Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NM_007348.4(ATF6):c.3G>T (p.Met1Ile) | 22926 | ATF6 | Pathogenic | 915211840 | RCV001255912; | N | MONDO:MONDO:0014677,MedGen:C4225297,OMIM:616517, Orphanet:49382 | 1 | 161736153 | 161736153 | | | 1:g.161736153G>T | - | | |
NM_007348.4(ATF6):c.82+5G>T | 22926 | ATF6 | Pathogenic | 797045170 | RCV000191035|RCV001093017; | N | MONDO:MONDO:0014677,MedGen:C4225297,OMIM:616517, Orphanet:49382|MedGen:C3661900 | 1 | 161736237 | 161736237 | | | 1:g.161736237G>T | ClinGen:CA214898 | C4225297 616517 Achromatopsia 7; | |
NM_007348.4(ATF6):c.105C>T (p.Leu35=) | 22926 | ATF6 | Benign | 2070151 | RCV001510280|RCV001553870; | N | MedGen:C3661900|MONDO:MONDO:0014677,MedGen:C4225297,OMIM:616517, Orphanet:49382 | 1 | 161748056 | 161748056 | | | 161748056 | - | | |
NM_007348.4(ATF6):c.199A>G (p.Met67Val) | 22926 | ATF6 | Benign | 1058405 | RCV000986451|RCV001518516; | N | MONDO:MONDO:0014677,MedGen:C4225297,OMIM:616517, Orphanet:49382|MedGen:C3661900 | 1 | 161751741 | 161751741 | | | 1:g.161751741A>G | - | | |
NM_007348.4(ATF6):c.270T>C (p.Pro90=) | 22926 | ATF6 | Benign | 2271013 | RCV001510281|RCV001553924; | N | MedGen:C3661900|MONDO:MONDO:0014677,MedGen:C4225297,OMIM:616517, Orphanet:49382 | 1 | 161753802 | 161753802 | | | 161753802 | - | | |
NM_007348.4(ATF6):c.309G>A (p.Ser103=) | 22926 | ATF6 | Benign | 2271012 | RCV001510282|RCV001553925; | N | MedGen:C3661900|MONDO:MONDO:0014677,MedGen:C4225297,OMIM:616517, Orphanet:49382 | 1 | 161753841 | 161753841 | | | 161753841 | - | | |
NM_007348.4(ATF6):c.353del (p.Pro118fs) | 22926 | ATF6 | Pathogenic | 797045171 | RCV000191036; | N | MONDO:MONDO:0014677,MedGen:C4225297,OMIM:616517, Orphanet:49382 | 1 | 161753884 | 161753884 | | | 1:g.161753884_161753884del | ClinGen:CA214899 | C4225297 616517 Achromatopsia 7; | |
NM_007348.3(ATF6):c.355dup | 22926 | ATF6 | Pathogenic | 869320751 | RCV000190367; | N | MONDO:MONDO:0014677,MedGen:C4225297,OMIM:616517, Orphanet:49382 | 1 | 161761196 | 161761197 | | | NC_000001.10:g.161761198dup | ClinGen:CA10575758,OMIM:605537.0001 | C4225297 616517 Achromatopsia 7; | |
NM_007348.4(ATF6):c.511del (p.Ile171fs) | 22926 | ATF6 | Likely pathogenic | 1571134523 | RCV000985102; | N | MONDO:MONDO:0014677,MedGen:C4225297,OMIM:616517, Orphanet:49382 | 1 | 161761934 | 161761934 | | | 1:g.161761934_161761934del | - | | |
NM_007348.4(ATF6):c.677C>A (p.Ala226Glu) | 22926 | ATF6 | Uncertain significance | 1386210791 | RCV001333648; | N | MONDO:MONDO:0014677,MedGen:C4225297,OMIM:616517, Orphanet:49382 | 1 | 161762106 | 161762106 | | | 161762106 | - | | |
NM_007348.4(ATF6):c.709C>T (p.Gln237Ter) | 22926 | ATF6 | Pathogenic | 1571143590 | RCV000986452|RCV001869334; | N | MONDO:MONDO:0014677,MedGen:C4225297,OMIM:616517, Orphanet:49382|MedGen:CN517202 | 1 | 161771862 | 161771862 | | | 1:g.161771862C>T | - | | |
NM_007348.4(ATF6):c.797dup (p.Pro266_Asn267insTer) | 22926 | ATF6 | Pathogenic | 797045173 | RCV000191039; | N | MONDO:MONDO:0014677,MedGen:C4225297,OMIM:616517, Orphanet:49382 | 1 | 161771947 | 161771948 | | | 1:g.161771947_161771948insC | ClinGen:CA214901,OMIM:605537.0004 | C4225297 616517 Achromatopsia 7; | |
NM_007348.4(ATF6):c.854A>G (p.Lys285Arg) | 22926 | ATF6 | Likely pathogenic | 1685168329 | RCV001255913; | N | MONDO:MONDO:0014677,MedGen:C4225297,OMIM:616517, Orphanet:49382 | 1 | 161772007 | 161772007 | | | 1:g.161772007A>G | - | | |
NM_007348.4(ATF6):c.950G>A (p.Arg317Gln) | 22926 | ATF6 | Likely pathogenic | 771933147 | RCV001255911; | N | MONDO:MONDO:0014677,MedGen:C4225297,OMIM:616517, Orphanet:49382 | 1 | 161789463 | 161789463 | | | 1:g.161789463G>A | - | | |
NM_007348.4(ATF6):c.970C>T (p.Arg324Cys) | 22926 | ATF6 | Pathogenic | 761357250 | RCV000190368|RCV001390414|RCV003390920; | N | MONDO:MONDO:0014677,MedGen:C4225297,OMIM:616517, Orphanet:49382|MedGen:C3661900| | 1 | 161789483 | 161789483 | | | 1:g.161789483C>T | ClinGen:CA346915,UniProtKB:P18850#VAR_075681,OMIM:605537.0002 | C4225297 616517 Achromatopsia 7; | |
NM_007348.4(ATF6):c.1110dup (p.Val371fs) | 22926 | ATF6 | Pathogenic | 797045174 | RCV000191040; | N | MONDO:MONDO:0014677,MedGen:C4225297,OMIM:616517, Orphanet:49382 | 1 | 161790871 | 161790872 | | | 1:g.161790871_161790872insA | ClinGen:CA214902,OMIM:605537.0005 | C4225297 616517 Achromatopsia 7; | |
NM_007348.4(ATF6):c.1187+5G>C | 22926 | ATF6 | Pathogenic | 761129859 | RCV000191037; | N | MONDO:MONDO:0014677,MedGen:C4225297,OMIM:616517, Orphanet:49382 | 1 | 161790956 | 161790956 | | | 1:g.161790956G>C | ClinGen:CA214900 | C4225297 616517 Achromatopsia 7; | |
NM_007348.4(ATF6):c.1190_1191insTTTTT (p.Met397fs) | 22926 | ATF6 | Uncertain significance | 1571184566 | RCV000986453; | N | MONDO:MONDO:0014677,MedGen:C4225297,OMIM:616517, Orphanet:49382 | 1 | 161816240 | 161816241 | | | 1:g.161816240_161816241insTTTTT | - | | |
NM_007348.4(ATF6):c.1191G>T (p.Met397Ile) | 22926 | ATF6 | Likely benign | 1285628089 | RCV000986454; | N | MONDO:MONDO:0014677,MedGen:C4225297,OMIM:616517, Orphanet:49382 | 1 | 161816242 | 161816242 | | | 1:g.161816242G>T | - | | |
NM_007348.4(ATF6):c.1434-3T>A | 22926 | ATF6 | Benign | 2257107 | RCV000986455|RCV001513111; | N | MONDO:MONDO:0014677,MedGen:C4225297,OMIM:616517, Orphanet:49382|MedGen:C3661900 | 1 | 161823011 | 161823011 | | | 1:g.161823011T>A | - | | |
NM_007348.4(ATF6):c.1533+1G>C | 22926 | ATF6 | Pathogenic | 797045172 | RCV000191038; | N | MONDO:MONDO:0014677,MedGen:C4225297,OMIM:616517, Orphanet:49382 | 1 | 161823114 | 161823114 | | | 1:g.161823114G>C | ClinGen:CA346964,OMIM:605537.0003 | C4225297 616517 Achromatopsia 7; | |
NM_007348.4(ATF6):c.1699T>A (p.Tyr567Asn) | 22926 | ATF6 | Pathogenic | 796065053 | RCV000190372; | N | MONDO:MONDO:0014677,MedGen:C4225297,OMIM:616517, Orphanet:49382 | 1 | 161833082 | 161833082 | | | NC_000001.10:g.161833082T>A | ClinGen:CA214892,UniProtKB:P18850#VAR_075682,OMIM:605537.0006 | C4225297 616517 Achromatopsia 7; | |
NM_007348.4(ATF6):c.1784del (p.Leu595fs) | 22926 | ATF6 | Likely pathogenic | 1558022158 | RCV000723355; | N | MONDO:MONDO:0014677,MedGen:C4225297,OMIM:616517, Orphanet:49382 | 1 | 161882149 | 161882149 | | | NC_000001.10:g.161882150del | - | | |
NM_007348.4(ATF6):c.1896A>G (p.Ser632=) | 22926 | ATF6 | Benign | 9482 | RCV001517526|RCV001553926; | N | MedGen:C3661900|MONDO:MONDO:0014677,MedGen:C4225297,OMIM:616517, Orphanet:49382 | 1 | 161928327 | 161928327 | | | 161928327 | - | | |