### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ATF6) # 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}}" "ATF6" "activating transcription factor 6" "1" "q22-q23" "unknown" "NG_029773.1" "UD_136018041081" "" "https://www.LOVD.nl/ATF6" "" "1" "791" "22926" "605537" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/ATF6_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-03-13 09:52:25" "00000" "2023-01-11 15:44:22" ## 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}}" "00003024" "ATF6" "activating transcription factor 6" "001" "NM_007348.3" "" "NP_031374.2" "" "" "" "-117" "7429" "2013" "161736034" "161933860" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00058" "CORD" "dystrophy, cone-rod (CORD)" "" "" "" "" "" "00006" "2012-09-22 11:31:25" "00006" "2020-08-30 09:43:59" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04230" "ACHM" "achromatopsia (ACHM)" "" "" "" "" "" "00006" "2015-03-22 20:43:12" "" "" "04366" "ACHM7" "achromatopsia, type 7 (ACHM-7)" "AR" "616517" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ATF6" "04230" "ATF6" "04366" ## Individuals ## Do not remove or alter this header ## ## Count = 48 "{{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}}" "00092350" "" "" "" "2" "" "01859" "" "2-generation family, affected brother/sister" "M" "" "Poland" "" "0" "" "" "" "brother" "00100409" "" "" "00092350" "1" "" "01859" "" "" "F" "?" "Poland" "" "0" "" "" "" "sister" "00289569" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289570" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00308599" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 homozygous patient" "" "" "Norway" "" "0" "" "" "" "" "00328056" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Asia-South" "G001437" "00328278" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Asia-South" "W000143" "00331297" "" "" "" "1" "" "00000" "{PMID:Wawrocka 2018:29769798}" "" "" "" "Poland" "" "0" "" "" "" "Fam17" "00362924" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2016:26766544}" "family" "" "" "Germany" "" "0" "" "" "" "CHRO436" "00380137" "" "" "" "1" "" "00000" "{PMID:Patel 2018:30054919}" "" "" "likely" "Saudi Arabia" "" "0" "" "" "" "13DG0012" "00389684" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 436, achromatopsia, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "968" "00389685" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 436, achromatopsia, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "969" "00390167" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G001437" "00390168" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "W000143" "00391879" "" "" "" "1" "" "00000" "{PMID:Sun 2020:32913385}" "" "F" "" "China" "" "0" "" "" "" "14542" "00391880" "" "" "" "1" "" "00000" "{PMID:Sun 2020:32913385}" "early childhood onset defined as younger than 8y" "F" "" "China" "" "0" "" "" "" "16187" "00415218" "" "" "" "1" "" "00000" "{PMID:Kohl 2015:26029869}" "Family CHRO282, patient II:1" "M" "" "" "" "0" "" "" "South Tyrolean" "CHRO282-II:1" "00415219" "" "" "" "1" "" "00000" "{PMID:Kohl 2015:26029869}" "Family CHRO628, patient II:2" "M" "" "" "" "0" "" "" "Irish" "CHRO628-II:2" "00415220" "" "" "" "1" "" "00000" "{PMID:Kohl 2015:26029869}" "Family CHRO628, patient II:4" "F" "" "" "" "0" "" "" "Irish" "CHRO628-II:4" "00415221" "" "" "" "1" "" "00000" "{PMID:Kohl 2015:26029869}" "Family CHRO628, patient II:6" "F" "" "" "" "0" "" "" "Irish" "CHRO628-II:6" "00415222" "" "" "" "1" "" "00000" "{PMID:Kohl 2015:26029869}" "Family CHRO91, patient II:1" "F" "" "" "" "0" "" "" "British" "CHRO91-II:1" "00415223" "" "" "" "1" "" "00000" "{PMID:Kohl 2015:26029869}" "Family CHRO91, patient II:2" "F" "" "" "" "0" "" "" "British" "CHRO91-II:2" "00415224" "" "" "" "1" "" "00000" "{PMID:Kohl 2015:26029869}" "Family CHRO91, patient II:3" "M" "" "" "" "0" "" "" "British" "CHRO91-II:3" "00415225" "" "" "" "1" "" "00000" "{PMID:Kohl 2015:26029869}" "Family CHRO709, patient II:1" "F" "" "" "" "0" "" "" "Asian-Indian" "CHRO709-II:1" "00415226" "" "" "" "1" "" "00000" "{PMID:Kohl 2015:26029869}" "Family CHRO709, patient II:2" "F" "" "" "" "0" "" "" "Asian-Indian" "CHRO709-II:2" "00415227" "" "" "" "1" "" "00000" "{PMID:Kohl 2015:26029869}" "Family CHRO593, patient IV:1" "M" "" "" "" "0" "" "" "French-Canadian" "CHRO593-IV:1" "00415228" "" "" "" "1" "" "00000" "{PMID:Kohl 2015:26029869}" "Family CHRO593, patient II:3" "M" "" "" "" "0" "" "" "French-Canadian" "CHRO593-II:3" "00415229" "" "" "" "1" "" "00000" "{PMID:Kohl 2015:26029869}" "Family MOGL411, patient MOGL467, patient III:4" "F" "" "" "" "0" "" "" "French-Canadian" "MOGL411-MOGL467-III:4" "00415230" "" "" "" "1" "" "00000" "{PMID:Kohl 2015:26029869}" "Family MOGL411, patient MOGL467, patient IV:1" "M" "" "" "" "0" "" "" "French-Canadian" "MOGL411-MOGL467- IV:1" "00415231" "" "" "" "1" "" "00000" "{PMID:Kohl 2015:26029869}" "Family MOGL5414, patient II:1" "M" "" "" "" "0" "" "" "French-Canadian" "MOGL5414-II:1" "00415232" "" "" "" "1" "" "00000" "{PMID:Kohl 2015:26029869}" "Family CHRO649, patient II:1" "F" "" "" "" "0" "" "" "Iranian" "CHRO649-II:1" "00415233" "" "" "" "1" "" "00000" "{PMID:Kohl 2015:26029869}" "Family ZD179, patient II:1" "F" "" "" "" "0" "" "" "Turkish" "ZD179-II:1" "00415234" "" "" "" "1" "" "00000" "{PMID:Kohl 2015:26029869}" "Family CHRO436, patient II:1" "M" "" "" "" "0" "" "" "German" "CHRO436-II:1" "00415235" "" "" "" "1" "" "00000" "{PMID:Kohl 2015:26029869}" "Family CHRO436, patient II:2" "F" "" "" "" "0" "" "" "German" "CHRO436-II:2" "00415236" "" "" "" "1" "" "00000" "{PMID:Ansar 2015:26063662}" "Pakistani family, multiple consanguineous marriages, proband" "F" "yes" "Pakistan" "" "0" "" "" "Pakistani" "III-1" "00415237" "" "" "" "1" "" "00000" "{PMID:Ansar 2015:26063662}" "Pakistani family, multiple consanguineous marriages, proband\'s second cousin 1" "F" "yes" "Pakistan" "" "0" "" "" "Pakistani" "III-4" "00415238" "" "" "" "1" "" "00000" "{PMID:Ansar 2015:26063662}" "Pakistani family, multiple consanguineous marriages, proband\'s second cousin 2" "M" "yes" "Pakistan" "" "0" "" "" "Pakistani" "III-5" "00415239" "" "" "" "1" "" "00000" "{PMID:Ansar 2015:26063662}" "Pakistani family, multiple consanguineous marriages, proband\'s second cousin 3\'s son" "M" "yes" "Pakistan" "" "0" "" "" "Pakistani" "IV-1" "00415240" "" "" "" "1" "" "00000" "{PMID:Xu 2015:26070061}" "" "F" "" "" "" "0" "" "" "white" "?" "00415279" "" "" "" "1" "" "00000" "{PMID:Alfares 2018:30202406}" "" "M" "" "" "" "0" "" "" "" "34" "00415296" "" "" "" "1" "" "00000" "{PMID:Skorczyk-Werner 2017:28812650}" "Polish family, brother of 2" "M" "" "Poland" "" "0" "" "" "Polish" "1" "00415297" "" "" "" "1" "" "00000" "{PMID:Skorczyk-Werner 2017:28812650}" "Polish family, sister of 1" "F" "" "Poland" "" "0" "" "" "Polish" "2" "00415307" "" "" "" "1" "" "00000" "{PMID:Mastey 2019:31237654}" "" "F" "" "" "" "0" "" "" "" "AV_10962" "00415308" "" "" "" "1" "" "00000" "{PMID:Mastey 2019:31237654}" "" "M" "" "" "" "0" "" "" "" "TM_11446" "00419732" "" "" "" "1" "" "00000" "{PMID:Ritter 2020:31900015}" "parents first cousins; in the same publication Patint 2 has already been reported in Kohl 2015" "F" "yes" "" "" "0" "" "" "South Asian" "Patient 1" "00419733" "" "" "" "1" "" "00000" "{PMID:Lee 2020:32271167}" "family A, sibling 1" "M" "" "" "" "0" "" "" "" "" "00419734" "" "" "" "1" "" "00000" "{PMID:Lee 2020:32271167}" "family A, sibling 2" "" "" "" "" "0" "" "" "" "" "00419735" "" "" "" "1" "" "00000" "{PMID:Lee 2020:32271167}" "family B" "M" "" "" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 48 "{{individualid}}" "{{diseaseid}}" "00092350" "00058" "00100409" "00058" "00289569" "00198" "00289570" "00198" "00308599" "04214" "00328056" "04214" "00328278" "04214" "00331297" "04214" "00362924" "04214" "00380137" "04214" "00389684" "04214" "00389685" "04214" "00390167" "04214" "00390168" "04214" "00391879" "04214" "00391880" "04214" "00415218" "04214" "00415219" "04214" "00415220" "04214" "00415221" "04214" "00415222" "04214" "00415223" "04214" "00415224" "04214" "00415225" "04214" "00415226" "04214" "00415227" "04214" "00415228" "04214" "00415229" "04214" "00415230" "04214" "00415231" "04214" "00415232" "04214" "00415233" "04214" "00415234" "04214" "00415235" "04214" "00415236" "04214" "00415237" "04214" "00415238" "04214" "00415239" "04214" "00415240" "04214" "00415279" "04214" "00415296" "04214" "00415297" "04214" "00415307" "04214" "00415308" "04214" "00419732" "04214" "00419733" "04214" "00419734" "04214" "00419735" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00058, 00198, 04214, 04230, 04366 ## Count = 46 "{{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}}" "0000072398" "00058" "00092350" "01859" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078609" "00058" "00100409" "01859" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000234027" "04214" "00308599" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000246283" "04214" "00328056" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" "0000246505" "04214" "00328278" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000249490" "04214" "00331297" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000258290" "04214" "00362924" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "achromatopsia" "" "0000273992" "04214" "00380137" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "dystrophy, cone-rod (CORD)" "" "0000283225" "04214" "00389684" "00000" "Familial, autosomal recessive" "20y" "age at genetic diagnosis mentioned" "" "15y" "" "" "" "" "" "" "achromatopsia" "" "" "0000283226" "04214" "00389685" "00000" "Familial, autosomal recessive" "26y" "age at genetic diagnosis mentioned" "" "21y" "" "" "" "" "" "" "achromatopsia" "" "" "0000283705" "04214" "00390167" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283706" "04214" "00390168" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000285169" "04214" "00391879" "00000" "Unknown" "" "Best corrected visual acuity right/left eye: 0.1/0.1, fundus: normal, electroretinogram responses: rod: mildly reduced, cone: extinguished" "<1y" "2y6m" "nystagmus" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000285170" "04214" "00391880" "00000" "Unknown" "" "fundus: poor foveal reflex, electroretinogram responses: rod: normal, cone: extinguished" "<8y" "7y" "poor vision" "" "" "" "" "" "" "achromatopsia" "" "0000307016" "04214" "00415218" "00000" "Familial, autosomal recessive" "42y" "best corrected visual acuity right, left eye: 20/100 (+0.5 +2.0 90deg), 20/2000 (+1.0 +2.0 90deg); fundus: macular changes; optical coherence tomography: not available; color vision: achromatopsia; visual field: not available; scotopic / photopic electroretinogram: not available; glare: yes; nystagmus: nystagmus at age 5 months; progression: no" "" "" "" "" "" "" "" "" "achromatopsia" "" "" "0000307017" "04214" "00415219" "00000" "Familial, autosomal recessive" "19y" "best corrected visual acuity right, left eye: 20/63 (+2.0 -1.5 162deg), 20/100 (+2.25 -0.75 5deg); fundus: small retinal pigment epithelium-defect in the fovea, pathological reflexes; optical coherence tomography: foveal hypoplasia, missing foveal pit, inner/outer segment and retinal pigment epithelium disruption; color vision: achromatopsia; visual field: relative central scotoma; scotopic / photopic electroretinogram: normal /non-detectable; glare: yes; nystagmus: nystagmus at birth, currently no nystagmus; progression: no" "" "" "" "" "" "" "" "" "achromatopsia" "" "" "0000307018" "04214" "00415220" "00000" "Familial, autosomal recessive" "16y" "best corrected visual acuity right, left eye: 20/100 (0.0 -1.0 180deg), 20/63 (-1.0); fundus: small retinal pigment epithelium-defect in the fovea, pathological reflexes; optical coherence tomography: foveal hypoplasia, missing foveal pit, inner/outer segment and retinal pigment epithelium disruption; color vision: achromatopsia; visual field: relative central scotoma; scotopic / photopic electroretinogram: normal /non-detectable; glare: yes; nystagmus: nystagmus at birth, currently no nystagmus; progression: no" "" "" "" "" "" "" "" "" "achromatopsia" "" "" "0000307019" "04214" "00415221" "00000" "Familial, autosomal recessive" "9y" "best corrected visual acuity right, left eye: 20/200 (+3.0), 20/200 (+3.0); fundus: small retinal pigment epithelium-defect in the fovea, pathological reflexes; optical coherence tomography: foveal hypoplasia, missing foveal pit, inner/outer segment and retinal pigment epithelium disruption; color vision: not available; visual field: not available; scotopic / photopic electroretinogram: not available; glare: yes; nystagmus: nystagmus at birth, currently no nystagmus; progression: no" "" "" "" "" "" "" "" "" "achromatopsia" "" "" "0000307020" "04214" "00415222" "00000" "Familial, autosomal recessive" "47y" "best corrected visual acuity right, left eye: 20/448 (-4.0 -4.25 10deg), 20/252 (-4.5 -4.00 2deg); fundus: mild peripapillary atrophy, small amount of foveal atrophy; optical coherence tomography: foveal hypoplasia,, inner/outer segment absence; color vision: achromatopsia; visual field: relative central scotoma; scotopic / photopic electroretinogram: normal /non-detectable; glare: yes; nystagmus: pendular nystagmus at birth, now mild nystagmus; progression: no" "" "" "" "" "" "" "" "" "achromatopsia" "" "" "0000307021" "04214" "00415223" "00000" "Familial, autosomal recessive" "45y" "best corrected visual acuity right, left eye: 20/209 (+6.5 -2.0 5deg), 20/115 (+6.0 -1.5 15deg); fundus: mild peripapillary atrophy, small amount of foveal atrophy; optical coherence tomography: foveal hypoplasia, inner/outer segment absence; color vision: achromatopsia; visual field: relative central scotoma; scotopic / photopic electroretinogram: normal /non-detectable; glare: yes; nystagmus: pendular nystagmus at birth, now mild nystagmus; progression: no" "" "" "" "" "" "" "" "" "achromatopsia" "" "" "0000307022" "04214" "00415224" "00000" "Familial, autosomal recessive" "43y" "best corrected visual acuity right, left eye: 20/110 (-6.5), 20/152 (-9.0); fundus: marked peripapillary atrophy, marked foveal atrophy; optical coherence tomography: foveal hypoplasia, marked loss of outer retina and retinal pigment epithelium; color vision: achromatopsia; visual field: relative central scotoma; scotopic / photopic electroretinogram: not available; glare: yes; nystagmus: pendular nystagmus at birth, now mild nystagmus; progression: no" "" "" "" "" "" "" "" "" "achromatopsia" "" "" "0000307023" "04214" "00415225" "00000" "Familial, autosomal recessive" "27y" "best corrected visual acuity right, left eye: 20/132 (0.0 -2.5 15deg), 20/145 (-1.5 -2.25 10deg); fundus: mild pigmentary changes at macula; optical coherence tomography: foveal hypoplasia, inner/outer segment absence ; color vision: achromatopsia; visual field: relative central scotoma; scotopic / photopic electroretinogram: normal /non-detectable; glare: yes; nystagmus: pendular nystagmus at birth, now mild nystagmus; progression: no" "" "" "" "" "" "" "" "" "achromatopsia" "" "" "0000307024" "04214" "00415226" "00000" "Familial, autosomal recessive" "23y" "best corrected visual acuity right, left eye: 20/110 (+ 2.5 -2.0 180deg), 20/166 (+2.0 -1.0 50deg); fundus: mild pigmentary changes at macula; optical coherence tomography: foveal hypoplasia, inner/outer segment absence; color vision: achromatopsia; visual field: relative central scotoma; scotopic / photopic electroretinogram: normal /non-detectable; glare: yes; nystagmus: pendular nystagmus at birth, now mild nystagmus; progression: no" "" "" "" "" "" "" "" "" "achromatopsia" "" "" "0000307025" "04214" "00415227" "00000" "Familial, autosomal recessive" "17y" "best corrected visual acuity right, left eye: 20/160 (+4.25 +0.75 92deg), 20/160 (+2.0 +1.25 92deg); fundus: bull\'s eye maculopathy; optical coherence tomography: not available; color vision: incomplete achromatopsia; visual field: not available; scotopic / photopic electroretinogram: normal /reduced; glare: yes; nystagmus: currently convergence controlled nystagmus; progression: not available" "" "" "" "" "" "" "" "" "achromatopsia" "" "" "0000307026" "04214" "00415228" "00000" "Familial, autosomal recessive" "94y" "" "" "" "" "" "" "" "" "" "achromatopsia" "" "" "0000307027" "04214" "00415229" "00000" "Familial, autosomal recessive" "59y" "best corrected visual acuity right, left eye: 20/100 (+6.0 + 1.0 90deg), 20/100 (+6.0 +1.0 90deg); fundus: foveal atrophy; optical coherence tomography: foveal hypoplasia with no umbo formation, cone loss in the central fovea; color vision: achromatopsia; visual field: Normal; scotopic / photopic electroretinogram: normal /reduced; glare: yes; nystagmus: yes; progression: not available" "" "" "" "" "" "" "" "" "achromatopsia" "" "" "0000307028" "04214" "00415230" "00000" "Familial, autosomal recessive" "25y" "best corrected visual acuity right, left eye: 20/100 (-6.5 + 3.5 90deg), 20/100 (-9.5 + 5.0 90deg); fundus: foveal atrophy; optical coherence tomography: foveal hypoplasia with no umbo formation, cone loss in the central fovea; color vision: achromatopsia; visual field: Normal; scotopic / photopic electroretinogram: reduced /reduced; glare: yes; nystagmus: no; progression: not available" "" "" "" "" "" "" "" "" "achromatopsia" "" "" "0000307029" "04214" "00415231" "00000" "Familial, autosomal recessive" "32y" "best corrected visual acuity right, left eye: 20/70 (-5.5 +1.75 90deg),20/80 (-5.75 + 1.25 90deg); fundus: foveal atrophy; optical coherence tomography: foveal hypoplasia with no umbo formation, cone loss in the central fovea; color vision: achromatopsia; visual field: Normal; scotopic / photopic electroretinogram: normal /non-detectable; glare: yes; nystagmus: no; progression: not available" "" "" "" "" "" "" "" "" "achromatopsia" "" "" "0000307030" "04214" "00415232" "00000" "Familial, autosomal recessive" "26y" "best corrected visual acuity right, left eye: 20/200 (-1.5+3.5 85deg), 20/100 (-1.5+2.75 105deg); fundus: dull foveal reflex with retinal pigment epithelium changes at the fovea ou, fine retinal pigment epithelium mottling left eye; optical coherence tomography: partial foveal hypoplasia; presence of optical gap (hyporeflectivity) at the fovea in both eyes; color vision: incomplete achromatopsia; visual field: relative central scotoma; scotopic / photopic electroretinogram: normal /non-detectable; glare: yes; nystagmus: nystagmus since infancy; now milder; progression: yes" "" "" "" "" "" "" "" "" "achromatopsia" "" "" "0000307031" "04214" "00415233" "00000" "Familial, autosomal recessive" "41y" "best corrected visual acuity right, left eye: 20/200 (0.0 -4.0 180deg), 20/200 (0.0 -4.5 170deg); fundus: dull foveal reflex with retinal pigment epithelium changes at the fovea; optical coherence tomography: no foveal impression, no subfoveal inner outer segment border; color vision: achromatopsia; visual field: not available; scotopic / photopic electroretinogram: normal /non-detectable; glare: yes; nystagmus: yes; progression: not available" "" "" "" "" "" "" "" "" "achromatopsia" "" "" "0000307032" "04214" "00415234" "00000" "Familial, autosomal recessive" "22y" "best corrected visual acuity right, left eye: 20/100 (+7.25 -2.25 5deg), 20/200 (+7.25 -2.25 5deg); fundus: small retinal pigment epithelium-defect in the fovea; optical coherence tomography: foveal hypoplasia, missing foveal pit, inner/outer segment and retinal pigment epithelium disruption; color vision: achromatopsia; visual field: relative central scotoma; scotopic / photopic electroretinogram: normal /non-detectable; glare: yes; nystagmus: nystagmus at birth, currently no nystagmus; progression: no" "" "" "" "" "" "" "" "" "achromatopsia" "" "" "0000307033" "04214" "00415235" "00000" "Familial, autosomal recessive" "17y" "best corrected visual acuity right, left eye: 20/200 (+7.25 -1.25 100deg), 20/200 (+8.25 -1.25 20deg); fundus: small retinal pigment epithelium- defects in the fovea; optical coherence tomography: foveal hypoplasia, missing foveal pit, inner/outer segment and retinal pigment epithelium disruption; color vision: achromatopsia; visual field: slightly narrowed outer boundaries due to glare; scotopic / photopic electroretinogram: normal /non-detectable; glare: yes; nystagmus: No; progression: no" "" "" "" "" "" "" "" "" "achromatopsia" "" "" "0000307034" "04214" "00415236" "00000" "Familial, autosomal recessive" "" "whole family description: normal night vision, in daylight the patients experience extreme discomfort and exhibit extensive blinking; no additional comorbidities; visual acuity: range from 0.08 to 0.2; Ishihara 24-plate color test: severe defects; proband at 16y: fundus: normal except for loss of the foveal reflex; full field electroretinography: typical of achromatopsia, i.e., (1) normal amplitude and latency of scotopic or rod response in dark-adapted phase at = <30 Hz, subnormal rod response at 120 Hz, (2) absent photopic flicker response with loss of regular sinusoidal waveforms, (3) normal latency but severely diminished amplitude of photopic or single cone flash response; oscillatory potentials during scotopic responses at 30 Hz presumably indicating amacrine cell function during the rod respon" "" "" "severe photophobia, nystagmus and absence of color discrimination from early childhood" "" "" "" "" "" "achromatopsia" "" "" "0000307035" "04214" "00415237" "00000" "Familial, autosomal recessive" "" "whole family description: normal night vision, in daylight the patients experience extreme discomfort and exhibit extensive blinking; no additional comorbidities; visual acuity: range from 0.08 to 0.2; Ishihara 24-plate color test: severe defects" "" "" "severe photophobia, nystagmus and absence of color discrimination from early childhood" "" "" "" "" "" "achromatopsia" "" "" "0000307036" "04214" "00415238" "00000" "Familial, autosomal recessive" "" "whole family description: normal night vision, in daylight the patients experience extreme discomfort and exhibit extensive blinking; no additional comorbidities; visual acuity: range from 0.08 to 0.2; Ishihara 24-plate color test: severe defects" "" "" "severe photophobia, nystagmus and absence of color discrimination from early childhood" "" "" "" "" "" "achromatopsia" "" "" "0000307037" "04214" "00415239" "00000" "Familial, autosomal recessive" "" "whole family description: normal night vision, in daylight the patients experience extreme discomfort and exhibit extensive blinking; no additional comorbidities; visual acuity: range from 0.08 to 0.2; Ishihara 24-plate color test: severe defects" "" "" "severe photophobia, nystagmus and absence of color discrimination from early childhood" "" "" "" "" "" "achromatopsia" "" "" "0000307038" "04214" "00415240" "00000" "Familial, autosomal recessive" "2y" "distance visual acuity right, left eye: 20/200, 20/400; no ocular misalignment, bilateral, symmetrical pendular nystagmus; refractive error right, left eye: +7.00, +7; anterior segment and pupillary examination: normal; intraocular pressure right / left eye: normal (9 mm Hg / 12 mm Hg); funduscopy: pigmentary changes in the macular region of both eyes, peripheral retinae appeared relatively normal and without obvious pigmentation, and mildly narrowed retinal arterioles; electroretinogram: very poor single flash electroretinogram responses featuring no significant a- or b-waves, 30-Hz flickers present but at very low amplitude; visual evoked potentials: within normal ranges; spectral domain optical coherence tomography: poor foveal contours with some apparent retention of the inner layers of the retina, patchy loss of the ellipsoid zone in both foveae; fluorescein angiography: window defects in both foveae and possibly an area of avascular retina in the temporal periphery in the right eye; no syndromic abnormalities" "" "" "congenital nystagmus, poor visual behavior" "" "" "" "" "" "early onset photoreceptor degeneration with macular involvement" "" "" "0000307077" "04214" "00415279" "00000" "Familial, autosomal recessive" "" "OMIM: 616517; developmental delay, speech delay, decreased vision, and light sensitivity" "" "" "" "" "" "" "" "" "Type 2 Achromatopsia" "" "" "0000307093" "04214" "00415296" "00000" "Familial, autosomal recessive" "9y" "born from full-term normal pregnancy, by natural delivery and with no complications; shortly after birth showed the setting-sun eye phenomenon; neurological investigations: normal results; 6m: marked photophobia; ophthalmological examination: reduced visual acuity; best corrected visual acuity ranged from 0.1 to 0.2; able to recognize the majority of colours in everyday life (even such as pink, orange, purple or brown), but sometimes confuses colours; colour vision tested using Ishihara colour plates in standard conditions: recognized plates number 1, 6-9 and 14-17 easily, and partially plates number 23 (such as patients with deuteranopia) and 24 (such as patients with protanopia), the rest of the plates not recognized; full-field flash electroretinogram 5y: cone responses totally extinguished, rod responses decreased; repeated 9y, and also the rod responses extinguished, showing a progressive nature of the electroretinographic changes observed in the patient; optical coherence tomography: no visible fo contours, foveal hypoplasia and missing foveal pit, subfoveal atrophy of the photoreceptor layer" "" "" "" "Impaired activation of in response to ER stress in patient fibroblasts" "" "" "" "" "cone-rod dystrophy" "" "" "0000307094" "04214" "00415297" "00000" "Familial, autosomal recessive" "6y" "born from full-term normal pregnancy, by natural delivery and with no complications; shortly after birth showed the setting-sun eye phenomenon; neurological investigations: normal results; 3m - congenital nystagmus, 6m: marked photophobia; ophthalmological examination: reduced visual acuity; best corrected visual acuity ranged from 0.1 to 0.2; able to recognize the majority of colours in everyday life (even such as pink, orange, purple or brown); colour vision tested using Ishihara colour plates in standard conditions: able to recognize plates number 1, 14-17 (with some difficulties) and partially plates number 2 (such as individuals with red-green deficiency) and 23 (such as patients with deuteranopia), the rest of the plates not recognized; full-field flash electroretinogram 6y: totally extinguished photopic responses and reduced scotopic; optical coherence tomography: no visible foveal contours, foveal hypoplasia and missing foveal pit, subfoveal atrophy of the photoreceptor l" "" "" "" "Impaired activation of in response to ER stress in patient fibroblasts" "" "" "" "" "cone-rod dystrophy" "" "" "0000307104" "04214" "00415307" "00000" "Familial, autosomal recessive" "25y" "axial length, mm right/left eye: 22.6/22.55; disrupted foveal anatomy; confocal adaptive optics scanning light ophthalmoscopy: the majority of features at the fovea seemed to be retinal pigment epithelial (RPE) cells, observed as hyporeflective, hexagonal structures that did not align to any distinct features in the split-detection modality, but rather directly aligned with the dark-field RPE mosaic; occasional isolated cone-like structures were observed in the split-detection images; parafoveal photoreceptor mosaic has density consistent with the normal rod, not cone, mosaic" "" "" "" "" "" "" "" "" "achromatopsia" "" "" "0000307105" "04214" "00415308" "00000" "Familial, autosomal recessive" "10y" "axial length, mm right/left eye: 24.42/24.51; disrupted foveal anatomy; confocal adaptive optics scanning light ophthalmoscopy: the majority of features at the fovea seemed to be retinal pigment epithelial (RPE) cells, observed as hyporeflective, hexagonal structures that did not align to any distinct features in the split-detection modality, but rather directly aligned with the dark-field RPE mosaic; occasional isolated cone-like structures were observed in the split-detection images; parafoveal photoreceptor mosaic has density consistent with the normal rod, not cone, mosaic" "" "" "" "" "" "" "" "" "achromatopsia" "" "" "0000311012" "04214" "00419732" "00000" "Familial, autosomal recessive" "27y" "2m: nystagmus and poor vision noted at the age of 2 months; never able to name colours; no other general medical condition; no family history of eye disease; ocular examination: best-corrected visual acuity: 6/60 bilaterally; mildly myopic; anterior segment: unremarkable with a clear visual axis; fundoscopy: symmetrical, well-demarcated excavated lesions at the central macula of both eyes, peripheral retina unremarkable; fundus autofluorescence: macular lesions hypoautofluorescent with a mildly hyperautofluorescent border; optical coherence tomography: deep, excavated lesions with loss of inner and outer retinal layers in both eyes; the left eye possibly had an associated scleral protrusion; electrophysiological examination: rod-specific (DA 0.01) and bright flash dark-adapted (DA 10.0) electroretinograms: no clinically significant abnormality; mildly subnormal dark-adapted 10.0 a-wave amplitude, not uncommon in patients lacking a cone photoreceptor contribution to the dark-adapted a-wave; 30-Hz flicker electroretinograms: undetectable; detectable low-amplitude single-flash photopic electroretinograms (LA 3.0) with the b-wave timing (approximately 50 ms) and shape suggestive of an S-cone origin; pattern electroretinograms: severe reduction in both eyes, indicating severe macular dysfunction" "" "" "" "" "" "" "" "" "achromatopsia" "" "" "0000311013" "04214" "00419733" "00000" "Familial, autosomal recessive" "7y" "infancy: nystagmus, impaired visual acuity, and photophobia; fundus examination: crowded optic discs in both eyes; mild macular atrophy; fundus autofluorescence: mild foveal hyperautofluorescence; spectral domain-optical coherence tomography: severe foveal hypoplasia in the right and left eyes and focal disruption in the inner segment ellipsoid layer at the site of the presumed foveal pit; photopic full-field (light-adapted 3.0) electroretinogram: defective (barely detectable) amplitudes for the a-wave and b-wave responses" "" "" "" "" "" "" "" "" "achromatopsia" "" "" "0000311014" "04214" "00419734" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" "" "0000311015" "04214" "00419735" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 48 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000092520" "00092350" "1" "01859" "01859" "2016-12-30 11:52:08" "" "" "SEQ-NG-I" "DNA" "" "" "0000100814" "00100409" "1" "01859" "01859" "2017-02-18 20:29:16" "" "" "SEQ-NG" "DNA" "" "" "0000290737" "00289569" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290738" "00289570" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309744" "00308599" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" "" "0000329271" "00328056" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329493" "00328278" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000332516" "00331297" "1" "00000" "00006" "2021-02-11 11:33:52" "" "" "SEQ" "DNA" "" "" "0000364152" "00362924" "1" "00000" "00006" "2021-04-23 19:25:57" "" "" "SEQ-NG" "DNA" "" "WES" "0000381339" "00380137" "1" "00000" "03840" "2021-08-10 09:47:12" "" "" "SEQ-NG" "DNA" "" "322 eye disease gene panel (negative), WES" "0000390927" "00389684" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390928" "00389685" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET5 targeted sequencing panel - see paper" "0000391408" "00390167" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391409" "00390168" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000393121" "00391879" "1" "00000" "03840" "2021-11-19 15:06:39" "" "" "SEQ-NG" "DNA" "blood" "Whole-exome or targeted sequencing" "0000393122" "00391880" "1" "00000" "03840" "2021-11-19 15:06:39" "" "" "SEQ-NG" "DNA" "blood" "Whole-exome or targeted sequencing" "0000416500" "00415218" "1" "00000" "03840" "2022-08-10 13:22:10" "" "" "SEQ" "DNA" "blood" "" "0000416501" "00415219" "1" "00000" "03840" "2022-08-10 13:22:10" "" "" "arraySNP;SEQ" "DNA" "blood" "haplotype analysis - easyLINKAGE" "0000416502" "00415220" "1" "00000" "03840" "2022-08-10 13:22:10" "" "" "arraySNP;SEQ" "DNA" "blood" "haplotype analysis - easyLINKAGE" "0000416503" "00415221" "1" "00000" "03840" "2022-08-10 13:22:10" "" "" "arraySNP;SEQ" "DNA" "blood" "haplotype analysis - easyLINKAGE" "0000416504" "00415222" "1" "00000" "03840" "2022-08-10 13:22:10" "" "" "SEQ" "DNA" "blood" "" "0000416505" "00415223" "1" "00000" "03840" "2022-08-10 13:22:10" "" "" "SEQ" "DNA" "blood" "" "0000416506" "00415224" "1" "00000" "03840" "2022-08-10 13:22:10" "" "" "SEQ" "DNA" "blood" "" "0000416507" "00415225" "1" "00000" "03840" "2022-08-10 13:22:10" "" "" "SEQ" "DNA" "blood" "" "0000416508" "00415226" "1" "00000" "03840" "2022-08-10 13:22:10" "" "" "SEQ" "DNA" "blood" "" "0000416509" "00415227" "1" "00000" "03840" "2022-08-10 13:22:10" "" "" "SEQ" "DNA" "blood" "" "0000416510" "00415228" "1" "00000" "03840" "2022-08-10 13:22:10" "" "" "SEQ" "DNA" "blood" "" "0000416511" "00415229" "1" "00000" "03840" "2022-08-10 13:22:10" "" "" "SEQ" "DNA" "blood" "" "0000416512" "00415230" "1" "00000" "03840" "2022-08-10 13:22:10" "" "" "SEQ" "DNA" "blood" "" "0000416513" "00415231" "1" "00000" "03840" "2022-08-10 13:22:10" "" "" "SEQ" "DNA" "blood" "" "0000416514" "00415232" "1" "00000" "03840" "2022-08-10 13:22:10" "" "" "SEQ" "DNA" "blood" "" "0000416515" "00415233" "1" "00000" "03840" "2022-08-10 13:22:10" "" "" "SEQ" "DNA" "blood" "" "0000416516" "00415234" "1" "00000" "03840" "2022-08-10 13:22:10" "" "" "SEQ" "DNA" "blood" "" "0000416517" "00415235" "1" "00000" "03840" "2022-08-10 13:22:10" "" "" "SEQ" "DNA" "blood" "" "0000416518" "00415236" "1" "00000" "03840" "2022-08-10 13:56:32" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "exome sequencing" "0000416519" "00415237" "1" "00000" "03840" "2022-08-10 13:56:32" "" "" "SEQ" "DNA" "blood" "" "0000416520" "00415238" "1" "00000" "03840" "2022-08-10 13:56:32" "" "" "SEQ" "DNA" "blood" "" "0000416521" "00415239" "1" "00000" "03840" "2022-08-10 13:56:32" "" "" "SEQ" "DNA" "blood" "" "0000416522" "00415240" "1" "00000" "03840" "2022-08-10 14:27:30" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "exome sequencing" "0000416561" "00415279" "1" "00000" "03840" "2022-08-10 20:39:58" "" "" "SEQ-NG" "DNA" "" "exome sequencing done at a commercial CAPaccredited laboratory" "0000416577" "00415296" "1" "00000" "03840" "2022-08-11 09:45:52" "" "" "arraySNP;SEQ-NG-I;SEQ" "DNA" "" "retinal genes panel; exome sequencing" "0000416578" "00415297" "1" "00000" "03840" "2022-08-11 09:45:52" "" "" "SEQ" "DNA" "" "" "0000416588" "00415307" "1" "00000" "03840" "2022-08-11 11:14:39" "" "" "?" "DNA" "" "previously genetically screened" "0000416589" "00415308" "1" "00000" "03840" "2022-08-11 11:14:39" "" "" "?" "DNA" "" "previously genetically screened" "0000421037" "00419732" "1" "00000" "03840" "2022-10-21 19:41:59" "" "" "SEQ" "DNA" "" "" "0000421038" "00419733" "1" "00000" "03840" "2022-10-22 10:25:17" "" "" "SEQ" "DNA" "" "" "0000421039" "00419734" "1" "00000" "03840" "2022-10-22 10:25:17" "" "" "SEQ" "DNA" "" "" "0000421040" "00419735" "1" "00000" "03840" "2022-10-22 10:25:17" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 43 "{{screeningid}}" "{{geneid}}" "0000309744" "ATF6" "0000329271" "ATF6" "0000329493" "ATF6" "0000332516" "ATF6" "0000364152" "ATF6" "0000390927" "ATF6" "0000390928" "ATF6" "0000391408" "ATF6" "0000391409" "ATF6" "0000393121" "ATF6" "0000393122" "ATF6" "0000416500" "ATF6" "0000416501" "ATF6" "0000416502" "ATF6" "0000416503" "ATF6" "0000416504" "ATF6" "0000416505" "ATF6" "0000416506" "ATF6" "0000416507" "ATF6" "0000416508" "ATF6" "0000416509" "ATF6" "0000416510" "ATF6" "0000416511" "ATF6" "0000416512" "ATF6" "0000416513" "ATF6" "0000416514" "ATF6" "0000416515" "ATF6" "0000416516" "ATF6" "0000416517" "ATF6" "0000416518" "ATF6" "0000416519" "ATF6" "0000416520" "ATF6" "0000416521" "ATF6" "0000416522" "ATF6" "0000416561" "ATF6" "0000416577" "ATF6" "0000416578" "ATF6" "0000416588" "ATF6" "0000416589" "ATF6" "0000421037" "ATF6" "0000421038" "ATF6" "0000421039" "ATF6" "0000421040" "ATF6" ## 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}}" "0000150956" "3" "90" "1" "161833074" "161833074" "subst" "0" "01859" "ATF6_000001" "g.161833074A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.161863284A>G" "" "pathogenic" "" "0000163195" "3" "90" "1" "161833074" "161833074" "subst" "0" "01859" "ATF6_000001" "g.161833074A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.161863284A>G" "" "pathogenic" "" "0000245501" "0" "10" "1" "161748124" "161748124" "subst" "0.000957557" "02330" "ATF6_000002" "g.161748124A>G" "" "" "" "ATF6(NM_007348.4):c.159+14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161778334A>G" "" "benign" "" "0000258405" "0" "10" "1" "161789521" "161789521" "subst" "2.4506E-5" "02330" "ATF6_000006" "g.161789521G>A" "" "" "" "ATF6(NM_007348.4):c.1008G>A (p.A336=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161819731G>A" "" "benign" "" "0000258406" "0" "10" "1" "161761203" "161761203" "subst" "0.00131334" "02330" "ATF6_000003" "g.161761203G>A" "" "" "" "ATF6(NM_007348.3):c.360G>A (p.E120=), ATF6(NM_007348.4):c.360G>A (p.E120=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161791413G>A" "" "benign" "" "0000258407" "0" "50" "1" "161771914" "161771914" "subst" "1.62526E-5" "02330" "ATF6_000004" "g.161771914C>T" "" "" "" "ATF6(NM_007348.4):c.761C>T (p.P254L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161802124C>T" "" "VUS" "" "0000258408" "0" "30" "1" "161771986" "161771986" "subst" "0.00400124" "02330" "ATF6_000005" "g.161771986C>T" "" "" "" "ATF6(NM_007348.4):c.833C>T (p.A278V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161802196C>T" "" "likely benign" "" "0000263165" "0" "30" "1" "161928300" "161928300" "subst" "4.06884E-6" "01943" "ATF6_000007" "g.161928300C>G" "" "" "" "ATF6(NM_007348.3):c.1869C>G (p.T623=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161958510C>G" "" "likely benign" "" "0000504049" "0" "30" "1" "161771868" "161771868" "subst" "0.00103214" "01943" "ATF6_000008" "g.161771868A>G" "" "" "" "ATF6(NM_007348.3):c.715A>G (p.T239A), ATF6(NM_007348.4):c.715A>G (p.T239A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.161802078A>G" "" "likely benign" "" "0000504050" "0" "50" "1" "161772054" "161772054" "subst" "0.000130888" "01943" "ATF6_000009" "g.161772054G>A" "" "" "" "ATF6(NM_007348.3):c.901G>A (p.G301S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.161802264G>A" "" "VUS" "" "0000504051" "0" "30" "1" "161772072" "161772072" "subst" "0" "01943" "ATF6_000010" "g.161772072G>T" "" "" "" "ATF6(NM_007348.3):c.909+10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.161802282G>T" "" "likely benign" "" "0000504052" "0" "30" "1" "161816280" "161816280" "subst" "0.00016376" "01943" "ATF6_000011" "g.161816280G>A" "" "" "" "ATF6(NM_007348.3):c.1229G>A (p.S410N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.161846490G>A" "" "likely benign" "" "0000604957" "0" "50" "1" "161761235" "161761235" "subst" "0" "01943" "ATF6_000014" "g.161761235C>T" "" "" "" "ATF6(NM_007348.3):c.392C>T (p.P131L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.161791445C>T" "" "VUS" "" "0000620424" "0" "30" "1" "161736167" "161736167" "subst" "0.000187826" "01943" "ATF6_000012" "g.161736167G>T" "" "" "" "ATF6(NM_007348.3):c.17G>T (p.G6V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.161766377G>T" "" "likely benign" "" "0000620425" "0" "50" "1" "161736182" "161736182" "subst" "0" "01943" "ATF6_000013" "g.161736182T>G" "" "" "" "ATF6(NM_007348.3):c.32T>G (p.M11R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.161766392T>G" "" "VUS" "" "0000620426" "0" "50" "1" "161790920" "161790920" "subst" "0" "01943" "ATF6_000015" "g.161790920G>T" "" "" "" "ATF6(NM_007348.3):c.1156G>T (p.A386S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.161821130G>T" "" "VUS" "" "0000647426" "1" "90" "1" "161823114" "161823114" "subst" "4.10927E-6" "03575" "ATF6_000016" "g.161823114G>C" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs797045172}" "Germline" "" "rs797045172" "0" "" "" "g.161853324G>C" "" "pathogenic" "" "0000647427" "1" "90" "1" "161833082" "161833082" "subst" "0" "03575" "ATF6_000017" "g.161833082T>A" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs796065053}" "Germline" "" "rs796065053" "0" "" "" "g.161863292T>A" "" "pathogenic" "" "0000684617" "3" "70" "1" "161761962" "161761962" "subst" "0" "00004" "ATF6_000018" "g.161761962C>G" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.161792172C>G" "" "likely pathogenic (recessive)" "" "0000713394" "3" "90" "1" "161761260" "161761261" "ins" "0" "00000" "ATF6_000019" "g.161761260_161761261insT" "" "{PMID:Carss 2017:28041643}" "" "1:161761259C>CT ENST00000367942.3:c.417dupT (Asn140Ter)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713616" "3" "90" "1" "161789531" "161789531" "subst" "0" "00000" "ATF6_000020" "g.161789531G>C" "" "{PMID:Carss 2017:28041643}" "" "1:161789531G>C ENST00000367942.3:c.1018G>C (Ala340Pro)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000716954" "0" "50" "1" "161821525" "161821525" "subst" "1.62953E-5" "01943" "ATF6_000021" "g.161821525G>A" "" "" "" "ATF6(NM_007348.3):c.1333G>A (p.V445I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000716955" "0" "30" "1" "161833000" "161833000" "subst" "2.47372E-5" "01943" "ATF6_000022" "g.161833000G>C" "" "" "" "ATF6(NM_007348.3):c.1617G>C (p.G539=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729794" "3" "90" "1" "161833074" "161833074" "subst" "0" "00000" "ATF6_000001" "g.161833074A>G" "" "{PMID:Wawrocka 2018:29769798}" "" "1148delC" "" "Germline" "" "" "0" "" "" "g.161863284A>G" "" "pathogenic (recessive)" "" "0000764914" "1" "70" "1" "161771950" "161771950" "dup" "0" "00000" "ATF6_000023" "g.161771950dup" "" "{PMID:Weisschuh 2016:26766544}" "" "" "" "Germline" "" "" "0" "" "" "g.161802160dup" "" "likely pathogenic (recessive)" "" "0000764936" "2" "70" "1" "161790874" "161790874" "dup" "0" "00000" "ATF6_000024" "g.161790874dup" "" "{PMID:Weisschuh 2016:26766544}" "" "" "" "Germline" "" "" "0" "" "" "g.161821084dup" "" "likely pathogenic (recessive)" "" "0000794740" "3" "90" "1" "161789462" "161789462" "subst" "0" "00000" "ATF6_000025" "g.161789462C>T" "" "{PMID:Patel 2018:30054919}" "" "NM_007348.3:c.949C>T; p.(Arg317*)" "" "Germline" "yes" "" "0" "" "" "g.161819672C>T" "" "pathogenic (recessive)" "ACMG" "0000798885" "0" "30" "1" "161761203" "161761203" "subst" "0.00131334" "01943" "ATF6_000003" "g.161761203G>A" "" "" "" "ATF6(NM_007348.3):c.360G>A (p.E120=), ATF6(NM_007348.4):c.360G>A (p.E120=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798886" "0" "30" "1" "161762127" "161762127" "subst" "4.91376E-5" "02330" "ATF6_000026" "g.161762127C>G" "" "" "" "ATF6(NM_007348.4):c.688+10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798887" "0" "10" "1" "161771868" "161771868" "subst" "0.00103214" "02330" "ATF6_000008" "g.161771868A>G" "" "" "" "ATF6(NM_007348.3):c.715A>G (p.T239A), ATF6(NM_007348.4):c.715A>G (p.T239A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000820272" "1" "70" "1" "161771950" "161771950" "dup" "0" "00000" "ATF6_000023" "g.161771950dup" "" "{PMID:Weisschuh 2020:32531858}" "" "ATF6, variant 1: c.797dup/p.N267*, variant 2: c.1110dup/p.V371Sfs*3" "solved, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.161802160dup" "" "likely pathogenic" "" "0000820273" "1" "70" "1" "161771950" "161771950" "dup" "0" "00000" "ATF6_000023" "g.161771950dup" "" "{PMID:Weisschuh 2020:32531858}" "" "ATF6, variant 1: c.797dup/p.N267*, variant 2: c.1110dup/p.V371Sfs*3" "solved, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.161802160dup" "" "likely pathogenic" "" "0000820854" "1" "70" "1" "161790874" "161790874" "dup" "0" "00000" "ATF6_000024" "g.161790874dup" "" "{PMID:Weisschuh 2020:32531858}" "" "ATF6, variant 1: c.797dup/p.N267*, variant 2: c.1110dup/p.V371Sfs*3" "solved, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.161821084dup" "" "likely pathogenic" "" "0000820855" "1" "70" "1" "161790874" "161790874" "dup" "0" "00000" "ATF6_000024" "g.161790874dup" "" "{PMID:Weisschuh 2020:32531858}" "" "ATF6, variant 1: c.797dup/p.N267*, variant 2: c.1110dup/p.V371Sfs*3" "solved, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.161821084dup" "" "likely pathogenic" "" "0000821157" "3" "70" "1" "161761260" "161761260" "dup" "0" "00000" "ATF6_000027" "g.161761260dup" "" "{PMID:Turro 2020:32581362}" "" "ATF6 c.417dupT, p.Asn140Ter" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.161791470dup" "" "likely pathogenic" "" "0000821158" "3" "70" "1" "161789531" "161789531" "subst" "0" "00000" "ATF6_000020" "g.161789531G>C" "" "{PMID:Turro 2020:32581362}" "" "ATF6 c.1018G>C, p.Ala340Pro" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.161819741G>C" "" "likely pathogenic" "" "0000823741" "1" "70" "1" "161790891" "161790891" "subst" "4.88091E-5" "00000" "ATF6_000028" "g.161790891G>A" "" "{PMID:Sun 2020:32913385}" "" "ATF6 c.[1127G>A];[1456T>G]" "heterozygous; protein change not reported" "Unknown" "yes" "" "0" "" "" "g.161821101G>A" "" "likely pathogenic" "" "0000823742" "2" "70" "1" "161823036" "161823036" "subst" "0" "00000" "ATF6_000030" "g.161823036T>G" "" "{PMID:Sun 2020:32913385}" "" "ATF6 c.[1127G>A];[1456T>G]" "heterozygous; protein change not reported" "Unknown" "yes" "" "0" "" "" "g.161853246T>G" "" "likely pathogenic" "" "0000823743" "1" "70" "1" "161823013" "161823013" "subst" "0" "00000" "ATF6_000029" "g.161823013G>A" "" "{PMID:Sun 2020:32913385}" "" "ATF6 c.[1434-1G>A];[1434-1G>A]" "homozygous; protein change not reported" "Unknown" "yes" "" "0" "" "" "g.161853223G>A" "" "likely pathogenic" "" "0000857113" "0" "30" "1" "161748087" "161748087" "subst" "3.2542E-5" "01943" "ATF6_000031" "g.161748087T>C" "" "" "" "ATF6(NM_007348.3):c.136T>C (p.L46=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857114" "0" "50" "1" "161761946" "161761946" "subst" "0" "01943" "ATF6_000032" "g.161761946G>A" "" "" "" "ATF6(NM_007348.3):c.517G>A (p.V173M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857115" "0" "10" "1" "161771957" "161771957" "subst" "0.000540571" "02330" "ATF6_000033" "g.161771957C>T" "" "" "" "ATF6(NM_007348.4):c.804C>T (p.H268=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000857116" "0" "50" "1" "161790912" "161790912" "subst" "0" "01943" "ATF6_000034" "g.161790912T>C" "" "" "" "ATF6(NM_007348.3):c.1148T>C (p.I383T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857117" "0" "30" "1" "161821519" "161821519" "subst" "8.16013E-6" "01943" "ATF6_000035" "g.161821519C>G" "" "" "" "ATF6(NM_007348.3):c.1327C>G (p.H443D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857118" "0" "10" "1" "161821608" "161821608" "subst" "0.000788727" "02330" "ATF6_000036" "g.161821608C>T" "" "" "" "ATF6(NM_007348.4):c.1416C>T (p.N472=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000857119" "0" "30" "1" "161830017" "161830017" "subst" "0.000461473" "01943" "ATF6_000037" "g.161830017A>G" "" "" "" "ATF6(NM_007348.3):c.1554A>G (p.S518=), ATF6(NM_007348.4):c.1554A>G (p.S518=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000874620" "3" "70" "1" "161736237" "161736237" "subst" "0" "00000" "ATF6_000038" "g.161736237G>T" "" "{PMID:Kohl 2015:26029869}" "" "ATF6 c.82+5G>T, p.?" "homozygous" "Germline" "yes" "" "0" "" "" "g.161766447G>T" "" "likely pathogenic" "" "0000874621" "3" "70" "1" "161789483" "161789483" "subst" "1.63506E-5" "00000" "ATF6_000042" "g.161789483C>T" "" "{PMID:Kohl 2015:26029869}" "" "ATF6 c.970C>T, p.(Arg324Cys)" "homozygous" "Germline" "yes" "" "0" "" "" "g.161819693C>T" "" "likely pathogenic" "" "0000874622" "3" "70" "1" "161789483" "161789483" "subst" "1.63506E-5" "00000" "ATF6_000042" "g.161789483C>T" "" "{PMID:Kohl 2015:26029869}" "" "ATF6 c.970C>T, p.(Arg324Cys)" "homozygous" "Germline" "yes" "" "0" "" "" "g.161819693C>T" "" "likely pathogenic" "" "0000874623" "3" "70" "1" "161789483" "161789483" "subst" "1.63506E-5" "00000" "ATF6_000042" "g.161789483C>T" "" "{PMID:Kohl 2015:26029869}" "" "ATF6 c.970C>T, p.(Arg324Cys)" "homozygous" "Germline" "yes" "" "0" "" "" "g.161819693C>T" "" "likely pathogenic" "" "0000874624" "3" "70" "1" "161789483" "161789483" "subst" "1.63506E-5" "00000" "ATF6_000042" "g.161789483C>T" "" "{PMID:Kohl 2015:26029869}" "" "ATF6 c.970C>T, p.(Arg324Cys)" "homozygous" "Germline" "yes" "" "0" "" "" "g.161819693C>T" "" "likely pathogenic" "" "0000874625" "3" "70" "1" "161789483" "161789483" "subst" "1.63506E-5" "00000" "ATF6_000042" "g.161789483C>T" "" "{PMID:Kohl 2015:26029869}" "" "ATF6 c.970C>T, p.(Arg324Cys)" "homozygous" "Germline" "yes" "" "0" "" "" "g.161819693C>T" "" "likely pathogenic" "" "0000874626" "3" "70" "1" "161789483" "161789483" "subst" "1.63506E-5" "00000" "ATF6_000042" "g.161789483C>T" "" "{PMID:Kohl 2015:26029869}" "" "ATF6 c.970C>T, p.(Arg324Cys)" "homozygous" "Germline" "yes" "" "0" "" "" "g.161819693C>T" "" "likely pathogenic" "" "0000874627" "3" "70" "1" "161790956" "161790956" "subst" "0" "00000" "ATF6_000044" "g.161790956G>C" "" "{PMID:Kohl 2015:26029869}" "" "ATF6 c.1187+5G>C, p.?" "homozygous" "Germline" "yes" "" "0" "" "" "g.161821166G>C" "" "likely pathogenic" "" "0000874628" "3" "70" "1" "161790956" "161790956" "subst" "0" "00000" "ATF6_000044" "g.161790956G>C" "" "{PMID:Kohl 2015:26029869}" "" "ATF6 c.1187+5G>C, p.?" "homozygous" "Germline" "yes" "" "0" "" "" "g.161821166G>C" "" "likely pathogenic" "" "0000874629" "3" "70" "1" "161823114" "161823114" "subst" "4.10927E-6" "00000" "ATF6_000016" "g.161823114G>C" "" "{PMID:Kohl 2015:26029869}" "" "ATF6 c.1533+1G>C, p.?" "homozygous" "Germline" "yes" "" "0" "" "" "g.161853324G>C" "" "likely pathogenic" "" "0000874630" "3" "70" "1" "161823114" "161823114" "subst" "4.10927E-6" "00000" "ATF6_000016" "g.161823114G>C" "" "{PMID:Kohl 2015:26029869}" "" "ATF6 c.1533+1G>C, p.?" "homozygous" "Germline" "yes" "" "0" "" "" "g.161853324G>C" "" "likely pathogenic" "" "0000874631" "3" "70" "1" "161823114" "161823114" "subst" "4.10927E-6" "00000" "ATF6_000016" "g.161823114G>C" "" "{PMID:Kohl 2015:26029869}" "" "ATF6 c.1533+1G>C, p.?" "homozygous" "Germline" "yes" "" "0" "" "" "g.161853324G>C" "" "likely pathogenic" "" "0000874632" "3" "70" "1" "161823114" "161823114" "subst" "4.10927E-6" "00000" "ATF6_000016" "g.161823114G>C" "" "{PMID:Kohl 2015:26029869}" "" "ATF6 c.1533+1G>C, p.?" "homozygous" "Germline" "yes" "" "0" "" "" "g.161853324G>C" "" "likely pathogenic" "" "0000874633" "3" "70" "1" "161823114" "161823114" "subst" "4.10927E-6" "00000" "ATF6_000016" "g.161823114G>C" "" "{PMID:Kohl 2015:26029869}" "" "ATF6 c.1533+1G>C, p.?" "homozygous" "Germline" "yes" "" "0" "" "" "g.161853324G>C" "" "likely pathogenic" "" "0000874634" "3" "70" "1" "161833082" "161833082" "subst" "0" "00000" "ATF6_000017" "g.161833082T>A" "" "{PMID:Kohl 2015:26029869}" "" "ATF6 c.1699T>A, p.(Tyr567Asn)" "homozygous" "Germline" "yes" "" "0" "" "" "g.161863292T>A" "" "likely pathogenic" "" "0000874635" "3" "70" "1" "161753885" "161753885" "del" "0" "00000" "ATF6_000039" "g.161753885del" "" "{PMID:Kohl 2015:26029869}" "" "ATF6 c.353delC, p.(Pro118Leufs*31)" "homozygous" "Germline" "yes" "" "0" "" "" "g.161784095del" "" "likely pathogenic" "" "0000874636" "21" "70" "1" "161771950" "161771950" "dup" "0" "00000" "ATF6_000023" "g.161771950dup" "" "{PMID:Kohl 2015:26029869}" "" "ATF6 c.797dupC, p.(Asn267*)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.161802160dup" "" "likely pathogenic" "" "0000874637" "21" "70" "1" "161771950" "161771950" "dup" "0" "00000" "ATF6_000023" "g.161771950dup" "" "{PMID:Kohl 2015:26029869}" "" "ATF6 c.797dupC, p.(Asn267*)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.161802160dup" "" "likely pathogenic" "" "0000874638" "11" "70" "1" "161790874" "161790874" "dup" "0" "00000" "ATF6_000024" "g.161790874dup" "" "{PMID:Kohl 2015:26029869}" "" "ATF6 c.1110dupA, p.(Val371Serfs*3)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.161821084dup" "" "likely pathogenic" "" "0000874639" "11" "70" "1" "161790874" "161790874" "dup" "0" "00000" "ATF6_000024" "g.161790874dup" "" "{PMID:Kohl 2015:26029869}" "" "ATF6 c.1110dupA, p.(Val371Serfs*3)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.161821084dup" "" "likely pathogenic" "" "0000874640" "3" "90" "1" "161761198" "161761198" "dup" "0" "00000" "ATF6_000040" "g.161761198dup" "" "{PMID:Ansar 2015:26063662}" "" "ATF6 c.355_356dupG, (p.Glu119Glyfs*8)" "homozygous" "Germline" "yes" "" "0" "" "" "g.161791408dup" "" "pathogenic" "" "0000874641" "3" "90" "1" "161761198" "161761198" "dup" "0" "00000" "ATF6_000040" "g.161761198dup" "" "{PMID:Ansar 2015:26063662}" "" "ATF6 c.355_356dupG, (p.Glu119Glyfs*8)" "homozygous" "Germline" "yes" "" "0" "" "" "g.161791408dup" "" "pathogenic" "" "0000874642" "3" "90" "1" "161761198" "161761198" "dup" "0" "00000" "ATF6_000040" "g.161761198dup" "" "{PMID:Ansar 2015:26063662}" "" "ATF6 c.355_356dupG, (p.Glu119Glyfs*8)" "homozygous" "Germline" "yes" "" "0" "" "" "g.161791408dup" "" "pathogenic" "" "0000874643" "3" "90" "1" "161761198" "161761198" "dup" "0" "00000" "ATF6_000040" "g.161761198dup" "" "{PMID:Ansar 2015:26063662}" "" "ATF6 c.355_356dupG, (p.Glu119Glyfs*8)" "homozygous" "Germline" "yes" "" "0" "" "" "g.161791408dup" "" "pathogenic" "" "0000874644" "11" "70" "1" "161790890" "161790890" "subst" "8.13742E-6" "00000" "ATF6_000043" "g.161790890C>T" "" "{PMID:Xu 2015:26070061}" "" "ATF6 c.1126C>T, p.R376*" "heterozygous" "Germline" "yes" "" "0" "" "" "g.161821100C>T" "" "likely pathogenic" "" "0000874645" "21" "70" "1" "161823114" "161823114" "subst" "4.10927E-6" "00000" "ATF6_000016" "g.161823114G>C" "" "{PMID:Xu 2015:26070061}" "" "ATF6 c.1533+1G>C" "heterozygous" "Germline" "?" "" "0" "" "" "g.161853324G>C" "" "likely pathogenic" "" "0000874689" "3" "70" "1" "161761940" "161761940" "del" "0" "00000" "ATF6_000041" "g.161761940del" "frequency in 1500 in-house samples: 0" "{PMID:Alfares 2018:30202406}" "" "ATF6, NM_007348.3, c.511del, p.Ile171Phefs*3" "homozygous" "Unknown" "?" "" "0" "" "" "g.161792150del" "" "likely pathogenic" "ACMG" "0000874716" "3" "90" "1" "161833074" "161833074" "subst" "0" "00000" "ATF6_000001" "g.161833074A>G" "" "{PMID:Skorczyk-Werner 2017:28812650}" "" "ATF6 c.1691A>G (p.(Asp564Gly)" "homozygous; athogenicity of the variant was confirmed by functional analyses done on patients\' fibroblasts and on recombinant p.(Asp564Gly) prote" "Germline" "yes" "" "0" "" "" "g.161863284A>G" "" "pathogenic" "" "0000874717" "3" "90" "1" "161833074" "161833074" "subst" "0" "00000" "ATF6_000001" "g.161833074A>G" "" "{PMID:Skorczyk-Werner 2017:28812650}" "" "ATF6 c.1691A>G (p.(Asp564Gly)" "homozygous; athogenicity of the variant was confirmed by functional analyses done on patients\' fibroblasts and on recombinant p.(Asp564Gly) prote" "Germline" "yes" "" "0" "" "" "g.161863284A>G" "" "pathogenic" "" "0000874731" "3" "70" "1" "161833082" "161833082" "subst" "0" "00000" "ATF6_000017" "g.161833082T>A" "" "{PMID:Mastey 2019:31237654}" "" "ATF6 c.1699T>A / p.Tyr567Asn" "homozygous" "Germline" "yes" "" "0" "" "" "g.161863292T>A" "" "likely pathogenic" "" "0000874732" "1" "70" "1" "161789483" "161789483" "subst" "1.63506E-5" "00000" "ATF6_000042" "g.161789483C>T" "" "{PMID:Mastey 2019:31237654}" "" "ATF6 c.970C>T / p.Arg324Cys" "heterozygous" "Germline" "yes" "" "0" "" "" "g.161819693C>T" "" "likely pathogenic" "" "0000874733" "2" "70" "1" "0" "0" "" "0" "00000" "NPHS2_000000" "g.?" "" "{PMID:Mastey 2019:31237654}" "" "ATF6 c.(82+1_83-2)_(247+1_248-1_del)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000881473" "3" "70" "1" "161761260" "161761260" "dup" "0" "00000" "ATF6_000027" "g.161761260dup" "" "{PMID:Ritter 2020:31900015}" "" "ATF6 c.417dupT" "homozygous" "Germline" "yes" "" "0" "" "" "g.161791470dup" "" "likely pathogenic" "" "0000881474" "3" "70" "1" "161789521" "161846830" "delins" "0" "00000" "ATF6_000046" "g.161789521_161846830delinsAGAGCTC" "" "{PMID:Lee 2020:32271167}" "" "ATF6 NG_029773.1:g.58488_115797delinsAGAGCTC; NG_029773:1(ATF6_v001):c.1008_1719+13728delinsAGAGCTC, c.909+1_1720-1del, I304-R573del" "exact breakpoints; deletion of exons 8-14; homozygous" "Germline" "yes" "" "0" "" "" "g.161819731_161877040delinsAGAGCTC" "" "likely pathogenic" "" "0000881475" "3" "70" "1" "161789521" "161846830" "delins" "0" "00000" "ATF6_000046" "g.161789521_161846830delinsAGAGCTC" "" "{PMID:Lee 2020:32271167}" "" "ATF6 c.909+1_1720-1del" "exact breakpoints; deletion of exons 8-14; homozygous" "Germline" "yes" "" "0" "" "" "g.161819731_161877040delinsAGAGCTC" "" "likely pathogenic" "" "0000881476" "1" "70" "1" "161748033" "161751790" "del" "0" "00000" "ATF6_000045" "g.(161736233_161748033)_(161751790_161753779)del" "" "{PMID:Lee 2020:32271167}" "" "ATF6 c.82+1_248-1del, p.D28_T82del" "no actual breakpoints; deletion of exons 2 and 3; heterozygous" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000881477" "2" "70" "1" "161789483" "161789483" "subst" "1.63506E-5" "00000" "ATF6_000042" "g.161789483C>T" "" "{PMID:Lee 2020:32271167}" "" "ATF6 c.970C>T, p.Arg324Cys" "heterozygous" "Germline" "yes" "" "0" "" "" "g.161819693C>T" "" "likely pathogenic" "" "0000882885" "0" "30" "1" "161830017" "161830017" "subst" "0.000461473" "02330" "ATF6_000037" "g.161830017A>G" "" "" "" "ATF6(NM_007348.3):c.1554A>G (p.S518=), ATF6(NM_007348.4):c.1554A>G (p.S518=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882886" "0" "30" "1" "161928228" "161928228" "subst" "2.63894E-5" "02330" "ATF6_000047" "g.161928228G>A" "" "" "" "ATF6(NM_007348.4):c.1805-8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973431" "0" "30" "1" "161771950" "161771950" "subst" "4.06451E-5" "01804" "ATF6_000048" "g.161771950C>T" "" "" "" "ATF6(NM_007348.4):c.797C>T (p.(Pro266Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes ATF6 ## 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}}" "0000150956" "00003024" "90" "1691" "0" "1691" "0" "c.1691A>G" "r.(?)" "p.(Asp564Gly)" "14" "0000163195" "00003024" "90" "1691" "0" "1691" "0" "c.1691A>G" "r.(?)" "p.(Asp564Gly)" "14" "0000245501" "00003024" "10" "159" "14" "159" "14" "c.159+14A>G" "r.(=)" "p.(=)" "" "0000258405" "00003024" "10" "1008" "0" "1008" "0" "c.1008G>A" "r.(?)" "p.(Ala336=)" "" "0000258406" "00003024" "10" "360" "0" "360" "0" "c.360G>A" "r.(?)" "p.(Glu120=)" "" "0000258407" "00003024" "50" "761" "0" "761" "0" "c.761C>T" "r.(?)" "p.(Pro254Leu)" "" "0000258408" "00003024" "30" "833" "0" "833" "0" "c.833C>T" "r.(?)" "p.(Ala278Val)" "" "0000263165" "00003024" "30" "1869" "0" "1869" "0" "c.1869C>G" "r.(?)" "p.(Thr623=)" "" "0000504049" "00003024" "30" "715" "0" "715" "0" "c.715A>G" "r.(?)" "p.(Thr239Ala)" "" "0000504050" "00003024" "50" "901" "0" "901" "0" "c.901G>A" "r.(?)" "p.(Gly301Ser)" "" "0000504051" "00003024" "30" "909" "10" "909" "10" "c.909+10G>T" "r.(=)" "p.(=)" "" "0000504052" "00003024" "30" "1229" "0" "1229" "0" "c.1229G>A" "r.(?)" "p.(Ser410Asn)" "" "0000604957" "00003024" "50" "392" "0" "392" "0" "c.392C>T" "r.(?)" "p.(Pro131Leu)" "" "0000620424" "00003024" "30" "17" "0" "17" "0" "c.17G>T" "r.(?)" "p.(Gly6Val)" "" "0000620425" "00003024" "50" "32" "0" "32" "0" "c.32T>G" "r.(?)" "p.(Met11Arg)" "" "0000620426" "00003024" "50" "1156" "0" "1156" "0" "c.1156G>T" "r.(?)" "p.(Ala386Ser)" "" "0000647426" "00003024" "90" "1533" "1" "1533" "1" "c.1533+1G>C" "r.spl?" "p.?" "" "0000647427" "00003024" "90" "1699" "0" "1699" "0" "c.1699T>A" "r.(?)" "p.(Tyr567Asn)" "" "0000684617" "00003024" "70" "533" "0" "533" "0" "c.533C>G" "r.(?)" "p.(Ser178*)" "" "0000713394" "00003024" "90" "417" "0" "418" "0" "c.417_418insT" "r.(?)" "p.(Asn140*)" "" "0000713616" "00003024" "90" "1018" "0" "1018" "0" "c.1018G>C" "r.(?)" "p.(Ala340Pro)" "" "0000716954" "00003024" "50" "1333" "0" "1333" "0" "c.1333G>A" "r.(?)" "p.(Val445Ile)" "" "0000716955" "00003024" "30" "1617" "0" "1617" "0" "c.1617G>C" "r.(?)" "p.(Gly539=)" "" "0000729794" "00003024" "90" "1691" "0" "1691" "0" "c.1691A>G" "r.(?)" "p.(Asp564Gly)" "" "0000764914" "00003024" "70" "797" "0" "797" "0" "c.797dup" "r.(?)" "p.(Asn267Ter)" "" "0000764936" "00003024" "70" "1110" "0" "1110" "0" "c.1110dup" "r.(?)" "p.(Val371SerfsTer3)" "" "0000794740" "00003024" "90" "949" "0" "949" "0" "c.949C>T" "r.(?)" "p.(Arg317*)" "" "0000798885" "00003024" "30" "360" "0" "360" "0" "c.360G>A" "r.(?)" "p.(Glu120=)" "" "0000798886" "00003024" "30" "688" "10" "688" "10" "c.688+10C>G" "r.(=)" "p.(=)" "" "0000798887" "00003024" "10" "715" "0" "715" "0" "c.715A>G" "r.(?)" "p.(Thr239Ala)" "" "0000820272" "00003024" "70" "797" "0" "797" "0" "c.797dup" "r.(?)" "p.(Asn267*)" "" "0000820273" "00003024" "70" "797" "0" "797" "0" "c.797dup" "r.(?)" "p.(Asn267*)" "" "0000820854" "00003024" "70" "1110" "0" "1110" "0" "c.1110dup" "r.(?)" "p.(Val371Serfs*3)" "" "0000820855" "00003024" "70" "1110" "0" "1110" "0" "c.1110dup" "r.(?)" "p.(Val371Serfs*3)" "" "0000821157" "00003024" "70" "417" "0" "417" "0" "c.417dup" "r.(?)" "p.(Asn140*)" "" "0000821158" "00003024" "70" "1018" "0" "1018" "0" "c.1018G>C" "r.(?)" "p.(Ala340Pro)" "" "0000823741" "00003024" "70" "1127" "0" "1127" "0" "c.1127G>A" "r.(?)" "p.(Arg376Gln)" "" "0000823742" "00003024" "70" "1456" "0" "1456" "0" "c.1456T>G" "r.(?)" "p.(Trp486Gly)" "" "0000823743" "00003024" "70" "1434" "-1" "1434" "-1" "c.1434-1G>A" "r.spl" "p.(?)" "" "0000857113" "00003024" "30" "136" "0" "136" "0" "c.136T>C" "r.(?)" "p.(Leu46=)" "" "0000857114" "00003024" "50" "517" "0" "517" "0" "c.517G>A" "r.(?)" "p.(Val173Met)" "" "0000857115" "00003024" "10" "804" "0" "804" "0" "c.804C>T" "r.(?)" "p.(His268=)" "" "0000857116" "00003024" "50" "1148" "0" "1148" "0" "c.1148T>C" "r.(?)" "p.(Ile383Thr)" "" "0000857117" "00003024" "30" "1327" "0" "1327" "0" "c.1327C>G" "r.(?)" "p.(His443Asp)" "" "0000857118" "00003024" "10" "1416" "0" "1416" "0" "c.1416C>T" "r.(?)" "p.(Asn472=)" "" "0000857119" "00003024" "30" "1554" "0" "1554" "0" "c.1554A>G" "r.(?)" "p.(Ser518=)" "" "0000874620" "00003024" "70" "82" "5" "82" "5" "c.82+5G>T" "r.spl" "p.?" "" "0000874621" "00003024" "70" "970" "0" "970" "0" "c.970C>T" "r.(?)" "p.(Arg324Cys)" "" "0000874622" "00003024" "70" "970" "0" "970" "0" "c.970C>T" "r.(?)" "p.(Arg324Cys)" "" "0000874623" "00003024" "70" "970" "0" "970" "0" "c.970C>T" "r.(?)" "p.(Arg324Cys)" "" "0000874624" "00003024" "70" "970" "0" "970" "0" "c.970C>T" "r.(?)" "p.(Arg324Cys)" "" "0000874625" "00003024" "70" "970" "0" "970" "0" "c.970C>T" "r.(?)" "p.(Arg324Cys)" "" "0000874626" "00003024" "70" "970" "0" "970" "0" "c.970C>T" "r.(?)" "p.(Arg324Cys)" "" "0000874627" "00003024" "70" "1187" "5" "1187" "5" "c.1187+5G>C" "r.spl" "p.?" "" "0000874628" "00003024" "70" "1187" "5" "1187" "5" "c.1187+5G>C" "r.spl" "p.?" "" "0000874629" "00003024" "70" "1533" "1" "1533" "1" "c.1533+1G>C" "r.spl" "p.?" "" "0000874630" "00003024" "70" "1533" "1" "1533" "1" "c.1533+1G>C" "r.spl" "p.?" "" "0000874631" "00003024" "70" "1533" "1" "1533" "1" "c.1533+1G>C" "r.spl" "p.?" "" "0000874632" "00003024" "70" "1533" "1" "1533" "1" "c.1533+1G>C" "r.spl" "p.?" "" "0000874633" "00003024" "70" "1533" "1" "1533" "1" "c.1533+1G>C" "r.spl" "p.?" "" "0000874634" "00003024" "70" "1699" "0" "1699" "0" "c.1699T>A" "r.(?)" "p.(Tyr567Asn)" "" "0000874635" "00003024" "70" "353" "0" "353" "0" "c.353delC" "r.(?)" "p.(Pro118Leufs*31)" "" "0000874636" "00003024" "70" "797" "0" "797" "0" "c.797dupC" "r.(?)" "p.(Asn267*)" "" "0000874637" "00003024" "70" "797" "0" "797" "0" "c.797dupC" "r.(?)" "p.(Asn267*)" "" "0000874638" "00003024" "70" "1110" "0" "1110" "0" "c.1110dupA" "r.(?)" "p.(Val371Serfs*3)" "" "0000874639" "00003024" "70" "1110" "0" "1110" "0" "c.1110dupA" "r.(?)" "p.(Val371Serfs*3)" "" "0000874640" "00003024" "90" "355" "0" "355" "0" "c.355dup" "r.spl" "(p.Glu119Glyfs*8)" "" "0000874641" "00003024" "90" "355" "0" "355" "0" "c.355dup" "r.spl" "(p.Glu119Glyfs*8)" "" "0000874642" "00003024" "90" "355" "0" "355" "0" "c.355dup" "r.spl" "(p.Glu119Glyfs*8)" "" "0000874643" "00003024" "90" "355" "0" "355" "0" "c.355dup" "r.spl" "(p.Glu119Glyfs*8)" "" "0000874644" "00003024" "70" "1126" "0" "1126" "0" "c.1126C>T" "r.(?)" "p.(Arg376*)" "" "0000874645" "00003024" "70" "1533" "1" "1533" "1" "c.1533+1G>C" "r.(?)" "p.(?)" "" "0000874689" "00003024" "70" "511" "0" "511" "0" "c.511del" "r.(?)" "p.(Ile171Phefs*3)" "" "0000874716" "00003024" "90" "1691" "0" "1691" "0" "c.1691A>G" "r.(?)" "p.(Asp564Gly)" "" "0000874717" "00003024" "90" "1691" "0" "1691" "0" "c.1691A>G" "r.(?)" "p.(Asp564Gly)" "" "0000874731" "00003024" "70" "1699" "0" "1699" "0" "c.1699T>A" "r.(?)" "p.(Tyr567Asn)" "" "0000874732" "00003024" "70" "970" "0" "970" "0" "c.970C>T" "r.(?)" "p.(Arg324Cys)" "" "0000874733" "00003024" "70" "83" "-2" "247" "1" "c.(82+1_83-2)_(247+1_248-1)del" "r.(?)" "p.?" "" "0000881473" "00003024" "70" "417" "0" "417" "0" "c.417dupT" "r.(?)" "p.(Asn140*)" "" "0000881474" "00003024" "70" "1008" "0" "1719" "13728" "c.1008_1719+13728delinsAGAGCTC" "r.(?)" "p.?" "" "0000881475" "00003024" "70" "1008" "0" "1719" "13728" "c.1008_1719+13728delinsAGAGCTC" "r.(?)" "p.?" "" "0000881476" "00003024" "70" "83" "-1" "247" "1" "c.(82+1_83-1)_(247+1_248-1)del" "r.(?)" "p.?" "" "0000881477" "00003024" "70" "970" "0" "970" "0" "c.970C>T" "r.(?)" "p.(Arg324Cys)" "" "0000882885" "00003024" "30" "1554" "0" "1554" "0" "c.1554A>G" "r.(?)" "p.(Ser518=)" "" "0000882886" "00003024" "30" "1805" "-8" "1805" "-8" "c.1805-8G>A" "r.(=)" "p.(=)" "" "0000973431" "00003024" "30" "797" "0" "797" "0" "c.797C>T" "r.(?)" "p.(Pro266Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 57 "{{screeningid}}" "{{variantid}}" "0000092520" "0000150956" "0000100814" "0000163195" "0000290737" "0000647426" "0000290738" "0000647427" "0000309744" "0000684617" "0000329271" "0000713394" "0000329493" "0000713616" "0000332516" "0000729794" "0000364152" "0000764914" "0000364152" "0000764936" "0000381339" "0000794740" "0000390927" "0000820272" "0000390927" "0000820854" "0000390928" "0000820273" "0000390928" "0000820855" "0000391408" "0000821157" "0000391409" "0000821158" "0000393121" "0000823741" "0000393121" "0000823742" "0000393122" "0000823743" "0000416500" "0000874620" "0000416501" "0000874621" "0000416502" "0000874622" "0000416503" "0000874623" "0000416504" "0000874624" "0000416505" "0000874625" "0000416506" "0000874626" "0000416507" "0000874627" "0000416508" "0000874628" "0000416509" "0000874629" "0000416510" "0000874630" "0000416511" "0000874631" "0000416512" "0000874632" "0000416513" "0000874633" "0000416514" "0000874634" "0000416515" "0000874635" "0000416516" "0000874636" "0000416516" "0000874638" "0000416517" "0000874637" "0000416517" "0000874639" "0000416518" "0000874640" "0000416519" "0000874641" "0000416520" "0000874642" "0000416521" "0000874643" "0000416522" "0000874644" "0000416522" "0000874645" "0000416561" "0000874689" "0000416577" "0000874716" "0000416578" "0000874717" "0000416588" "0000874731" "0000416589" "0000874732" "0000416589" "0000874733" "0000421037" "0000881473" "0000421038" "0000881474" "0000421039" "0000881475" "0000421040" "0000881476" "0000421040" "0000881477"