### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = QRICH1) # 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}}" "QRICH1" "glutamine-rich 1" "3" "p21.31" "unknown" "NC_000003.11" "UD_132464499637" "" "https://www.LOVD.nl/QRICH1" "" "1" "24713" "54870" "617387" "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/QRICH1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-05-28 08:23:11" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00017250" "QRICH1" "transcript variant 1" "002" "NM_017730.2" "" "NP_060200.2" "" "" "" "-241" "3074" "2331" "49131504" "49067142" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04184" "stature, short" "stature, short" "" "" "" "" "" "00006" "2015-02-09 15:44:22" "00006" "2015-02-09 15:45:17" "05943" "VERBRAS" "Ververi-Brady syndrome syndrome (VERBRAS)" "AD" "617982" "" "" "" "00006" "2021-05-28 08:24:21" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "QRICH1" "05943" ## 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}}" "00374999" "" "" "" "1" "" "00006" "{PMID:Ververi 2018:28692176}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Decipher276551" "00375000" "" "" "" "1" "" "00006" "{PMID:Ververi 2018:28692176}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Decipher272334" "00375001" "" "" "" "1" "" "00006" "{PMID:Ververi 2018:28692176}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Decipher270803" "00375002" "" "" "" "1" "" "00006" "{PMID:Lui 2019:30281152}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "" "patient" "00375529" "" "" "" "1" "" "00006" "{PMID:Baruch 2021:33738978}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "Israel" "" "0" "" "" "" "patient" "00375530" "" "" "" "1" "" "00006" "{PMID:Föhrenbach 2021:33009816}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "Germany" "" "0" "" "" "" "Pat1" "00375531" "" "" "" "1" "" "00006" "{PMID:Föhrenbach 2021:33009816}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "Germany" "" "0" "" "" "" "Pat2" "00375532" "" "" "" "1" "" "00006" "{PMID:Föhrenbach 2021:33009816}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "Viet Nam" "" "0" "" "" "" "Pat3" "00375534" "" "" "" "1" "" "00006" "{PMID:Föhrenbach 2021:33009816}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "Germany" "" "0" "" "" "" "Pat4" "00375535" "" "" "" "1" "" "00006" "{PMID:Lui 2019:30281152}" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "DECIPHER?" "00375538" "" "" "" "1" "" "04085" "Tümer 2021, submitted" "patient" "M" "" "" "" "0" "" "" "" "Pat1" "00375539" "" "" "" "1" "" "04085" "Tümer 2021, submitted" "patient" "M" "" "" "" "0" "" "" "" "Pat2" "00375540" "" "" "" "2" "" "04085" "Tümer 2021, submitted" "family, affected father/child" "M" "" "" "" "0" "" "" "" "Pat5" "00375541" "" "" "" "1" "" "04085" "Tümer 2021, submitted" "patient" "F" "" "" "" "0" "" "" "" "Pat6" "00375542" "" "" "" "1" "" "04085" "Tümer 2021, submitted" "patient" "F" "" "" "" "0" "" "" "" "Pat7" "00375543" "" "" "" "1" "" "04085" "Tümer 2021, submitted" "patient" "F" "" "" "" "0" "" "" "" "Pat8" "00375544" "" "" "" "1" "" "04085" "Tümer 2021, submitted" "patient" "M" "" "" "" "0" "" "" "" "Pat10" "00375545" "" "" "" "2" "" "04085" "Tümer 2021, submitted" "family, affected mother/child" "M" "" "" "" "0" "" "" "" "Pat11" "00375546" "" "" "" "2" "" "04085" "Tümer 2021, submitted" "family, affected father/child" "F" "" "" "" "0" "" "" "" "Pat12" "00375547" "" "" "" "1" "" "04085" "Tümer 2021, submitted" "patient" "M" "" "" "" "0" "" "" "" "Pat13" "00375548" "" "" "" "1" "" "04085" "Tümer 2021, submitted" "patient" "M" "" "" "" "0" "" "" "" "Pat14" "00375549" "" "" "" "1" "" "04085" "Tümer 2021, submitted" "patient" "M" "" "" "" "0" "" "" "" "Pat15" "00375550" "" "" "" "1" "" "04085" "Tümer 2021, submitted" "patient" "F" "" "" "" "0" "" "" "" "Pat16" "00375551" "" "" "" "1" "" "04085" "Tümer 2021, submitted" "patient" "F" "" "" "" "0" "" "" "" "Pat17" "00375552" "" "" "" "1" "" "04085" "Tümer 2021, submitted" "patient" "F" "" "" "" "0" "" "" "" "Pat18" "00375553" "" "" "" "1" "" "04085" "Tümer 2021, submitted" "patient" "F" "" "" "" "0" "" "" "" "Pat19" "00375554" "" "" "" "1" "" "04085" "Tümer 2021, submitted" "patient" "M" "" "" "" "0" "" "" "" "Pat21" "00375555" "" "" "" "1" "" "04085" "Tümer 2021, submitted" "patient" "M" "" "" "" "0" "" "" "" "Pat23" "00375556" "" "" "" "1" "" "04085" "Tümer 2021, submitted" "patient" "F" "" "" "" "0" "" "" "" "Pat24" "00375557" "" "" "" "2" "" "04085" "Tümer 2021, submitted" "family, affected father/child" "M" "" "" "" "0" "" "" "" "Pat25" "00375558" "" "" "" "1" "" "04085" "Tümer 2021, submitted" "patient" "M" "" "" "" "0" "" "" "" "Pat26" "00375559" "" "" "" "1" "" "04085" "Tümer 2021, submitted" "patient" "M" "" "" "" "0" "" "" "" "Pat27" "00375560" "" "" "" "1" "" "04085" "Tümer 2021, submitted" "patient" "M" "" "" "" "0" "" "" "" "Pat28" "00375561" "" "" "" "1" "" "04085" "Tümer 2021, submitted" "patient" "M" "" "" "" "0" "" "" "" "Pat30" "00375562" "" "" "" "1" "" "04085" "Tümer 2021, submitted" "patient" "F" "" "" "" "0" "" "" "" "Pat31" "00375563" "" "" "" "1" "" "04085" "Tümer 2021, submitted" "patient" "F" "" "" "" "0" "" "" "" "Pat33" "00375564" "" "" "" "1" "" "04085" "Tümer 2021, submitted" "patient" "F" "" "" "" "0" "" "" "" "Pat34" "00375565" "" "" "" "1" "" "04085" "Tümer 2021, submitted" "patient" "M" "" "" "" "0" "" "" "" "Pat38" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 38 "{{individualid}}" "{{diseaseid}}" "00374999" "05943" "00375000" "05943" "00375001" "05943" "00375002" "04184" "00375529" "00198" "00375530" "00198" "00375531" "00198" "00375532" "00198" "00375534" "00198" "00375535" "00198" "00375538" "00198" "00375539" "00198" "00375540" "00198" "00375541" "00198" "00375542" "00198" "00375543" "00198" "00375544" "00198" "00375545" "00198" "00375546" "00198" "00375547" "00198" "00375548" "00198" "00375549" "00198" "00375550" "00198" "00375551" "00198" "00375552" "00198" "00375553" "00198" "00375554" "00198" "00375555" "00198" "00375556" "00198" "00375557" "00198" "00375558" "00198" "00375559" "00198" "00375560" "00198" "00375561" "00198" "00375562" "00198" "00375563" "00198" "00375564" "00198" "00375565" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 04184, 05943 ## Count = 38 "{{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}}" "0000270209" "05943" "00374999" "00006" "Isolated (sporadic)" "08y" "see paper; ..., birth 40w, weight 3.8 kg (75th centile); height 122.7cm (9th-25th), weight 23.3kg (25th), OFCcm 51 (10th); flat malar region, prominent nose, smooth philtrum, wide mouth, thin upper lip, protruberant lower lip; mild developmental delay/intellectual disability; walk-14m; speech first words 24-30m; autism; no raised CK" "" "" "" "" "" "" "" "" "VERBRAS" "Ververi-Brady syndrome" "" "0000270210" "05943" "00375000" "00006" "Isolated (sporadic)" "14y06m" "see paper; ..., birth 40w, weight 2.8 kg (2nd-9th centile); height 157cm (25th), weight 40.3kg (2nd-9th), OFC 55.5cm (50th-75th); bilateral ptosis, mild hypertelorism, prominent nose, thin upper lip, wide mouth; moderate developmental delay/intellectual disability; walk-24m; speech first words 24m; no autism; 2y-raised CK 440 U/L" "" "" "" "" "" "" "" "" "VERBRAS" "Ververi-Brady syndrome" "" "0000270211" "05943" "00375001" "00006" "Isolated (sporadic)" "09y04m" "see paper; ..., birth 38w, weight 2.4 kg (2nd-9th centile); height 114.4cm (−3 SD), weight 17.7kg (−4 SD), OFC 46cm (−6 SD); brachycephaly, upslanting palpebral fissures, prominent broad nose, broad nasal tip, wide mouth, thin upper lip, low-set cup-shaped ears; mild developmental delay/intellectual disability; walk-22m; speech first words 24-30m; no autism; 18m-raised CK 444 U/L" "" "" "" "" "" "" "" "" "VERBRAS" "Ververi-Brady syndrome" "" "0000270212" "04184" "00375002" "00006" "Isolated (sporadic)" "08y" "see paper; ..." "" "" "" "" "" "" "" "" "" "short stature" "" "0000270743" "00198" "00375529" "00006" "Isolated (sporadic)" "04y" "see paper; ..., maladaptive behavior, sensory hypersensitivity, slow linear growth, hyperactive, distractible, impulsive, inattentive; speech, initially delayed, is fair, verbal comprehension age adequate" "" "" "" "" "" "" "" "" "VERBRAS" "" "" "0000270744" "00198" "00375530" "00006" "Isolated (sporadic)" "02y09m" "see paper; ..." "" "" "" "" "" "" "" "" "VERBRAS" "" "" "0000270745" "00198" "00375531" "00006" "Isolated (sporadic)" "11y" "see paper; ..." "" "" "" "" "" "" "" "" "VERBRAS" "" "" "0000270746" "00198" "00375532" "00006" "Isolated (sporadic)" "05y05m" "see paper; ..." "" "" "" "" "" "" "" "" "VERBRAS" "" "" "0000270748" "00198" "00375534" "00006" "Isolated (sporadic)" "12y06m" "see paper; ..." "" "" "" "" "" "" "" "" "VERBRAS" "" "" "0000270749" "00198" "00375535" "00006" "Isolated (sporadic)" "11y" "short stature (−1.3 SD), mild motor delay, mild speech delay; transposition great vessels, 4w-successfully repaired; wide mouth, thin upper lip, mildly bulbous nose, large ears, bilateral clinodactyly; bone age radiograph irregular metaphyseal boundaries proximal phalangeal growth plates" "" "" "" "" "" "" "" "" "VERBRAS" "" "" "0000270752" "00198" "00375538" "04085" "Isolated (sporadic)" "10y" "no intellectual disability; autism; no motor delay; no language delay; facial dysmorphism; no short stature (<-2SD); no low weight (<-2SD); no feeding difficulties/gastro-oesophageal reflux disease; 8y-seizures; no hypotonia; normal CK; no chondrodysplasia; no scoliosis; no cardiac abnormalities; no renal abnormalities; no structural brain abnormalities" "" "" "" "" "" "" "" "" "VERBRAS" "" "" "0000270753" "00198" "00375539" "04085" "Isolated (sporadic)" "11y" "mild intellectual disability; autism; motor delay; no language delay; facial dysmorphism; no short stature (<-2SD); no low weight (<-2SD); no feeding difficulties/gastro-oesophageal reflux disease; no seizures; no hypotonia; normal CK; no chondrodysplasia; no scoliosis; cardiac abnormalities; no renal abnormalities; structural brain abnormalities" "" "" "" "" "" "" "" "" "VERBRAS" "" "" "0000270754" "00198" "00375540" "04085" "Isolated (sporadic)" "22m" "no intellectual disability; no autism; motor delay; no language delay; facial dysmorphism; short stature (<-2SD), growth hormone responsive; low weight (<-2SD); no feeding difficulties/gastro-oesophageal reflux disease; no seizures; hypotonia; normal CK; no chondrodysplasia; no scoliosis; no cardiac abnormalities; no renal abnormalities; no structural brain abnormalities" "" "" "" "" "" "" "" "" "VERBRAS" "" "" "0000270755" "00198" "00375541" "04085" "Isolated (sporadic)" "10y" "no intellectual disability; no autism; motor delay; language delay; facial dysmorphism; no short stature (<-2SD); no low weight (<-2SD); no feeding difficulties/gastro-oesophageal reflux disease; no seizures; hypotonia; normal CK; no chondrodysplasia; scoliosis; no cardiac abnormalities; no renal abnormalities; no structural brain abnormalities" "" "" "" "" "" "" "" "" "VERBRAS" "" "" "0000270756" "00198" "00375542" "04085" "Isolated (sporadic)" "3y" "no intellectual disability; no autism; motor delay; language delay; facial dysmorphism; no short stature (<-2SD); no low weight (<-2SD); no feeding difficulties/gastro-oesophageal reflux disease; no seizures; no hypotonia; normal CK; no chondrodysplasia; no scoliosis; no cardiac abnormalities; no renal abnormalities; structural brain abnormalities" "" "" "" "" "" "" "" "" "VERBRAS" "" "" "0000270757" "00198" "00375543" "04085" "Isolated (sporadic)" "13y" "mild intellectual disability; no autism; motor delay; language delay; facial dysmorphism; no short stature (<-2SD); no low weight (<-2SD); no feeding difficulties/gastro-oesophageal reflux disease; no seizures; hypotonia; normal CK; no chondrodysplasia; scoliosis; no cardiac abnormalities; renal abnormalities; no structural brain abnormalities" "" "" "" "" "" "" "" "" "VERBRAS" "" "" "0000270758" "00198" "00375544" "04085" "Isolated (sporadic)" "11y" "moderate intellectual disability; autism; motor delay; language delay; facial dysmorphism; no short stature (<-2SD); no low weight (<-2SD); no feeding difficulties/gastro-oesophageal reflux disease; 5y-seizures; no hypotonia; normal CK; no chondrodysplasia; no scoliosis; no cardiac abnormalities; no renal abnormalities; no structural brain abnormalities" "" "" "" "" "" "" "" "" "VERBRAS" "" "" "0000270759" "00198" "00375545" "04085" "Isolated (sporadic)" "26y" "mild intellectual disability; autism; motor delay; language delay; facial dysmorphism; no short stature (<-2SD); low weight (<-2SD); no feeding difficulties/gastro-oesophageal reflux disease; no seizures; no hypotonia; normal CK; no chondrodysplasia; no scoliosis; no cardiac abnormalities; no renal abnormalities; no structural brain abnormalities" "" "" "" "" "" "" "" "" "VERBRAS" "" "" "0000270760" "00198" "00375546" "04085" "Isolated (sporadic)" "13y" "mild/moderate intellectual disability; no autism; no motor delay; no language delay; facial dysmorphism; no short stature (<-2SD); low weight (<-2SD); no feeding difficulties/gastro-oesophageal reflux disease; 6y-seizures; no hypotonia; normal CK; no chondrodysplasia; no scoliosis; no cardiac abnormalities; no renal abnormalities; no structural brain abnormalities" "" "" "" "" "" "" "" "" "VERBRAS" "" "" "0000270761" "00198" "00375547" "04085" "Isolated (sporadic)" "13y" "moderate/severe intellectual disability; no autism; no motor delay; language delay; facial dysmorphism; short stature (<-2SD); no low weight (<-2SD); no feeding difficulties/gastro-oesophageal reflux disease; no seizures; no hypotonia; normal CK; no chondrodysplasia; no scoliosis; no cardiac abnormalities; no renal abnormalities; structural brain abnormalities" "" "" "" "" "" "" "" "" "VERBRAS" "" "" "0000270762" "00198" "00375548" "04085" "Isolated (sporadic)" "7y" "mild intellectual disability; autism; motor delay; language delay; facial dysmorphism; no short stature (<-2SD); no low weight (<-2SD); no feeding difficulties/gastro-oesophageal reflux disease; no seizures; no hypotonia; normal CK; no chondrodysplasia; no scoliosis; no cardiac abnormalities; no renal abnormalities; no structural brain abnormalities" "" "" "" "" "" "" "" "" "VERBRAS" "" "" "0000270763" "00198" "00375549" "04085" "Isolated (sporadic)" "15y" "mild intellectual disability; autism; motor delay; language delay; facial dysmorphism; no short stature (<-2SD); no low weight (<-2SD); feeding difficulties/gastro-oesophageal reflux disease; 14y-seizures; hypotonia; elevated CK; no chondrodysplasia; no scoliosis; no cardiac abnormalities; no renal abnormalities; no structural brain abnormalities" "" "" "" "" "" "" "" "" "VERBRAS" "" "" "0000270764" "00198" "00375550" "04085" "Isolated (sporadic)" "11y" "no intellectual disability; no autism; motor delay; language delay; facial dysmorphism; short stature (<-2SD), growth hormone unresponsive; low weight (<-2SD); no feeding difficulties/gastro-oesophageal reflux disease; 6m-seizures; hypotonia; normal CK; no chondrodysplasia; scoliosis; no cardiac abnormalities; no renal abnormalities; structural brain abnormalities" "" "" "" "" "" "" "" "" "VERBRAS" "" "" "0000270765" "00198" "00375551" "04085" "Isolated (sporadic)" "14y" "no intellectual disability; no autism; no motor delay; language delay; facial dysmorphism; short stature (<-2SD); low weight (<-2SD); no feeding difficulties/gastro-oesophageal reflux disease; no seizures; no hypotonia; normal CK; no chondrodysplasia; scoliosis; no cardiac abnormalities; no renal abnormalities; no structural brain abnormalities" "" "" "" "" "" "" "" "" "VERBRAS" "" "" "0000270766" "00198" "00375552" "04085" "Isolated (sporadic)" "6y" "no intellectual disability; no autism; no motor delay; language delay; facial dysmorphism; no short stature (<-2SD); low weight (<-2SD); no feeding difficulties/gastro-oesophageal reflux disease; no seizures; no hypotonia; normal CK; no chondrodysplasia; no scoliosis; cardiac abnormalities; no renal abnormalities; no structural brain abnormalities" "" "" "" "" "" "" "" "" "VERBRAS" "" "" "0000270767" "00198" "00375553" "04085" "Isolated (sporadic)" "" "mild intellectual disability; no autism; motor delay; no language delay; facial dysmorphism; no short stature (<-2SD); no low weight (<-2SD); feeding difficulties/gastro-oesophageal reflux disease; 6y- seizures; no hypotonia; normal CK; no chondrodysplasia; no scoliosis; cardiac abnormalities; renal abnormalities; structural brain abnormalities" "" "" "" "" "" "" "" "" "VERBRAS" "" "" "0000270768" "00198" "00375554" "04085" "Isolated (sporadic)" "6y" "mild intellectual disability; no autism; motor delay; language delay; facial dysmorphism; short stature (<-2SD); low weight (<-2SD); no feeding difficulties/gastro-oesophageal reflux disease; no seizures; hypotonia; normal CK; no chondrodysplasia; no scoliosis; no cardiac abnormalities; no renal abnormalities; no structural brain abnormalities" "" "" "" "" "" "" "" "" "VERBRAS" "" "" "0000270769" "00198" "00375555" "04085" "Isolated (sporadic)" "15y" "moderate intellectual disability; no autism; motor delay; language delay; facial dysmorphism; no short stature (<-2SD); no low weight (<-2SD); no feeding difficulties/gastro-oesophageal reflux disease; no seizures; no hypotonia; normal CK; no chondrodysplasia; no scoliosis; no cardiac abnormalities; no renal abnormalities; structural brain abnormalities" "" "" "" "" "" "" "" "" "VERBRAS" "" "" "0000270770" "00198" "00375556" "04085" "Isolated (sporadic)" "6y" "no intellectual disability; no autism; motor delay; language delay; facial dysmorphism; short stature (<-2SD), growth hormone responsive; no low weight (<-2SD); no feeding difficulties/gastro-oesophageal reflux disease; no seizures; hypotonia; normal CK; no chondrodysplasia; no scoliosis; no cardiac abnormalities; no renal abnormalities; no structural brain abnormalities" "" "" "" "" "" "" "" "" "VERBRAS" "" "" "0000270771" "00198" "00375557" "04085" "Isolated (sporadic)" "8y" "moderate intellectual disability; no autism; no motor delay; language delay; facial dysmorphism; short stature (<-2SD); no low weight (<-2SD); no feeding difficulties/gastro-oesophageal reflux disease; no seizures; no hypotonia; normal CK; no chondrodysplasia; no scoliosis; no cardiac abnormalities; no renal abnormalities; no structural brain abnormalities" "" "" "" "" "" "" "" "" "VERBRAS" "" "" "0000270772" "00198" "00375558" "04085" "Isolated (sporadic)" "14y" "no intellectual disability; autism; motor delay; language delay; no facial dysmorphism; no short stature (<-2SD); no low weight (<-2SD); no feeding difficulties/gastro-oesophageal reflux disease; 9y-seizures; no hypotonia; normal CK; no chondrodysplasia; no scoliosis; no cardiac abnormalities; no renal abnormalities; no structural brain abnormalities" "" "" "" "" "" "" "" "" "VERBRAS" "" "" "0000270773" "00198" "00375559" "04085" "Isolated (sporadic)" "3y" "no autism; motor delay; no language delay; facial dysmorphism; short stature (<-2SD); no low weight (<-2SD); no feeding difficulties/gastro-oesophageal reflux disease; no seizures; no hypotonia; normal CK; no chondrodysplasia; no scoliosis; no cardiac abnormalities; no renal abnormalities; no structural brain abnormalities" "" "" "" "" "" "" "" "" "VERBRAS" "" "" "0000270774" "00198" "00375560" "04085" "Isolated (sporadic)" "3y" "no intellectual disability; autism; motor delay; language delay; no facial dysmorphism; no short stature (<-2SD); no low weight (<-2SD); no feeding difficulties/gastro-oesophageal reflux disease; seizures; hypotonia; normal CK; no chondrodysplasia; no scoliosis; no cardiac abnormalities; no renal abnormalities; no structural brain abnormalities" "" "" "" "" "" "" "" "" "VERBRAS" "" "" "0000270775" "00198" "00375561" "04085" "Isolated (sporadic)" "2y" "no intellectual disability; autism; no motor delay; language delay; no facial dysmorphism; no short stature (<-2SD); no low weight (<-2SD); no feeding difficulties/gastro-oesophageal reflux disease; no seizures; no hypotonia; normal CK; no chondrodysplasia; no scoliosis; no cardiac abnormalities; no renal abnormalities; no structural brain abnormalities" "" "" "" "" "" "" "" "" "VERBRAS" "" "" "0000270776" "00198" "00375562" "04085" "Isolated (sporadic)" "11y" "mild intellectual disability; no autism; motor delay; no language delay; facial dysmorphism; no short stature (<-2SD); no low weight (<-2SD); feeding difficulties/gastro-oesophageal reflux disease; no seizures; hypotonia; normal CK; no chondrodysplasia; no scoliosis; cardiac abnormalities; no renal abnormalities; structural brain abnormalities" "" "" "" "" "" "" "" "" "VERBRAS" "" "" "0000270777" "00198" "00375563" "04085" "Unknown" "4y" "moderate intellectual disability; autism; no motor delay; language delay; facial dysmorphism; no short stature (<-2SD); no low weight (<-2SD); no feeding difficulties/gastro-oesophageal reflux disease; 1y6m-seizures; hypotonia; normal CK; no chondrodysplasia; no scoliosis; no cardiac abnormalities; renal abnormalities; structural brain abnormalities" "" "" "" "" "" "" "" "" "VERBRAS" "" "" "0000270778" "00198" "00375564" "04085" "Unknown" "4y" "mild intellectual disability; no autism; motor delay; language delay; facial dysmorphism; no short stature (<-2SD); no low weight (<-2SD); feeding difficulties/gastro-oesophageal reflux disease; no seizures; hypotonia; normal CK; no chondrodysplasia; no scoliosis; no cardiac abnormalities; no renal abnormalities; no structural brain abnormalities" "" "" "" "" "" "" "" "" "VERBRAS" "" "" "0000270779" "00198" "00375565" "04085" "Isolated (sporadic)" "21m" "mild intellectual disability; no autism; motor delay; language delay; facial dysmorphism; short stature (<-2SD); no low weight (<-2SD); feeding difficulties/gastro-oesophageal reflux disease; no seizures; no hypotonia; normal CK; no chondrodysplasia; no scoliosis; no cardiac abnormalities; no renal abnormalities; no structural brain abnormalities" "" "" "" "" "" "" "" "" "VERBRAS" "" "" ## 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}}" "0000376193" "00374999" "1" "00006" "00006" "2021-05-28 08:44:07" "" "" "SEQ-NG" "DNA" "" "WES" "0000376194" "00375000" "1" "00006" "00006" "2021-05-28 08:52:45" "" "" "SEQ-NG" "DNA" "" "WES" "0000376195" "00375001" "1" "00006" "00006" "2021-05-28 08:55:32" "" "" "SEQ-NG" "DNA" "" "WES" "0000376196" "00375002" "1" "00006" "00006" "2021-05-28 09:08:15" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000376726" "00375529" "1" "00006" "00006" "2021-06-10 15:59:28" "" "" "SEQ-NG" "DNA" "" "trio WES" "0000376727" "00375530" "1" "00006" "00006" "2021-06-10 16:07:20" "" "" "SEQ-NG" "DNA" "" "trio WES" "0000376728" "00375531" "1" "00006" "00006" "2021-06-10 16:07:20" "" "" "SEQ-NG" "DNA" "" "trio WES" "0000376729" "00375532" "1" "00006" "00006" "2021-06-10 16:07:20" "" "" "SEQ-NG" "DNA" "" "trio WES" "0000376730" "00375534" "1" "00006" "00006" "2021-06-10 16:07:20" "" "" "SEQ-NG" "DNA" "" "trio WES" "0000376732" "00375535" "1" "00006" "00006" "2021-06-10 16:07:20" "" "" "SEQ-NG" "DNA" "" "trio WES" "0000376735" "00375538" "1" "04085" "04085" "2021-06-11 10:15:24" "" "" "SEQ-NG" "DNA" "" "" "0000376736" "00375539" "1" "04085" "04085" "2021-06-11 10:15:24" "" "" "SEQ-NG" "DNA" "" "" "0000376737" "00375540" "1" "04085" "04085" "2021-06-11 10:15:24" "" "" "SEQ-NG" "DNA" "" "" "0000376738" "00375541" "1" "04085" "04085" "2021-06-11 10:15:24" "" "" "SEQ-NG" "DNA" "" "" "0000376739" "00375542" "1" "04085" "04085" "2021-06-11 10:15:24" "" "" "SEQ-NG" "DNA" "" "" "0000376740" "00375543" "1" "04085" "04085" "2021-06-11 10:15:24" "" "" "SEQ-NG" "DNA" "" "" "0000376741" "00375544" "1" "04085" "04085" "2021-06-11 10:15:24" "" "" "SEQ-NG" "DNA" "" "" "0000376742" "00375545" "1" "04085" "04085" "2021-06-11 10:15:24" "" "" "SEQ-NG" "DNA" "" "" "0000376743" "00375546" "1" "04085" "04085" "2021-06-11 10:15:24" "" "" "SEQ-NG" "DNA" "" "" "0000376744" "00375547" "1" "04085" "04085" "2021-06-11 10:15:24" "" "" "SEQ-NG" "DNA" "" "" "0000376745" "00375548" "1" "04085" "04085" "2021-06-11 10:15:24" "" "" "SEQ-NG" "DNA" "" "" "0000376746" "00375549" "1" "04085" "04085" "2021-06-11 10:15:24" "" "" "SEQ-NG" "DNA" "" "" "0000376747" "00375550" "1" "04085" "04085" "2021-06-11 10:15:24" "" "" "SEQ-NG" "DNA" "" "" "0000376748" "00375551" "1" "04085" "04085" "2021-06-11 10:15:24" "" "" "SEQ-NG" "DNA" "" "" "0000376749" "00375552" "1" "04085" "04085" "2021-06-11 10:15:24" "" "" "SEQ-NG" "DNA" "" "" "0000376750" "00375553" "1" "04085" "04085" "2021-06-11 10:15:24" "" "" "SEQ-NG" "DNA" "" "" "0000376751" "00375554" "1" "04085" "04085" "2021-06-11 10:15:24" "" "" "SEQ-NG" "DNA" "" "" "0000376752" "00375555" "1" "04085" "04085" "2021-06-11 10:15:24" "" "" "SEQ-NG" "DNA" "" "" "0000376753" "00375556" "1" "04085" "04085" "2021-06-11 10:15:24" "" "" "SEQ-NG" "DNA" "" "" "0000376754" "00375557" "1" "04085" "04085" "2021-06-11 10:15:24" "" "" "SEQ-NG" "DNA" "" "" "0000376755" "00375558" "1" "04085" "04085" "2021-06-11 10:15:24" "" "" "SEQ-NG" "DNA" "" "" "0000376756" "00375559" "1" "04085" "04085" "2021-06-11 10:15:24" "" "" "SEQ-NG" "DNA" "" "" "0000376757" "00375560" "1" "04085" "04085" "2021-06-11 10:15:24" "" "" "SEQ-NG" "DNA" "" "" "0000376758" "00375561" "1" "04085" "04085" "2021-06-11 10:15:24" "" "" "SEQ-NG" "DNA" "" "" "0000376759" "00375562" "1" "04085" "04085" "2021-06-11 10:15:24" "" "" "SEQ-NG" "DNA" "" "" "0000376760" "00375563" "1" "04085" "04085" "2021-06-11 10:15:24" "" "" "SEQ-NG" "DNA" "" "" "0000376761" "00375564" "1" "04085" "04085" "2021-06-11 10:15:24" "" "" "SEQ-NG" "DNA" "" "" "0000376762" "00375565" "1" "04085" "04085" "2021-06-11 10:15:24" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 30 "{{screeningid}}" "{{geneid}}" "0000376194" "QRICH1" "0000376195" "QRICH1" "0000376735" "QRICH1" "0000376736" "QRICH1" "0000376737" "QRICH1" "0000376738" "QRICH1" "0000376739" "QRICH1" "0000376740" "QRICH1" "0000376741" "QRICH1" "0000376742" "QRICH1" "0000376743" "QRICH1" "0000376744" "QRICH1" "0000376745" "QRICH1" "0000376746" "QRICH1" "0000376747" "QRICH1" "0000376748" "QRICH1" "0000376749" "QRICH1" "0000376750" "QRICH1" "0000376751" "QRICH1" "0000376752" "QRICH1" "0000376753" "QRICH1" "0000376754" "QRICH1" "0000376755" "QRICH1" "0000376756" "QRICH1" "0000376757" "QRICH1" "0000376758" "QRICH1" "0000376759" "QRICH1" "0000376760" "QRICH1" "0000376761" "QRICH1" "0000376762" "QRICH1" ## 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 = 70 "{{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}}" "0000306655" "0" "10" "3" "49136666" "49136666" "subst" "0.00192087" "01943" "QARS_000008" "g.49136666T>C" "" "" "" "QARS(NM_005051.2):c.1635A>G (p.Q545=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49099233T>C" "" "benign" "" "0000520155" "0" "30" "3" "49070047" "49070047" "subst" "0" "01804" "IMPDH2_000002" "g.49070047T>C" "" "" "" "QRICH1(NM_017730.2):c.2047+8A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49032614T>C" "" "likely benign" "" "0000520156" "0" "30" "3" "49135789" "49135789" "subst" "8.12196E-6" "01943" "QRICH1_000001" "g.49135789C>T" "" "" "" "QARS(NM_005051.2):c.2081G>A (p.R694Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49098356C>T" "" "likely benign" "" "0000520157" "0" "30" "3" "49136105" "49136105" "subst" "2.61308E-5" "02326" "QRICH1_000002" "g.49136105C>T" "" "" "" "QARS1(NM_005051.3):c.1884G>A (p.K628=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49098672C>T" "" "likely benign" "" "0000520158" "0" "70" "3" "49136126" "49136126" "subst" "0" "02329" "QRICH1_000003" "g.49136126C>T" "" "" "" "QARS1(NM_005051.3):c.1864-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49098693C>T" "" "likely pathogenic" "" "0000787777" "0" "90" "3" "49070148" "49070148" "subst" "0" "00006" "QRICH1_000004" "g.49070148G>A" "" "{PMID:Ververi 2018:28692176}" "" "" "" "De novo" "" "" "0" "" "" "g.49032715G>A" "" "pathogenic (dominant)" "" "0000787778" "0" "90" "3" "49070149" "49070149" "dup" "0" "00006" "QRICH1_000005" "g.49070149dup" "" "{PMID:Ververi 2018:28692176}" "" "" "" "De novo" "" "" "0" "" "" "g.49032716dup" "" "pathogenic (dominant)" "" "0000787779" "0" "90" "3" "49114312" "49114313" "delins" "0" "00006" "QRICH1_000006" "g.49114312_49114313delinsAA" "" "{PMID:Ververi 2018:28692176}" "" "Gln46_Gln47delinsHis*" "" "De novo" "" "" "0" "" "" "g.49076879_49076880delinsAA" "" "pathogenic (dominant)" "" "0000787781" "0" "90" "3" "49083923" "49083923" "subst" "0" "00006" "QRICH1_000007" "g.49083923G>A" "" "{PMID:Lui 2019:30281152}" "" "" "" "De novo" "" "" "0" "" "" "g.49046490G>A" "" "pathogenic (dominant)" "" "0000788736" "0" "90" "3" "49114206" "49114206" "del" "0" "00006" "QRICH1_000008" "g.49114206del" "" "{PMID:Baruch 2021:33738978}" "" "246delC" "" "De novo" "" "" "0" "" "" "g.49076773del" "" "pathogenic (dominant)" "" "0000788737" "0" "70" "3" "49068009" "49068009" "subst" "0" "00006" "QRICH1_000009" "g.49068009C>T" "" "{PMID:Föhrenbach 2021:33009816}" "" "" "" "De novo" "" "" "0" "" "" "g.49030576C>T" "" "likely pathogenic (dominant)" "" "0000788738" "0" "90" "3" "49094802" "49094803" "del" "0" "00006" "QRICH1_000010" "g.49094802_49094803del" "" "{PMID:Föhrenbach 2021:33009816}" "" "" "" "De novo" "" "" "0" "" "" "g.49057369_49057370del" "" "pathogenic (dominant)" "" "0000788739" "0" "90" "3" "49070148" "49070148" "subst" "0" "00006" "QRICH1_000004" "g.49070148G>A" "" "{PMID:Föhrenbach 2021:33009816}" "" "" "" "De novo" "" "" "0" "" "" "g.49032715G>A" "" "pathogenic (dominant)" "" "0000788740" "0" "90" "3" "49070635" "49070636" "del" "0" "00006" "QRICH1_000011" "g.49070635_49070636del" "" "{PMID:Föhrenbach 2021:33009816}" "" "1812_1813delTG" "" "De novo" "" "" "0" "" "" "g.49033202_49033203del" "" "pathogenic (dominant)" "" "0000788742" "0" "90" "3" "49083998" "49083998" "subst" "4.11438E-6" "00006" "QRICH1_000012" "g.49083998G>A" "" "{PMID:Lui 2019:30281152}" "" "" "" "De novo" "" "" "0" "" "" "g.49046565G>A" "" "pathogenic (dominant)" "" "0000788788" "0" "90" "3" "49114405" "49114405" "subst" "0" "04085" "QRICH1_000038" "g.49114405G>A" "" "Tümer 2021, submitted" "" "" "" "De novo" "" "" "0" "" "" "g.49076972G>A" "" "pathogenic (dominant)" "ACMG" "0000788789" "0" "90" "3" "49114316" "49114316" "del" "0" "04085" "QRICH1_000037" "g.49114316del" "" "Tümer 2021, submitted" "" "" "" "De novo" "" "" "0" "" "" "g.49076883del" "" "pathogenic (dominant)" "ACMG" "0000788790" "11" "50" "3" "49095325" "49095325" "subst" "4.0824E-6" "04085" "QRICH1_000036" "g.49095325T>G" "" "Tümer 2021, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.49057892T>G" "" "VUS" "ACMG" "0000788791" "0" "90" "3" "49095092" "49095092" "subst" "0" "04085" "QRICH1_000035" "g.49095092G>A" "" "Tümer 2021, submitted" "" "" "" "De novo" "" "" "0" "" "" "g.49057659G>A" "" "pathogenic (dominant)" "ACMG" "0000788792" "0" "70" "3" "49094877" "49094877" "subst" "0" "04085" "QRICH1_000034" "g.49094877C>A" "" "Tümer 2021, submitted" "" "" "" "De novo" "" "" "0" "" "" "g.49057444C>A" "" "likely pathogenic (dominant)" "ACMG" "0000788793" "0" "90" "3" "49094810" "49094810" "subst" "0" "04085" "QRICH1_000033" "g.49094810G>A" "" "Tümer 2021, submitted" "" "" "" "De novo" "" "" "0" "" "" "g.49057377G>A" "" "pathogenic (dominant)" "ACMG" "0000788794" "0" "70" "3" "49094782" "49094782" "subst" "0" "04085" "QRICH1_000032" "g.49094782G>A" "" "Tümer 2021, submitted" "" "" "" "De novo" "" "" "0" "" "" "g.49057349G>A" "" "likely pathogenic (dominant)" "ACMG" "0000788795" "21" "70" "3" "49094719" "49094719" "dup" "0" "04085" "QRICH1_000031" "g.49094719dup" "" "Tümer 2021, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.49057286dup" "" "likely pathogenic (dominant)" "ACMG" "0000788796" "11" "70" "3" "49094677" "49094677" "del" "0" "04085" "QRICH1_000030" "g.49094677del" "" "Tümer 2021, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.49057244del" "" "likely pathogenic (dominant)" "ACMG" "0000788797" "0" "90" "3" "49094650" "49094650" "del" "0" "04085" "QRICH1_000029" "g.49094650del" "" "Tümer 2021, submitted" "" "" "" "De novo" "" "" "0" "" "" "g.49057217del" "" "pathogenic (dominant)" "ACMG" "0000788798" "0" "90" "3" "49094487" "49094490" "del" "0" "04085" "QRICH1_000028" "g.49094487_49094490del" "" "Tümer 2021, submitted" "" "" "" "De novo" "" "" "0" "" "" "g.49057054_49057057del" "" "pathogenic (dominant)" "ACMG" "0000788799" "0" "70" "3" "49094453" "49094453" "subst" "0" "04085" "QRICH1_000027" "g.49094453G>C" "" "Tümer 2021, submitted" "" "" "" "De novo" "" "" "0" "" "" "g.49057020G>C" "" "likely pathogenic (dominant)" "ACMG" "0000788800" "0" "90" "3" "49094375" "49094375" "subst" "0" "04085" "QRICH1_000026" "g.49094375G>A" "" "Tümer 2021, submitted" "" "" "" "De novo" "" "" "0" "" "" "g.49056942G>A" "" "pathogenic (dominant)" "ACMG" "0000788801" "0" "90" "3" "49094341" "49094341" "dup" "0" "04085" "QRICH1_000025" "g.49094341dup" "" "Tümer 2021, submitted" "" "" "" "De novo" "" "" "0" "" "" "g.49056908dup" "" "pathogenic (dominant)" "ACMG" "0000788802" "0" "50" "3" "49094329" "49094329" "subst" "0" "04085" "QRICH1_000024" "g.49094329T>C" "" "Tümer 2021, submitted" "" "" "" "De novo" "" "" "0" "" "" "g.49056896T>C" "" "VUS" "ACMG" "0000788803" "0" "90" "3" "49084640" "49084640" "subst" "0" "04085" "QRICH1_000023" "g.49084640G>A" "" "Tümer 2021, submitted" "" "" "" "De novo" "" "" "0" "" "" "g.49047207G>A" "" "pathogenic (dominant)" "ACMG" "0000788804" "0" "70" "3" "49083950" "49083950" "subst" "0" "04085" "QRICH1_000022" "g.49083950C>T" "" "Tümer 2021, submitted" "" "" "" "De novo" "" "" "0" "" "" "g.49046517C>T" "" "likely pathogenic (dominant)" "ACMG" "0000788805" "0" "90" "3" "49083905" "49083905" "del" "0" "04085" "QRICH1_000021" "g.49083905del" "" "Tümer 2021, submitted" "" "" "" "De novo" "" "" "0" "" "" "g.49046472del" "" "pathogenic (dominant)" "ACMG" "0000788806" "0" "70" "3" "49083880" "49083880" "subst" "0" "04085" "QRICH1_000020" "g.49083880T>C" "" "Tümer 2021, submitted" "" "" "" "De novo" "" "" "0" "" "" "g.49046447T>C" "" "likely pathogenic (dominant)" "ACMG" "0000788807" "11" "70" "3" "49083877" "49083877" "del" "0" "04085" "QRICH1_000019" "g.49083877del" "" "Tümer 2021, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.49046444del" "" "likely pathogenic (dominant)" "ACMG" "0000788808" "0" "70" "3" "49081889" "49081889" "subst" "0" "04085" "QRICH1_000018" "g.49081889A>C" "" "Tümer 2021, submitted" "" "" "" "De novo" "" "" "0" "" "" "g.49044456A>C" "" "likely pathogenic (dominant)" "ACMG" "0000788809" "0" "90" "3" "49070663" "49070663" "subst" "0" "04085" "QRICH1_000017" "g.49070663T>C" "" "Tümer 2021, submitted" "" "" "" "De novo" "" "" "0" "" "" "g.49033230T>C" "" "pathogenic (dominant)" "ACMG" "0000788810" "0" "70" "3" "49070641" "49070641" "subst" "0" "04085" "QRICH1_000016" "g.49070641C>A" "" "Tümer 2021, submitted" "" "" "" "De novo" "" "" "0" "" "" "g.49033208C>A" "" "likely pathogenic (dominant)" "ACMG" "0000788811" "0" "70" "3" "49070564" "49070564" "subst" "0" "04085" "QRICH1_000015" "g.49070564G>C" "" "Tümer 2021, submitted" "" "" "" "De novo" "" "" "0" "" "" "g.49033131G>C" "" "likely pathogenic (dominant)" "ACMG" "0000788812" "0" "90" "3" "49070208" "49070208" "subst" "0" "04085" "QRICH1_000014" "g.49070208T>C" "" "Tümer 2021, submitted" "" "" "" "De novo" "" "" "0" "" "" "g.49032775T>C" "" "pathogenic (dominant)" "ACMG" "0000788813" "0" "90" "3" "49070148" "49070148" "subst" "0" "04085" "QRICH1_000004" "g.49070148G>A" "" "Tümer 2021, submitted" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.49032715G>A" "" "pathogenic (dominant)" "ACMG" "0000788814" "0" "90" "3" "49070148" "49070148" "subst" "0" "04085" "QRICH1_000004" "g.49070148G>A" "" "Tümer 2021, submitted" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.49032715G>A" "" "pathogenic (dominant)" "ACMG" "0000788815" "0" "90" "3" "49068000" "49068000" "subst" "0" "04085" "QRICH1_000013" "g.49068000C>T" "" "Tümer 2021, submitted" "" "" "" "De novo" "" "" "0" "" "" "g.49030567C>T" "" "pathogenic (dominant)" "ACMG" "0000801287" "0" "70" "3" "49070144" "49070147" "del" "0" "02327" "IMPDH2_000009" "g.49070144_49070147del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000801288" "0" "50" "3" "49084500" "49084503" "del" "0" "02327" "QRICH1_000039" "g.49084500_49084503del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801289" "0" "30" "3" "49136356" "49136356" "subst" "1.62422E-5" "01943" "QARS_000034" "g.49136356C>T" "" "" "" "QARS(NM_005051.2):c.1825G>A (p.A609T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850364" "0" "10" "3" "49136630" "49136630" "subst" "0.000584814" "02326" "QARS_000037" "g.49136630C>A" "" "" "" "QARS1(NM_005051.3):c.1671G>T (p.V557=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000859073" "0" "50" "3" "49067983" "49067983" "subst" "2.03171E-5" "02325" "IMPDH2_000010" "g.49067983T>C" "" "" "" "QRICH1(NM_017730.4):c.2233A>G (p.I745V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911962" "0" "50" "3" "49064190" "49064190" "subst" "4.06055E-6" "02325" "IMPDH2_000011" "g.49064190A>G" "" "" "" "IMPDH2(NM_000884.3):c.749T>C (p.I250T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911963" "0" "50" "3" "49065217" "49065217" "subst" "0.000138059" "02325" "IMPDH2_000012" "g.49065217G>A" "" "" "" "IMPDH2(NM_000884.3):c.457C>T (p.R153C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911964" "0" "30" "3" "49083910" "49083910" "subst" "0" "02327" "QRICH1_000040" "g.49083910C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948187" "0" "70" "3" "49081881" "49081887" "del" "0" "02325" "QRICH1_000041" "g.49081881_49081887del" "" "" "" "QRICH1(NM_017730.4):c.1723_1729delGTTCGGT (p.V575Sfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000975887" "0" "70" "3" "49084007" "49084007" "subst" "0" "02329" "QRICH1_000042" "g.49084007G>A" "" "" "" "QRICH1(NM_001320581.2):c.1522C>T (p.Q508*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000975888" "0" "70" "3" "49084621" "49084621" "del" "0" "02329" "QRICH1_000043" "g.49084621del" "" "" "" "QRICH1(NM_017730.4):c.1398delA (p.E466Dfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000975889" "0" "70" "3" "49094814" "49094814" "dup" "0" "01804" "QRICH1_000044" "g.49094814dup" "" "" "" "QRICH1(NM_198880.3):c.821dup (p.(Gln275ProfsTer29))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000975890" "0" "30" "3" "49095178" "49095178" "subst" "5.28009E-5" "01804" "QRICH1_000045" "g.49095178T>G" "" "" "" "QRICH1(NM_198880.3):c.455A>C (p.(Gln152Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993769" "0" "30" "3" "49068036" "49068036" "subst" "0" "01804" "IMPDH2_000014" "g.49068036G>A" "" "" "" "QRICH1(NM_198880.1):c.2180C>T (p.(Thr727Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993770" "0" "50" "3" "49081829" "49081829" "subst" "8.25546E-6" "01804" "QRICH1_000046" "g.49081829G>A" "" "" "" "QRICH1(NM_198880.1):c.1780C>T (p.(Pro594Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993771" "0" "70" "3" "49083860" "49083861" "ins" "0" "01804" "QRICH1_000047" "g.49083860_49083861insCAT" "" "" "" "QRICH1(NM_198880.1):c.1669_1670insTGA (p.(Gln556_Lys557insMet))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000993772" "0" "30" "3" "49083878" "49083878" "subst" "0" "01804" "QRICH1_000048" "g.49083878T>C" "" "" "" "QRICH1(NM_198880.1):c.1651A>G (p.(Ile551Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993773" "0" "50" "3" "49094867" "49094867" "subst" "0" "01804" "QRICH1_000049" "g.49094867C>T" "" "" "" "QRICH1(NM_198880.1):c.766G>A (p.(Val256Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993774" "0" "30" "3" "49094954" "49094954" "subst" "2.85332E-5" "01804" "QRICH1_000050" "g.49094954C>T" "" "" "" "QRICH1(NM_198880.1):c.679G>A (p.(Gly227Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993775" "0" "50" "3" "49095125" "49095125" "subst" "0" "01804" "QRICH1_000051" "g.49095125G>C" "" "" "" "QRICH1(NM_198880.1):c.508C>G (p.(Gln170Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993776" "0" "50" "3" "49114155" "49114155" "subst" "0" "01804" "QRICH1_000052" "g.49114155G>A" "" "" "" "QRICH1(NM_198880.1):c.296C>T (p.(Pro99Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024834" "0" "70" "3" "49070150" "49070150" "subst" "0" "02329" "IMPDH2_000015" "g.49070150A>G" "" "" "" "QRICH1(NM_017730.4):c.1952T>C (p.L651S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001034031" "0" "50" "3" "49062387" "49062387" "subst" "4.06075E-6" "01804" "IMPDH2_000016" "g.49062387C>T" "" "" "" "IMPDH2(NM_000884.3):c.1237G>A (p.(Gly413Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034032" "0" "50" "3" "49070570" "49070570" "subst" "9.45707E-6" "01804" "IMPDH2_000017" "g.49070570G>A" "" "" "" "QRICH1(NM_198880.3):c.1878C>T (p.(Leu626=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034033" "0" "30" "3" "49112096" "49112097" "ins" "0" "01804" "QRICH1_000053" "g.49112096_49112097insG" "" "" "" "QRICH1(NM_198880.3):c.309+2045_309+2046insC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034034" "0" "30" "3" "49112098" "49112098" "subst" "0" "01804" "QRICH1_000054" "g.49112098T>A" "" "" "" "QRICH1(NM_198880.3):c.309+2044A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034035" "0" "50" "3" "49136661" "49136661" "subst" "0" "01804" "QRICH1_000055" "g.49136661G>A" "" "" "" "QARS(NM_005051.3):c.1640C>T (p.(Thr547Ile))" "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 QRICH1 ## Count = 70 "{{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}}" "0000306655" "00017250" "10" "-5403" "0" "-5403" "0" "c.-5403A>G" "r.(?)" "p.(=)" "" "0000520155" "00017250" "30" "2047" "8" "2047" "8" "c.2047+8A>G" "r.(=)" "p.(=)" "" "0000520156" "00017250" "30" "-4526" "0" "-4526" "0" "c.-4526G>A" "r.(?)" "p.(=)" "" "0000520157" "00017250" "30" "-4842" "0" "-4842" "0" "c.-4842G>A" "r.(?)" "p.(=)" "" "0000520158" "00017250" "70" "-4863" "0" "-4863" "0" "c.-4863G>A" "r.(?)" "p.(=)" "" "0000787777" "00017250" "90" "1954" "0" "1954" "0" "c.1954C>T" "r.(?)" "p.(Arg652*)" "9" "0000787778" "00017250" "90" "1953" "0" "1953" "0" "c.1953dup" "r.(?)" "p.(Arg652Alafs*9)" "9" "0000787779" "00017250" "90" "138" "0" "139" "0" "c.138_139delinsTT" "r.(?)" "p.(Gln46_Gln47delinsHis*)" "3" "0000787781" "00017250" "90" "1606" "0" "1606" "0" "c.1606C>T" "r.(?)" "p.(Arg536*)" "" "0000788736" "00017250" "90" "246" "0" "246" "0" "c.246del" "r.(?)" "p.(Ser83Valfs*163)" "" "0000788737" "00017250" "70" "2207" "0" "2207" "0" "c.2207G>A" "r.(?)" "p.(Ser736Asn)" "11" "0000788738" "00017250" "90" "832" "0" "833" "0" "c.832_833del" "r.(?)" "p.(Ser278Leufs*25)" "4" "0000788739" "00017250" "90" "1954" "0" "1954" "0" "c.1954C>T" "r.(?)" "p.(Arg652*)" "9" "0000788740" "00017250" "90" "1812" "0" "1813" "0" "c.1812_1813del" "r.(?)" "p.(Glu605Glyfs*25)" "8" "0000788742" "00017250" "90" "1531" "0" "1531" "0" "c.1531C>T" "r.(?)" "p.(Arg511*)" "6" "0000788788" "00017250" "90" "46" "0" "46" "0" "c.46C>T" "r.(?)" "p.(Arg16Ter)" "3" "0000788789" "00017250" "90" "136" "0" "136" "0" "c.136del" "r.(?)" "p.(Gln46SerfsTer200)" "3" "0000788790" "00017250" "50" "310" "-2" "310" "-2" "c.310-2A>C" "r.spl" "p.?" "3i" "0000788791" "00017250" "90" "541" "0" "541" "0" "c.541C>T" "r.(?)" "p.(Gln181Ter)" "4" "0000788792" "00017250" "70" "756" "0" "756" "0" "c.756G>T" "r.(?)" "p.(Met252Ile)" "4" "0000788793" "00017250" "90" "823" "0" "823" "0" "c.823C>T" "r.(?)" "p.(Gln275Ter)" "4" "0000788794" "00017250" "70" "851" "0" "851" "0" "c.851C>T" "r.(?)" "p.(Pro284Leu)" "4" "0000788795" "00017250" "70" "914" "0" "914" "0" "c.914dup" "r.(?)" "p.(Gly306ArgfsTer48)" "4" "0000788796" "00017250" "70" "961" "0" "961" "0" "c.961del" "r.(?)" "p.(Asp321ThrfsTer47)" "4" "0000788797" "00017250" "90" "985" "0" "985" "0" "c.985del" "r.(?)" "p.(His329ThrfsTer39)" "4" "0000788798" "00017250" "90" "1147" "0" "1150" "0" "c.1147_1150del" "r.(?)" "p.(Leu383PhefsTer6)" "4" "0000788799" "00017250" "70" "1180" "0" "1180" "0" "c.1180C>G" "r.(?)" "p.(His394Asp)" "4" "0000788800" "00017250" "90" "1258" "0" "1258" "0" "c.1258C>T" "r.(?)" "p.(Gln420Ter)" "4" "0000788801" "00017250" "90" "1292" "0" "1292" "0" "c.1292dup" "r.(?)" "p.(Pro432ThrfsTer23)" "4" "0000788802" "00017250" "50" "1304" "0" "1304" "0" "c.1304A>G" "r.(?)" "p.(Gln435Arg)" "4" "0000788803" "00017250" "90" "1378" "0" "1378" "0" "c.1378C>T" "r.(?)" "p.(Gln460Ter)" "5" "0000788804" "00017250" "70" "1579" "0" "1579" "0" "c.1579G>A" "r.(?)" "p.(Gly527Arg)" "6" "0000788805" "00017250" "90" "1626" "0" "1626" "0" "c.1626del" "r.(?)" "p.(Tyr543MetfsTer23)" "6" "0000788806" "00017250" "70" "1649" "0" "1649" "0" "c.1649A>G" "r.(?)" "p.(Tyr550Cys)" "6" "0000788807" "00017250" "70" "1655" "0" "1655" "0" "c.1655del" "r.(?)" "p.(Phe552SerfsTer14)" "6" "0000788808" "00017250" "70" "1720" "0" "1720" "0" "c.1720T>G" "r.(?)" "p.(Tyr574Asp)" "7" "0000788809" "00017250" "90" "1787" "-2" "1787" "-2" "c.1787-2A>G" "r.spl" "p.?" "7i" "0000788810" "00017250" "70" "1807" "0" "1807" "0" "c.1807G>T" "r.(?)" "p.(Val603Leu)" "8" "0000788811" "00017250" "70" "1884" "0" "1884" "0" "c.1884C>G" "r.(?)" "p.(Phe628Leu)" "8" "0000788812" "00017250" "90" "1896" "-2" "1896" "-2" "c.1896-2A>G" "r.spl" "p.?" "8i" "0000788813" "00017250" "90" "1954" "0" "1954" "0" "c.1954C>T" "r.(?)" "p.(Arg652Ter)" "9" "0000788814" "00017250" "90" "1954" "0" "1954" "0" "c.1954C>T" "r.(?)" "p.(Arg652Ter)" "9" "0000788815" "00017250" "90" "2216" "0" "2216" "0" "c.2216G>A" "r.(?)" "p.(Trp739Ter)" "11" "0000801287" "00017250" "70" "1959" "0" "1962" "0" "c.1959_1962del" "r.(?)" "p.(Thr654Argfs*17)" "" "0000801288" "00017250" "50" "1516" "4" "1516" "7" "c.1516+4_1516+7del" "r.spl?" "p.?" "" "0000801289" "00017250" "30" "-5093" "0" "-5093" "0" "c.-5093G>A" "r.(?)" "p.(=)" "" "0000850364" "00017250" "10" "-5367" "0" "-5367" "0" "c.-5367G>T" "r.(?)" "p.(=)" "" "0000859073" "00017250" "50" "2233" "0" "2233" "0" "c.2233A>G" "r.(?)" "p.(Ile745Val)" "" "0000911962" "00017250" "50" "6026" "0" "6026" "0" "c.*3695T>C" "r.(=)" "p.(=)" "" "0000911963" "00017250" "50" "4999" "0" "4999" "0" "c.*2668C>T" "r.(=)" "p.(=)" "" "0000911964" "00017250" "30" "1619" "0" "1619" "0" "c.1619G>A" "r.(?)" "p.(Gly540Asp)" "" "0000948187" "00017250" "70" "1723" "0" "1729" "0" "c.1723_1729del" "r.(?)" "p.(Val575Serfs*9)" "" "0000975887" "00017250" "70" "1522" "0" "1522" "0" "c.1522C>T" "r.(?)" "p.(Gln508*)" "" "0000975888" "00017250" "70" "1398" "0" "1398" "0" "c.1398del" "r.(?)" "p.(Glu466Aspfs*8)" "" "0000975889" "00017250" "70" "821" "0" "821" "0" "c.821dup" "r.(?)" "p.(Gln275Profs*29)" "" "0000975890" "00017250" "30" "455" "0" "455" "0" "c.455A>C" "r.(?)" "p.(Gln152Pro)" "" "0000993769" "00017250" "30" "2180" "0" "2180" "0" "c.2180C>T" "r.(?)" "p.(Thr727Ile)" "" "0000993770" "00017250" "50" "1780" "0" "1780" "0" "c.1780C>T" "r.(?)" "p.(Pro594Ser)" "" "0000993771" "00017250" "70" "1669" "0" "1670" "0" "c.1669_1670insTGA" "r.(?)" "p.(Gln556_Lys557insMet)" "" "0000993772" "00017250" "30" "1651" "0" "1651" "0" "c.1651A>G" "r.(?)" "p.(Ile551Val)" "" "0000993773" "00017250" "50" "766" "0" "766" "0" "c.766G>A" "r.(?)" "p.(Val256Met)" "" "0000993774" "00017250" "30" "679" "0" "679" "0" "c.679G>A" "r.(?)" "p.(Gly227Ser)" "" "0000993775" "00017250" "50" "508" "0" "508" "0" "c.508C>G" "r.(?)" "p.(Gln170Glu)" "" "0000993776" "00017250" "50" "296" "0" "296" "0" "c.296C>T" "r.(?)" "p.(Pro99Leu)" "" "0001024834" "00017250" "70" "1952" "0" "1952" "0" "c.1952T>C" "r.(?)" "p.(Leu651Ser)" "" "0001034031" "00017250" "50" "7829" "0" "7829" "0" "c.*5498G>A" "r.(=)" "p.(=)" "" "0001034032" "00017250" "50" "1878" "0" "1878" "0" "c.1878C>T" "r.(?)" "p.(=)" "" "0001034033" "00017250" "30" "309" "2045" "309" "2046" "c.309+2045_309+2046insC" "r.(=)" "p.(=)" "" "0001034034" "00017250" "30" "309" "2044" "309" "2044" "c.309+2044A>T" "r.(=)" "p.(=)" "" "0001034035" "00017250" "50" "-5398" "0" "-5398" "0" "c.-5398C>T" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 38 "{{screeningid}}" "{{variantid}}" "0000376193" "0000787777" "0000376194" "0000787778" "0000376195" "0000787779" "0000376196" "0000787781" "0000376726" "0000788736" "0000376727" "0000788737" "0000376728" "0000788738" "0000376729" "0000788739" "0000376730" "0000788740" "0000376732" "0000788742" "0000376735" "0000788788" "0000376736" "0000788789" "0000376737" "0000788790" "0000376738" "0000788791" "0000376739" "0000788792" "0000376740" "0000788793" "0000376741" "0000788794" "0000376742" "0000788795" "0000376743" "0000788796" "0000376744" "0000788797" "0000376745" "0000788798" "0000376746" "0000788799" "0000376747" "0000788800" "0000376748" "0000788801" "0000376749" "0000788802" "0000376750" "0000788803" "0000376751" "0000788804" "0000376752" "0000788805" "0000376753" "0000788806" "0000376754" "0000788807" "0000376755" "0000788808" "0000376756" "0000788809" "0000376757" "0000788810" "0000376758" "0000788811" "0000376759" "0000788812" "0000376760" "0000788813" "0000376761" "0000788814" "0000376762" "0000788815"