### 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" "2025-11-01 13:22:20"
## 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 = 7
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"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" "" ""
"05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21"
## 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 = 44
"{{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" "" "" "" "" "" "" "" "" "" "" ""
"00467796" "" "" "" "2" "" "00006" "{PMID:Charng 2016:27435318}" "2-generation family, affected brothers, unaffected heterozygous carrier parents" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam015PatBAB6712"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 45
"{{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"
"00467796" "05611"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 01157, 01410, 04270, 05537, 05611
## Count = 43
"{{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" ""
"0000352949" "05611" "00467796" "00006" "Familial, autosomal recessive" "" "developmental delay, attention deficit hyperactivity disorder, seizures, brain atrophy, thin corpus callosum" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" ""
## Screenings ## Do not remove or alter this header ##
## Count = 44
"{{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" "" ""
"0000469462" "00467796" "1" "00006" "00006" "2025-10-30 10:25:01" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
## 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 = 86
"{{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" ""
"0001049777" "3" "50" "5" "151202370" "151202370" "subst" "0.000272176" "00006" "GLRA1_000045" "g.151202370C>T" "" "{PMID:Charng 2016:27435318}" "" "" "ACMG PP1, PP3" "Germline" "" "" "0" "" "" "g.151822809C>T" "" "VUS" ""
"0001052173" "0" "50" "5" "151202259" "151202259" "subst" "6.09716E-5" "01804" "GLRA1_000055" "g.151202259C>T" "" "" "" "GLRA1(NM_000171.4):c.1325G>A (p.(Arg442His))" "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 GLRA1
## Count = 86
"{{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*)" ""
"0001049777" "00024307" "50" "1214" "0" "1214" "0" "c.1214G>A" "r.(?)" "p.(Arg405Gln)" ""
"0001052173" "00024307" "50" "1349" "0" "1349" "0" "c.1349G>A" "r.(?)" "p.(Arg450His)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 54
"{{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"
"0000469462" "0001049777"