Full data view for gene ATF6

Information The variants shown are described using the NM_007348.3 transcript reference sequence.

86 entries on 1 page. Showing entries 1 - 86.
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AscendingDNA change (cDNA)     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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ClinVar ID     

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Methylation     

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Technique     

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Disease     

ID_report     

Reference     

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Gender     

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-?/. - c.17G>T r.(?) p.(Gly6Val) Unknown - likely benign g.161736167G>T g.161766377G>T ATF6(NM_007348.3):c.17G>T (p.G6V) - ATF6_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.32T>G r.(?) p.(Met11Arg) Unknown - VUS g.161736182T>G g.161766392T>G ATF6(NM_007348.3):c.32T>G (p.M11R) - ATF6_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.82+5G>T r.spl p.? Both (homozygous) - likely pathogenic g.161736237G>T g.161766447G>T ATF6 c.82+5G>T, p.? - ATF6_000038 homozygous PubMed: Kohl 2015 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO282-II:1 PubMed: Kohl 2015 Family CHRO282, patient II:1 M - - South Tyrolean - - - - 1 LOVD
+?/. - c.(82+1_83-2)_(247+1_248-1)del r.(?) p.? Parent #2 - likely pathogenic g.? g.? ATF6 c.(82+1_83-2)_(247+1_248-1_del) - NPHS2_000000 heterozygous PubMed: Mastey 2019 - - Germline yes - - - - DNA ? - previously genetically screened retinal disease TM_11446 PubMed: Mastey 2019 - M - - - - - - - 1 LOVD
+?/. - c.(82+1_83-1)_(247+1_248-1)del r.(?) p.? Parent #1 - likely pathogenic g.(161736233_161748033)_(161751790_161753779)del - ATF6 c.82+1_248-1del, p.D28_T82del - ATF6_000045 no actual breakpoints; deletion of exons 2 and 3; heterozygous PubMed: Lee 2020 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Lee 2020 family B M - - - - - - - 1 LOVD
-?/. - c.136T>C r.(?) p.(Leu46=) Unknown - likely benign g.161748087T>C - ATF6(NM_007348.3):c.136T>C (p.L46=) - ATF6_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.159+14A>G r.(=) p.(=) Unknown - benign g.161748124A>G g.161778334A>G ATF6(NM_007348.4):c.159+14A>G - ATF6_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.353delC r.(?) p.(Pro118Leufs*31) Both (homozygous) - likely pathogenic g.161753885del g.161784095del ATF6 c.353delC, p.(Pro118Leufs*31) - ATF6_000039 homozygous PubMed: Kohl 2015 - - Germline yes - - - - DNA SEQ blood - retinal disease ZD179-II:1 PubMed: Kohl 2015 Family ZD179, patient II:1 F - - Turkish - - - - 1 LOVD
+/. - c.355dup r.spl (p.Glu119Glyfs*8) Both (homozygous) - pathogenic g.161761198dup g.161791408dup ATF6 c.355_356dupG, (p.Glu119Glyfs*8) - ATF6_000040 homozygous PubMed: Ansar 2015 - - Germline yes - - - - DNA SEQ-NG-I, SEQ blood exome sequencing retinal disease III-1 PubMed: Ansar 2015 Pakistani family, multiple consanguineous marriages, proband F yes Pakistan Pakistani - - - - 1 LOVD
+/. - c.355dup r.spl (p.Glu119Glyfs*8) Both (homozygous) - pathogenic g.161761198dup g.161791408dup ATF6 c.355_356dupG, (p.Glu119Glyfs*8) - ATF6_000040 homozygous PubMed: Ansar 2015 - - Germline yes - - - - DNA SEQ blood - retinal disease III-4 PubMed: Ansar 2015 Pakistani family, multiple consanguineous marriages, proband's second cousin 1 F yes Pakistan Pakistani - - - - 1 LOVD
+/. - c.355dup r.spl (p.Glu119Glyfs*8) Both (homozygous) - pathogenic g.161761198dup g.161791408dup ATF6 c.355_356dupG, (p.Glu119Glyfs*8) - ATF6_000040 homozygous PubMed: Ansar 2015 - - Germline yes - - - - DNA SEQ blood - retinal disease III-5 PubMed: Ansar 2015 Pakistani family, multiple consanguineous marriages, proband's second cousin 2 M yes Pakistan Pakistani - - - - 1 LOVD
+/. - c.355dup r.spl (p.Glu119Glyfs*8) Both (homozygous) - pathogenic g.161761198dup g.161791408dup ATF6 c.355_356dupG, (p.Glu119Glyfs*8) - ATF6_000040 homozygous PubMed: Ansar 2015 - - Germline yes - - - - DNA SEQ blood - retinal disease IV-1 PubMed: Ansar 2015 Pakistani family, multiple consanguineous marriages, proband's second cousin 3's son M yes Pakistan Pakistani - - - - 1 LOVD
-/. - c.360G>A r.(?) p.(Glu120=) Unknown - benign g.161761203G>A g.161791413G>A ATF6(NM_007348.3):c.360G>A (p.E120=), ATF6(NM_007348.4):c.360G>A (p.E120=) - ATF6_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.360G>A r.(?) p.(Glu120=) Unknown - likely benign g.161761203G>A - ATF6(NM_007348.3):c.360G>A (p.E120=), ATF6(NM_007348.4):c.360G>A (p.E120=) - ATF6_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.392C>T r.(?) p.(Pro131Leu) Unknown - VUS g.161761235C>T g.161791445C>T ATF6(NM_007348.3):c.392C>T (p.P131L) - ATF6_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.417dup r.(?) p.(Asn140*) Both (homozygous) - likely pathogenic g.161761260dup g.161791470dup ATF6 c.417dupT, p.Asn140Ter - ATF6_000027 homozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G001437 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.417dupT r.(?) p.(Asn140*) Both (homozygous) - likely pathogenic g.161761260dup g.161791470dup ATF6 c.417dupT - ATF6_000027 homozygous PubMed: Ritter 2020 - - Germline yes - - - - DNA SEQ - - retinal disease Patient 1 PubMed: Ritter 2020 parents first cousins; in the same publication Patint 2 has already been reported in Kohl 2015 F yes - South Asian - - - - 1 LOVD
+/. - c.417_418insT r.(?) p.(Asn140*) Both (homozygous) - pathogenic (recessive) g.161761260_161761261insT - 1:161761259C>CT ENST00000367942.3:c.417dupT (Asn140Ter) - ATF6_000019 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G001437 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Asia-South - - - - 1 LOVD
+?/. - c.511del r.(?) p.(Ile171Phefs*3) Both (homozygous) ACMG likely pathogenic g.161761940del g.161792150del ATF6, NM_007348.3, c.511del, p.Ile171Phefs*3 - ATF6_000041 homozygous PubMed: Alfares 2018 - - Unknown ? frequency in 1500 in-house samples: 0 - - - DNA SEQ-NG - exome sequencing done at a commercial CAPaccredited laboratory retinal disease 34 PubMed: Alfares 2018 - M - - - - - - - 1 LOVD
?/. - c.517G>A r.(?) p.(Val173Met) Unknown - VUS g.161761946G>A - ATF6(NM_007348.3):c.517G>A (p.V173M) - ATF6_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.533C>G r.(?) p.(Ser178*) Both (homozygous) - likely pathogenic (recessive) g.161761962C>G g.161792172C>G - - ATF6_000018 - PubMed: Holtan 2020 - - Germline - 1/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 1 homozygous patient - - Norway - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.688+10C>G r.(=) p.(=) Unknown - likely benign g.161762127C>G - ATF6(NM_007348.4):c.688+10C>G - ATF6_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.715A>G r.(?) p.(Thr239Ala) Unknown - likely benign g.161771868A>G g.161802078A>G ATF6(NM_007348.3):c.715A>G (p.T239A), ATF6(NM_007348.4):c.715A>G (p.T239A) - ATF6_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.715A>G r.(?) p.(Thr239Ala) Unknown - benign g.161771868A>G - ATF6(NM_007348.3):c.715A>G (p.T239A), ATF6(NM_007348.4):c.715A>G (p.T239A) - ATF6_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.761C>T r.(?) p.(Pro254Leu) Unknown - VUS g.161771914C>T g.161802124C>T ATF6(NM_007348.4):c.761C>T (p.P254L) - ATF6_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.797C>T r.(?) p.(Pro266Leu) Unknown - likely benign g.161771950C>T - ATF6(NM_007348.4):c.797C>T (p.(Pro266Leu)) - ATF6_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.797dup r.(?) p.(Asn267Ter) Parent #1 - likely pathogenic (recessive) g.161771950dup g.161802160dup - - ATF6_000023 - PubMed: Weisschuh 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease CHRO436 PubMed: Weisschuh 2016 family - - Germany - - - - - 1 LOVD
+?/. - c.797dup r.(?) p.(Asn267*) Parent #1 - likely pathogenic g.161771950dup g.161802160dup ATF6, variant 1: c.797dup/p.N267*, variant 2: c.1110dup/p.V371Sfs*3 - ATF6_000023 solved, compound heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 968 PubMed: Weisschuh 2020 Filing key number: 436, achromatopsia, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.797dup r.(?) p.(Asn267*) Parent #1 - likely pathogenic g.161771950dup g.161802160dup ATF6, variant 1: c.797dup/p.N267*, variant 2: c.1110dup/p.V371Sfs*3 - ATF6_000023 solved, compound heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET5 targeted sequencing panel - see paper retinal disease 969 PubMed: Weisschuh 2020 Filing key number: 436, achromatopsia, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.797dupC r.(?) p.(Asn267*) Maternal (confirmed) - likely pathogenic g.161771950dup g.161802160dup ATF6 c.797dupC, p.(Asn267*) - ATF6_000023 compound heterozygous PubMed: Kohl 2015 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO436-II:1 PubMed: Kohl 2015 Family CHRO436, patient II:1 M - - German - - - - 1 LOVD
+?/. - c.797dupC r.(?) p.(Asn267*) Maternal (confirmed) - likely pathogenic g.161771950dup g.161802160dup ATF6 c.797dupC, p.(Asn267*) - ATF6_000023 compound heterozygous PubMed: Kohl 2015 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO436-II:2 PubMed: Kohl 2015 Family CHRO436, patient II:2 F - - German - - - - 1 LOVD
-/. - c.804C>T r.(?) p.(His268=) Unknown - benign g.161771957C>T - ATF6(NM_007348.4):c.804C>T (p.H268=) - ATF6_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.833C>T r.(?) p.(Ala278Val) Unknown - likely benign g.161771986C>T g.161802196C>T ATF6(NM_007348.4):c.833C>T (p.A278V) - ATF6_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.901G>A r.(?) p.(Gly301Ser) Unknown - VUS g.161772054G>A g.161802264G>A ATF6(NM_007348.3):c.901G>A (p.G301S) - ATF6_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.909+10G>T r.(=) p.(=) Unknown - likely benign g.161772072G>T g.161802282G>T ATF6(NM_007348.3):c.909+10G>T - ATF6_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.949C>T r.(?) p.(Arg317*) Both (homozygous) ACMG pathogenic (recessive) g.161789462C>T g.161819672C>T NM_007348.3:c.949C>T; p.(Arg317*) - ATF6_000025 - PubMed: Patel 2018 - - Germline yes - - - - DNA SEQ-NG - 322 eye disease gene panel (negative), WES retinal disease 13DG0012 PubMed: Patel 2018 - - likely Saudi Arabia - - - - - 1 LOVD
+?/. - c.970C>T r.(?) p.(Arg324Cys) Both (homozygous) - likely pathogenic g.161789483C>T g.161819693C>T ATF6 c.970C>T, p.(Arg324Cys) - ATF6_000042 homozygous PubMed: Kohl 2015 - - Germline yes - - - - DNA arraySNP, SEQ blood haplotype analysis - easyLINKAGE retinal disease CHRO628-II:2 PubMed: Kohl 2015 Family CHRO628, patient II:2 M - - Irish - - - - 1 LOVD
+?/. - c.970C>T r.(?) p.(Arg324Cys) Both (homozygous) - likely pathogenic g.161789483C>T g.161819693C>T ATF6 c.970C>T, p.(Arg324Cys) - ATF6_000042 homozygous PubMed: Kohl 2015 - - Germline yes - - - - DNA arraySNP, SEQ blood haplotype analysis - easyLINKAGE retinal disease CHRO628-II:4 PubMed: Kohl 2015 Family CHRO628, patient II:4 F - - Irish - - - - 1 LOVD
+?/. - c.970C>T r.(?) p.(Arg324Cys) Both (homozygous) - likely pathogenic g.161789483C>T g.161819693C>T ATF6 c.970C>T, p.(Arg324Cys) - ATF6_000042 homozygous PubMed: Kohl 2015 - - Germline yes - - - - DNA arraySNP, SEQ blood haplotype analysis - easyLINKAGE retinal disease CHRO628-II:6 PubMed: Kohl 2015 Family CHRO628, patient II:6 F - - Irish - - - - 1 LOVD
+?/. - c.970C>T r.(?) p.(Arg324Cys) Both (homozygous) - likely pathogenic g.161789483C>T g.161819693C>T ATF6 c.970C>T, p.(Arg324Cys) - ATF6_000042 homozygous PubMed: Kohl 2015 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO91-II:1 PubMed: Kohl 2015 Family CHRO91, patient II:1 F - - British - - - - 1 LOVD
+?/. - c.970C>T r.(?) p.(Arg324Cys) Both (homozygous) - likely pathogenic g.161789483C>T g.161819693C>T ATF6 c.970C>T, p.(Arg324Cys) - ATF6_000042 homozygous PubMed: Kohl 2015 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO91-II:2 PubMed: Kohl 2015 Family CHRO91, patient II:2 F - - British - - - - 1 LOVD
+?/. - c.970C>T r.(?) p.(Arg324Cys) Both (homozygous) - likely pathogenic g.161789483C>T g.161819693C>T ATF6 c.970C>T, p.(Arg324Cys) - ATF6_000042 homozygous PubMed: Kohl 2015 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO91-II:3 PubMed: Kohl 2015 Family CHRO91, patient II:3 M - - British - - - - 1 LOVD
+?/. - c.970C>T r.(?) p.(Arg324Cys) Parent #1 - likely pathogenic g.161789483C>T g.161819693C>T ATF6 c.970C>T / p.Arg324Cys - ATF6_000042 heterozygous PubMed: Mastey 2019 - - Germline yes - - - - DNA ? - previously genetically screened retinal disease TM_11446 PubMed: Mastey 2019 - M - - - - - - - 1 LOVD
+?/. - c.970C>T r.(?) p.(Arg324Cys) Parent #2 - likely pathogenic g.161789483C>T g.161819693C>T ATF6 c.970C>T, p.Arg324Cys - ATF6_000042 heterozygous PubMed: Lee 2020 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Lee 2020 family B M - - - - - - - 1 LOVD
-/. - c.1008G>A r.(?) p.(Ala336=) Unknown - benign g.161789521G>A g.161819731G>A ATF6(NM_007348.4):c.1008G>A (p.A336=) - ATF6_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1008_1719+13728delinsAGAGCTC r.(?) p.? Both (homozygous) - likely pathogenic g.161789521_161846830delinsAGAGCTC g.161819731_161877040delinsAGAGCTC ATF6 NG_029773.1:g.58488_115797delinsAGAGCTC; NG_029773:1(ATF6_v001):c.1008_1719+13728delinsAGAGCTC, c.909+1_1720-1del, I304-R573del - ATF6_000046 exact breakpoints; deletion of exons 8-14; homozygous PubMed: Lee 2020 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Lee 2020 family A, sibling 1 M - - - - - - - 1 LOVD
+?/. - c.1008_1719+13728delinsAGAGCTC r.(?) p.? Both (homozygous) - likely pathogenic g.161789521_161846830delinsAGAGCTC g.161819731_161877040delinsAGAGCTC ATF6 c.909+1_1720-1del - ATF6_000046 exact breakpoints; deletion of exons 8-14; homozygous PubMed: Lee 2020 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Lee 2020 family A, sibling 2 - - - - - - - - 1 LOVD
+/. - c.1018G>C r.(?) p.(Ala340Pro) Both (homozygous) - pathogenic (recessive) g.161789531G>C - 1:161789531G>C ENST00000367942.3:c.1018G>C (Ala340Pro) - ATF6_000020 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease W000143 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Asia-South - - - - 1 LOVD
+?/. - c.1018G>C r.(?) p.(Ala340Pro) Both (homozygous) - likely pathogenic g.161789531G>C g.161819741G>C ATF6 c.1018G>C, p.Ala340Pro - ATF6_000020 homozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease W000143 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - 1 LOVD
+?/. - c.1110dup r.(?) p.(Val371SerfsTer3) Parent #2 - likely pathogenic (recessive) g.161790874dup g.161821084dup - - ATF6_000024 - PubMed: Weisschuh 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease CHRO436 PubMed: Weisschuh 2016 family - - Germany - - - - - 1 LOVD
+?/. - c.1110dup r.(?) p.(Val371Serfs*3) Parent #1 - likely pathogenic g.161790874dup g.161821084dup ATF6, variant 1: c.797dup/p.N267*, variant 2: c.1110dup/p.V371Sfs*3 - ATF6_000024 solved, compound heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 968 PubMed: Weisschuh 2020 Filing key number: 436, achromatopsia, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.1110dup r.(?) p.(Val371Serfs*3) Parent #1 - likely pathogenic g.161790874dup g.161821084dup ATF6, variant 1: c.797dup/p.N267*, variant 2: c.1110dup/p.V371Sfs*3 - ATF6_000024 solved, compound heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET5 targeted sequencing panel - see paper retinal disease 969 PubMed: Weisschuh 2020 Filing key number: 436, achromatopsia, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.1110dupA r.(?) p.(Val371Serfs*3) Paternal (confirmed) - likely pathogenic g.161790874dup g.161821084dup ATF6 c.1110dupA, p.(Val371Serfs*3) - ATF6_000024 compound heterozygous PubMed: Kohl 2015 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO436-II:1 PubMed: Kohl 2015 Family CHRO436, patient II:1 M - - German - - - - 1 LOVD
+?/. - c.1110dupA r.(?) p.(Val371Serfs*3) Paternal (confirmed) - likely pathogenic g.161790874dup g.161821084dup ATF6 c.1110dupA, p.(Val371Serfs*3) - ATF6_000024 compound heterozygous PubMed: Kohl 2015 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO436-II:2 PubMed: Kohl 2015 Family CHRO436, patient II:2 F - - German - - - - 1 LOVD
+?/. - c.1126C>T r.(?) p.(Arg376*) Paternal (confirmed) - likely pathogenic g.161790890C>T g.161821100C>T ATF6 c.1126C>T, p.R376* - ATF6_000043 heterozygous PubMed: Xu 2015 - - Germline yes - - - - DNA SEQ-NG-I, SEQ blood exome sequencing retinal disease ? PubMed: Xu 2015 - F - - white - - - - 1 LOVD
+?/. - c.1127G>A r.(?) p.(Arg376Gln) Parent #1 - likely pathogenic g.161790891G>A g.161821101G>A ATF6 c.[1127G>A];[1456T>G] - ATF6_000028 heterozygous; protein change not reported PubMed: Sun 2020 - - Unknown yes - - - - DNA SEQ-NG blood Whole-exome or targeted sequencing retinal disease 14542 PubMed: Sun 2020 - F - China - - - - - 1 LOVD
?/. - c.1148T>C r.(?) p.(Ile383Thr) Unknown - VUS g.161790912T>C - ATF6(NM_007348.3):c.1148T>C (p.I383T) - ATF6_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1156G>T r.(?) p.(Ala386Ser) Unknown - VUS g.161790920G>T g.161821130G>T ATF6(NM_007348.3):c.1156G>T (p.A386S) - ATF6_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1187+5G>C r.spl p.? Both (homozygous) - likely pathogenic g.161790956G>C g.161821166G>C ATF6 c.1187+5G>C, p.? - ATF6_000044 homozygous PubMed: Kohl 2015 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO709-II:1 PubMed: Kohl 2015 Family CHRO709, patient II:1 F - - Asian-Indian - - - - 1 LOVD
+?/. - c.1187+5G>C r.spl p.? Both (homozygous) - likely pathogenic g.161790956G>C g.161821166G>C ATF6 c.1187+5G>C, p.? - ATF6_000044 homozygous PubMed: Kohl 2015 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO709-II:2 PubMed: Kohl 2015 Family CHRO709, patient II:2 F - - Asian-Indian - - - - 1 LOVD
-?/. - c.1229G>A r.(?) p.(Ser410Asn) Unknown - likely benign g.161816280G>A g.161846490G>A ATF6(NM_007348.3):c.1229G>A (p.S410N) - ATF6_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1327C>G r.(?) p.(His443Asp) Unknown - likely benign g.161821519C>G - ATF6(NM_007348.3):c.1327C>G (p.H443D) - ATF6_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1333G>A r.(?) p.(Val445Ile) Unknown - VUS g.161821525G>A - ATF6(NM_007348.3):c.1333G>A (p.V445I) - ATF6_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1416C>T r.(?) p.(Asn472=) Unknown - benign g.161821608C>T - ATF6(NM_007348.4):c.1416C>T (p.N472=) - ATF6_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1434-1G>A r.spl p.(?) Parent #1 - likely pathogenic g.161823013G>A g.161853223G>A ATF6 c.[1434-1G>A];[1434-1G>A] - ATF6_000029 homozygous; protein change not reported PubMed: Sun 2020 - - Unknown yes - - - - DNA SEQ-NG blood Whole-exome or targeted sequencing retinal disease 16187 PubMed: Sun 2020 early childhood onset defined as younger than 8y F - China - - - - - 1 LOVD
+?/. - c.1456T>G r.(?) p.(Trp486Gly) Parent #2 - likely pathogenic g.161823036T>G g.161853246T>G ATF6 c.[1127G>A];[1456T>G] - ATF6_000030 heterozygous; protein change not reported PubMed: Sun 2020 - - Unknown yes - - - - DNA SEQ-NG blood Whole-exome or targeted sequencing retinal disease 14542 PubMed: Sun 2020 - F - China - - - - - 1 LOVD
+/. - c.1533+1G>C r.spl? p.? Parent #1 - pathogenic g.161823114G>C g.161853324G>C - - ATF6_000016 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs797045172 Germline - 1/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+?/. - c.1533+1G>C r.spl p.? Both (homozygous) - likely pathogenic g.161823114G>C g.161853324G>C ATF6 c.1533+1G>C, p.? - ATF6_000016 homozygous PubMed: Kohl 2015 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO593-IV:1 PubMed: Kohl 2015 Family CHRO593, patient IV:1 M - - French-Canadian - - - - 1 LOVD
+?/. - c.1533+1G>C r.spl p.? Both (homozygous) - likely pathogenic g.161823114G>C g.161853324G>C ATF6 c.1533+1G>C, p.? - ATF6_000016 homozygous PubMed: Kohl 2015 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO593-II:3 PubMed: Kohl 2015 Family CHRO593, patient II:3 M - - French-Canadian - - - - 1 LOVD
+?/. - c.1533+1G>C r.spl p.? Both (homozygous) - likely pathogenic g.161823114G>C g.161853324G>C ATF6 c.1533+1G>C, p.? - ATF6_000016 homozygous PubMed: Kohl 2015 - - Germline yes - - - - DNA SEQ blood - retinal disease MOGL411-MOGL467-III:4 PubMed: Kohl 2015 Family MOGL411, patient MOGL467, patient III:4 F - - French-Canadian - - - - 1 LOVD
+?/. - c.1533+1G>C r.spl p.? Both (homozygous) - likely pathogenic g.161823114G>C g.161853324G>C ATF6 c.1533+1G>C, p.? - ATF6_000016 homozygous PubMed: Kohl 2015 - - Germline yes - - - - DNA SEQ blood - retinal disease MOGL411-MOGL467- IV:1 PubMed: Kohl 2015 Family MOGL411, patient MOGL467, patient IV:1 M - - French-Canadian - - - - 1 LOVD
+?/. - c.1533+1G>C r.spl p.? Both (homozygous) - likely pathogenic g.161823114G>C g.161853324G>C ATF6 c.1533+1G>C, p.? - ATF6_000016 homozygous PubMed: Kohl 2015 - - Germline yes - - - - DNA SEQ blood - retinal disease MOGL5414-II:1 PubMed: Kohl 2015 Family MOGL5414, patient II:1 M - - French-Canadian - - - - 1 LOVD
+?/. - c.1533+1G>C r.(?) p.(?) Maternal (confirmed) - likely pathogenic g.161823114G>C g.161853324G>C ATF6 c.1533+1G>C - ATF6_000016 heterozygous PubMed: Xu 2015 - - Germline ? - - - - DNA SEQ-NG-I, SEQ blood exome sequencing retinal disease ? PubMed: Xu 2015 - F - - white - - - - 1 LOVD
-?/. - c.1554A>G r.(?) p.(Ser518=) Unknown - likely benign g.161830017A>G - ATF6(NM_007348.3):c.1554A>G (p.S518=), ATF6(NM_007348.4):c.1554A>G (p.S518=) - ATF6_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1554A>G r.(?) p.(Ser518=) Unknown - likely benign g.161830017A>G - ATF6(NM_007348.3):c.1554A>G (p.S518=), ATF6(NM_007348.4):c.1554A>G (p.S518=) - ATF6_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1617G>C r.(?) p.(Gly539=) Unknown - likely benign g.161833000G>C - ATF6(NM_007348.3):c.1617G>C (p.G539=) - ATF6_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 14 c.1691A>G r.(?) p.(Asp564Gly) Both (homozygous) - pathogenic g.161833074A>G g.161863284A>G - - ATF6_000001 - - - - Germline yes - - - - DNA SEQ-NG-I - - CORD brother - 2-generation family, affected brother/sister M - Poland - - - - - 2 Anna Skorczyk-Werner
+/. 14 c.1691A>G r.(?) p.(Asp564Gly) Both (homozygous) - pathogenic g.161833074A>G g.161863284A>G - - ATF6_000001 - - - - Germline yes - - - - DNA SEQ-NG - - CORD sister - - F ? Poland - - - - - 1 Anna Skorczyk-Werner
+/. - c.1691A>G r.(?) p.(Asp564Gly) Both (homozygous) - pathogenic (recessive) g.161833074A>G g.161863284A>G 1148delC - ATF6_000001 - PubMed: Wawrocka 2018 - - Germline - - - - - DNA SEQ - - retinal disease Fam17 PubMed: Wawrocka 2018 - - - Poland - - - - - 1 LOVD
+/. - c.1691A>G r.(?) p.(Asp564Gly) Both (homozygous) - pathogenic g.161833074A>G g.161863284A>G ATF6 c.1691A>G (p.(Asp564Gly) - ATF6_000001 homozygous; athogenicity of the variant was confirmed by functional analyses done on patients' fibroblasts and on recombinant p.(Asp564Gly) prote PubMed: Skorczyk-Werner 2017 - - Germline yes - - - - DNA arraySNP, SEQ-NG-I, SEQ - retinal genes panel, exome sequencing retinal disease 1 PubMed: Skorczyk-Werner 2017 Polish family, brother of 2 M - Poland Polish - - - - 1 LOVD
+/. - c.1691A>G r.(?) p.(Asp564Gly) Both (homozygous) - pathogenic g.161833074A>G g.161863284A>G ATF6 c.1691A>G (p.(Asp564Gly) - ATF6_000001 homozygous; athogenicity of the variant was confirmed by functional analyses done on patients' fibroblasts and on recombinant p.(Asp564Gly) prote PubMed: Skorczyk-Werner 2017 - - Germline yes - - - - DNA SEQ - - retinal disease 2 PubMed: Skorczyk-Werner 2017 Polish family, sister of 1 F - Poland Polish - - - - 1 LOVD
+/. - c.1699T>A r.(?) p.(Tyr567Asn) Parent #1 - pathogenic g.161833082T>A g.161863292T>A - - ATF6_000017 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs796065053 Germline - 1/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+?/. - c.1699T>A r.(?) p.(Tyr567Asn) Both (homozygous) - likely pathogenic g.161833082T>A g.161863292T>A ATF6 c.1699T>A, p.(Tyr567Asn) - ATF6_000017 homozygous PubMed: Kohl 2015 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO649-II:1 PubMed: Kohl 2015 Family CHRO649, patient II:1 F - - Iranian - - - - 1 LOVD
+?/. - c.1699T>A r.(?) p.(Tyr567Asn) Both (homozygous) - likely pathogenic g.161833082T>A g.161863292T>A ATF6 c.1699T>A / p.Tyr567Asn - ATF6_000017 homozygous PubMed: Mastey 2019 - - Germline yes - - - - DNA ? - previously genetically screened retinal disease AV_10962 PubMed: Mastey 2019 - F - - - - - - - 1 LOVD
-?/. - c.1805-8G>A r.(=) p.(=) Unknown - likely benign g.161928228G>A - ATF6(NM_007348.4):c.1805-8G>A - ATF6_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1869C>G r.(?) p.(Thr623=) Unknown - likely benign g.161928300C>G g.161958510C>G ATF6(NM_007348.3):c.1869C>G (p.T623=) - ATF6_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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