### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = GLRA1)
# 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}}"
"GLRA1" "glycine receptor, alpha 1" "5" "q33.1" "unknown" "NG_011764.1" "UD_132085269093" "" "https://www.LOVD.nl/GLRA1" "" "1" "4326" "2741" "138491" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland. We gratefully acknowledge the work of Ieke Ginjaar (LUMC, Leiden) and Vincent Janmaat (LUMC, Leiden) submitting published variants to this gene variant database." "" "g" "https://databases.lovd.nl/shared/refseq/GLRA1_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2008-03-01 00:00:00" "00006" "2021-10-05 14:59:39" "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}}"
"00024307" "GLRA1" "transcript variant 1" "003" "NM_001146040.1" "" "NP_001139512.1" "" "" "" "-287" "1534" "1374" "151304397" "151202074" "00006" "2017-08-04 15:12:21" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 6
"{{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"
"01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"01410" "HKPX" "hyperekplexia, hereditary (HKPX)" "AD;AR" "149400" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59"
"05537" "OCA" "albinism, oculocutaneous" "" "" "" "" "" "00006" "2018-12-22 14:35:14" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"GLRA1" "01410"
## Individuals ## Do not remove or alter this header ##
## Count = 43
"{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}"
"00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" ""
"00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" ""
"00112202" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00112203" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00112204" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00112205" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00112206" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00112207" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00112208" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00112209" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00112210" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00112211" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00112212" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00112213" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00112214" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00112215" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00112216" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00112217" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00112218" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00112219" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00112220" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00112221" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00112222" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00112223" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00112224" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00112225" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00112226" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00112227" "" "" "" "1" "" "00006" "Humeny [2002]" "" "" "" "" "" "0" "" "" "" ""
"00112228" "" "" "" "1" "" "00006" "Saul [1999]" "In a pedigree showing dominant transmission of hyperekplexia," "" "" "" "" "0" "" "" "" ""
"00112229" "" "" "" "1" "" "00006" "Becker [2007]" "" "" "" "" "" "0" "" "" "" ""
"00112230" "" "" "" "1" "" "00006" "Lapunzina [2003]" "Mutations in this hot spot domain of GLRA1 are frequent in autosomal dominant hyperekplexia but are not usually seen in the autosomal recessive form of the disease in which both the M1 and the carboxy terminal domains have been implicated." "" "" "" "" "0" "" "" "" ""
"00112231" "" "" "" "1" "" "00006" "Elmslie [1996]" "" "" "" "" "" "0" "" "" "" ""
"00112232" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00112233" "" "" "" "1" "" "00006" "Kang [2008]" "" "" "" "Korea" "" "0" "" "" "" ""
"00112234" "" "" "" "1" "" "00006" "Elmslie [1996]" "" "" "" "" "" "0" "" "" "" ""
"00112235" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00163755" "" "" "" "1" "" "02447" "" "" "" "" "" "" "0" "" "" "" ""
"00293799" "" "" "" "21" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00320001" "" "" "" "1" "" "01164" "" "" "M" "?" "Finland" "" "0" "" "" "" "171467"
"00374332" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4666"
"00426125" "" "" "" "1" "" "00006" "{PMID:Al-Kasbi 2022:36344539}" "patient, other affecteds in family" "M" "" "Oman" "" "0" "" "" "" "10DK13700"
"00438398" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "F" "" "China" "" "0" "" "" "" "Pat117"
"00464353" "" "" "" "1" "" "04459" "" "" "" "" "" "" "" "" "" "" ""
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 44
"{{individualid}}" "{{diseaseid}}"
"00000208" "01157"
"00000209" "01157"
"00112202" "01410"
"00112203" "01410"
"00112204" "01410"
"00112205" "01410"
"00112206" "01410"
"00112207" "01410"
"00112208" "01410"
"00112209" "01410"
"00112210" "01410"
"00112211" "01410"
"00112212" "01410"
"00112213" "01410"
"00112214" "01410"
"00112215" "01410"
"00112216" "01410"
"00112217" "01410"
"00112218" "01410"
"00112219" "01410"
"00112220" "01410"
"00112221" "01410"
"00112222" "01410"
"00112223" "01410"
"00112224" "01410"
"00112225" "01410"
"00112226" "01410"
"00112227" "01410"
"00112228" "01410"
"00112229" "01410"
"00112230" "01410"
"00112231" "01410"
"00112232" "01410"
"00112233" "01410"
"00112234" "01410"
"00112235" "01410"
"00163755" "01410"
"00293799" "00198"
"00320001" "01410"
"00374332" "00198"
"00426125" "00139"
"00426125" "05537"
"00438398" "04270"
"00464353" "01410"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 01157, 01410, 04270, 05537
## Count = 42
"{{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}}"
"0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" ""
"0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" ""
"0000087766" "01410" "00112202" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000087767" "01410" "00112203" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000087768" "01410" "00112204" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000087769" "01410" "00112205" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000087770" "01410" "00112206" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000087771" "01410" "00112207" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000087772" "01410" "00112208" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000087773" "01410" "00112209" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000087774" "01410" "00112210" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000087775" "01410" "00112211" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000087776" "01410" "00112212" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000087777" "01410" "00112213" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000087778" "01410" "00112214" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000087779" "01410" "00112215" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000087780" "01410" "00112216" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000087781" "01410" "00112217" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000087782" "01410" "00112218" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000087783" "01410" "00112219" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000087784" "01410" "00112220" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000087785" "01410" "00112221" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000087786" "01410" "00112222" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000087787" "01410" "00112223" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000087788" "01410" "00112224" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000087789" "01410" "00112225" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000087790" "01410" "00112226" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000087791" "01410" "00112227" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000087792" "01410" "00112228" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000087793" "01410" "00112229" "00006" "Unknown" "" "Symptoms of stiff baby syndrome in the index patient (30-3, age=5 weeks) were diagnosed clinically shortly after birth, After birth, patient 30-3 suffered from severe muscular hypertonia and hyperreflexia." "" "" "" "" "" "" "" "" "" "" ""
"0000087794" "01410" "00112230" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000087795" "01410" "00112231" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000087796" "01410" "00112232" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000087797" "01410" "00112233" "00006" "Unknown" "" "male infant with generalized stiffness that was observed from the first 3 days of life. He showed marked improvement in the startle response and muscle hypertonia after being administered phenobarbital and clonazepam." "" "" "" "" "" "" "" "" "" "" ""
"0000087798" "01410" "00112234" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000087799" "01410" "00112235" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000128941" "01410" "00163755" "02447" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000242045" "01410" "00320001" "01164" "Unknown" "30y" "Abnormality of the nervous system, Motor seizure, Hyperexplexia, father also affected" "" "" "" "" "" "" "" "" "" "" ""
"0000269542" "00198" "00374332" "00006" "Familial, autosomal recessive" "" "Global developmental delay and microcephaly" "" "" "" "" "" "" "" "" "" "microcephaly" ""
"0000317275" "00139" "00426125" "00006" "Familial, autosomal recessive" "3y" "" "" "" "" "" "" "" "" "" "Hyperekplexia 1" "intellectual disability" ""
"0000317353" "05537" "00426125" "00006" "Familial, autosomal recessive" "03y" "" "" "" "" "" "" "" "" "" "OCA2" "oculocutaneous albinism" ""
"0000328302" "04270" "00438398" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures; HP:0001281 tetany; HP:0100033 tics" "12d" "" "" "" "" "" "" "" "" "epilepsy" ""
## Screenings ## Do not remove or alter this header ##
## Count = 43
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" ""
"0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000112660" "00112202" "1" "00006" "00006" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" ""
"0000112661" "00112203" "1" "00006" "00006" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" ""
"0000112662" "00112204" "1" "00006" "00006" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" ""
"0000112663" "00112205" "1" "00006" "00006" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" ""
"0000112664" "00112206" "1" "00006" "00006" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" ""
"0000112665" "00112207" "1" "00006" "00006" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" ""
"0000112666" "00112208" "1" "00006" "00006" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" ""
"0000112667" "00112209" "1" "00006" "00006" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" ""
"0000112668" "00112210" "1" "00006" "00006" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" ""
"0000112669" "00112211" "1" "00006" "00006" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" ""
"0000112670" "00112212" "1" "00006" "00006" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" ""
"0000112671" "00112213" "1" "00006" "00006" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" ""
"0000112672" "00112214" "1" "00006" "00006" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" ""
"0000112673" "00112215" "1" "00006" "00006" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" ""
"0000112674" "00112216" "1" "00006" "00006" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" ""
"0000112675" "00112217" "1" "00006" "00006" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" ""
"0000112676" "00112218" "1" "00006" "00006" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" ""
"0000112677" "00112219" "1" "00006" "00006" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" ""
"0000112678" "00112220" "1" "00006" "00006" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" ""
"0000112679" "00112221" "1" "00006" "00006" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" ""
"0000112680" "00112222" "1" "00006" "00006" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" ""
"0000112681" "00112223" "1" "00006" "00006" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" ""
"0000112682" "00112224" "1" "00006" "00006" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" ""
"0000112683" "00112225" "1" "00006" "00006" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" ""
"0000112684" "00112226" "1" "00006" "00006" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" ""
"0000112685" "00112227" "1" "00006" "00006" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" ""
"0000112686" "00112228" "1" "00006" "00006" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" ""
"0000112687" "00112229" "1" "00006" "00006" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" ""
"0000112688" "00112230" "1" "00006" "00006" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" ""
"0000112689" "00112231" "1" "00006" "00006" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" ""
"0000112690" "00112232" "1" "00006" "00006" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" ""
"0000112691" "00112233" "1" "00006" "00006" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" ""
"0000112692" "00112234" "1" "00006" "00006" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" ""
"0000112693" "00112235" "1" "00006" "00006" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" ""
"0000164618" "00163755" "1" "02447" "02447" "2018-04-09 17:57:18" "" "" "?" "DNA" "" ""
"0000294967" "00293799" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000321183" "00320001" "1" "01164" "01164" "2020-11-17 10:25:18" "" "" "SEQ-NG-I" "DNA" "" ""
"0000375526" "00374332" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel"
"0000427445" "00426125" "1" "00006" "00006" "2022-11-28 11:02:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000439880" "00438398" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000465983" "00464353" "1" "04459" "04459" "2025-03-06 07:58:59" "" "" "SEQ-NG" "DNA" "" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 38
"{{screeningid}}" "{{geneid}}"
"0000112660" "GLRA1"
"0000112661" "GLRA1"
"0000112662" "GLRA1"
"0000112663" "GLRA1"
"0000112664" "GLRA1"
"0000112665" "GLRA1"
"0000112666" "GLRA1"
"0000112667" "GLRA1"
"0000112668" "GLRA1"
"0000112669" "GLRA1"
"0000112670" "GLRA1"
"0000112671" "GLRA1"
"0000112672" "GLRA1"
"0000112673" "GLRA1"
"0000112674" "GLRA1"
"0000112675" "GLRA1"
"0000112676" "GLRA1"
"0000112677" "GLRA1"
"0000112678" "GLRA1"
"0000112679" "GLRA1"
"0000112680" "GLRA1"
"0000112681" "GLRA1"
"0000112682" "GLRA1"
"0000112683" "GLRA1"
"0000112684" "GLRA1"
"0000112685" "GLRA1"
"0000112686" "GLRA1"
"0000112687" "GLRA1"
"0000112688" "GLRA1"
"0000112689" "GLRA1"
"0000112690" "GLRA1"
"0000112691" "GLRA1"
"0000112692" "GLRA1"
"0000112693" "GLRA1"
"0000164618" "GLRA1"
"0000321183" "GLRA1"
"0000375526" "GLRA1"
"0000465983" "GLRA1"
## 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 = 84
"{{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}}"
"0000004231" "3" "50" "5" "151236039" "151236039" "subst" "0" "00037" "GLRA1_000016" "g.151236039A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.151856478A>G" "" "VUS" ""
"0000004232" "3" "50" "5" "151236117" "151236117" "subst" "0" "00037" "GLRA1_000017" "g.151236117T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.151856556T>C" "" "VUS" ""
"0000004233" "3" "50" "5" "151239290" "151239290" "subst" "0" "00037" "GLRA1_000018" "g.151239290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.151859729G>A" "" "VUS" ""
"0000004234" "3" "50" "5" "151239306" "151239306" "subst" "0.404937" "00037" "GLRA1_000019" "g.151239306T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.151859745T>C" "" "VUS" ""
"0000012220" "0" "50" "5" "151239290" "151239290" "subst" "0" "00037" "GLRA1_000018" "g.151239290G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.151859729G>A" "" "VUS" ""
"0000012221" "0" "50" "5" "151239306" "151239306" "subst" "0.404937" "00037" "GLRA1_000019" "g.151239306T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.151859745T>C" "" "VUS" ""
"0000181228" "3" "99" "5" "151231166" "151234600" "" "0" "00006" "GLRA1_000013" "g.(151231166_151234600del)_(151304111_?)del" "" "Leiden, unpublished" "" "ex1-6del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000181229" "3" "99" "5" "151231166" "151234600" "" "0" "00006" "GLRA1_000013" "g.(151231166_151234600del)_(151304111_?)del" "" "Leiden, unpublished" "" "ex1-6del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000181230" "0" "11" "5" "151304306" "151304306" "subst" "0" "00006" "GLRA1_000002" "g.151304306G>A" "" "Leiden, unpublished" "" "1-196C>T" "" "Germline" "" "" "0" "" "" "g.151924745G>A" "" "benign" ""
"0000181231" "0" "11" "5" "151304306" "151304306" "subst" "0" "00006" "GLRA1_000002" "g.151304306G>A" "" "Leiden, unpublished" "" "1-196C>T" "" "Germline" "" "" "0" "" "" "g.151924745G>A" "" "benign" ""
"0000181232" "3" "11" "5" "151304306" "151304306" "subst" "0" "00006" "GLRA1_000002" "g.151304306G>A" "" "Leiden, unpublished" "" "1-196C>T" "" "Germline" "" "" "0" "" "" "g.151924745G>A" "" "benign" ""
"0000181233" "0" "11" "5" "151304306" "151304306" "subst" "0" "00006" "GLRA1_000002" "g.151304306G>A" "" "Leiden, unpublished" "" "1-196C>T" "" "Germline" "" "" "0" "" "" "g.151924745G>A" "" "benign" ""
"0000181234" "0" "11" "5" "151304306" "151304306" "subst" "0" "00006" "GLRA1_000002" "g.151304306G>A" "" "Leiden, unpublished" "" "1-196C>T" "" "Germline" "" "" "0" "" "" "g.151924745G>A" "" "benign" ""
"0000181235" "3" "11" "5" "151304306" "151304306" "subst" "0" "00006" "GLRA1_000002" "g.151304306G>A" "" "Leiden, unpublished" "" "1-196C>T" "" "Germline" "" "" "0" "" "" "g.151924745G>A" "" "benign" ""
"0000181236" "3" "11" "5" "151304306" "151304306" "subst" "0" "00006" "GLRA1_000002" "g.151304306G>A" "" "Leiden, unpublished" "" "1-196C>T" "" "Germline" "" "" "0" "" "" "g.151924745G>A" "" "benign" ""
"0000181237" "0" "11" "5" "151304306" "151304306" "subst" "0" "00006" "GLRA1_000002" "g.151304306G>A" "" "Leiden, unpublished" "" "1-196C>T" "" "Germline" "" "" "0" "" "" "g.151924745G>A" "" "benign" ""
"0000181238" "0" "11" "5" "151304306" "151304306" "subst" "0" "00006" "GLRA1_000002" "g.151304306G>A" "" "Leiden, unpublished" "" "1-196C>T" "" "Germline" "" "" "0" "" "" "g.151924745G>A" "" "benign" ""
"0000181239" "0" "11" "5" "151304306" "151304306" "subst" "0" "00006" "GLRA1_000002" "g.151304306G>A" "" "Leiden, unpublished" "" "1-196C>T" "" "Germline" "" "" "0" "" "" "g.151924745G>A" "" "benign" ""
"0000181240" "0" "11" "5" "151304306" "151304306" "subst" "0" "00006" "GLRA1_000002" "g.151304306G>A" "" "Leiden, unpublished" "" "1-196C>T" "" "Germline" "" "" "0" "" "" "g.151924745G>A" "" "benign" ""
"0000181241" "3" "11" "5" "151304306" "151304306" "subst" "0" "00006" "GLRA1_000002" "g.151304306G>A" "" "Leiden, unpublished" "" "1-196C>T" "" "Germline" "" "" "0" "" "" "g.151924745G>A" "" "benign" ""
"0000181242" "0" "11" "5" "151304306" "151304306" "subst" "0" "00006" "GLRA1_000002" "g.151304306G>A" "" "Leiden, unpublished" "" "1-196C>T" "" "Germline" "" "" "0" "" "" "g.151924745G>A" "" "benign" ""
"0000181243" "3" "11" "5" "151304306" "151304306" "subst" "0" "00006" "GLRA1_000002" "g.151304306G>A" "" "Leiden, unpublished" "" "1-196C>T" "" "Germline" "" "" "0" "" "" "g.151924745G>A" "" "benign" ""
"0000181244" "3" "11" "5" "151304306" "151304306" "subst" "0" "00006" "GLRA1_000002" "g.151304306G>A" "" "Leiden, unpublished" "" "1-196C>T" "" "Germline" "" "" "0" "" "" "g.151924745G>A" "" "benign" ""
"0000181245" "0" "11" "5" "151304306" "151304306" "subst" "0" "00006" "GLRA1_000002" "g.151304306G>A" "" "Leiden, unpublished" "" "1-196C>T" "" "Germline" "" "" "0" "" "" "g.151924745G>A" "" "benign" ""
"0000181246" "0" "11" "5" "151304306" "151304306" "subst" "0" "00006" "GLRA1_000002" "g.151304306G>A" "" "Leiden, unpublished" "" "1-196C>T" "" "Germline" "" "" "0" "" "" "g.151924745G>A" "" "benign" ""
"0000181247" "0" "11" "5" "151304306" "151304306" "subst" "0" "00006" "GLRA1_000002" "g.151304306G>A" "" "Leiden, unpublished" "" "1-196C>T" "" "Germline" "" "" "0" "" "" "g.151924745G>A" "" "benign" ""
"0000181248" "0" "11" "5" "151304306" "151304306" "subst" "0" "00006" "GLRA1_000002" "g.151304306G>A" "" "Leiden, unpublished" "" "1-196C>T" "" "Germline" "" "" "0" "" "" "g.151924745G>A" "" "benign" ""
"0000181249" "0" "11" "5" "151304012" "151304012" "subst" "3.27065E-5" "00006" "GLRA1_000004" "g.151304012C>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.151924451C>T" "" "benign" ""
"0000181250" "0" "55" "5" "151271939" "151271939" "subst" "0.00150807" "00006" "GLRA1_000001" "g.151271939C>G" "" "Leiden, unpublished" "" "413G>C" "" "Germline" "" "" "0" "" "" "g.151892378C>G" "" "VUS" ""
"0000181251" "0" "99" "5" "151239523" "151239523" "subst" "8.12255E-6" "00006" "GLRA1_000003" "g.151239523C>T" "" "Leiden, unpublished" "" "595G>A" "" "Germline" "" "" "0" "" "" "g.151859962C>T" "" "pathogenic" ""
"0000181252" "0" "99" "5" "151231096" "151231096" "subst" "0" "00006" "GLRA1_000005" "g.151231096T>C" "" "Leiden, unpublished" "" "1063A>G" "" "Germline" "" "" "0" "" "" "g.151851535T>C" "" "pathogenic" ""
"0000181253" "3" "99" "5" "151231096" "151231096" "subst" "0" "00006" "GLRA1_000005" "g.151231096T>C" "" "Leiden, unpublished" "" "1063A>G" "" "Germline" "" "" "0" "" "" "g.151851535T>C" "" "pathogenic" ""
"0000181254" "0" "99" "5" "151231086" "151231086" "subst" "0" "00006" "GLRA1_000006" "g.151231086G>C" "" "Humeny [2002]" "" "C1073G" "" "Germline" "" "" "0" "" "" "g.151851525G>C" "" "pathogenic" ""
"0000181255" "0" "99" "5" "151231031" "151231031" "subst" "0" "00006" "GLRA1_000007" "g.151231031G>T" "" "Saul [1999]" "" "C1128A" "" "Germline" "" "" "0" "" "" "g.151851470G>T" "" "pathogenic" ""
"0000181256" "0" "99" "5" "151230979" "151230979" "subst" "0" "00006" "GLRA1_000008" "g.151230979C>T" "" "Becker [2007]" "" "1180G>A" "" "Germline" "" "" "0" "" "" "g.151851418C>T" "" "pathogenic" ""
"0000181257" "0" "99" "5" "151230971" "151230971" "subst" "0" "00006" "GLRA1_000009" "g.151230971A>T" "" "Lapunzina [2003]" "" "T1188A" "" "Germline" "" "" "0" "" "" "g.151851410A>T" "" "pathogenic" ""
"0000181258" "0" "99" "5" "151230967" "151230967" "subst" "0" "00006" "GLRA1_000010" "g.151230967C>T" "" "Leiden, unpublished" "" "1192G>A" "" "Germline" "" "" "0" "" "" "g.151851406C>T" "" "pathogenic" ""
"0000181259" "0" "99" "5" "151230967" "151230967" "subst" "0" "00006" "GLRA1_000010" "g.151230967C>T" "" "Leiden, unpublished" "" "1192G>A" "" "Germline" "" "" "0" "" "" "g.151851406C>T" "" "pathogenic" ""
"0000181260" "0" "99" "5" "151230967" "151230967" "subst" "0" "00006" "GLRA1_000010" "g.151230967C>T" "" "Elmslie [1996]" "" "1192G>A" "" "Germline" "" "" "0" "" "" "g.151851406C>T" "" "pathogenic" ""
"0000181261" "0" "99" "5" "151230967" "151230967" "subst" "0" "00006" "GLRA1_000010" "g.151230967C>T" "" "Leiden, unpublished" "" "1192G>A" "" "Germline" "" "" "0" "" "" "g.151851406C>T" "" "pathogenic" ""
"0000181262" "0" "99" "5" "151230953" "151230953" "subst" "0" "00006" "GLRA1_000015" "g.151230953T>G" "" "Kang [2008]" "" "1206A>C" "" "Germline" "" "" "0" "" "" "g.151851392T>G" "" "pathogenic" ""
"0000181263" "0" "99" "5" "151230953" "151230953" "subst" "0" "00006" "GLRA1_000011" "g.151230953T>C" "" "Elmslie [1996]" "" "1206A>G" "" "Germline" "" "" "0" "" "" "g.151851392T>C" "" "pathogenic" ""
"0000181264" "0" "55" "5" "151208624" "151208624" "subst" "0" "00006" "GLRA1_000012" "g.151208624G>T" "" "Leiden, unpublished" "" "1213C>A" "" "Germline" "" "" "0" "" "" "g.151829063G>T" "" "VUS" ""
"0000181265" "0" "55" "5" "151208500" "151208500" "subst" "0.0162234" "00006" "GLRA1_000014" "g.151208500C>T" "" "Leiden, unpublished" "" "1337G>A" "" "Germline" "" "" "0" "" "" "g.151828939C>T" "" "VUS" ""
"0000281082" "0" "10" "5" "151202476" "151202476" "subst" "0.00974007" "02325" "GLRA1_000021" "g.151202476C>T" "" "" "" "GLRA1(NM_001146040.2):c.1132G>A (p.G378S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151822915C>T" "" "benign" ""
"0000284713" "0" "10" "5" "151202697" "151202697" "subst" "0" "02326" "GLRA1_000022" "g.151202697T>A" "" "" "" "GLRA1(NM_001146040.2):c.1060-149A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151823136T>A" "" "benign" ""
"0000284714" "0" "10" "5" "151202476" "151202476" "subst" "0.00974007" "02326" "GLRA1_000021" "g.151202476C>T" "" "" "" "GLRA1(NM_001146040.2):c.1132G>A (p.G378S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151822915C>T" "" "benign" ""
"0000284715" "0" "30" "5" "151202403" "151202403" "subst" "0.00347318" "02326" "GLRA1_000020" "g.151202403G>A" "" "" "" "GLRA1(NM_001146040.2):c.1205C>T (p.P402L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151822842G>A" "" "likely benign" ""
"0000284716" "0" "10" "5" "151266358" "151266358" "subst" "1.2199E-5" "02326" "GLRA1_000026" "g.151266358C>T" "" "" "" "GLRA1(NM_001146040.2):c.185-9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151886797C>T" "" "benign" ""
"0000284717" "0" "30" "5" "151239235" "151239235" "subst" "0" "02326" "GLRA1_000024" "g.151239235T>G" "" "" "" "GLRA1(NM_001146040.2):c.476+111A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151859674T>G" "" "likely benign" ""
"0000284718" "0" "30" "5" "151208626" "151208626" "subst" "0.000101839" "02326" "GLRA1_000023" "g.151208626C>T" "" "" "" "GLRA1(NM_001146040.2):c.915G>A (p.V305=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151829065C>T" "" "likely benign" ""
"0000330708" "0" "50" "5" "151239517" "151239517" "subst" "0" "01804" "GLRA1_000025" "g.151239517G>A" "" "" "" "GLRA1(NM_000171.3):c.305C>T (p.(Ala102Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151859956G>A" "" "VUS" ""
"0000343751" "0" "50" "5" "151202410" "151202410" "subst" "2.4376E-5" "02327" "GLRA1_000027" "g.151202410T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151822849T>C" "" "VUS" ""
"0000344377" "0" "50" "5" "151202467" "151202467" "subst" "0" "02327" "GLRA1_000028" "g.151202467A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151822906A>G" "" "VUS" ""
"0000368175" "21" "90" "5" "151208599" "151208599" "subst" "0" "02447" "GLRA1_000029" "g.151208599C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.151829038C>T" "" "pathogenic" ""
"0000368176" "0" "30" "5" "151266335" "151266335" "subst" "0.000158538" "02447" "GLRA1_000030" "g.151266335C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.151886774C>T" "" "likely benign" ""
"0000525026" "0" "50" "5" "151202344" "151202344" "subst" "0" "02325" "GLRA1_000031" "g.151202344T>G" "" "" "" "GLRA1(NM_001146040.2):c.1264A>C (p.K422Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.151822783T>G" "" "VUS" ""
"0000525029" "0" "50" "5" "151208546" "151208546" "subst" "0" "02327" "GLRA1_000032" "g.151208546A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.151828985A>T" "" "VUS" ""
"0000525030" "0" "30" "5" "151235854" "151235854" "subst" "0.00412236" "02326" "GLRA1_000033" "g.151235854A>C" "" "" "" "GLRA1(NM_001146040.2):c.559+8T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.151856293A>C" "" "likely benign" ""
"0000525031" "0" "50" "5" "151266335" "151266335" "subst" "0.000158538" "02325" "GLRA1_000030" "g.151266335C>T" "" "" "" "GLRA1(NM_000171.4):c.199G>A (p.(Val67Met)), GLRA1(NM_001146040.2):c.199G>A (p.V67M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.151886774C>T" "" "VUS" ""
"0000525032" "0" "30" "5" "151272011" "151272011" "subst" "0.000468657" "02326" "GLRA1_000034" "g.151272011G>A" "" "" "" "GLRA1(NM_001146040.2):c.57-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.151892450G>A" "" "likely benign" ""
"0000651656" "1" "30" "5" "151208500" "151208500" "subst" "0.0162234" "03575" "GLRA1_000014" "g.151208500C>T" "21/2790 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "21 heterozygous, no homozygous; {DB:CLININrs75463357}" "Germline" "" "rs75463357" "0" "" "" "g.151828939C>T" "" "likely benign" ""
"0000703988" "0" "90" "5" "151230967" "151230967" "subst" "0" "01164" "GLRA1_000010" "g.151230967C>T" "" "PMID: 8298642, 8733061, 28138086, 28122427, 7518444, 7881416, 8298642)" "" "" "ACMG: PS4, PM2, PM5, PP1, PP4 class 5" "Germline" "?" "" "" "" "" "" "" "pathogenic (dominant)" "ACMG"
"0000720309" "0" "30" "5" "151202418" "151202418" "subst" "0.000170666" "01943" "GLRA1_000035" "g.151202418T>G" "" "" "" "GLRA1(NM_001146040.1):c.1190A>C (p.N397T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000720310" "0" "30" "5" "151208548" "151208548" "subst" "0.00109036" "02326" "GLRA1_000036" "g.151208548G>A" "" "" "" "GLRA1(NM_000171.4):c.993C>T (p.A331=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000720311" "0" "30" "5" "151266291" "151266291" "subst" "0" "01943" "GLRA1_000037" "g.151266291C>T" "" "" "" "GLRA1(NM_001146040.1):c.243G>A (p.E81=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000720312" "0" "50" "5" "151266341" "151266341" "subst" "4.0656E-6" "02329" "GLRA1_000038" "g.151266341C>T" "" "" "" "GLRA1(NM_001146040.1):c.193G>A (p.V65M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000786877" "3" "70" "5" "151231024" "151231024" "subst" "2.43667E-5" "00006" "GLRA1_000039" "g.151231024C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.151851463C>T" "" "likely pathogenic" ""
"0000801983" "0" "30" "5" "151234746" "151234746" "subst" "4.06098E-6" "01943" "GLRA1_000040" "g.151234746G>A" "" "" "" "GLRA1(NM_001146040.1):c.560-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000801984" "0" "30" "5" "151271939" "151271939" "subst" "0.00150807" "02326" "GLRA1_000001" "g.151271939C>G" "" "" "" "GLRA1(NM_000171.4):c.117G>C (p.S39=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000904805" "3" "70" "5" "151208493" "151208494" "del" "0" "00006" "GLRA1_000041" "g.151208493_151208494del" "" "{PMID:Al-Kasbi 2022:36344539}" "" "NM_001292000.2:c.800_801del (Arg267ThrfsTer6)" "" "Germline" "" "" "0" "" "" "g.151828932_151828933del" "" "likely pathogenic (recessive)" ""
"0000924284" "0" "50" "5" "151235934" "151235934" "subst" "0" "02325" "GLRA1_000042" "g.151235934T>C" "" "" "" "GLRA1(NM_000171.4):c.487A>G (p.T163A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000936009" "0" "70" "5" "151208492" "151208492" "subst" "0" "00006" "GLRA1_000043" "g.151208492C>T" "" "{PMID:Chuan 2022:35571021}" "" "" "ACMG PM1,PM2,PP3,PP4" "Germline/De novo (untested)" "" "" "0" "" "" "g.151828931C>T" "" "likely pathogenic (dominant)" "ACMG"
"0000976675" "0" "50" "5" "151266335" "151266335" "subst" "0.000158538" "01804" "GLRA1_000030" "g.151266335C>T" "" "" "" "GLRA1(NM_000171.4):c.199G>A (p.(Val67Met)), GLRA1(NM_001146040.2):c.199G>A (p.V67M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000994820" "0" "30" "5" "151202370" "151202370" "subst" "0.000272176" "01804" "GLRA1_000045" "g.151202370C>T" "" "" "" "GLRA1(NM_000171.3):c.1214G>A (p.(Arg405Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000994821" "0" "70" "5" "151208481" "151208481" "subst" "0" "01804" "GLRA1_000046" "g.151208481C>T" "" "" "" "GLRA1(NM_000171.3):c.1059+1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000994822" "0" "50" "5" "151208495" "151208495" "subst" "0" "02327" "GLRA1_000047" "g.151208495C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000994823" "0" "50" "5" "151231091" "151231091" "subst" "4.06098E-6" "01804" "GLRA1_000048" "g.151231091G>T" "" "" "" "GLRA1(NM_000171.3):c.772C>A (p.(Pro258Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000994824" "0" "50" "5" "151239497" "151239497" "subst" "0" "01804" "GLRA1_000049" "g.151239497C>T" "" "" "" "GLRA1(NM_000171.3):c.325G>A (p.(Asp109Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001025060" "0" "90" "5" "151202325" "151202325" "subst" "4.87599E-5" "02325" "GLRA1_000050" "g.151202325C>T" "" "" "" "GLRA1(NM_000171.4):c.1259G>A (p.R420H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001029793" "11" "90" "5" "151208511" "151208511" "subst" "5.28834E-5" "04459" "GLRA1_000052" "g.151208511G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.151828950G>A" "" "pathogenic (recessive)" ""
"0001029794" "21" "90" "5" "151239530" "151239530" "subst" "1.21848E-5" "04459" "GLRA1_000051" "g.151239530C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.151859969C>T" "" "pathogenic (recessive)" ""
"0001035047" "0" "50" "5" "151202371" "151202371" "subst" "0" "01804" "GLRA1_000053" "g.151202371G>C" "" "" "" "GLRA1(NM_000171.4):c.1213C>G (p.(Arg405Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001035048" "0" "70" "5" "151208620" "151208620" "del" "0" "01804" "GLRA1_000054" "g.151208620del" "" "" "" "GLRA1(NM_000171.4):c.921del (p.(Tyr307*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
## 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 GLRA1
## Count = 84
"{{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}}"
"0000004231" "00024307" "50" "477" "-95" "477" "-95" "c.477-95T>C" "r.(?)" "p.(=)" "4i"
"0000004232" "00024307" "50" "477" "-173" "477" "-173" "c.477-173A>G" "r.(?)" "p.(=)" "4i"
"0000004233" "00024307" "50" "476" "56" "476" "56" "c.476+56C>T" "r.(?)" "p.(=)" "4i"
"0000004234" "00024307" "50" "476" "40" "476" "40" "c.476+40A>G" "r.(?)" "p.(=)" "4i"
"0000012220" "00024307" "50" "476" "56" "476" "56" "c.476+56C>T" "r.(?)" "p.(=)" "4i"
"0000012221" "00024307" "50" "476" "40" "476" "40" "c.476+40A>G" "r.(?)" "p.(=)" "4i"
"0000181228" "00024307" "99" "-1" "0" "697" "1" "c.(?_-1)_(697+1_698-1)del" "r.0?" "p.0?" "_1_6i"
"0000181229" "00024307" "99" "-1" "0" "697" "1" "c.(?_-1)_(697+1_698-1)del" "r.0?" "p.0?" "_1_6i"
"0000181230" "00024307" "11" "-196" "0" "-196" "0" "c.-196C>T" "r.(?)" "p.(=)" "1"
"0000181231" "00024307" "11" "-196" "0" "-196" "0" "c.-196C>T" "r.(?)" "p.(=)" "1"
"0000181232" "00024307" "11" "-196" "0" "-196" "0" "c.-196C>T" "r.(?)" "p.(=)" "1"
"0000181233" "00024307" "11" "-196" "0" "-196" "0" "c.-196C>T" "r.(?)" "p.(=)" "1"
"0000181234" "00024307" "11" "-196" "0" "-196" "0" "c.-196C>T" "r.(?)" "p.(=)" "1"
"0000181235" "00024307" "11" "-196" "0" "-196" "0" "c.-196C>T" "r.(?)" "p.(=)" "1"
"0000181236" "00024307" "11" "-196" "0" "-196" "0" "c.-196C>T" "r.(?)" "p.(=)" "1"
"0000181237" "00024307" "11" "-196" "0" "-196" "0" "c.-196C>T" "r.(?)" "p.(=)" "1"
"0000181238" "00024307" "11" "-196" "0" "-196" "0" "c.-196C>T" "r.(?)" "p.(=)" "1"
"0000181239" "00024307" "11" "-196" "0" "-196" "0" "c.-196C>T" "r.(?)" "p.(=)" "1"
"0000181240" "00024307" "11" "-196" "0" "-196" "0" "c.-196C>T" "r.(?)" "p.(=)" "1"
"0000181241" "00024307" "11" "-196" "0" "-196" "0" "c.-196C>T" "r.(?)" "p.(=)" "1"
"0000181242" "00024307" "11" "-196" "0" "-196" "0" "c.-196C>T" "r.(?)" "p.(=)" "1"
"0000181243" "00024307" "11" "-196" "0" "-196" "0" "c.-196C>T" "r.(?)" "p.(=)" "1"
"0000181244" "00024307" "11" "-196" "0" "-196" "0" "c.-196C>T" "r.(?)" "p.(=)" "1"
"0000181245" "00024307" "11" "-196" "0" "-196" "0" "c.-196C>T" "r.(?)" "p.(=)" "1"
"0000181246" "00024307" "11" "-196" "0" "-196" "0" "c.-196C>T" "r.(?)" "p.(=)" "1"
"0000181247" "00024307" "11" "-196" "0" "-196" "0" "c.-196C>T" "r.(?)" "p.(=)" "1"
"0000181248" "00024307" "11" "-196" "0" "-196" "0" "c.-196C>T" "r.(?)" "p.(=)" "1"
"0000181249" "00024307" "11" "56" "43" "56" "43" "c.56+43G>A" "r.(?)" "p.(=)" "1"
"0000181250" "00024307" "55" "117" "0" "117" "0" "c.117G>C" "r.(?)" "p.(Ser39Ser)" "2"
"0000181251" "00024307" "99" "299" "0" "299" "0" "c.299G>A" "r.(?)" "p.(Arg100His)" "5"
"0000181252" "00024307" "99" "767" "0" "767" "0" "c.767A>G" "r.(?)" "p.(Tyr256Cys)" "7"
"0000181253" "00024307" "99" "767" "0" "767" "0" "c.767A>G" "r.(?)" "p.(Tyr256Cys)" "7"
"0000181254" "00024307" "99" "777" "0" "777" "0" "c.777C>G" "r.(?)" "p.(Ser259Arg)" "7"
"0000181255" "00024307" "99" "832" "0" "832" "0" "c.832C>A" "r.(?)" "p.(Pro278Thr)" "7"
"0000181256" "00024307" "99" "884" "0" "884" "0" "c.884G>A" "r.(?)" "p.(Ser295Asn)" "7"
"0000181257" "00024307" "99" "892" "0" "892" "0" "c.892T>A" "r.(?)" "p.(Ser298Thr)" "7"
"0000181258" "00024307" "99" "896" "0" "896" "0" "c.896G>A" "r.(?)" "p.(Arg299Gln)" "7"
"0000181259" "00024307" "99" "896" "0" "896" "0" "c.896G>A" "r.(?)" "p.(Arg299Gln)" "7"
"0000181260" "00024307" "99" "896" "0" "896" "0" "c.896G>A" "r.(?)" "p.(Arg299Gln)" "7"
"0000181261" "00024307" "99" "896" "0" "896" "0" "c.896G>A" "r.(?)" "p.(Arg299Gln)" "7"
"0000181262" "00024307" "99" "910" "0" "910" "0" "c.910A>C" "r.(?)" "p.(Lys304Gln)" "7"
"0000181263" "00024307" "99" "910" "0" "910" "0" "c.910A>G" "r.(?)" "p.(Lys304Glu)" "7"
"0000181264" "00024307" "55" "917" "0" "917" "0" "c.917C>A" "r.(?)" "p.(Ser306Tyr)" "8"
"0000181265" "00024307" "55" "1041" "0" "1041" "0" "c.1041G>A" "r.(?)" "p.(Arg347Arg)" "8"
"0000281082" "00024307" "10" "1132" "0" "1132" "0" "c.1132G>A" "r.(?)" "p.(Gly378Ser)" ""
"0000284713" "00024307" "10" "1060" "-149" "1060" "-149" "c.1060-149A>T" "r.(=)" "p.(=)" ""
"0000284714" "00024307" "10" "1132" "0" "1132" "0" "c.1132G>A" "r.(?)" "p.(Gly378Ser)" ""
"0000284715" "00024307" "30" "1205" "0" "1205" "0" "c.1205C>T" "r.(?)" "p.(Pro402Leu)" ""
"0000284716" "00024307" "10" "185" "-9" "185" "-9" "c.185-9G>A" "r.(=)" "p.(=)" ""
"0000284717" "00024307" "30" "476" "111" "476" "111" "c.476+111A>C" "r.(=)" "p.(=)" ""
"0000284718" "00024307" "30" "915" "0" "915" "0" "c.915G>A" "r.(?)" "p.(Val305=)" ""
"0000330708" "00024307" "50" "305" "0" "305" "0" "c.305C>T" "r.(?)" "p.(Ala102Val)" ""
"0000343751" "00024307" "50" "1198" "0" "1198" "0" "c.1198A>G" "r.(?)" "p.(Asn400Asp)" ""
"0000344377" "00024307" "50" "1141" "0" "1141" "0" "c.1141T>C" "r.(?)" "p.(Cys381Arg)" ""
"0000368175" "00024307" "90" "942" "0" "942" "0" "c.942G>A" "r.(?)" "p.(Trp314*)" ""
"0000368176" "00024307" "30" "199" "0" "199" "0" "c.199G>A" "r.(?)" "p.(Val67Met)" ""
"0000525026" "00024307" "50" "1264" "0" "1264" "0" "c.1264A>C" "r.(?)" "p.(Lys422Gln)" ""
"0000525029" "00024307" "50" "995" "0" "995" "0" "c.995T>A" "r.(?)" "p.(Val332Asp)" ""
"0000525030" "00024307" "30" "559" "8" "559" "8" "c.559+8T>G" "r.(=)" "p.(=)" ""
"0000525031" "00024307" "50" "199" "0" "199" "0" "c.199G>A" "r.(?)" "p.(Val67Met)" ""
"0000525032" "00024307" "30" "57" "-12" "57" "-12" "c.57-12C>T" "r.(=)" "p.(=)" ""
"0000651656" "00024307" "30" "1041" "0" "1041" "0" "c.1041G>A" "r.(=)" "p.(=)" ""
"0000703988" "00024307" "90" "896" "0" "896" "0" "c.896G>A" "r.(?)" "p.(Arg299Gln)" "7"
"0000720309" "00024307" "30" "1190" "0" "1190" "0" "c.1190A>C" "r.(?)" "p.(Asn397Thr)" ""
"0000720310" "00024307" "30" "993" "0" "993" "0" "c.993C>T" "r.(?)" "p.(Ala331=)" ""
"0000720311" "00024307" "30" "243" "0" "243" "0" "c.243G>A" "r.(?)" "p.(Glu81=)" ""
"0000720312" "00024307" "50" "193" "0" "193" "0" "c.193G>A" "r.(?)" "p.(Val65Met)" ""
"0000786877" "00024307" "70" "839" "0" "839" "0" "c.839G>A" "r.(?)" "p.(Arg280His)" "7"
"0000801983" "00024307" "30" "560" "-8" "560" "-8" "c.560-8C>T" "r.(=)" "p.(=)" ""
"0000801984" "00024307" "30" "117" "0" "117" "0" "c.117G>C" "r.(?)" "p.(Ser39=)" ""
"0000904805" "00024307" "70" "1047" "0" "1048" "0" "c.1047_1048del" "" "" ""
"0000924284" "00024307" "50" "487" "0" "487" "0" "c.487A>G" "r.(?)" "p.(Thr163Ala)" ""
"0000936009" "00024307" "70" "1049" "0" "1049" "0" "c.1049G>A" "r.(?)" "p.(Arg350Lys)" ""
"0000976675" "00024307" "50" "199" "0" "199" "0" "c.199G>A" "r.(?)" "p.(Val67Met)" ""
"0000994820" "00024307" "30" "1238" "0" "1238" "0" "c.1238G>A" "r.(?)" "p.(Arg413Gln)" ""
"0000994821" "00024307" "70" "1059" "1" "1059" "1" "c.1059+1G>A" "r.spl?" "p.?" ""
"0000994822" "00024307" "50" "1046" "0" "1046" "0" "c.1046G>T" "r.(?)" "p.(Arg349Leu)" ""
"0000994823" "00024307" "50" "772" "0" "772" "0" "c.772C>A" "r.(?)" "p.(Pro258Thr)" ""
"0000994824" "00024307" "50" "325" "0" "325" "0" "c.325G>A" "r.(?)" "p.(Asp109Asn)" ""
"0001025060" "00024307" "90" "1283" "0" "1283" "0" "c.1283G>A" "r.(?)" "p.(Arg428His)" ""
"0001029793" "00024307" "90" "1030" "0" "1030" "0" "c.1030C>T" "r.(?)" "p.(Arg344*)" ""
"0001029794" "00024307" "90" "292" "0" "292" "0" "c.292G>A" "r.(?)" "p.(Asp98Asn)" ""
"0001035047" "00024307" "50" "1237" "0" "1237" "0" "c.1237C>G" "r.(?)" "p.(Arg413Gly)" ""
"0001035048" "00024307" "70" "921" "0" "921" "0" "c.921del" "r.(?)" "p.(Tyr307*)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 53
"{{screeningid}}" "{{variantid}}"
"0000000209" "0000004231"
"0000000209" "0000004232"
"0000000209" "0000004233"
"0000000209" "0000004234"
"0000000210" "0000012220"
"0000000210" "0000012221"
"0000112660" "0000181228"
"0000112661" "0000181229"
"0000112662" "0000181230"
"0000112663" "0000181231"
"0000112664" "0000181232"
"0000112664" "0000181258"
"0000112665" "0000181233"
"0000112666" "0000181234"
"0000112667" "0000181235"
"0000112668" "0000181236"
"0000112668" "0000181249"
"0000112669" "0000181237"
"0000112669" "0000181259"
"0000112670" "0000181238"
"0000112671" "0000181239"
"0000112672" "0000181240"
"0000112673" "0000181241"
"0000112674" "0000181242"
"0000112675" "0000181243"
"0000112676" "0000181244"
"0000112677" "0000181245"
"0000112678" "0000181246"
"0000112679" "0000181247"
"0000112680" "0000181248"
"0000112681" "0000181250"
"0000112681" "0000181264"
"0000112682" "0000181251"
"0000112683" "0000181252"
"0000112684" "0000181253"
"0000112685" "0000181254"
"0000112686" "0000181255"
"0000112687" "0000181256"
"0000112688" "0000181257"
"0000112689" "0000181260"
"0000112690" "0000181261"
"0000112691" "0000181262"
"0000112692" "0000181263"
"0000112693" "0000181265"
"0000164618" "0000368175"
"0000164618" "0000368176"
"0000294967" "0000651656"
"0000321183" "0000703988"
"0000375526" "0000786877"
"0000427445" "0000904805"
"0000439880" "0000936009"
"0000465983" "0001029793"
"0000465983" "0001029794"