### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TECPR2) # 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}}" "TECPR2" "tectonin beta-propeller repeat containing 2" "14" "q32.33" "unknown" "NG_042851.1" "UD_132319837579" "" "https://www.LOVD.nl/TECPR2" "" "1" "19957" "9895" "615000" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/TECPR2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-10-26 08:28:12" "00000" "2025-07-08 13:22:38" ## 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}}" "00020955" "TECPR2" "transcript variant 1" "001" "NM_014844.3" "" "NP_055659.2" "" "" "" "-226" "8460" "4236" "102829300" "102968818" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{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" "00201" "INFM" "infertility, male (INFM)" "" "" "" "" "" "00006" "2013-09-14 21:03:39" "00006" "2015-12-07 07:11:25" "00325" "SPG" "paraplegia, spastic (SPG)" "" "" "" "" "" "00006" "2014-02-15 22:29:17" "00006" "2016-11-28 13:01:43" "03812" "HSAN9;SPG49" "neuropathy, hereditary sensory and autonomic, type IX, with developmental delay (SPG49)" "AR" "615031" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-02-23 14:22:55" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05468" "uveitis" "uveitis" "" "" "" "" "" "00006" "2018-08-22 09:47:04" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "TECPR2" "00325" "TECPR2" "03812" ## Individuals ## Do not remove or alter this header ## ## Count = 38 "{{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}}" "00180495" "" "" "" "9" "" "02555" "{PMID:Koeleman 2014:24957906}" "Spanish cohort" "F;M" "" "Spain" "" "0" "{DB:Uveo4541?snp=rs150571175&t=1535885564}" "" "Spanish" "" "00180496" "" "" "" "14" "" "02555" "{PMID:Koeleman 2014:24957906}" "Dutch cohort" "F;M" "" "Netherlands" "" "0" "{DB:Uveo3908?snp=rs150571175&t=1535788146}" "" "Dutch" "" "00290965" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290966" "" "" "" "184" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290967" "" "" "" "37" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290968" "" "" "" "92" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290969" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00299641" "" "" "" "1" "" "00006" "{PMID:Arno 2017:28132693}" "2-generation family, 1 affeted" "M" "" "" "" "0" "" "" "" "FamGC3626Pat2" "00304417" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304418" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00307976" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:28940097}, {PMID:Neuser 2021:33847017}" "simplex case" "F" "" "Saudi Arabia" "" "0" "" "" "" "09DG00835;Pat13" "00314847" "" "" "" "1" "" "00006" "{PMID:Oz-Levi 2012:23176824}, {PMID:Neuser 2021:33847017}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Israel" "" "0" "" "" "Jewish-Bukharian" "FamAPatII1;Pat18" "00314848" "" "" "" "2" "" "00006" "{PMID:Oz-Levi 2012:23176824}, {PMID:Neuser 2021:33847017}" "2-generation family, affected brother (deceased)/sister, unaffected heterozygous carrier parents" "F" "" "Israel" "" "0" "" "" "jew-Bukharian" "FamBPatII2;Pat20" "00314849" "" "" "" "2" "" "00006" "{PMID:Oz-Levi 2012:23176824}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "" "Israel" "" "0" "" "" "Jewish-Bukharian" "FamCPatII1;Pat21" "00314850" "" "" "00314849" "1" "" "00006" "{PMID:Oz-Levi 2012:23176824}, {PMID:Neuser 2021:33847017}" "younger brother" "M" "" "Israel" "" "0" "" "" "Jewish-Bukharian" "FamCPatII2;Pat22" "00314851" "" "" "" "1" "" "00006" "{PMID:Heimer 2016:26542466}, {PMID:Neuser 2021:33847017}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Israel" "" "0" "" "" "Jewish-Ashkenazi" "Fam1;Pat24" "00314852" "" "" "" "1" "" "00006" "{PMID:Heimer 2016:26542466}, {PMID:Neuser 2021:33847017}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Israel" "" "0" "" "" "jew-Ashkenazi" "Fam2;Pat25" "00314853" "" "" "" "1" "" "00006" "{PMID:Heimer 2016:26542466}, {PMID:Neuser 2021:33847017}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Israel;Tunisia" "" "0" "" "" "Je-Ashkenazi;Tunisia;Yamani-Kurdish" "Fam3;Pat26" "00314854" "" "" "" "1" "" "00006" "{PMID:Covone 2016:27406698}, {PMID:Neuser 2021:33847017}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Italy" "" "0" "" "" "" "patient;Pat27" "00314855" "" "" "" "1" "" "00006" "{PMID:Patwari 2020:32209221}, {PMID:Neuser 2021:33847017}" "" "F" "" "United States" "" "0" "" "" "" "patient;Pat28" "00314856" "" "" "" "1" "" "00006" "{PMID:Zhu 2015:25590979}, {PMID:Neuser 2021:33847017}" "" "M" "no" "United States" "" "0" "" "" "Middle East" "Pat19;Pat23" "00448180" "" "" "" "1" "" "00006" "{PMID:Neuser 2021:33847017}, {PMID:Poli 2024:38177409}" "" "F" "yes" "Chile" "" "0" "" "" "Peru;Hispanic" "Pat17;Pat18" "00448226" "" "" "00314848" "1" "" "00006" "{PMID:Oz-Levi 2012:23176824}, {PMID:Neuser 2021:33847017}" "" "M" "" "Israel" "" "0" "" "" "jew-Bukharian" "FamBPat;Pat19" "00448227" "" "" "" "1" "" "00006" "{PMID:Neuser 2021:33847017}" "" "M" "yes" "Germany" "" "0" "" "" "Turkey" "Pat1" "00448228" "" "" "" "1" "" "00006" "{PMID:Neuser 2021:33847017}" "" "F" "no" "United States" "" "0" "" "" "Europe-E;jew-Ashkenazi" "Pat2" "00448229" "" "" "" "1" "" "00006" "{PMID:Neuser 2021:33847017}" "" "F" "no" "Germany" "" "0" "" "" "" "Pat3" "00448230" "" "" "" "1" "" "00006" "{PMID:Neuser 2021:33847017}" "" "M" "no" "United States" "" "0" "" "" "jew-Ashkenazi" "Pat4" "00448231" "" "" "" "1" "" "00006" "{PMID:Neuser 2021:33847017}" "" "M" "no" "United States" "" "0" "" "" "jew-Ashkenazi" "Pat5" "00448232" "" "" "" "1" "" "00006" "{PMID:Neuser 2021:33847017}" "" "M" "yes" "United Arab Emirates" "" "0" "" "" "" "Pat6" "00448233" "" "" "" "2" "" "00006" "{PMID:Neuser 2021:33847017}" "family, 2 affected brothers" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "Pat7" "00448234" "" "" "00448233" "1" "" "00006" "{PMID:Neuser 2021:33847017}" "brother" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "Pat8" "00448235" "" "" "" "1" "" "00006" "{PMID:Neuser 2021:33847017}" "" "M" "no" "" "" "0" "" "" "jew-Ashkenazi" "Pat9" "00448236" "" "" "" "1" "" "00006" "{PMID:Neuser 2021:33847017}" "" "M" "no" "" "" "0" "" "" "jew-Ashkenazi;Turkey" "Pat10" "00448237" "" "" "" "1" "" "00006" "{PMID:Neuser 2021:33847017}" "" "M" "no" "" "" "0" "" "" "jew-Bukharian" "Pat11" "00448238" "" "" "" "1" "" "00006" "{PMID:Neuser 2021:33847017}" "" "M" "no" "" "" "0" "" "" "jew-Bukharian" "Pat12" "00448239" "" "" "" "1" "" "00006" "{PMID:Neuser 2021:33847017}" "" "M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "Pat13" "00448240" "" "" "" "2" "" "00006" "{PMID:Neuser 2021:33847017}" "family, affected brother/sister" "M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "Pat14" "00448241" "" "" "00448240" "1" "" "00006" "{PMID:Neuser 2021:33847017}" "sister" "F" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "Asia;Pakistan" "Pat15" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 38 "{{individualid}}" "{{diseaseid}}" "00180495" "05468" "00180496" "05468" "00290965" "00198" "00290966" "00198" "00290967" "00198" "00290968" "00198" "00290969" "00198" "00299641" "04214" "00304417" "00198" "00304418" "00198" "00307976" "00139" "00314847" "00198" "00314848" "00198" "00314849" "00201" "00314850" "00201" "00314851" "00201" "00314852" "00201" "00314853" "00201" "00314854" "00198" "00314855" "00198" "00314856" "00198" "00448180" "00198" "00448226" "00198" "00448227" "00139" "00448228" "00139" "00448229" "00139" "00448230" "00139" "00448231" "00139" "00448232" "00139" "00448233" "00139" "00448234" "00139" "00448235" "00139" "00448236" "00139" "00448237" "00139" "00448238" "00139" "00448239" "00139" "00448240" "00139" "00448241" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00201, 00325, 03812, 04214, 05468 ## Count = 31 "{{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}}" "0000142890" "05468" "00180495" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "Birdshot chorioretinopathy (BSCR)" "Uveitis" "" "0000142891" "05468" "00180496" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "Birdshot chorioretinopathy (BSCR)" "Uveitis" "" "0000226951" "04214" "00299641" "00006" "Familial, autosomal recessive" "51y" "see paper; ..., 29y-photopsia (HP:0030786), slightly reduced acuity (HP:0007663), mild nyctalopia (HP:0000662); irregular pigmented lesions in periphery(HP:0007703), pale discs (HP:0000543), cystoid macular edema (HP:0011505), peripheral telangiectasia (HP:0007763) with some retinal edema (HP:0020120) and vitreous cells (HP:0004327), possible para-arteriolar sparing; 29y-ERG no identifiable responses other than a minimal, delayed response to 30Hz flicker (PERG, EOG and ERG tested), severe photoreceptor dysfunction; 29y-colour vision Ishihara 15/15 each eye; 29y-Goldmann visual fields ring scotoma at 30 degrees, binocular Esterman age 36: central 20 degrees only retained; presenting VA logMAR (Snellen) R 0.48 (20/60), L 0.3 (20/40); latest VA logMAR R 1.8 (20/1250), L 1.5 (20/630); latest refractive error, dioptres R -1.00/-1.00x5, L +0.75/-1.00x90" "29y" "" "" "" "" "" "" "" "RP78" "retinitis pigmentosa" "" "0000233399" "00139" "00307976" "00006" "Familial, autosomal recessive" "09y" "see paper; ..., no premature birth (-HP:0001622); no short stature (-HP:0004322); decreased body weight (HP:0004325); microcephaly (HP:0000252); abnormal facial shape (HP:0001999),hypotelorism; no brachycephaly (-HP:0000248); tapered fingers (HP:0001155); no abnormality of the foot (-HP:0001760); no abnormality of skeletal morphology (-HP:0011842); not yet walking; no words; global developmental delay (HP:0001263); severe intellectual disability (HP:0010864); behavioral abnormalities (HP:0000708), self-mutilation; seizures (HP:0001250), twice a day; no hyporeflexia lower limbs (-HP:0002600); no generalized hyperreflexia (-HP:0007034); muscular hypotonia (HP:0001252); no muscular hypertonia (-HP:0001276); gait ataxia (HP:0002066); abnormality autonomic nervous system (HP:0002270), lack of tearing, very high pain threshold; no temperature instability (-HP:0005968); normal systemic blood pressure (-HP:0030972); no hyperhidrosis (-HP:0000975); no peripheral neuropathy (-HP:0009830); impaired pain sensation (HP:0007328); skin ulcer (HP:0200042); no hearing impairment (-HP:0000365); opisthotonus; normal palate morphology (-HP:0000174); normal respiratory system morphology (-HP:0012252); recurrent respiratory infections (HP:0002205), bronchial asthma; no aspiration (-HP:0002835); no central hypoventilation (-HP:0007110); no nocturnal hypoventilation (-HP:0002877); gastroesophageal reflux at infancy (HP:0002020); vomiting (HP:0002013); no dysphagia (-HP:0002015); no chronic constipation (-HP:0012450); abnormal corpus callosum morphology (HP:0001273), hypoplasia; no cerebral atrophy (-HP:0002059); no cerebellar atrophy (-HP:0001272); aplasia/hypoplasia cerebellar vermis (HP:0006817); G-tube dependency" "" "08y" "" "" "" "" "" "" "HSAN9" "intellectual diability" "" "0000238605" "00198" "00314847" "00006" "Familial, autosomal recessive" "" "see paper; ..., short stature (HP:0004322); microcephaly (HP:0000252); abnormal facial shape (HP:0001999),round face, low anterior hairline, dental crowding, short broad neck, hypomimic; brachycephaly (HP:0000248); global developmental delay (HP:0001263); severe intellectual disability (HP:0010864); no seizures (-HP:0001250); hyporeflexia lower limbs (HP:0002600); no generalized hyperreflexia (-HP:0007034); muscular hypotonia (HP:0001252); muscular hypertonia (HP:0001276); gait ataxia (HP:0002066); dysarthria (HP:0001260); abnormality autonomic nervous system (HP:0002270), recurrent episodes of decreased alertness, aggravation of hypotonia and inefficient respiration requiring mechanical ventilation; abnormal systemic blood pressure (HP:0030972); peripheral neuropathy (HP:0009830); skin ulcer (HP:0200042); normal respiratory system morphology (-HP:0012252); recurrent respiratory infections (HP:0002205); no aspiration (-HP:0002835); central hypoventilation (HP:0007110); gastroesophageal reflux at infancy (HP:0002020); no vomiting (-HP:0002013); no dysphagia (-HP:0002015); no chronic constipation (-HP:0012450); abnormal corpus callosum morphology (HP:0001273), thinning; no cerebral atrophy (-HP:0002059); no cerebellar atrophy (-HP:0001272); progressive aplasia/hypoplasia cerebellar vermis (HP:0006817); very frequent central apneas (>90/hr) accompanied by hypoxemia and poor response to oxygen" "" "" "" "" "" "" "" "" "HSAN9" "hereditary spastic paraparesis" "" "0000238606" "00198" "00314848" "00006" "Familial, autosomal recessive" "" "see paper; ..., short stature (HP:0004322); microcephaly (HP:0000252); abnormal facial shape (HP:0001999),round face, low anterior hairline, dental crowding, short broad neck, hypomimic; brachycephaly (HP:0000248); global developmental delay (HP:0001263); severe intellectual disability (HP:0010864); seizures (HP:0001250), short generalized tonic-clonic seizures; hyporeflexia lower limbs (HP:0002600); no generalized hyperreflexia (-HP:0007034); muscular hypotonia (HP:0001252); muscular hypertonia (HP:0001276); gait ataxia (HP:0002066); dysarthria (HP:0001260); abnormality autonomic nervous system (HP:0002270), recurrent episodes of decreased alertness, aggravation of hypotonia and inefficient respiration requiring mechanical ventilation; abnormal systemic blood pressure (HP:0030972); peripheral neuropathy (HP:0009830); no skin ulcer (-HP:0200042); transient severe encephalopathy with intermittent elevation of transaminases; normal respiratory system morphology (-HP:0012252); recurrent respiratory infections (HP:0002205); no aspiration (-HP:0002835); central hypoventilation (HP:0007110); gastroesophageal reflux at infancy (HP:0002020); no vomiting (-HP:0002013); no dysphagia (-HP:0002015); no chronic constipation (-HP:0012450); very frequent central apneas (>90/hr) accompanied by hypoxemia and poor response to oxygen; non-invasive ventilation; intermittent elevation of transaminases (HP:0001939)" "" "" "" "" "" "" "" "" "HSAN9" "hereditary spastic paraparesis" "" "0000238607" "00201" "00314849" "00006" "Familial, autosomal recessive" "" "see paper; ..., short stature (HP:0004322); microcephaly (HP:0000252); abnormal facial shape (HP:0001999),round face, low anterior hairline, dental crowding, short broad neck, hypomimic; brachycephaly (HP:0000248); global developmental delay (HP:0001263); severe intellectual disability (HP:0010864); no seizures (-HP:0001250); hyporeflexia lower limbs (HP:0002600); no generalized hyperreflexia (-HP:0007034); muscular hypotonia (HP:0001252); muscular hypertonia (HP:0001276); gait ataxia (HP:0002066); dysarthria (HP:0001260); abnormality autonomic nervous system (HP:0002270), recurrent episodes of decreased alertness, aggravation of hypotonia and inefficient respiration requiring mechanical ventilation; abnormal systemic blood pressure (HP:0030972); peripheral neuropathy (HP:0009830); no skin ulcer (-HP:0200042); normal respiratory system morphology (-HP:0012252); recurrent respiratory infections (HP:0002205); no aspiration (-HP:0002835); central hypoventilation (HP:0007110); gastroesophageal reflux at infancy (HP:0002020); no vomiting (-HP:0002013); no dysphagia (-HP:0002015); no chronic constipation (-HP:0012450); very frequent central apneas (>90/hr) accompanied by hypoxemia and poor response to oxygen;" "" "" "" "" "" "" "" "" "HSAN9" "hereditary spastic paraparesis" "" "0000238608" "00201" "00314850" "00006" "Familial, autosomal recessive" "" "see paper; ..., short stature (HP:0004322); microcephaly (HP:0000252); abnormal facial shape (HP:0001999),round face, low anterior hairline, dental crowding, short broad neck, hypomimic; brachycephaly (HP:0000248); global developmental delay (HP:0001263); severe intellectual disability (HP:0010864); no seizures (-HP:0001250); hyporeflexia lower limbs (HP:0002600); no generalized hyperreflexia (-HP:0007034); muscular hypotonia (HP:0001252); muscular hypertonia (HP:0001276); gait ataxia (HP:0002066); dysarthria (HP:0001260); abnormality autonomic nervous system (HP:0002270), recurrent episodes of decreased alertness, aggravation of hypotonia and inefficient respiration requiring mechanical ventilation; abnormal systemic blood pressure (HP:0030972); peripheral neuropathy (HP:0009830); no skin ulcer (-HP:0200042); normal respiratory system morphology (-HP:0012252); recurrent respiratory infections (HP:0002205); no aspiration (-HP:0002835); central hypoventilation (HP:0007110); gastroesophageal reflux at infancy (HP:0002020); no vomiting (-HP:0002013); no dysphagia (-HP:0002015); no chronic constipation (-HP:0012450); abnormal corpus callosum morphology (HP:0001273), thinning; cerebral atrophy (HP:0002059); no cerebellar atrophy (-HP:0001272); aplasia/hypoplasia cerebellar vermis (HP:0006817); very frequent central apneas (>90/hr) accompanied by hypoxemia and poor response to oxygen" "" "" "" "" "" "" "" "" "HSAN9" "hereditary spastic paraparesis" "" "0000238609" "00201" "00314851" "00006" "Familial, autosomal recessive" "" "see paper; ..., no premature birth (-HP:0001622); no small for gestational age (-HP:0001518); no short stature (-HP:0004322); abnormal facial shape (HP:0001999),mild coarse face, short neck, retrocollis; no brachycephaly (-HP:0000248); pectus carinatum; 3y-walk; 4y-first words; 2-3 word sentences at age 4y; global developmental delay (HP:0001263); oderate intellectual disability (HP:0002342); behavioral abnormalities (HP:0000708), hyperactivity, impulsivity; no seizures (-HP:0001250); hyporeflexia lower limbs (HP:0002600); no generalized hyperreflexia (-HP:0007034); muscular hypotonia (HP:0001252); no muscular hypertonia (-HP:0001276); gait ataxia (HP:0002066); abnormality autonomic nervous system (HP:0002270), fainting/awake apnea, recurrent sudden loss of consciousness; no temperature instability (-HP:0005968); normal systemic blood pressure (-HP:0030972); no hyperhidrosis (-HP:0000975); peripheral neuropathy (HP:0009830); impaired pain sensation (HP:0007328); no skin ulcer (-HP:0200042); hearing impairment (HP:0000365), mild bilateral neurosensory hearing defect; visual impairment (HP:0000505), astigmatism, myopia; arched palate (HP:0000174); bilateral lung disease, unilateral emphysema, bronchiectasis (HP:0012252); recurrent respiratory infections (HP:0002205); aspiration (HP:0002835); central hypoventilation (HP:0007110); nocturnal hypoventilation (HP:0002877); gastroesophageal reflux at infancy (HP:0002020); vomiting (HP:0002013); no dysphagia (-HP:0002015); no chronic constipation (-HP:0012450); EEG normal (-HP:0002353); normal corpus callosum morphology (-HP:0001273); no cerebral atrophy (-HP:0002059); no cerebellar atrophy (-HP:0001272); no aplasia/hypoplasia cerebellar vermis (-HP:0006817); average of 12 apneic episodes per hour during sleep with peak O2 desaturation of 80% and pCO2 of 55 mmHg; neurogenic, sensory-motor swallowing defect; G-tube dependency; normal metabolism/homeostasis (-HP:0001939);" "" "" "" "" "" "" "" "" "HSAN9" "hereditary spastic paraparesis" "" "0000238610" "00201" "00314852" "00006" "Familial, autosomal recessive" "18y" "see paper; ..., no premature birth (-HP:0001622); no small for gestational age (-HP:0001518); no congenital microcephaly (-HP:0011451); short stature (HP:0004322); no decreased body weight (-HP:0004325); microcephaly (HP:0000252); abnormal facial shape (HP:0001999),\"mild facial dysmorphism\", retrocollis; no brachycephaly (-HP:0000248); small feet; scoliosis; 4y-walk; 10 partial words at age 7y; global developmental delay (HP:0001263); severe intellectual disability (HP:0010864); behavioral abnormalities (HP:0000708), restlessness, mood swings; no seizures (-HP:0001250); hyporeflexia lower limbs (HP:0002600); no generalized hyperreflexia (-HP:0007034); muscular hypotonia (HP:0001252); no muscular hypertonia (-HP:0001276); gait ataxia (HP:0002066); abnormality autonomic nervous system (HP:0002270), autonomic neuropathy (tested by SSR test), episodes of unexplained fever or hypothermia, bradycardia or hypertension, cold extremities, hyper or hyponatremic dehydration and sweating with pallor; temperature instability (HP:0005968); abnormal systemic blood pressure (HP:0030972); hyperhidrosis (HP:0000975); peripheral neuropathy (HP:0009830); impaired pain sensation (HP:0007328); skin ulcer (HP:0200042); hearing impairment (HP:0000365), decreased hearing; visual impairment (HP:0000505), esotropia; encephalopathy events; high arched palate (HP:0000174); normal respiratory system morphology (-HP:0012252); recurrent respiratory infections (HP:0002205); aspiration (HP:0002835); central hypoventilation (HP:0007110); nocturnal hypoventilation (HP:0002877); gastroesophageal reflux at infancy (HP:0002020); vomiting (HP:0002013); no dysphagia (-HP:0002015); no chronic constipation (-HP:0012450); EEG abnormal (HP:0002353), encephalopathy pattern; normal corpus callosum morphology (-HP:0001273); mild cerebral atrophy (HP:0002059); no cerebellar atrophy (-HP:0001272); aplasia/hypoplasia cerebellar vermis (HP:0006817); recurrent arousals, apneas and retained pCO2 up to values of >100 mmHg while not ventilated; G-tube dependency; non-invasive ventilation; normal metabolism/homeostasis (-HP:0001939)" "" "" "" "" "" "" "" "" "HSAN9" "hereditary spastic paraparesis" "" "0000238611" "00201" "00314853" "00006" "Familial, autosomal recessive" "" "see paper; ..., no premature birth (-HP:0001622); no small for gestational age (-HP:0001518); short stature (HP:0004322); no decreased body weight (-HP:0004325); no microcephaly (-HP:0000252); abnormal facial shape (HP:0001999),mild coarse face, low hairline, short neck, retrocollis; no brachycephaly (-HP:0000248); not yet walking; global developmental delay (HP:0001263); intellectual disability (HP:0001249); behavioral abnormalities (HP:0000708), restlessness, hyperactivity, apathy; no seizures (-HP:0001250); hyporeflexia lower limbs (HP:0002600); no generalized hyperreflexia (-HP:0007034); muscular hypotonia (HP:0001252); no muscular hypertonia (-HP:0001276); abnormality autonomic nervous system (HP:0002270), autonomic neuropathy (tested by SSR test), episodes of hyper or hyponatremic dehydration, cold extremities, postural hypotension, unexplained fevers with elevated blood pressure; temperature instability (HP:0005968); abnormal systemic blood pressure (HP:0030972); hyperhidrosis (HP:0000975); peripheral neuropathy (HP:0009830); impaired pain sensation (HP:0007328); no visual impairment (-HP:0000505); normal palate morphology (-HP:0000174); recurrent respiratory infections (HP:0002205); aspiration (HP:0002835); central hypoventilation (HP:0007110); nocturnal hypoventilation (HP:0002877); gastroesophageal reflux at infancy (HP:0002020); vomiting (HP:0002013); no dysphagia (-HP:0002015); no chronic constipation (-HP:0012450); EEG normal (-HP:0002353); abnormal corpus callosum morphology (HP:0001273), thinning; no cerebral atrophy (-HP:0002059); no cerebellar atrophy (-HP:0001272); no aplasia/hypoplasia cerebellar vermis (-HP:0006817); mild ventriculomegaly; G-tube dependency; normal metabolism/homeostasis (-HP:0001939);" "" "" "" "" "" "" "" "" "HSAN9" "hereditary spastic paraparesis" "" "0000238612" "00198" "00314854" "00006" "Familial, autosomal recessive" "15y" "see paper; ..., normal facial shape (-HP:0001999); no brachycephaly (-HP:0000248); normal age walking; normal speech; no global developmental delay (-HP:0001263); no intellectual disability (-HP:0001249); no behavioral abnormalities (-HP:0000708); no seizures (-HP:0001250); hyporeflexia lower limbs (HP:0002600); generalized hyperreflexia (HP:0007034); muscular hypotonia (HP:0001252) trunk, upper limbs; muscular hypertonia (HP:0001276) lower limbs; dysarthria (HP:0001260); peripheral neuropathy (HP:0009830); visual impairment (HP:0000505), strabismus, oculomotor apraxia; muscle atrophy, EMG: severe neurogenic pattern, joint retraction, ankle clonus, tongue fasciculations, spastic gait; no recurrent respiratory infections (-HP:0002205); abnormal corpus callosum morphology (HP:0001273), mild thinning; no cerebral atrophy (-HP:0002059); no cerebellar atrophy (-HP:0001272); no aplasia/hypoplasia cerebellar vermis (-HP:0006817); non-invasive ventilation;" "" "" "" "" "" "" "" "" "HSAN9" "progressive motor neuron disease" "" "0000238613" "00198" "00314855" "00006" "Familial, autosomal recessive" "" "see paper; ..., no premature birth (-HP:0001622); no short stature (-HP:0004322); no decreased body weight (-HP:0004325); no microcephaly (-HP:0000252); normal facial shape (-HP:0001999); no brachycephaly (-HP:0000248); 22m-walk; 50 words at age 3.5y; global developmental delay (HP:0001263); intellectual disability (HP:0001249); behavioral abnormalities (HP:0000708), excessively friendly, hyperactive; no seizures (-HP:0001250); no hyporeflexia lower limbs (-HP:0002600); no generalized hyperreflexia (-HP:0007034); muscular hypotonia (HP:0001252); no muscular hypertonia (-HP:0001276); gait ataxia (HP:0002066), poorly coordinated gait; dysarthria (HP:0001260), articulation difficulties; abnormality autonomic nervous system (HP:0002270), photophobia (without an overt pupil abnormality) and chronic constipation; impaired pain sensation (HP:0007328); visual impairment (HP:0000505), strabismus; normal respiratory system morphology (-HP:0012252); no recurrent respiratory infections (-HP:0002205); central hypoventilation (HP:0007110); nocturnal hypoventilation (HP:0002877); no gastroesophageal reflux at infancy (-HP:0002020); no vomiting (-HP:0002013); dysphagia (HP:0002015); chronic constipation (HP:0012450); EEG abnormal (HP:0002353), mild background slowing and excess fast activity diffusely, rare bursts of delta activity and multifocal epileptiform discharges without clinical correlate; normal corpus callosum morphology (-HP:0001273); no cerebral atrophy (-HP:0002059); no cerebellar atrophy (-HP:0001272); no aplasia/hypoplasia cerebellar vermis (-HP:0006817); non-specific gliosis with suspicion for myoneural disorder; complex respiratory pattern consisting of expiratory hypopneas, central appearing apneas, and questionable apneustic breathing; non-invasive ventilation; normal response to medications/anesthesia" "" "03y06m" "" "" "" "" "" "" "HSAN9" "" "" "0000238614" "00198" "00314856" "00006" "Familial, autosomal recessive" "17y" "see paper; ..., global developmental delay (HP:0001263); hyporeflexia lower limbs (HP:0002600); no generalized hyperreflexia (-HP:0007034); muscular hypotonia (HP:0001252); abnormality autonomic nervous system (HP:0002270), \"autonomic dysfunction with encephalopathic events\"; normal respiratory system morphology (-HP:0012252); recurrent respiratory infections (HP:0002205); gastroesophageal reflux at infancy (HP:0002020)" "01y" "" "" "" "" "" "" "" "SPG49" "" "" "0000337390" "00198" "00448180" "00006" "Familial, autosomal recessive" "12y04m" "see paper; ..., no premature birth (-HP:0001622); no small for gestational age (-HP:0001518); no congenital microcephaly (-HP:0011451); no short stature (-HP:0004322); no decreased body weight (-HP:0004325); no microcephaly (-HP:0000252); abnormal facial shape (HP:0001999),sloping forehead, thick eyebrows, upslanting palpebral fissures, prominent nose with bulbous tip, retrognathia; no brachycephaly (-HP:0000248); no abnormality hand (-HP:0001155); no abnormality of the foot (-HP:0001760); no abnormality of skeletal morphology (-HP:0011842); 1y8m-walk; 1y6m-first words; mildly impaired ; global developmental delay (HP:0001263); moderate intellectual disability (HP:0002342); behavioral abnormalities (HP:0000708), aggressive, psychosis; no seizures (-HP:0001250); no hyporeflexia lower limbs (-HP:0002600); no generalized hyperreflexia (-HP:0007034); muscular hypotonia (HP:0001252) during infancy; no muscular hypertonia (-HP:0001276); gait ataxia (HP:0002066); dysarthria (HP:0001260); abnormality autonomic nervous system (HP:0002270), sweating; temperature instability (HP:0005968); normal systemic blood pressure (-HP:0030972); hyperhidrosis (HP:0000975); no impaired pain sensation (-HP:0007328); no skin ulcer (-HP:0200042); no hearing impairment (-HP:0000365); no visual impairment (-HP:0000505); normal palate morphology (-HP:0000174); normal respiratory system morphology (-HP:0012252); recurrent respiratory infections (HP:0002205); no aspiration (-HP:0002835); no central hypoventilation (-HP:0007110); no gastroesophageal reflux at infancy (-HP:0002020); no vomiting (-HP:0002013); no dysphagia (-HP:0002015); no chronic constipation (-HP:0012450); EEG normal (-HP:0002353); normal corpus callosum morphology (-HP:0001273); no cerebral atrophy (-HP:0002059); no cerebellar atrophy (-HP:0001272); no aplasia/hypoplasia cerebellar vermis (-HP:0006817); no G-tube dependency; no non-invasive ventilation; normal metabolism/homeostasis (-HP:0001939); normal response to medications/anesthesia; juvenile idiopathic arthritis, uveitis" "" "10y11m" "" "" "" "" "" "" "" "rare disorder" "" "0000337436" "00198" "00448226" "00006" "Familial, autosomal recessive" "" "see paper; ..., short stature (HP:0004322); microcephaly (HP:0000252); abnormal facial shape (HP:0001999),round face, low anterior hairline, dental crowding, short broad neck, hypomimic; brachycephaly (HP:0000248); global developmental delay (HP:0001263); severe intellectual disability (HP:0010864); seizures (HP:0001250), short generalized tonic-clonic seizures; hyporeflexia lower limbs (HP:0002600); no generalized hyperreflexia (-HP:0007034); muscular hypotonia (HP:0001252); muscular hypertonia (HP:0001276); gait ataxia (HP:0002066); dysarthria (HP:0001260); abnormality autonomic nervous system (HP:0002270), recurrent episodes of decreased alertness, aggravation of hypotonia and inefficient respiration requiring mechanical ventilation; abnormal systemic blood pressure (HP:0030972); peripheral neuropathy (HP:0009830); no skin ulcer (-HP:0200042); normal respiratory system morphology (-HP:0012252); recurrent respiratory infections (HP:0002205); aspiration (HP:0002835); central hypoventilation (HP:0007110); gastroesophageal reflux at infancy (HP:0002020); no vomiting (-HP:0002013); no dysphagia (-HP:0002015); no chronic constipation (-HP:0012450); very frequent central apneas (>90/hr) accompanied by hypoxemia and poor response to oxygen;" "" "" "" "" "" "" "" "" "HSAN9" "hereditary spastic paraparesis" "" "0000337437" "00139" "00448227" "00006" "Familial, autosomal recessive" "5y4m" "developmental delay; severe failure to thrive; aortic root dilation; micropenis; dysmorphic facial features" "" "5y1m" "" "" "" "" "" "" "HSAN9" "intellectual disability" "" "0000337438" "00139" "00448228" "00006" "Familial, autosomal recessive" "1y4m" "developmental delay; speech delay; labia anomalies; limb anomalies; dysmorphic facial features; mother (unavailable) with similar phenotype" "" "1y1m" "" "" "" "" "" "" "HSAN9" "intellectual disability" "" "0000337439" "00139" "00448229" "00006" "Familial, autosomal recessive" "15y2m" "intellectual disability; autism spectrum disorder; microcephaly; strabismus; gastroesophageal reflux; limb anomalies" "" "15y" "" "" "" "" "" "" "HSAN9" "intellectual disability" "" "0000337440" "00139" "00448230" "00006" "Familial, autosomal recessive" "4y10m" "intellectual disability; immune system dysfunction juvenile idiopathic arthritis; behavioral abnormality; dysmorphic facial features; parental consanguinity; deceased sibling" "" "3y10m" "" "" "" "" "" "" "HSAN9" "intellectual disability" "" "0000337441" "00139" "00448231" "00006" "Familial, autosomal recessive" "4y" "intellectual disability; microcephaly; microphthalmia; short stature; dysmorphic facial features; sibling with similar phenotype, deceased at 1 week of age" "" "4y" "" "" "" "" "" "" "HSAN9" "intellectual disability" "" "0000337442" "00139" "00448232" "00006" "Familial, autosomal recessive" "8y" "developmental delay; macrocephaly; seizure; hypotonia; dysmorphic facial features; mother had 2 miscarriages/stillborn with anencephaly" "" "" "" "" "" "" "" "" "HSAN9" "intellectual disability" "" "0000337443" "00139" "00448233" "00006" "Familial, autosomal recessive" "6y" "intellectual disability; microcephaly; minor facial anomalies; scoliosis; renal tubular acidosis; poikiloderma" "" "3y8m" "" "" "" "" "" "" "HSAN9" "intellectual disability" "" "0000337444" "00139" "00448234" "00006" "Familial, autosomal recessive" "2y" "cerebellar vermis hypoplasia; perimembranous ventricular septal defect; oro-pharyngeal dysphagia" "" "2y5m" "" "" "" "" "" "" "HSAN9" "intellectual disability" "" "0000337445" "00139" "00448235" "00006" "Familial, autosomal recessive" "7y11m" "polyhydramnios; decreased fetal movement; seizures. deceased. two affected siblings, deceased." "" "3y6m" "" "" "" "" "" "" "HSAN9" "intellectual disability" "" "0000337446" "00139" "00448236" "00006" "Familial, autosomal recessive" "3y" "polycystic kidney dysplasia; recurrent infections; immune system dysfunction (sepsis)" "" "1y5m" "" "" "" "" "" "" "HSAN9" "intellectual disability" "" "0000337447" "00139" "00448237" "00006" "Familial, autosomal recessive" "2y9m" "developmental delay; microcephaly; severe short stature; strabismus; cryptorchidism; clinodactyly of the 5th finger; dysmorphic facial features" "" "2y1m" "" "" "" "" "" "" "HSAN9" "intellectual disability" "" "0000337448" "00139" "00448238" "00006" "Familial, autosomal recessive" "3y4m" "intellectual disability; borderline; autism spectrum disorder; macrocephaly; cranial hyperostosis; myopia; astigmatism; obesity" "" "1y4m" "" "" "" "" "" "" "HSAN9" "intellectual disability" "" "0000337449" "00139" "00448239" "00006" "Familial, autosomal recessive" "1y10m" "intellectual disability; seizures; microcephaly; short stature; ventricular septal defects; micropenis; dysmorphic facial features" "" "1y10m" "" "" "" "" "" "" "HSAN9" "intellectual disability" "" "0000337450" "00139" "00448240" "00006" "Familial, autosomal recessive" "3y" "intellectual disability-profound; conductive hearing impairment; short stature; dysmorphic facial features" "" "3y" "" "" "" "" "" "" "HSAN9" "intellectual disability" "" "0000337451" "00139" "00448241" "00006" "Familial, autosomal recessive" "5y" "motor delay; hearing impairment; strabismus; laryngomalacia; umbilical hernia; skeletal anomalies; dysmorphic facial features" "" "5y5m" "" "" "" "" "" "" "HSAN9" "intellectual disability" "" ## Screenings ## Do not remove or alter this header ## ## Count = 38 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000181432" "00180495" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" "" "0000181433" "00180496" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" "" "0000292133" "00290965" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292134" "00290966" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292135" "00290967" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292136" "00290968" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292137" "00290969" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000300751" "00299641" "1" "00006" "00006" "2020-04-18 08:53:03" "00006" "2020-04-18 09:16:58" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WGS" "0000305546" "00304417" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305547" "00304418" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309120" "00307976" "1" "00006" "00006" "2020-08-23 13:31:08" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000316021" "00314847" "1" "00006" "00006" "2020-10-19 19:13:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000316022" "00314848" "1" "00006" "00006" "2020-10-19 19:13:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000316023" "00314849" "1" "00006" "00006" "2020-10-19 19:13:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000316024" "00314850" "1" "00006" "00006" "2020-10-19 19:13:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000316025" "00314851" "1" "00006" "00006" "2020-10-19 19:13:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000316026" "00314852" "1" "00006" "00006" "2020-10-19 19:13:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000316027" "00314853" "1" "00006" "00006" "2020-10-19 19:13:33" "" "" "SEQ" "DNA" "" "" "0000316028" "00314854" "1" "00006" "00006" "2020-10-19 19:13:33" "00006" "2020-10-19 19:21:10" "SEQ;SEQ-NG" "DNA" "" "WES" "0000316029" "00314855" "1" "00006" "00006" "2020-10-19 19:13:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000316030" "00314856" "1" "00006" "00006" "2020-10-19 19:13:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449755" "00448180" "1" "00006" "00006" "2024-02-22 17:47:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449801" "00448226" "1" "00006" "00006" "2024-02-23 14:37:07" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449802" "00448227" "1" "00006" "00006" "2024-02-23 14:52:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449803" "00448228" "1" "00006" "00006" "2024-02-23 14:52:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449804" "00448229" "1" "00006" "00006" "2024-02-23 14:52:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449805" "00448230" "1" "00006" "00006" "2024-02-23 14:52:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449806" "00448231" "1" "00006" "00006" "2024-02-23 14:52:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449807" "00448232" "1" "00006" "00006" "2024-02-23 14:52:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449808" "00448233" "1" "00006" "00006" "2024-02-23 14:52:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449809" "00448234" "1" "00006" "00006" "2024-02-23 14:52:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449810" "00448235" "1" "00006" "00006" "2024-02-23 14:52:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449811" "00448236" "1" "00006" "00006" "2024-02-23 14:52:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449812" "00448237" "1" "00006" "00006" "2024-02-23 14:52:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449813" "00448238" "1" "00006" "00006" "2024-02-23 14:52:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449814" "00448239" "1" "00006" "00006" "2024-02-23 14:52:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449815" "00448240" "1" "00006" "00006" "2024-02-23 14:52:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449816" "00448241" "1" "00006" "00006" "2024-02-23 14:52:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{geneid}}" "0000181432" "TECPR2" "0000181433" "TECPR2" "0000300751" "ARHGEF18" "0000309120" "TECPR2" "0000316021" "TECPR2" "0000316022" "TECPR2" "0000316023" "TECPR2" "0000316024" "TECPR2" "0000316025" "TECPR2" "0000316026" "TECPR2" "0000316027" "TECPR2" "0000316028" "SPG7" "0000316028" "TECPR2" "0000316029" "TECPR2" "0000316030" "TECPR2" ## 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 = 122 "{{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}}" "0000255056" "0" "30" "14" "102881114" "102881114" "subst" "0.000113722" "01943" "TECPR2_000001" "g.102881114A>G" "" "" "" "TECPR2(NM_014844.4):c.622A>G (p.T208A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102414777A>G" "" "likely benign" "" "0000316427" "0" "30" "14" "102906858" "102906858" "subst" "1.21821E-5" "01943" "TECPR2_000002" "g.102906858C>T" "" "" "" "TECPR2(NM_014844.4):c.2664C>T (p.Y888=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102440521C>T" "" "likely benign" "" "0000316428" "0" "30" "14" "102906953" "102906953" "subst" "2.47893E-5" "01943" "TECPR2_000003" "g.102906953G>A" "" "" "" "TECPR2(NM_014844.4):c.2752+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102440616G>A" "" "likely benign" "" "0000316429" "0" "10" "14" "102912150" "102912150" "subst" "0.0173426" "01943" "TECPR2_000004" "g.102912150C>A" "" "" "" "TECPR2(NM_014844.4):c.2941C>A (p.Q981K), TECPR2(NM_014844.5):c.2941C>A (p.Q981K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102445813C>A" "" "benign" "" "0000316430" "0" "50" "14" "102916966" "102916966" "subst" "0.000272119" "01943" "TECPR2_000005" "g.102916966C>A" "" "" "" "TECPR2(NM_014844.4):c.3386C>A (p.S1129Y), TECPR2(NM_014844.5):c.3386C>A (p.(Ser1129Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102450629C>A" "" "VUS" "" "0000316431" "0" "50" "14" "102964011" "102964011" "subst" "0" "01943" "TECPR2_000006" "g.102964011G>A" "" "" "" "TECPR2(NM_014844.4):c.4036G>A (p.G1346R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102497674G>A" "" "VUS" "" "0000316432" "0" "30" "14" "102964064" "102964064" "subst" "0.000987608" "01943" "TECPR2_000007" "g.102964064C>A" "" "" "" "TECPR2(NM_014844.4):c.4081+8C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102497727C>A" "" "likely benign" "" "0000316433" "0" "30" "14" "102964447" "102964447" "subst" "0.00153073" "01943" "TECPR2_000008" "g.102964447G>A" "" "" "" "TECPR2(NM_014844.4):c.4089G>A (p.A1363=), TECPR2(NM_014844.5):c.4089G>A (p.A1363=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102498110G>A" "" "likely benign" "" "0000344628" "0" "70" "14" "102881063" "102881063" "subst" "0" "02327" "TECPR2_000009" "g.102881063C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102414726C>T" "" "likely pathogenic" "" "0000405128" "0" "50" "14" "102845867" "102845867" "subst" "0" "02555" "TECPR2_000010" "g.102845867G>A" "9/54 cases" "{PMID:Koeleman 2014:24957906}" "" "" "{DB:Uveo4541?snp=rs150571175&t=1535885564}" "Germline" "" "rs150571175" "0" "" "" "g.102379530G>A" "" "VUS" "" "0000405129" "0" "50" "14" "102845867" "102845867" "subst" "0" "02555" "TECPR2_000010" "g.102845867G>A" "14/192 cases" "{PMID:Koeleman 2014:24957906}" "" "" "{DB:Uveo3908?snp=rs150571175&t=1535788146}" "Germline" "" "rs150571175" "0" "" "" "g.102379530G>A" "" "VUS" "" "0000551238" "0" "10" "14" "102843039" "102843039" "subst" "0.0386377" "02330" "TECPR2_000019" "g.102843039A>C" "" "" "" "TECPR2(NM_014844.5):c.-20A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102376702A>C" "" "benign" "" "0000551239" "0" "10" "14" "102843057" "102843057" "subst" "0.0346253" "02330" "TECPR2_000020" "g.102843057C>T" "" "" "" "TECPR2(NM_014844.5):c.-2C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102376720C>T" "" "benign" "" "0000551240" "0" "50" "14" "102843129" "102843129" "subst" "0" "01943" "TECPR2_000021" "g.102843129C>T" "" "" "" "TECPR2(NM_014844.4):c.71C>T (p.P24L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102376792C>T" "" "VUS" "" "0000551241" "0" "30" "14" "102843158" "102843158" "subst" "8.12189E-6" "01943" "TECPR2_000022" "g.102843158A>G" "" "" "" "TECPR2(NM_014844.3):c.100A>G (p.(Ile34Val)), TECPR2(NM_014844.4):c.100A>G (p.I34V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102376821A>G" "" "likely benign" "" "0000551242" "0" "50" "14" "102843231" "102843231" "subst" "4.06227E-6" "01943" "TECPR2_000023" "g.102843231A>G" "" "" "" "TECPR2(NM_014844.4):c.173A>G (p.Y58C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102376894A>G" "" "VUS" "" "0000551243" "0" "30" "14" "102873803" "102873803" "subst" "0" "01804" "TECPR2_000024" "g.102873803G>T" "" "" "" "TECPR2(NM_001172631.1):c.348G>T (p.(Gln116His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102407466G>T" "" "likely benign" "" "0000551244" "0" "50" "14" "102874889" "102874889" "subst" "2.84986E-5" "02330" "TECPR2_000025" "g.102874889A>G" "" "" "" "TECPR2(NM_014844.5):c.413A>G (p.N138S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102408552A>G" "" "VUS" "" "0000551245" "0" "30" "14" "102881098" "102881098" "subst" "0.000901574" "02330" "TECPR2_000026" "g.102881098T>C" "" "" "" "TECPR2(NM_014844.5):c.606T>C (p.S202=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102414761T>C" "" "likely benign" "" "0000551246" "0" "10" "14" "102891646" "102891646" "subst" "0.355376" "02330" "TECPR2_000027" "g.102891646A>G" "" "" "" "TECPR2(NM_014844.5):c.951+18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102425309A>G" "" "benign" "" "0000551247" "0" "30" "14" "102894582" "102894582" "subst" "0.00332726" "01943" "TECPR2_000028" "g.102894582G>A" "" "" "" "TECPR2(NM_014844.4):c.952-5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102428245G>A" "" "likely benign" "" "0000551248" "0" "10" "14" "102894593" "102894593" "subst" "0.893805" "02330" "TECPR2_000029" "g.102894593G>A" "" "" "" "TECPR2(NM_014844.5):c.958G>A (p.V320I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102428256G>A" "" "benign" "" "0000551249" "0" "30" "14" "102894622" "102894622" "subst" "0" "01943" "TECPR2_000030" "g.102894622T>C" "" "" "" "TECPR2(NM_014844.4):c.987T>C (p.I329=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102428285T>C" "" "likely benign" "" "0000551250" "0" "10" "14" "102898204" "102898204" "subst" "0.0134631" "02330" "TECPR2_000031" "g.102898204G>A" "" "" "" "TECPR2(NM_014844.5):c.1156G>A (p.A386T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102431867G>A" "" "benign" "" "0000551251" "0" "30" "14" "102898246" "102898246" "subst" "0" "01804" "TECPR2_000032" "g.102898246A>G" "" "" "" "TECPR2(NM_001172631.1):c.1198A>G (p.(Ser400Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102431909A>G" "" "likely benign" "" "0000551252" "0" "10" "14" "102898363" "102898363" "subst" "0.0390964" "02330" "TECPR2_000033" "g.102898363C>T" "" "" "" "TECPR2(NM_014844.5):c.1315C>T (p.P439S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102432026C>T" "" "benign" "" "0000551253" "0" "10" "14" "102900768" "102900768" "subst" "0.038376" "02330" "TECPR2_000034" "g.102900768A>G" "" "" "" "TECPR2(NM_014844.5):c.1614A>G (p.P538=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102434431A>G" "" "benign" "" "0000551254" "0" "30" "14" "102900798" "102900798" "subst" "0.000961142" "01943" "TECPR2_000035" "g.102900798T>G" "" "" "" "TECPR2(NM_001172631.1):c.1644T>G (p.(Asn548Lys)), TECPR2(NM_014844.4):c.1644T>G (p.N548K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102434461T>G" "" "likely benign" "" "0000551255" "0" "30" "14" "102900798" "102900798" "subst" "0.000961142" "01804" "TECPR2_000035" "g.102900798T>G" "" "" "" "TECPR2(NM_001172631.1):c.1644T>G (p.(Asn548Lys)), TECPR2(NM_014844.4):c.1644T>G (p.N548K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102434461T>G" "" "likely benign" "" "0000551256" "0" "50" "14" "102900938" "102900938" "subst" "0.000138278" "02330" "TECPR2_000036" "g.102900938C>T" "" "" "" "TECPR2(NM_014844.5):c.1784C>T (p.T595M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102434601C>T" "" "VUS" "" "0000551257" "0" "10" "14" "102900956" "102900956" "subst" "0.0164357" "02330" "TECPR2_000037" "g.102900956C>T" "" "" "" "TECPR2(NM_014844.5):c.1802C>T (p.P601L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102434619C>T" "" "benign" "" "0000551259" "0" "10" "14" "102901023" "102901023" "subst" "0.0777261" "02330" "TECPR2_000038" "g.102901023G>A" "" "" "" "TECPR2(NM_014844.5):c.1869G>A (p.G623=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102434686G>A" "" "benign" "" "0000551260" "0" "10" "14" "102901201" "102901201" "subst" "0.283069" "02330" "TECPR2_000039" "g.102901201A>G" "" "" "" "TECPR2(NM_014844.5):c.2047A>G (p.I683V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102434864A>G" "" "benign" "" "0000551261" "0" "10" "14" "102901204" "102901204" "subst" "0.0437892" "02330" "TECPR2_000018" "g.102901204C>G" "" "" "" "TECPR2(NM_014844.5):c.2050C>G (p.L684V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102434867C>G" "" "benign" "" "0000551262" "0" "30" "14" "102901330" "102901330" "subst" "0" "01943" "TECPR2_000040" "g.102901330A>G" "" "" "" "TECPR2(NM_014844.4):c.2176A>G (p.T726A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102434993A>G" "" "likely benign" "" "0000551263" "0" "30" "14" "102901461" "102901461" "subst" "5.70823E-5" "01943" "TECPR2_000041" "g.102901461G>A" "" "" "" "TECPR2(NM_014844.4):c.2307G>A (p.T769=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102435124G>A" "" "likely benign" "" "0000551264" "0" "50" "14" "102904413" "102904413" "subst" "0.00059725" "01943" "TECPR2_000042" "g.102904413G>A" "" "" "" "TECPR2(NM_014844.4):c.2449G>A (p.V817M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102438076G>A" "" "VUS" "" "0000551265" "0" "10" "14" "102904572" "102904584" "del" "0" "02330" "TECPR2_000043" "g.102904572_102904584del" "" "" "" "TECPR2(NM_014844.5):c.2578+30_2578+42delCCTGCTCCCGCTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102438235_102438247del" "" "benign" "" "0000551266" "0" "50" "14" "102906928" "102906928" "subst" "0" "01943" "TECPR2_000044" "g.102906928G>T" "" "" "" "TECPR2(NM_014844.4):c.2734G>T (p.D912Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102440591G>T" "" "VUS" "" "0000551267" "0" "10" "14" "102909991" "102909991" "subst" "0.058298" "02330" "TECPR2_000045" "g.102909991C>T" "" "" "" "TECPR2(NM_014844.5):c.2760C>T (p.S920=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102443654C>T" "" "benign" "" "0000551268" "0" "30" "14" "102910060" "102910060" "subst" "4.8813E-5" "02330" "TECPR2_000046" "g.102910060G>A" "" "" "" "TECPR2(NM_014844.5):c.2829G>A (p.R943=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102443723G>A" "" "likely benign" "" "0000551270" "0" "30" "14" "102912148" "102912148" "subst" "0.00360952" "01943" "TECPR2_000048" "g.102912148G>C" "" "" "" "TECPR2(NM_014844.4):c.2939G>C (p.R980T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102445811G>C" "" "likely benign" "" "0000551271" "0" "10" "14" "102912150" "102912150" "subst" "0.0173426" "02330" "TECPR2_000004" "g.102912150C>A" "" "" "" "TECPR2(NM_014844.4):c.2941C>A (p.Q981K), TECPR2(NM_014844.5):c.2941C>A (p.Q981K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102445813C>A" "" "benign" "" "0000551272" "0" "30" "14" "102912269" "102912269" "subst" "5.68972E-5" "02330" "TECPR2_000049" "g.102912269C>T" "" "" "" "TECPR2(NM_014844.4):c.3060C>T (p.D1020=), TECPR2(NM_014844.5):c.3060C>T (p.D1020=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102445932C>T" "" "likely benign" "" "0000551273" "0" "50" "14" "102916140" "102916140" "subst" "0" "01943" "TECPR2_000050" "g.102916140A>C" "" "" "" "TECPR2(NM_014844.4):c.3250A>C (p.N1084H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102449803A>C" "" "VUS" "" "0000551274" "0" "30" "14" "102916165" "102916165" "subst" "0.00400845" "02330" "TECPR2_000051" "g.102916165C>T" "" "" "" "TECPR2(NM_001172631.1):c.3275C>T (p.(Ser1092Leu)), TECPR2(NM_014844.5):c.3275C>T (p.S1092L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102449828C>T" "" "likely benign" "" "0000551275" "0" "30" "14" "102916165" "102916165" "subst" "0.00400845" "01804" "TECPR2_000051" "g.102916165C>T" "" "" "" "TECPR2(NM_001172631.1):c.3275C>T (p.(Ser1092Leu)), TECPR2(NM_014844.5):c.3275C>T (p.S1092L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102449828C>T" "" "likely benign" "" "0000551276" "0" "50" "14" "102918744" "102918744" "subst" "0" "01943" "TECPR2_000052" "g.102918744G>A" "" "" "" "TECPR2(NM_014844.4):c.3420G>A (p.W1140*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102452407G>A" "" "VUS" "" "0000551277" "0" "30" "14" "102918775" "102918775" "subst" "2.0558E-5" "01943" "TECPR2_000053" "g.102918775G>A" "" "" "" "TECPR2(NM_014844.4):c.3451G>A (p.V1151I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102452438G>A" "" "likely benign" "" "0000551278" "0" "10" "14" "102918789" "102918789" "subst" "0.0015171" "01943" "TECPR2_000054" "g.102918789C>A" "" "" "" "TECPR2(NM_014844.4):c.3465C>A (p.S1155R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102452452C>A" "" "benign" "" "0000648822" "1" "30" "14" "102894569" "102894569" "subst" "0" "03575" "TECPR2_000011" "g.102894569T>G" "7/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 heterozygous, no homozygous; {DB:CLININ14:102894569}" "Germline" "" "" "0" "" "" "g.102428232T>G" "" "likely benign" "" "0000648823" "1" "10" "14" "102898363" "102898363" "subst" "0.0390964" "03575" "TECPR2_000033" "g.102898363C>T" "184/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "184 heterozygous; {DB:CLININrs2273906}" "Germline" "" "rs2273906" "0" "" "" "g.102432026C>T" "" "benign" "" "0000648824" "1" "10" "14" "102900956" "102900956" "subst" "0.0164357" "03575" "TECPR2_000037" "g.102900956C>T" "37/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "37 heterozygous; {DB:CLININrs118141823}" "Germline" "" "rs118141823" "0" "" "" "g.102434619C>T" "" "benign" "" "0000648825" "1" "10" "14" "102912150" "102912150" "subst" "0.0173426" "03575" "TECPR2_000004" "g.102912150C>A" "92/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "92 heterozygous, no homozygous; {DB:CLININrs62000389}" "Germline" "" "rs62000389" "0" "" "" "g.102445813C>A" "" "benign" "" "0000648826" "1" "30" "14" "102916165" "102916165" "subst" "0.00400845" "03575" "TECPR2_000051" "g.102916165C>T" "8/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 heterozygous, no homozygous; {DB:CLININrs72700618}" "Germline" "" "rs72700618" "0" "" "" "g.102449828C>T" "" "likely benign" "" "0000657335" "0" "50" "14" "102901414" "102901414" "subst" "1.22141E-5" "01943" "TECPR2_000055" "g.102901414G>A" "" "" "" "TECPR2(NM_014844.4):c.2260G>A (p.E754K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102435077G>A" "" "VUS" "" "0000663626" "1" "50" "14" "102900798" "102900798" "subst" "0.000961142" "00006" "TECPR2_000035" "g.102900798T>G" "" "{PMID:Arno 2017:28132693}" "" "" "" "Germline" "" "" "0" "" "" "g.102434461T>G" "" "VUS" "" "0000663627" "2" "50" "14" "102916165" "102916165" "subst" "0.00400845" "00006" "TECPR2_000051" "g.102916165C>T" "" "{PMID:Arno 2017:28132693}" "" "" "" "Germline" "" "" "0" "" "" "g.102449828C>T" "" "VUS" "" "0000669234" "3" "10" "14" "102898363" "102898363" "subst" "0.0390964" "03575" "TECPR2_000033" "g.102898363C>T" "5/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 homozygous; {DB:CLININrs2273906}" "Germline" "" "rs2273906" "0" "" "" "g.102432026C>T" "" "benign" "" "0000669235" "3" "10" "14" "102900956" "102900956" "subst" "0.0164357" "03575" "TECPR2_000037" "g.102900956C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs118141823}" "Germline" "" "rs118141823" "0" "" "" "g.102434619C>T" "" "benign" "" "0000679876" "0" "50" "14" "102918934" "102918934" "subst" "0" "01943" "TECPR2_000056" "g.102918934C>T" "" "" "" "TECPR2(NM_014844.4):c.3610C>T (p.H1204Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000683583" "3" "70" "14" "102881063" "102881063" "subst" "0" "00006" "TECPR2_000009" "g.102881063C>T" "" "{PMID:Anazi 2017:28940097}" "" "" "ACMG PVS1,PM2" "Germline" "" "" "0" "" "" "g.102414726C>T" "" "likely pathogenic (recessive)" "ACMG" "0000698142" "3" "90" "14" "102918740" "102918740" "del" "8.25375E-6" "00006" "TECPR2_000017" "g.102918740del" "" "{PMID:Oz-Levi 2012:23176824}" "" "3416delT" "variant on shared haplotype; variant heterozygous in 4/150 Jewish Bukharian controls" "Germline" "" "" "0" "" "" "g.102452403del" "" "pathogenic (recessive)" "" "0000698143" "3" "90" "14" "102918740" "102918740" "del" "8.25375E-6" "00006" "TECPR2_000017" "g.102918740del" "" "{PMID:Oz-Levi 2012:23176824}" "" "3416delT" "variant on shared haplotype; variant heterozygous in 4/150 Jewish Bukharian controls" "Germline" "yes" "" "0" "" "" "g.102452403del" "" "pathogenic (recessive)" "" "0000698144" "3" "90" "14" "102918740" "102918740" "del" "8.25375E-6" "00006" "TECPR2_000017" "g.102918740del" "" "{PMID:Oz-Levi 2012:23176824}" "" "3416delT" "variant on shared haplotype; variant heterozygous in 4/150 Jewish Bukharian controls" "Germline" "yes" "" "0" "" "" "g.102452403del" "" "pathogenic (recessive)" "" "0000698145" "3" "90" "14" "102918740" "102918740" "del" "8.25375E-6" "00006" "TECPR2_000017" "g.102918740del" "" "{PMID:Oz-Levi 2012:23176824}" "" "3416delT" "variant on shared haplotype; variant heterozygous in 4/150 Jewish Bukharian controls" "Germline" "yes" "" "0" "" "" "g.102452403del" "" "pathogenic (recessive)" "" "0000698146" "11" "90" "14" "102881058" "102881058" "subst" "0" "00006" "TECPR2_000012" "g.102881058C>T" "" "{PMID:Heimer 2016:26542466}" "" "" "" "Germline" "" "" "0" "" "" "g.102414721C>T" "" "pathogenic (recessive)" "" "0000698147" "21" "90" "14" "102898367" "102898367" "del" "0.000146371" "00006" "TECPR2_000015" "g.102898367del" "" "{PMID:Heimer 2016:26542466}" "" "" "" "Germline" "" "" "0" "" "" "g.102432030del" "" "pathogenic (recessive)" "" "0000698148" "3" "90" "14" "102898367" "102898367" "del" "0.000146371" "00006" "TECPR2_000015" "g.102898367del" "" "{PMID:Heimer 2016:26542466}" "" "" "" "Germline" "" "" "0" "" "" "g.102432030del" "" "pathogenic (recessive)" "" "0000698149" "11" "90" "14" "102898367" "102898367" "del" "0.000146371" "00006" "TECPR2_000015" "g.102898367del" "" "{PMID:Heimer 2016:26542466}" "" "" "" "Germline" "" "" "0" "" "" "g.102432030del" "" "pathogenic (recessive)" "" "0000698150" "21" "90" "14" "102918740" "102918740" "del" "8.25375E-6" "00006" "TECPR2_000017" "g.102918740del" "" "{PMID:Covone 2016:27406698}" "" "" "" "Germline" "" "" "0" "" "" "g.102452403del" "" "pathogenic (recessive)" "" "0000698151" "21" "70" "14" "102906902" "102906902" "subst" "4.06451E-5" "00006" "TECPR2_000016" "g.102906902C>T" "" "{PMID:Covone 2016:27406698}" "" "" "" "Germline" "" "" "0" "" "" "g.102440565C>T" "" "likely pathogenic (recessive)" "" "0000698152" "11" "50" "14" "102901204" "102901204" "subst" "0.0437892" "00006" "TECPR2_000018" "g.102901204C>G" "" "{PMID:Covone 2016:27406698}" "" "" "" "Germline" "" "" "0" "" "" "g.102434867C>G" "" "VUS" "" "0000698153" "11" "90" "14" "102891451" "102891451" "del" "0" "00006" "TECPR2_000013" "g.102891451del" "" "{PMID:Patwari 2020:32209221}" "" "" "" "Germline" "" "" "0" "" "" "g.102425114del" "" "pathogenic (recessive)" "" "0000698154" "21" "90" "14" "102894663" "102894667" "del" "0" "00006" "TECPR2_000014" "g.102894663_102894667del" "" "{PMID:Zhu 2015:25590979}" "" "" "" "Germline" "" "" "0" "" "" "g.102428326_102428330del" "" "pathogenic (recessive)" "" "0000698155" "3" "90" "14" "102898367" "102898367" "del" "0.000146371" "00006" "TECPR2_000015" "g.102898367del" "" "{PMID:Zhu 2015:25590979}" "" "" "" "Germline" "" "" "0" "" "" "g.102432030del" "" "pathogenic (recessive)" "" "0000724621" "0" "50" "14" "102891495" "102891495" "subst" "0.000134001" "01943" "CINP_000002" "g.102891495G>A" "" "" "" "TECPR2(NM_014844.3):c.818G>A (p.(Arg273His)), TECPR2(NM_014844.4):c.818G>A (p.R273H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724622" "0" "50" "14" "102898460" "102898462" "dup" "0" "01943" "CINP_000003" "g.102898460_102898462dup" "" "" "" "TECPR2(NM_014844.4):c.1412_1414dupAGA (p.K471dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724623" "0" "50" "14" "102901551" "102901551" "subst" "5.07967E-5" "01943" "CINP_000004" "g.102901551A>G" "" "" "" "TECPR2(NM_014844.4):c.2394+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724624" "0" "50" "14" "102910131" "102910131" "subst" "6.2188E-5" "01943" "CINP_000005" "g.102910131C>T" "" "" "" "TECPR2(NM_014844.4):c.2900C>T (p.P967L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806246" "0" "30" "14" "102900831" "102900831" "subst" "6.36886E-5" "01943" "CINP_000006" "g.102900831T>C" "" "" "" "TECPR2(NM_014844.4):c.1677T>C (p.S559=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806247" "0" "50" "14" "102900970" "102900970" "subst" "0" "01943" "CINP_000007" "g.102900970G>C" "" "" "" "TECPR2(NM_014844.4):c.1816G>C (p.D606H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806248" "0" "30" "14" "102910102" "102910102" "subst" "1.63213E-5" "01943" "CINP_000008" "g.102910102G>A" "" "" "" "TECPR2(NM_014844.4):c.2871G>A (p.L957=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806249" "0" "30" "14" "102912269" "102912269" "subst" "5.68972E-5" "01943" "TECPR2_000049" "g.102912269C>T" "" "" "" "TECPR2(NM_014844.4):c.3060C>T (p.D1020=), TECPR2(NM_014844.5):c.3060C>T (p.D1020=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806250" "0" "30" "14" "102916136" "102916136" "subst" "4.46693E-5" "01943" "CINP_000009" "g.102916136G>C" "" "" "" "TECPR2(NM_014844.4):c.3246G>C (p.G1082=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806251" "0" "30" "14" "102918974" "102918974" "subst" "2.32307E-5" "01943" "CINP_000010" "g.102918974C>T" "" "" "" "TECPR2(NM_014844.4):c.3640+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853710" "0" "50" "14" "102904455" "102904455" "subst" "5.68902E-5" "01943" "CINP_000012" "g.102904455G>T" "" "" "" "TECPR2(NM_014844.4):c.2491G>T (p.G831C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863429" "0" "30" "14" "102901135" "102901135" "subst" "0.000641403" "01943" "CINP_000011" "g.102901135G>A" "" "" "" "TECPR2(NM_014844.4):c.1981G>A (p.E661K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863430" "0" "30" "14" "102964007" "102964007" "subst" "1.71945E-5" "02326" "CINP_000013" "g.102964007C>T" "" "" "" "TECPR2(NM_014844.5):c.4032C>T (p.P1344=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914132" "0" "30" "14" "102898308" "102898308" "subst" "0.000616117" "02326" "CINP_000014" "g.102898308C>T" "" "" "" "TECPR2(NM_014844.5):c.1260C>T (p.S420=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930261" "0" "30" "14" "102964447" "102964447" "subst" "0.00153073" "02326" "TECPR2_000008" "g.102964447G>A" "" "" "" "TECPR2(NM_014844.4):c.4089G>A (p.A1363=), TECPR2(NM_014844.5):c.4089G>A (p.A1363=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000960238" "3" "50" "14" "102963981" "102963981" "subst" "5.14183E-5" "00006" "TECPR2_000064" "g.102963981C>T" "" "{PMID:Neuser 2021:33847017}, {PMID:Poli 2024:38177409}" "" "" "" "Germline" "" "" "0" "" "" "g.102497644C>T" "996005" "VUS" "" "0000960298" "3" "90" "14" "102918740" "102918740" "del" "8.25375E-6" "00006" "TECPR2_000017" "g.102918740del" "" "{PMID:Oz-Levi 2012:23176824}, {PMID:Neuser 2021:33847017}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102452403del" "" "pathogenic (recessive)" "" "0000960299" "3" "90" "14" "102910060" "102910060" "del" "0" "00006" "TECPR2_000063" "g.102910060del" "" "{PMID:Neuser 2021:33847017}" "" "" "" "Germline" "" "" "0" "" "" "g.102443723del" "" "pathogenic (recessive)" "" "0000960300" "3" "90" "14" "102898367" "102898367" "del" "0.000146371" "00006" "TECPR2_000015" "g.102898367del" "" "{PMID:Neuser 2021:33847017}" "" "" "" "Germline" "" "" "0" "" "" "g.102432030del" "" "pathogenic (recessive)" "" "0000960301" "11" "70" "14" "102891392" "102891392" "subst" "6.49736E-5" "00006" "TECPR2_000057" "g.102891392G>A" "" "{PMID:Neuser 2021:33847017}" "" "" "" "Germline" "" "" "0" "" "" "g.102425055G>A" "" "VUS" "" "0000960302" "3" "90" "14" "102898367" "102898367" "del" "0.000146371" "00006" "TECPR2_000015" "g.102898367del" "" "{PMID:Neuser 2021:33847017}" "" "" "" "Germline" "" "" "0" "" "" "g.102432030del" "" "pathogenic (recessive)" "" "0000960303" "3" "90" "14" "102898367" "102898367" "del" "0.000146371" "00006" "TECPR2_000015" "g.102898367del" "" "{PMID:Neuser 2021:33847017}" "" "" "" "Germline" "" "" "0" "" "" "g.102432030del" "" "pathogenic (recessive)" "" "0000960304" "3" "70" "14" "102918742" "102918742" "subst" "0" "00006" "TECPR2_000059" "g.102918742T>G" "" "{PMID:Neuser 2021:33847017}" "" "" "" "Germline" "" "" "0" "" "" "g.102452405T>G" "" "VUS" "" "0000960305" "3" "70" "14" "102912207" "102912207" "subst" "0" "00006" "TECPR2_000061" "g.102912207G>T" "" "{PMID:Neuser 2021:33847017}" "" "" "" "Germline" "" "" "0" "" "" "g.102445870G>T" "" "VUS" "" "0000960306" "3" "70" "14" "102912207" "102912207" "subst" "0" "00006" "TECPR2_000061" "g.102912207G>T" "" "{PMID:Neuser 2021:33847017}" "" "" "" "Germline" "" "" "0" "" "" "g.102445870G>T" "" "VUS" "" "0000960307" "3" "90" "14" "102898367" "102898367" "del" "0.000146371" "00006" "TECPR2_000015" "g.102898367del" "" "{PMID:Neuser 2021:33847017}" "" "" "" "Germline" "" "" "0" "" "" "g.102432030del" "" "pathogenic (recessive)" "" "0000960308" "21" "90" "14" "102898367" "102898367" "del" "0.000146371" "00006" "TECPR2_000015" "g.102898367del" "" "{PMID:Neuser 2021:33847017}" "" "" "" "Germline" "" "" "0" "" "" "g.102432030del" "" "pathogenic (recessive)" "" "0000960309" "3" "90" "14" "102918740" "102918740" "del" "8.25375E-6" "00006" "TECPR2_000017" "g.102918740del" "" "{PMID:Neuser 2021:33847017}" "" "" "" "Germline" "" "" "0" "" "" "g.102452403del" "" "pathogenic (recessive)" "" "0000960310" "3" "90" "14" "102918740" "102918740" "del" "8.25375E-6" "00006" "TECPR2_000017" "g.102918740del" "" "{PMID:Neuser 2021:33847017}" "" "" "" "Germline" "" "" "0" "" "" "g.102452403del" "" "pathogenic (recessive)" "" "0000960311" "3" "90" "14" "102964461" "102964461" "subst" "0" "00006" "TECPR2_000065" "g.102964461G>A" "" "{PMID:Neuser 2021:33847017}" "" "" "" "Germline" "" "" "0" "" "" "g.102498124G>A" "" "pathogenic (recessive)" "" "0000960312" "3" "90" "14" "102964461" "102964461" "subst" "0" "00006" "TECPR2_000065" "g.102964461G>A" "" "{PMID:Neuser 2021:33847017}" "" "" "" "Germline" "" "" "0" "" "" "g.102498124G>A" "" "pathogenic (recessive)" "" "0000960313" "3" "90" "14" "102891371" "102891371" "dup" "0" "00006" "TECPR2_000062" "g.102891371dup" "" "{PMID:Neuser 2021:33847017}" "" "" "" "Germline" "" "" "0" "" "" "g.102425034dup" "" "pathogenic (recessive)" "" "0000960314" "21" "70" "14" "102964008" "102964008" "subst" "0" "00006" "TECPR2_000058" "g.102964008G>C" "" "{PMID:Neuser 2021:33847017}" "" "" "" "Germline" "" "" "0" "" "" "g.102497671G>C" "" "VUS" "" "0000960315" "11" "90" "14" "102963356" "102963356" "del" "0" "00006" "TECPR2_000060" "g.102963356del" "" "{PMID:Neuser 2021:33847017}" "" "" "" "Germline" "" "" "0" "" "" "g.102497019del" "" "pathogenic (recessive)" "" "0000980746" "0" "30" "14" "102894581" "102894582" "del" "0" "02325" "CINP_000015" "g.102894581_102894582del" "" "" "" "TECPR2(NM_014844.5):c.952-6_952-5delTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980747" "0" "50" "14" "102906887" "102906887" "subst" "0" "01804" "CINP_000016" "g.102906887C>G" "" "" "" "TECPR2(NM_014844.5):c.2693C>G (p.(Ala898Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980748" "0" "50" "14" "102910115" "102910115" "subst" "2.46297E-5" "01804" "CINP_000017" "g.102910115G>A" "" "" "" "TECPR2(NM_014844.5):c.2884G>A (p.(Val962Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980749" "0" "50" "14" "102916966" "102916966" "subst" "0.000272119" "01804" "TECPR2_000005" "g.102916966C>A" "" "" "" "TECPR2(NM_014844.4):c.3386C>A (p.S1129Y), TECPR2(NM_014844.5):c.3386C>A (p.(Ser1129Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000681" "0" "50" "14" "102843158" "102843158" "subst" "8.12189E-6" "01804" "TECPR2_000022" "g.102843158A>G" "" "" "" "TECPR2(NM_014844.3):c.100A>G (p.(Ile34Val)), TECPR2(NM_014844.4):c.100A>G (p.I34V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000682" "0" "50" "14" "102891495" "102891495" "subst" "0.000134001" "01804" "CINP_000002" "g.102891495G>A" "" "" "" "TECPR2(NM_014844.3):c.818G>A (p.(Arg273His)), TECPR2(NM_014844.4):c.818G>A (p.R273H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000683" "0" "30" "14" "102900806" "102900806" "subst" "6.1055E-5" "01804" "CINP_000018" "g.102900806A>G" "" "" "" "TECPR2(NM_014844.3):c.1652A>G (p.(Glu551Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000684" "0" "10" "14" "102964008" "102964008" "subst" "0.000885488" "02326" "CINP_000019" "g.102964008G>A" "" "" "" "TECPR2(NM_014844.5):c.4033G>A (p.A1345T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001015108" "0" "30" "14" "102912302" "102912302" "subst" "0.000892636" "02326" "CINP_000020" "g.102912302C>T" "" "" "" "TECPR2(NM_014844.5):c.3075+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015109" "0" "50" "14" "102916087" "102916087" "subst" "1.21824E-5" "02325" "CINP_000021" "g.102916087G>A" "" "" "" "TECPR2(NM_014844.5):c.3197G>A (p.R1066H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015110" "0" "30" "14" "102963298" "102963298" "subst" "0.000849036" "02326" "CINP_000022" "g.102963298G>C" "" "" "" "TECPR2(NM_014844.5):c.3790-18G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046459" "0" "50" "14" "102910058" "102910058" "subst" "5.29019E-5" "02325" "CINP_000023" "g.102910058C>T" "" "" "" "TECPR2(NM_014844.5):c.2827C>T (p.R943W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes TECPR2 ## Count = 122 "{{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}}" "0000255056" "00020955" "30" "622" "0" "622" "0" "c.622A>G" "r.(?)" "p.(Thr208Ala)" "" "0000316427" "00020955" "30" "2664" "0" "2664" "0" "c.2664C>T" "r.(?)" "p.(Tyr888=)" "" "0000316428" "00020955" "30" "2752" "7" "2752" "7" "c.2752+7G>A" "r.(=)" "p.(=)" "" "0000316429" "00020955" "10" "2941" "0" "2941" "0" "c.2941C>A" "r.(?)" "p.(Gln981Lys)" "" "0000316430" "00020955" "50" "3386" "0" "3386" "0" "c.3386C>A" "r.(?)" "p.(Ser1129Tyr)" "" "0000316431" "00020955" "50" "4036" "0" "4036" "0" "c.4036G>A" "r.(?)" "p.(Gly1346Arg)" "" "0000316432" "00020955" "30" "4081" "8" "4081" "8" "c.4081+8C>A" "r.(=)" "p.(=)" "" "0000316433" "00020955" "30" "4089" "0" "4089" "0" "c.4089G>A" "r.(?)" "p.(Ala1363=)" "" "0000344628" "00020955" "70" "571" "0" "571" "0" "c.571C>T" "r.(?)" "p.(Gln191Ter)" "" "0000405128" "00020955" "00" "219" "2590" "219" "2590" "c.219+2590G>A" "r.(=)" "p.(=)" "" "0000405129" "00020955" "00" "219" "2590" "219" "2590" "c.219+2590G>A" "r.(=)" "p.(=)" "" "0000551238" "00020955" "10" "-20" "0" "-20" "0" "c.-20A>C" "r.(?)" "p.(=)" "" "0000551239" "00020955" "10" "-2" "0" "-2" "0" "c.-2C>T" "r.(?)" "p.(=)" "" "0000551240" "00020955" "50" "71" "0" "71" "0" "c.71C>T" "r.(?)" "p.(Pro24Leu)" "" "0000551241" "00020955" "30" "100" "0" "100" "0" "c.100A>G" "r.(?)" "p.(Ile34Val)" "" "0000551242" "00020955" "50" "173" "0" "173" "0" "c.173A>G" "r.(?)" "p.(Tyr58Cys)" "" "0000551243" "00020955" "30" "348" "0" "348" "0" "c.348G>T" "r.(?)" "p.(Gln116His)" "" "0000551244" "00020955" "50" "413" "0" "413" "0" "c.413A>G" "r.(?)" "p.(Asn138Ser)" "" "0000551245" "00020955" "30" "606" "0" "606" "0" "c.606T>C" "r.(?)" "p.(Ser202=)" "" "0000551246" "00020955" "10" "951" "18" "951" "18" "c.951+18A>G" "r.(=)" "p.(=)" "" "0000551247" "00020955" "30" "952" "-5" "952" "-5" "c.952-5G>A" "r.spl?" "p.?" "" "0000551248" "00020955" "10" "958" "0" "958" "0" "c.958G>A" "r.(?)" "p.(Val320Ile)" "" "0000551249" "00020955" "30" "987" "0" "987" "0" "c.987T>C" "r.(?)" "p.(Ile329=)" "" "0000551250" "00020955" "10" "1156" "0" "1156" "0" "c.1156G>A" "r.(?)" "p.(Ala386Thr)" "" "0000551251" "00020955" "30" "1198" "0" "1198" "0" "c.1198A>G" "r.(?)" "p.(Ser400Gly)" "" "0000551252" "00020955" "10" "1315" "0" "1315" "0" "c.1315C>T" "r.(?)" "p.(Pro439Ser)" "" "0000551253" "00020955" "10" "1614" "0" "1614" "0" "c.1614A>G" "r.(?)" "p.(Pro538=)" "" "0000551254" "00020955" "30" "1644" "0" "1644" "0" "c.1644T>G" "r.(?)" "p.(Asn548Lys)" "" "0000551255" "00020955" "30" "1644" "0" "1644" "0" "c.1644T>G" "r.(?)" "p.(Asn548Lys)" "" "0000551256" "00020955" "50" "1784" "0" "1784" "0" "c.1784C>T" "r.(?)" "p.(Thr595Met)" "" "0000551257" "00020955" "10" "1802" "0" "1802" "0" "c.1802C>T" "r.(?)" "p.(Pro601Leu)" "" "0000551259" "00020955" "10" "1869" "0" "1869" "0" "c.1869G>A" "r.(?)" "p.(Gly623=)" "" "0000551260" "00020955" "10" "2047" "0" "2047" "0" "c.2047A>G" "r.(?)" "p.(Ile683Val)" "" "0000551261" "00020955" "10" "2050" "0" "2050" "0" "c.2050C>G" "r.(?)" "p.(Leu684Val)" "" "0000551262" "00020955" "30" "2176" "0" "2176" "0" "c.2176A>G" "r.(?)" "p.(Thr726Ala)" "" "0000551263" "00020955" "30" "2307" "0" "2307" "0" "c.2307G>A" "r.(?)" "p.(Thr769=)" "" "0000551264" "00020955" "50" "2449" "0" "2449" "0" "c.2449G>A" "r.(?)" "p.(Val817Met)" "" "0000551265" "00020955" "10" "2578" "30" "2578" "42" "c.2578+30_2578+42del" "r.(=)" "p.(=)" "" "0000551266" "00020955" "50" "2734" "0" "2734" "0" "c.2734G>T" "r.(?)" "p.(Asp912Tyr)" "" "0000551267" "00020955" "10" "2760" "0" "2760" "0" "c.2760C>T" "r.(?)" "p.(Ser920=)" "" "0000551268" "00020955" "30" "2829" "0" "2829" "0" "c.2829G>A" "r.(?)" "p.(Arg943=)" "" "0000551270" "00020955" "30" "2939" "0" "2939" "0" "c.2939G>C" "r.(?)" "p.(Arg980Thr)" "" "0000551271" "00020955" "10" "2941" "0" "2941" "0" "c.2941C>A" "r.(?)" "p.(Gln981Lys)" "" "0000551272" "00020955" "30" "3060" "0" "3060" "0" "c.3060C>T" "r.(?)" "p.(Asp1020=)" "" "0000551273" "00020955" "50" "3250" "0" "3250" "0" "c.3250A>C" "r.(?)" "p.(Asn1084His)" "" "0000551274" "00020955" "30" "3275" "0" "3275" "0" "c.3275C>T" "r.(?)" "p.(Ser1092Leu)" "" "0000551275" "00020955" "30" "3275" "0" "3275" "0" "c.3275C>T" "r.(?)" "p.(Ser1092Leu)" "" "0000551276" "00020955" "50" "3420" "0" "3420" "0" "c.3420G>A" "r.(?)" "p.(Trp1140Ter)" "" "0000551277" "00020955" "30" "3451" "0" "3451" "0" "c.3451G>A" "r.(?)" "p.(Val1151Ile)" "" "0000551278" "00020955" "10" "3465" "0" "3465" "0" "c.3465C>A" "r.(?)" "p.(Ser1155Arg)" "" "0000648822" "00020955" "30" "952" "-18" "952" "-18" "c.952-18T>G" "r.(=)" "p.(=)" "" "0000648823" "00020955" "10" "1315" "0" "1315" "0" "c.1315C>T" "r.(?)" "p.(Pro439Ser)" "" "0000648824" "00020955" "10" "1802" "0" "1802" "0" "c.1802C>T" "r.(?)" "p.(Pro601Leu)" "" "0000648825" "00020955" "10" "2941" "0" "2941" "0" "c.2941C>A" "r.(?)" "p.(Gln981Lys)" "" "0000648826" "00020955" "30" "3275" "0" "3275" "0" "c.3275C>T" "r.(?)" "p.(Ser1092Leu)" "" "0000657335" "00020955" "50" "2260" "0" "2260" "0" "c.2260G>A" "r.(?)" "p.(Glu754Lys)" "" "0000663626" "00020955" "50" "1644" "0" "1644" "0" "c.1644T>G" "r.(?)" "p.(Asn548Lys)" "" "0000663627" "00020955" "50" "3275" "0" "3275" "0" "c.3275C>T" "r.(?)" "p.(Ser1092Leu)" "" "0000669234" "00020955" "10" "1315" "0" "1315" "0" "c.1315C>T" "r.(?)" "p.(Pro439Ser)" "" "0000669235" "00020955" "10" "1802" "0" "1802" "0" "c.1802C>T" "r.(?)" "p.(Pro601Leu)" "" "0000679876" "00020955" "50" "3610" "0" "3610" "0" "c.3610C>T" "r.(?)" "p.(His1204Tyr)" "" "0000683583" "00020955" "70" "571" "0" "571" "0" "c.571C>T" "r.(?)" "p.(Gln191*)" "" "0000698142" "00020955" "90" "3416" "0" "3416" "0" "c.3416del" "r.(?)" "p.(Leu1139Argfs*75)" "" "0000698143" "00020955" "90" "3416" "0" "3416" "0" "c.3416del" "r.(?)" "p.(Leu1139Argfs*75)" "" "0000698144" "00020955" "90" "3416" "0" "3416" "0" "c.3416del" "r.(?)" "p.(Leu1139Argfs*75)" "" "0000698145" "00020955" "90" "3416" "0" "3416" "0" "c.3416del" "r.(?)" "p.(Leu1139Argfs*75)" "" "0000698146" "00020955" "90" "566" "0" "566" "0" "c.566C>T" "r.(?)" "p.(Thr189Ile)" "" "0000698147" "00020955" "90" "1319" "0" "1319" "0" "c.1319del" "r.(?)" "p.(Leu440Argfs*19)" "" "0000698148" "00020955" "90" "1319" "0" "1319" "0" "c.1319del" "r.(?)" "p.(Leu440Argfs*19)" "" "0000698149" "00020955" "90" "1319" "0" "1319" "0" "c.1319del" "r.(?)" "p.(Leu440Argfs*19)" "" "0000698150" "00020955" "90" "3416" "0" "3416" "0" "c.3416del" "r.(?)" "p.(Leu1139Argfs*75)" "" "0000698151" "00020955" "70" "2708" "0" "2708" "0" "c.2708C>T" "r.(?)" "p.(Thr903Met)" "" "0000698152" "00020955" "50" "2050" "0" "2050" "0" "c.2050C>G" "r.(?)" "p.(Leu684Val)" "" "0000698153" "00020955" "90" "774" "0" "774" "0" "c.774del" "r.(?)" "p.(Asp259Metfs*44)" "" "0000698154" "00020955" "90" "1028" "0" "1032" "0" "c.1028_1032del" "r.(?)" "p.(Lys343Argfs*2)" "" "0000698155" "00020955" "90" "1319" "0" "1319" "0" "c.1319del" "r.(?)" "p.(Leu440Argfs*19)" "" "0000724621" "00020955" "50" "818" "0" "818" "0" "c.818G>A" "r.(?)" "p.(Arg273His)" "" "0000724622" "00020955" "50" "1412" "0" "1414" "0" "c.1412_1414dup" "r.(?)" "p.(Lys471dup)" "" "0000724623" "00020955" "50" "2394" "3" "2394" "3" "c.2394+3A>G" "r.spl?" "p.?" "" "0000724624" "00020955" "50" "2900" "0" "2900" "0" "c.2900C>T" "r.(?)" "p.(Pro967Leu)" "" "0000806246" "00020955" "30" "1677" "0" "1677" "0" "c.1677T>C" "r.(?)" "p.(Ser559=)" "" "0000806247" "00020955" "50" "1816" "0" "1816" "0" "c.1816G>C" "r.(?)" "p.(Asp606His)" "" "0000806248" "00020955" "30" "2871" "0" "2871" "0" "c.2871G>A" "r.(?)" "p.(Leu957=)" "" "0000806249" "00020955" "30" "3060" "0" "3060" "0" "c.3060C>T" "r.(?)" "p.(Asp1020=)" "" "0000806250" "00020955" "30" "3246" "0" "3246" "0" "c.3246G>C" "r.(?)" "p.(Gly1082=)" "" "0000806251" "00020955" "30" "3640" "10" "3640" "10" "c.3640+10C>T" "r.(=)" "p.(=)" "" "0000853710" "00020955" "50" "2491" "0" "2491" "0" "c.2491G>T" "r.(?)" "p.(Gly831Cys)" "" "0000863429" "00020955" "30" "1981" "0" "1981" "0" "c.1981G>A" "r.(?)" "p.(Glu661Lys)" "" "0000863430" "00020955" "30" "4032" "0" "4032" "0" "c.4032C>T" "r.(?)" "p.(Pro1344=)" "" "0000914132" "00020955" "30" "1260" "0" "1260" "0" "c.1260C>T" "r.(?)" "p.(Ser420=)" "" "0000930261" "00020955" "30" "4089" "0" "4089" "0" "c.4089G>A" "r.(?)" "p.(Ala1363=)" "" "0000960238" "00020955" "50" "4006" "0" "4006" "0" "c.4006C>T" "r.(?)" "p.(Arg1336Trp)" "" "0000960298" "00020955" "90" "3416" "0" "3416" "0" "c.3416del" "r.(?)" "p.(Leu1139Argfs*75)" "" "0000960299" "00020955" "90" "2829" "0" "2829" "0" "c.2829del" "r.(?)" "p.(Asn944ThrfsTer7)" "12" "0000960300" "00020955" "90" "1319" "0" "1319" "0" "c.1319del" "r.(?)" "p.(Leu440ArgfsTer19)" "8" "0000960301" "00020955" "70" "715" "0" "715" "0" "c.715G>A" "r.(?)" "p.(Gly239Arg)" "6" "0000960302" "00020955" "90" "1319" "0" "1319" "0" "c.1319del" "r.(?)" "p.(Leu440ArgfsTer19)" "8" "0000960303" "00020955" "90" "1319" "0" "1319" "0" "c.1319del" "r.(?)" "p.(Leu440ArgfsTer19)" "8" "0000960304" "00020955" "70" "3418" "0" "3418" "0" "c.3418T>G" "r.(?)" "p.(Trp1140Gly)" "16" "0000960305" "00020955" "70" "2998" "0" "2998" "0" "c.2998G>T" "r.(?)" "p.(Asp1000Tyr)" "13" "0000960306" "00020955" "70" "2998" "0" "2998" "0" "c.2998G>T" "r.(?)" "p.(Asp1000Tyr)" "13" "0000960307" "00020955" "90" "1319" "0" "1319" "0" "c.1319del" "r.(?)" "p.(Leu440ArgfsTer19)" "8" "0000960308" "00020955" "90" "1319" "0" "1319" "0" "c.1319del" "r.(?)" "p.(Leu440ArgfsTer19)" "8" "0000960309" "00020955" "90" "3416" "0" "3416" "0" "c.3416del" "r.(?)" "p.(Leu1139ArgfsTer75)" "16" "0000960310" "00020955" "90" "3416" "0" "3416" "0" "c.3416del" "r.(?)" "p.(Leu1139ArgfsTer75)" "16" "0000960311" "00020955" "90" "4103" "0" "4103" "0" "c.4103G>A" "r.(?)" "p.(Trp1368Ter)" "20" "0000960312" "00020955" "90" "4103" "0" "4103" "0" "c.4103G>A" "r.(?)" "p.(Trp1368Ter)" "20" "0000960313" "00020955" "90" "694" "0" "694" "0" "c.694dup" "r.(?)" "p.(Thr232AsnfsTer15)" "6" "0000960314" "00020955" "70" "4033" "0" "4033" "0" "c.4033G>C" "r.(?)" "p.(Ala1345Pro)" "19" "0000960315" "00020955" "90" "3830" "0" "3830" "0" "c.3830del" "r.(?)" "p.(Asn1277ThrfsTer43)" "18" "0000980746" "00020955" "30" "952" "-6" "952" "-5" "c.952-6_952-5del" "r.spl?" "p.?" "" "0000980747" "00020955" "50" "2693" "0" "2693" "0" "c.2693C>G" "r.(?)" "p.(Ala898Gly)" "" "0000980748" "00020955" "50" "2884" "0" "2884" "0" "c.2884G>A" "r.(?)" "p.(Val962Met)" "" "0000980749" "00020955" "50" "3386" "0" "3386" "0" "c.3386C>A" "r.(?)" "p.(Ser1129Tyr)" "" "0001000681" "00020955" "50" "100" "0" "100" "0" "c.100A>G" "r.(?)" "p.(Ile34Val)" "" "0001000682" "00020955" "50" "818" "0" "818" "0" "c.818G>A" "r.(?)" "p.(Arg273His)" "" "0001000683" "00020955" "30" "1652" "0" "1652" "0" "c.1652A>G" "r.(?)" "p.(Glu551Gly)" "" "0001000684" "00020955" "10" "4033" "0" "4033" "0" "c.4033G>A" "r.(?)" "p.(Ala1345Thr)" "" "0001015108" "00020955" "30" "3075" "18" "3075" "18" "c.3075+18C>T" "r.(=)" "p.(=)" "" "0001015109" "00020955" "50" "3197" "0" "3197" "0" "c.3197G>A" "r.(?)" "p.(Arg1066His)" "" "0001015110" "00020955" "30" "3790" "-18" "3790" "-18" "c.3790-18G>C" "r.(=)" "p.(=)" "" "0001046459" "00020955" "50" "2827" "0" "2827" "0" "c.2827C>T" "r.(?)" "p.(Arg943Trp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 45 "{{screeningid}}" "{{variantid}}" "0000181432" "0000405128" "0000181433" "0000405129" "0000292133" "0000648822" "0000292134" "0000648823" "0000292135" "0000648824" "0000292136" "0000648825" "0000292137" "0000648826" "0000300751" "0000663626" "0000300751" "0000663627" "0000305546" "0000669234" "0000305547" "0000669235" "0000309120" "0000683583" "0000316021" "0000698142" "0000316022" "0000698143" "0000316023" "0000698144" "0000316024" "0000698145" "0000316025" "0000698146" "0000316025" "0000698147" "0000316026" "0000698148" "0000316027" "0000698149" "0000316027" "0000698150" "0000316028" "0000698151" "0000316028" "0000698152" "0000316029" "0000698153" "0000316029" "0000698154" "0000316030" "0000698155" "0000449755" "0000960238" "0000449801" "0000960298" "0000449802" "0000960299" "0000449803" "0000960300" "0000449804" "0000960301" "0000449804" "0000960314" "0000449805" "0000960302" "0000449806" "0000960303" "0000449807" "0000960304" "0000449808" "0000960305" "0000449809" "0000960306" "0000449810" "0000960307" "0000449811" "0000960308" "0000449811" "0000960315" "0000449812" "0000960309" "0000449813" "0000960310" "0000449814" "0000960311" "0000449815" "0000960312" "0000449816" "0000960313"