111539596T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110618440T>G" "" "likely benign" "" "0000521199" "0" "30" "4" "111539617" "111539617" "subst" "0.000308607" "02327" "PITX2_000040" "g.111539617T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110618461T>A" "" "likely benign" "" "0000521200" "0" "30" "4" "111539694" "111539694" "subst" "0.00303525" "01804" "PITX2_000034" "g.111539694C>T" "" "" "" "PITX2(NM_000325.5):c.562G>A (p.(Ala188Thr)), PITX2(NM_001204397.1):c.541G>A (p.A181T), PITX2(NM_001204397.2):c.541G>A (p.A181T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110618538C>T" "" "likely benign" "" "0000521201" "0" "10" "4" "111542234" "111542234" "subst" "0" "02327" "PITX2_000041" "g.111542234C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110621078C>T" "" "benign" "" "0000521203" "0" "30" "4" "111542533" "111542533" "subst" "9.02416E-5" "01804" "PITX2_000043" "g.111542533C>G" "" "" "" "PITX2(NM_000325.5):c.206-8G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110621377C>G" "" "likely benign" "" "0000521204" "0" "30" "4" "111543425" "111543425" "subst" "5.05403E-6" "02327" "PITX2_000044" "g.111543425G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110622269G>C" "" "likely benign" "" "0000521205" "0" "30" "4" "111553493" "111553493" "subst" "0" "01804" "PITX2_000045" "g.111553493C>T" "" "" "" "PITX2(NM_001204397.1):c.184+6G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110632337C>T" "" "likely benign" "" "0000521206" "0" "30" "4" "111554101" "111554101" "subst" "0.0114028" "01804" "PITX2_000046" "g.111554101G>C" "" "" "" "PITX2(NM_001204397.1):c.46+8C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110632945G>C" "" "likely benign" "" "0000594728" "0" "70" "4" "111539399" "111539399" "dup" "0" "01164" "PITX2_000048" "g.111539399dup" "" "" "" "" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000602983" "0" "70" "4" "111539779" "111539779" "subst" "0" "01164" "PITX2_000049" "g.111539779G>T" "" "" "" "" "ACMG: PVS1,PM2" "Germline" "" "" "0" "" "" "g.110618623G>T" "" "likely pathogenic" "ACMG" "0000608977" "0" "30" "4" "111539394" "111539394" "subst" "0.000219311" "01943" "PITX2_000050" "g.111539394G>A" "" "" "" "PITX2(NM_001204397.1):c.841C>T (p.L281=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110618238G>A" "" "likely benign" "" "0000608978" "0" "30" "4" "111539443" "111539443" "subst" "4.06098E-6" "02327" "PITX2_000051" "g.111539443G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110618287G>A" "" "likely benign" "" "0000608979" "0" "30" "4" "111542251" "111542251" "subst" "0" "02327" "PITX2_000052" "g.111542251T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110621095T>C" "" "likely benign" "" "0000682884" "21" "70" "4" "111539637" "111539637" "subst" "0.000251773" "00006" "PITX2_000053" "g.111539637T>C" "" "{PMID:Mechakra 2019:30558760}" "" "619A>G (Met207Val)" "" "Germline" "yes" "rs138163892" "0" "" "" "g.110618481T>C" "" "association" "" "0000719697" "0" "70" "4" "111539846" "111539846" "subst" "0" "02329" "PITX2_000054" "g.111539846T>C" "" "" "" "PITX2(NM_001204397.1):c.391-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000719698" "0" "70" "4" "111542322" "111542322" "subst" "0" "02330" "PITX2_000055" "g.111542322G>A" "" "" "" "PITX2(NM_001204397.1):c.388C>T (p.R130W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000719699" "0" "50" "4" "111554117" "111554117" "subst" "8.12546E-6" "02329" "PITX2_000047" "g.111554117A>C" "" "" "" "PITX2(NM_001204397.1):c.38T>G (p.(Val13Gly), p.V13G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000736869" "1" "70" "4" "111539828" "111539830" "del" "0" "00000" "PITX2_000056" "g.111539828_111539830del" "1/181 individuals" "{PMID:Sergouniotis 2016:27628848}" "" "" "no genotypes reported" "Germline" "" "" "0" "" "" "g.110618672_110618674del" "" "likely pathogenic" "" "0000765968" "0" "70" "4" "111539365" "111539365" "subst" "0" "00000" "PITX2_000057" "g.111539365C>T" "" "{PMID:Huang 2015:26310487}" "" "891C>A" "" "Germline" "" "" "0" "" "" "g.110618209C>T" "" "likely pathogenic" "" "0000796610" "0" "50" "4" "111539853" "111539853" "subst" "0" "01741" "PITX2_000058" "g.111539853G>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "" "0000798583" "0" "90" "4" "111542469" "111542469" "subst" "0" "04164" "PITX2_000069" "g.111542469T>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000798584" "0" "70" "4" "111542417" "111542417" "subst" "0" "04164" "PITX2_000067" "g.111542417T>G" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000798585" "0" "70" "4" "111542414" "111542415" "ins" "0" "04164" "PITX2_000068" "g.111542414_111542415insACC" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.110621258_110621259insACC" "" "pathogenic" "ACMG" "0000798586" "0" "70" "4" "111542399" "111542399" "subst" "0" "04164" "PITX2_000065" "g.111542399A>C" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000798587" "0" "70" "4" "111542399" "111542399" "subst" "0" "04164" "PITX2_000066" "g.111542399A>G" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000798588" "0" "70" "4" "111542382" "111542382" "subst" "0" "04164" "PITX2_000064" "g.111542382G>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000798589" "0" "70" "4" "111539855" "111539855" "subst" "0" "04164" "PITX2_000007" "g.111539855T>C" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "VUS" "ACMG" "0000798590" "0" "70" "4" "111539855" "111539855" "subst" "0" "04164" "PITX2_000007" "g.111539855T>C" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "VUS" "ACMG" "0000798591" "0" "70" "4" "111539845" "111539845" "subst" "0" "04164" "PITX2_000062" "g.111539845C>T" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000798592" "0" "70" "4" "111539828" "111539828" "subst" "0" "04164" "PITX2_000011" "g.111539828C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "VUS" "ACMG" "0000798593" "0" "70" "4" "111539815" "111539815" "subst" "0" "04164" "PITX2_000029" "g.111539815C>T" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000798594" "0" "70" "4" "111539751" "111539751" "del" "0" "04164" "PITX2_000061" "g.111539751del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.110618595del" "" "pathogenic" "ACMG" "0000798595" "0" "70" "4" "111539722" "111539722" "del" "0" "04164" "PITX2_000060" "g.111539722del" "" "" "" "515delC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.110618566del" "" "pathogenic" "ACMG" "0000798596" "0" "70" "4" "111539546" "111539558" "del" "0" "04164" "PITX2_000059" "g.111539546_111539558del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.110618390_110618402del" "" "pathogenic" "ACMG" "0000801461" "0" "30" "4" "111539852" "111539852" "subst" "4.07601E-6" "01804" "PITX2_000063" "g.111539852C>T" "" "" "" "PITX2(NM_000325.5):c.412-8G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000814372" "0" "70" "4" "111539828" "111539830" "del" "0" "00000" "PITX2_000056" "g.111539828_111539830del" "" "{PMID:Lenassi 2020:31848469}" "" "PITX2 c.429_431del p.(Arg144del) het [de novo]" "heterozygous" "Germline" "?" "" "0" "" "" "g.110618672_110618674del" "" "likely pathogenic" "ACMG" "0000850483" "0" "30" "4" "111553640" "111553640" "subst" "4.13192E-6" "01804" "PITX2_000070" "g.111553640G>A" "" "" "" "PITX2(NM_001204397.1):c.47-4C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000959718" "0" "90" "4" "105874852" "155436990" "delins" "0" "00006" "PITX2_000025" "g.105874852_155436990delins[108553377_111552787;105874861_106476269inv;111552806_152352431;152453534_155436984;106476270_108553373inv;152352437_155436983]" "" "{PMID:Farris 2024:38234180}" "" "Fig.2 breakpoints (segment F incorrect)" "" "De novo" "" "" "0" "" "" "g.104953696_154515834delins[107632221_110631631;104953704_105555112inv;110631654_151431279;151532382_154515832;105555113_107632216inv;151431285_154515831]" "" "pathogenic (dominant)" "" "0000962974" "0" "30" "4" "111539437" "111539437" "subst" "0.00383378" "02330" "PITX2_000071" "g.111539437C>T" "" "" "" "PITX2(NM_001204397.1):c.798G>A (p.P266=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976067" "0" "50" "4" "111543435" "111543435" "subst" "0" "01804" "PITX2_000072" "g.111543435T>A" "" "" "" "PITX2(NM_000325.6):c.182A>T (p.(Asp61Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976068" "0" "30" "4" "111554100" "111554101" "ins" "0.0114035" "01804" "PITX2_000073" "g.111554100_111554101insAA" "" "" "" "PITX2(NM_001204397.1):c.46+8_46+9insTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976069" "0" "50" "4" "111554117" "111554117" "subst" "8.12546E-6" "01804" "PITX2_000047" "g.111554117A>C" "" "" "" "PITX2(NM_001204397.1):c.38T>G (p.(Val13Gly), p.V13G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994010" "0" "50" "4" "111539337" "111539337" "subst" "0" "01804" "PITX2_000074" "g.111539337G>A" "" "" "" "PITX2(NM_000325.5):c.919C>T (p.(Gln307*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994011" "0" "50" "4" "111539565" "111539565" "subst" "0" "01804" "PITX2_000075" "g.111539565A>T" "" "" "" "PITX2(NM_000325.5):c.691T>A (p.(Ser231Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994012" "0" "30" "4" "111539724" "111539724" "subst" "0" "01804" "PITX2_000076" "g.111539724A>T" "" "" "" "PITX2(NM_000325.5):c.532T>A (p.(Tyr178Asn))" "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 PITX2 ## Count = 185 "{{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}}" "0000048004" "00025543" "90" "463" "0" "463" "0" "c.463C>T" "r.(?)" "p.(Gln155*)" "" "0000048004" "00024018" "90" "442" "0" "442" "0" "c.442C>T" "r.(?)" "p.(Gln148*)" "6" "0000055960" "00025543" "70" "0" "0" "0" "0" "-" "-" "-" "" "0000055960" "00024018" "70" "-1214" "0" "-1213" "0" "c.-1214_-1213del" "r.(=)" "p.(=)" "" "0000058632" "00025543" "90" "289" "0" "289" "0" "c.289A>G" "r.(?)" "p.(Thr97Ala)" "" "0000058632" "00024018" "90" "268" "0" "268" "0" "c.268A>G" "r.(?)" "p.(Thr90Ala)" "5" "0000058633" "00025543" "50" "289" "0" "289" "0" "c.289A>G" "r.(?)" "p.(Thr97Ala)" "" "0000058633" "00024018" "50" "268" "0" "268" "0" "c.268A>G" "r.(?)" "p.(Thr90Ala)" "5" "0000058634" "00025543" "90" "294" "0" "294" "0" "c.294C>A" "r.(?)" "p.(His98Gln)" "" "0000058634" "00024018" "90" "273" "0" "273" "0" "c.273C>A" "r.(?)" "p.(His91Gln)" "5" "0000058635" "00025543" "50" "294" "0" "294" "0" "c.294C>A" "r.(?)" "p.(His98Gln)" "" "0000058635" "00024018" "50" "273" "0" "273" "0" "c.273C>A" "r.(?)" "p.(His91Gln)" "5" "0000058636" "00025543" "90" "356" "0" "356" "0" "c.356T>C" "r.(?)" "p.(Met119Thr)" "" "0000058636" "00024018" "90" "335" "0" "335" "0" "c.335T>C" "r.(?)" "p.(Met112Thr)" "5" "0000058637" "00025543" "50" "356" "0" "356" "0" "c.356T>C" "r.(?)" "p.(Met119Thr)" "" "0000058637" "00024018" "50" "335" "0" "335" "0" "c.335T>C" "r.(?)" "p.(Met112Thr)" "5" "0000058638" "00025543" "90" "441" "0" "441" "0" "c.441G>A" "r.(?)" "p.(Trp147*)" "" "0000058638" "00024018" "90" "420" "0" "420" "0" "c.420G>A" "r.(?)" "p.(Trp140*)" "6" "0000058639" "00025543" "90" "457" "0" "457" "0" "c.457A>G" "r.(?)" "p.(Asn153Asp)" "" "0000058639" "00024018" "90" "436" "0" "436" "0" "c.436A>G" "r.(?)" "p.(Asn146Asp)" "6" "0000058640" "00025543" "50" "457" "0" "457" "0" "c.457A>G" "r.(?)" "p.(Asn153Asp)" "" "0000058640" "00024018" "50" "436" "0" "436" "0" "c.436A>G" "r.(?)" "p.(Asn146Asp)" "6" "0000058641" "00025543" "50" "441" "0" "441" "0" "c.441G>A" "r.(?)" "p.(Trp147*)" "" "0000058641" "00024018" "50" "420" "0" "420" "0" "c.420G>A" "r.(?)" "p.(Trp140*)" "6" "0000058642" "00025543" "90" "349" "0" "349" "0" "c.349C>T" "r.(?)" "p.(Pro117Ser)" "" "0000058642" "00024018" "90" "328" "0" "328" "0" "c.328C>T" "r.(?)" "p.(Pro110Ser)" "5" "0000058643" "00025543" "50" "349" "0" "349" "0" "c.349C>T" "r.(?)" "p.(Pro117Ser)" "" "0000058643" "00024018" "50" "328" "0" "328" "0" "c.328C>T" "r.(?)" "p.(Pro110Ser)" "5" "0000058688" "00025543" "90" "857" "0" "857" "0" "c.857C>T" "r.(?)" "p.(Ser286Leu)" "" "0000058688" "00024018" "90" "836" "0" "836" "0" "c.836C>T" "r.(?)" "p.(Ser279Leu)" "" "0000058689" "00025543" "90" "293" "0" "293" "0" "c.293dup" "r.(?)" "p.(His98Glnfs*154)" "" "0000058689" "00024018" "90" "272" "0" "272" "0" "c.272dup" "r.(?)" "p.(His91Glnfs*154)" "" "0000058690" "00025543" "90" "302" "0" "303" "0" "c.302_303del" "r.(?)" "p.(Ser101Thrfs*150)" "" "0000058690" "00024018" "90" "281" "0" "282" "0" "c.281_282del" "r.(?)" "p.(Ser94Thrfs*150)" "" "0000058691" "00025543" "90" "302" "0" "303" "0" "c.302_303del" "r.(?)" "p.(Ser101Thrfs*150)" "" "0000058691" "00024018" "90" "281" "0" "282" "0" "c.281_282del" "r.(?)" "p.(Ser94Thrfs*150)" "" "0000058692" "00025543" "90" "302" "0" "303" "0" "c.302_303del" "r.(?)" "p.(Ser101Thrfs*150)" "" "0000058692" "00024018" "90" "281" "0" "282" "0" "c.281_282del" "r.(?)" "p.(Ser94Thrfs*150)" "" "0000058693" "00025543" "90" "344" "0" "344" "0" "c.344G>A" "r.(?)" "p.(Arg115His)" "" "0000058693" "00024018" "90" "323" "0" "323" "0" "c.323G>A" "r.(?)" "p.(Arg108His)" "" "0000058694" "00025543" "90" "384" "0" "384" "0" "c.384G>A" "r.(?)" "p.(Trp128*)" "" "0000058694" "00024018" "90" "363" "0" "363" "0" "c.363G>A" "r.(?)" "p.(Trp121*)" "" "0000058695" "00025543" "90" "384" "0" "384" "0" "c.384G>A" "r.(?)" "p.(Trp128*)" "" "0000058695" "00024018" "90" "363" "0" "363" "0" "c.363G>A" "r.(?)" "p.(Trp121*)" "" "0000058696" "00025543" "90" "384" "0" "384" "0" "c.384G>A" "r.(?)" "p.(Trp128*)" "" "0000058696" "00024018" "90" "363" "0" "363" "0" "c.363G>A" "r.(?)" "p.(Trp121*)" "" "0000058697" "00025543" "90" "406" "0" "406" "0" "c.406G>T" "r.(?)" "p.(Val136Phe)" "" "0000058697" "00024018" "90" "385" "0" "385" "0" "c.385G>T" "r.(?)" "p.(Val129Phe)" "" "0000058698" "00025543" "90" "412" "-11" "412" "-11" "c.412-11A>G" "r.spl" "p.?" "" "0000058698" "00024018" "90" "391" "-11" "391" "-11" "c.391-11A>G" "r.spl" "p.?" "" "0000058699" "00025543" "90" "412" "-11" "412" "-11" "c.412-11A>G" "r.spl" "p.?" "" "0000058699" "00024018" "90" "391" "-11" "391" "-11" "c.391-11A>G" "r.spl" "p.?" "" "0000058700" "00025543" "90" "412" "-11" "412" "-11" "c.412-11A>G" "r.spl" "p.?" "" "0000058700" "00024018" "90" "391" "-11" "391" "-11" "c.391-11A>G" "r.spl" "p.?" "" "0000058701" "00025543" "90" "412" "-1" "412" "-1" "c.412-1A>G" "r.spl" "p.?" "" "0000058701" "00024018" "90" "391" "-1" "391" "-1" "c.391-1A>G" "r.spl" "p.?" "" "0000058702" "00025543" "90" "412" "-1" "412" "-1" "c.412-1A>G" "r.spl" "p.?" "" "0000058702" "00024018" "90" "391" "-1" "391" "-1" "c.391-1A>G" "r.spl" "p.?" "" "0000058703" "00025543" "90" "206" "-1" "206" "-1" "c.206-1G>T" "r.spl" "p.?" "" "0000058703" "00024018" "90" "185" "-1" "185" "-1" "c.185-1G>T" "r.spl" "p.?" "" "0000058704" "00025543" "90" "411" "5" "411" "5" "c.411+5G>C" "r.spl" "p.?" "" "0000058704" "00024018" "90" "390" "5" "390" "5" "c.390+5G>C" "r.spl" "p.?" "" "0000058705" "00025543" "90" "412" "-11" "412" "-11" "c.412-11A>G" "r.spl" "p.?" "" "0000058705" "00024018" "90" "391" "-11" "391" "-11" "c.391-11A>G" "r.spl" "p.?" "" "0000058706" "00025543" "90" "416" "0" "416" "0" "c.416G>C" "r.(?)" "p.(Trp139Ser)" "" "0000058706" "00024018" "90" "395" "0" "395" "0" "c.395G>C" "r.(?)" "p.(Trp132Ser)" "" "0000058707" "00025543" "90" "417" "0" "417" "0" "c.417G>T" "r.(?)" "p.(Trp139Cys)" "" "0000058707" "00024018" "90" "396" "0" "396" "0" "c.396G>T" "r.(?)" "p.(Trp132Cys)" "" "0000058708" "00025543" "90" "428" "0" "428" "0" "c.428G>C" "r.(?)" "p.(Arg143Pro)" "" "0000058708" "00024018" "90" "407" "0" "407" "0" "c.407G>C" "r.(?)" "p.(Arg136Pro)" "" "0000058709" "00025543" "90" "448" "0" "449" "0" "c.448_449del" "r.(?)" "p.(Arg150Glyfs*101)" "" "0000058709" "00024018" "90" "427" "0" "428" "0" "c.427_428del" "r.(?)" "p.(Arg143Glyfs*101)" "" "0000058710" "00025543" "90" "525" "0" "525" "0" "c.525del" "r.(?)" "p.(Asp175Glufs*33)" "" "0000058710" "00024018" "90" "504" "0" "504" "0" "c.504del" "r.(?)" "p.(Asp168Glufs*33)" "" "0000058711" "00025543" "90" "557" "0" "557" "0" "c.557G>A" "r.(?)" "p.(Trp186*)" "" "0000058711" "00024018" "90" "536" "0" "536" "0" "c.536G>A" "r.(?)" "p.(Trp179*)" "" "0000058712" "00025543" "90" "867" "0" "889" "0" "c.867_889del" "r.(?)" "p.(Ser290Alafs*48)" "" "0000058712" "00024018" "90" "846" "0" "868" "0" "c.846_868del" "r.(?)" "p.(Ser283Alafs*48)" "" "0000058713" "00025543" "90" "0" "0" "0" "0" "c.-638_*702{0}" "r.0" "p.0" "" "0000058713" "00024018" "90" "0" "0" "0" "0" "c.-1569_*702{0}" "r.0" "p.0" "" "0000058714" "00025543" "90" "0" "0" "0" "0" "c.-638_*702{0}" "r.0" "p.0" "_1_3_" "0000058714" "00024018" "90" "0" "0" "0" "0" "c.-1569_*702{0}" "r.0" "p.0" "" "0000058715" "00025543" "90" "0" "0" "0" "0" "c.-638_*702{0}" "r.0" "p.0" "_1_3_" "0000058715" "00024018" "90" "0" "0" "0" "0" "c.-1569_*702{0}" "r.0" "p.0" "" "0000058716" "00025543" "90" "0" "0" "0" "0" "c.-638_*702{0}" "r.0" "p.0" "_1_3_" "0000058716" "00024018" "90" "0" "0" "0" "0" "c.-1569_*702{0}" "r.0" "p.0" "" "0000058717" "00025543" "90" "0" "0" "0" "0" "c.-638_*702{0}" "r.0" "p.0" "_1_3_" "0000058717" "00024018" "90" "0" "0" "0" "0" "c.-1569_*702{0}" "r.0" "p.0" "" "0000058718" "00025543" "70" "0" "0" "0" "0" "-" "-" "-" "_1" "0000058718" "00024018" "70" "-8388608" "0" "-1" "0" "c.(?_-1)del" "r.?" "p.?" "_1_1" "0000222661" "00025543" "90" "857" "0" "857" "0" "c.857C>T" "r.(?)" "p.(Ser286Leu)" "" "0000222661" "00024018" "90" "836" "0" "836" "0" "c.836C>T" "r.(?)" "p.(Ser279Leu)" "" "0000222663" "00025543" "90" "857" "0" "857" "0" "c.857C>T" "r.(?)" "p.(Ser286Leu)" "" "0000222663" "00024018" "90" "836" "0" "836" "0" "c.836C>T" "r.(?)" "p.(Ser279Leu)" "" "0000222875" "00025543" "90" "307" "0" "307" "0" "c.307C>T" "r.(?)" "p.(Gln103*)" "" "0000222875" "00024018" "90" "286" "0" "286" "0" "c.286C>T" "r.(?)" "p.(Gln96*)" "" "0000296984" "00025543" "10" "562" "0" "562" "0" "c.562G>A" "r.(?)" "p.(Ala188Thr)" "" "0000296984" "00024018" "10" "541" "0" "541" "0" "c.541G>A" "r.(?)" "p.(Ala181Thr)" "" "0000296985" "00025543" "50" "767" "0" "767" "0" "c.767G>A" "r.(?)" "p.(Ser256Asn)" "" "0000296985" "00024018" "50" "746" "0" "746" "0" "c.746G>A" "r.(?)" "p.(Ser249Asn)" "" "0000305699" "00025543" "30" "562" "0" "562" "0" "c.562G>A" "r.(?)" "p.(Ala188Thr)" "" "0000305699" "00024018" "30" "541" "0" "541" "0" "c.541G>A" "r.(?)" "p.(Ala181Thr)" "" "0000305700" "00025543" "30" "63" "0" "63" "0" "c.63C>T" "r.(?)" "p.(Ala21=)" "" "0000305700" "00024018" "30" "185" "-1029" "185" "-1029" "c.185-1029C>T" "r.(=)" "p.(=)" "" "0000351525" "00025543" "90" "430" "0" "430" "0" "c.430C>T" "r.(?)" "p.(Arg144Trp)" "" "0000351525" "00024018" "90" "409" "0" "409" "0" "c.409C>T" "r.(?)" "p.(Arg137Trp)" "" "0000351526" "00025543" "90" "418" "0" "418" "0" "c.418T>C" "r.(?)" "p.(Phe140Leu)" "" "0000351526" "00024018" "90" "397" "0" "397" "0" "c.397T>C" "r.(?)" "p.(Phe133Leu)" "" "0000351527" "00025543" "90" "515" "0" "515" "0" "c.515del" "r.(?)" "p.(Gln172Argfs*36)" "" "0000351527" "00024018" "90" "494" "0" "494" "0" "c.494del" "r.(?)" "p.(Gln165Argfs*36)" "" "0000521198" "00025543" "30" "660" "0" "660" "0" "c.660A>C" "r.(?)" "p.(Pro220=)" "" "0000521198" "00024018" "30" "639" "0" "639" "0" "c.639A>C" "r.(?)" "p.(Pro213=)" "" "0000521199" "00025543" "30" "639" "0" "639" "0" "c.639A>T" "r.(?)" "p.(Ser213=)" "" "0000521199" "00024018" "30" "618" "0" "618" "0" "c.618A>T" "r.(?)" "p.(Ser206=)" "" "0000521200" "00025543" "30" "562" "0" "562" "0" "c.562G>A" "r.(?)" "p.(Ala188Thr)" "" "0000521200" "00024018" "30" "541" "0" "541" "0" "c.541G>A" "r.(?)" "p.(Ala181Thr)" "" "0000521201" "00025543" "10" "411" "86" "411" "86" "c.411+86G>A" "r.(=)" "p.(=)" "" "0000521201" "00024018" "10" "390" "86" "390" "86" "c.390+86G>A" "r.(=)" "p.(=)" "" "0000521203" "00025543" "30" "206" "-8" "206" "-8" "c.206-8G>C" "r.(=)" "p.(=)" "" "0000521203" "00024018" "30" "185" "-8" "185" "-8" "c.185-8G>C" "r.(=)" "p.(=)" "" "0000521204" "00025543" "30" "192" "0" "192" "0" "c.192C>G" "r.(?)" "p.(Ser64Arg)" "" "0000521204" "00024018" "30" "185" "-900" "185" "-900" "c.185-900C>G" "r.(=)" "p.(=)" "" "0000521205" "00025543" "30" "-9877" "0" "-9877" "0" "c.-9877G>A" "r.(?)" "p.(=)" "" "0000521205" "00024018" "30" "184" "6" "184" "6" "c.184+6G>A" "r.(=)" "p.(=)" "" "0000521206" "00025543" "30" "-10485" "0" "-10485" "0" "c.-10485C>G" "r.(?)" "p.(=)" "" "0000521206" "00024018" "30" "46" "8" "46" "8" "c.46+8C>G" "r.(=)" "p.(=)" "" "0000594728" "00025543" "70" "856" "0" "857" "0" "c.856_857dup" "r.(?)" "p.(Ser287Argfs*6)" "" "0000594728" "00024018" "70" "835" "0" "836" "0" "c.835_836dup" "r.(?)" "p.(Ser280Argfs*6)" "" "0000602983" "00025543" "70" "477" "0" "477" "0" "c.477C>A" "r.(?)" "p.(Cys159*)" "" "0000602983" "00024018" "70" "456" "0" "456" "0" "c.456C>A" "r.(?)" "p.(Cys152*)" "" "0000608977" "00025543" "30" "862" "0" "862" "0" "c.862C>T" "r.(?)" "p.(Leu288=)" "" "0000608977" "00024018" "30" "841" "0" "841" "0" "c.841C>T" "r.(?)" "p.(Leu281=)" "" "0000608978" "00025543" "30" "813" "0" "813" "0" "c.813C>T" "r.(?)" "p.(Tyr271=)" "" "0000608978" "00024018" "30" "792" "0" "792" "0" "c.792C>T" "r.(?)" "p.(Tyr264=)" "" "0000608979" "00025543" "30" "411" "69" "411" "69" "c.411+69A>G" "r.(=)" "p.(=)" "" "0000608979" "00024018" "30" "390" "69" "390" "69" "c.390+69A>G" "r.(=)" "p.(=)" "" "0000682884" "00025543" "70" "619" "0" "619" "0" "c.619A>G" "r.(?)" "p.(Met207Val)" "" "0000682884" "00024018" "70" "598" "0" "598" "0" "c.598A>G" "r.(?)" "p.(Met200Val)" "" "0000719697" "00025543" "70" "412" "-2" "412" "-2" "c.412-2A>G" "r.spl?" "p.?" "" "0000719697" "00024018" "70" "391" "-2" "391" "-2" "c.391-2A>G" "r.spl?" "p.?" "" "0000719698" "00025543" "70" "409" "0" "409" "0" "c.409C>T" "r.(?)" "p.(Arg137Trp)" "" "0000719698" "00024018" "70" "388" "0" "388" "0" "c.388C>T" "r.(?)" "p.(Arg130Trp)" "" "0000719699" "00025543" "50" "-10501" "0" "-10501" "0" "c.-10501T>G" "r.(?)" "p.(=)" "" "0000719699" "00024018" "50" "38" "0" "38" "0" "c.38T>G" "r.(?)" "p.(Val13Gly)" "" "0000736869" "00025543" "70" "429" "0" "431" "0" "c.429_431del" "r.(?)" "p.(Arg144del)" "" "0000736869" "00024018" "70" "408" "0" "410" "0" "c.408_410del" "r.(?)" "p.(Arg137del)" "" "0000765968" "00025543" "70" "891" "0" "891" "0" "c.891G>A" "r.(?)" "p.(Gln297His)" "" "0000796610" "00025543" "50" "412" "-9" "412" "-9" "c.412-9C>A" "r.spl?" "p.(?)" "" "0000796610" "00024018" "50" "391" "-9" "391" "-9" "c.391-9C>A" "r.spl?" "p.(?)" "" "0000798583" "00024018" "90" "241" "0" "241" "0" "c.241A>T" "r.(?)" "p.(Lys81*)" "" "0000798584" "00024018" "70" "293" "0" "293" "0" "c.293A>C" "r.(?)" "p.(Gln98Pro)" "" "0000798585" "00024018" "70" "295" "0" "296" "0" "c.295_296insGGT" "r.(?)" "p.(Glu99delinsGlyTer)" "" "0000798586" "00024018" "70" "311" "0" "311" "0" "c.311T>G" "r.(?)" "p.(Phe104Cys)" "" "0000798587" "00024018" "70" "311" "0" "311" "0" "c.311T>C" "r.(?)" "p.(Phe104Ser)" "" "0000798588" "00024018" "70" "328" "0" "328" "0" "c.328C>G" "r.(?)" "p.(Pro110Ala)" "" "0000798589" "00024018" "70" "391" "-11" "391" "-11" "c.391-11A>G" "r.spl?" "p.(?)" "" "0000798590" "00024018" "70" "391" "-11" "391" "-11" "c.391-11A>G" "r.spl?" "p.(?)" "" "0000798591" "00024018" "70" "391" "-1" "391" "-1" "c.391-1G>A" "r.spl" "p.?" "" "0000798592" "00024018" "70" "407" "0" "407" "0" "c.407G>C" "r.(?)" "p.(Arg136Pro)" "" "0000798593" "00024018" "70" "420" "0" "420" "0" "c.420G>A" "r.(?)" "p.(Trp140*)" "" "0000798594" "00024018" "70" "486" "0" "486" "0" "c.486del" "r.(?)" "p.(Leu163Serfs*38)" "" "0000798595" "00024018" "70" "515" "0" "515" "0" "c.515del" "r.(?)" "p.(Pro172Glnfs*29)" "" "0000798596" "00024018" "70" "677" "0" "689" "0" "c.677_689del" "r.(?)" "p.(Met226Lysfs*2)" "" "0000801461" "00025543" "30" "412" "-8" "412" "-8" "c.412-8G>A" "r.(=)" "p.(=)" "" "0000801461" "00024018" "30" "391" "-8" "391" "-8" "c.391-8G>A" "r.(=)" "p.(=)" "" "0000814372" "00025543" "70" "429" "0" "431" "0" "c.429_431del" "r.(?)" "p.(Arg144del)" "" "0000814372" "00024018" "70" "405" "0" "407" "0" "c.405_407del" "r.(?)" "p.(Arg137del)" "" "0000850483" "00025543" "30" "-10024" "0" "-10024" "0" "c.-10024C>T" "r.(?)" "p.(=)" "" "0000850483" "00024018" "30" "47" "-4" "47" "-4" "c.47-4C>T" "r.spl?" "p.?" "" "0000959718" "00025543" "90" "0" "0" "0" "0" "-" "r.?" "p.?" "_1" "0000959718" "00024018" "90" "184" "689" "184" "712" "c.184+689_184+712delins[NC_000004.12:g.104953704_105555112inv]" "r.?" "p.?" "3i" "0000962974" "00025543" "30" "819" "0" "819" "0" "c.819G>A" "r.(?)" "p.(=)" "" "0000962974" "00024018" "30" "798" "0" "798" "0" "c.798G>A" "r.(?)" "p.(=)" "" "0000976067" "00025543" "50" "182" "0" "182" "0" "c.182A>T" "r.(?)" "p.(Asp61Val)" "" "0000976067" "00024018" "50" "185" "-910" "185" "-910" "c.185-910A>T" "r.(=)" "p.(=)" "" "0000976068" "00025543" "30" "-10485" "0" "-10484" "0" "c.-10485_-10484insTT" "r.(?)" "p.(=)" "" "0000976068" "00024018" "30" "46" "8" "46" "9" "c.46+8_46+9insTT" "r.(=)" "p.(=)" "" "0000976069" "00025543" "50" "-10501" "0" "-10501" "0" "c.-10501T>G" "r.(?)" "p.(=)" "" "0000976069" "00024018" "50" "38" "0" "38" "0" "c.38T>G" "r.(?)" "p.(Val13Gly)" "" "0000994010" "00025543" "50" "919" "0" "919" "0" "c.919C>T" "r.(?)" "p.(Gln307*)" "" "0000994010" "00024018" "50" "898" "0" "898" "0" "c.898C>T" "r.(?)" "p.(Gln300*)" "" "0000994011" "00025543" "50" "691" "0" "691" "0" "c.691T>A" "r.(?)" "p.(Ser231Thr)" "" "0000994011" "00024018" "50" "670" "0" "670" "0" "c.670T>A" "r.(?)" "p.(Ser224Thr)" "" "0000994012" "00025543" "30" "532" "0" "532" "0" "c.532T>A" "r.(?)" "p.(Tyr178Asn)" "" "0000994012" "00024018" "30" "511" "0" "511" "0" "c.511T>A" "r.(?)" "p.(Tyr171Asn)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 67 "{{screeningid}}" "{{variantid}}" "0000025064" "0000048004" "0000029869" "0000055960" "0000032470" "0000058632" "0000032471" "0000058634" "0000032472" "0000058636" "0000032473" "0000058638" "0000032474" "0000058639" "0000032475" "0000058642" "0000032520" "0000058688" "0000032521" "0000058689" "0000032522" "0000058690" "0000032523" "0000058691" "0000032524" "0000058692" "0000032525" "0000058693" "0000032526" "0000058694" "0000032527" "0000058695" "0000032528" "0000058696" "0000032529" "0000058697" "0000032530" "0000058698" "0000032531" "0000058699" "0000032532" "0000058700" "0000032533" "0000058701" "0000032534" "0000058702" "0000032535" "0000058703" "0000032536" "0000058704" "0000032537" "0000058705" "0000032538" "0000058706" "0000032539" "0000058707" "0000032540" "0000058708" "0000032541" "0000058709" "0000032542" "0000058710" "0000032543" "0000058711" "0000032544" "0000058712" "0000032545" "0000058713" "0000032546" "0000058714" "0000032547" "0000058715" "0000032548" "0000058716" "0000032549" "0000058717" "0000032550" "0000058718" "0000133447" "0000222661" "0000133449" "0000222663" "0000133633" "0000222875" "0000152689" "0000351525" "0000152690" "0000351526" "0000152691" "0000351527" "0000264229" "0000594728" "0000270245" "0000602983" "0000308475" "0000682884" "0000337239" "0000736869" "0000365018" "0000765968" "0000382764" "0000796610" "0000384141" "0000798583" "0000384142" "0000798584" "0000384143" "0000798585" "0000384144" "0000798586" "0000384145" "0000798587" "0000384146" "0000798588" "0000384147" "0000798589" "0000384148" "0000798590" "0000384149" "0000798591" "0000384150" "0000798592" "0000384151" "0000798593" "0000384152" "0000798594" "0000384153" "0000798595" "0000384154" "0000798596" "0000386692" "0000814372" "0000449502" "0000959718"