| NM_004371.4(COPA):c.607-8_607-7del |
deletion |
Autoimmune interstitial lung disease-arthritis syndrome [RCV000544468] |
Chr1:160323537..160323538 [GRCh38]
Chr1:160293327..160293328 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1915C>G (p.Leu639Val) |
single nucleotide variant |
not provided [RCV003321278] |
Chr1:160298907 [GRCh38]
Chr1:160268697 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2754+4A>G |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV000543537] |
Chr1:160293382 [GRCh38]
Chr1:160263172 [GRCh37]
Chr1:1q23.2 |
benign |
| GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1 |
copy number loss |
See cases [RCV000051172] |
Chr1:159479887..166895086 [GRCh38]
Chr1:159449677..166864323 [GRCh37]
Chr1:157716301..165130947 [NCBI36]
Chr1:1q23.2-24.1 |
pathogenic |
| GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3 |
copy number gain |
See cases [RCV000051854] |
Chr1:157747246..176021247 [GRCh38]
Chr1:157717036..175990383 [GRCh37]
Chr1:155983660..174257006 [NCBI36]
Chr1:1q23.1-25.1 |
pathogenic |
| GRCh38/hg38 1q23.1-23.3(chr1:156664483-160727411)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051851]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051851]|See cases [RCV000051851] |
Chr1:156664483..160727411 [GRCh38]
Chr1:156634275..160697201 [GRCh37]
Chr1:154900899..158963825 [NCBI36]
Chr1:1q23.1-23.3 |
pathogenic |
| NM_001098398.1(COPA):c.470A>C (p.Gln157Pro) |
single nucleotide variant |
Malignant melanoma [RCV000059957] |
Chr1:160332474 [GRCh38]
Chr1:160302264 [GRCh37]
Chr1:158568888 [NCBI36]
Chr1:1q23.2 |
not provided |
| NM_001098398.1(COPA):c.318C>T (p.Pro106=) |
single nucleotide variant |
Malignant melanoma [RCV000064254] |
Chr1:160333671 [GRCh38]
Chr1:160303461 [GRCh37]
Chr1:158570085 [NCBI36]
Chr1:1q23.2 |
not provided |
| NM_001098398.1(COPA):c.497-2810C>T |
single nucleotide variant |
Lung cancer [RCV000089834] |
Chr1:160328462 [GRCh38]
Chr1:160298252 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| GRCh37/hg19 1q23.2-23.3(chr1:159808188-161011163)x3 |
copy number gain |
not provided [RCV000846649] |
Chr1:159808188..161011163 [GRCh37]
Chr1:1q23.2-23.3 |
uncertain significance |
| NM_004371.4(COPA):c.1772C>A (p.Thr591Asn) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001312435] |
Chr1:160299160 [GRCh38]
Chr1:160268950 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| COPA, LYS230ASN |
variation |
AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE [RCV000180779]|Autoimmune interstitial lung, joint, and kidney disease [RCV000180779] |
|
pathogenic |
| NM_004371.4(COPA):c.2680A>G (p.Ile894Val) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001331214] |
Chr1:160293460 [GRCh38]
Chr1:160263250 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 |
copy number gain |
See cases [RCV000143515] |
Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2 |
pathogenic |
| NM_004371.4(COPA):c.698G>A (p.Arg233His) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV000180776]|See cases [RCV003156081]|not provided [RCV004797790] |
Chr1:160323439 [GRCh38]
Chr1:160293229 [GRCh37]
Chr1:1q23.2 |
pathogenic|likely pathogenic |
| NM_004371.4(COPA):c.728A>G (p.Asp243Gly) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV000180777] |
Chr1:160314104 [GRCh38]
Chr1:160283894 [GRCh37]
Chr1:1q23.2 |
pathogenic|conflicting interpretations of pathogenicity |
| NM_004371.4(COPA):c.721G>A (p.Glu241Lys) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV000180778] |
Chr1:160314111 [GRCh38]
Chr1:160283901 [GRCh37]
Chr1:1q23.2 |
pathogenic|likely pathogenic |
| NM_004371.4(COPA):c.3147+17G>A |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002085714] |
Chr1:160291995 [GRCh38]
Chr1:160261785 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.690G>T (p.Lys230Asn) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV000203296] |
Chr1:160323447 [GRCh38]
Chr1:160293237 [GRCh37]
Chr1:1q23.2 |
pathogenic |
| NM_004371.4(COPA):c.2263+7A>G |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV000547150]|not provided [RCV001702524]|not specified [RCV001726243] |
Chr1:160297336 [GRCh38]
Chr1:160267126 [GRCh37]
Chr1:1q23.2 |
benign|likely benign |
| NM_004371.4(COPA):c.1385G>A (p.Gly462Asp) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001963856] |
Chr1:160306411 [GRCh38]
Chr1:160276201 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2317A>G (p.Ser773Gly) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001368123] |
Chr1:160296096 [GRCh38]
Chr1:160265886 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2213A>G (p.Tyr738Cys) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003239301] |
Chr1:160297393 [GRCh38]
Chr1:160267183 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.714G>C (p.Lys238Asn) |
single nucleotide variant |
not provided [RCV000487939] |
Chr1:160314118 [GRCh38]
Chr1:160283908 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.349A>G (p.Ile117Val) |
single nucleotide variant |
not provided [RCV003223862] |
Chr1:160333640 [GRCh38]
Chr1:160303430 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1741C>T (p.Leu581=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV000530147]|not provided [RCV001824828]|not specified [RCV001796123] |
Chr1:160299191 [GRCh38]
Chr1:160268981 [GRCh37]
Chr1:1q23.2 |
benign|not provided |
| NM_004371.4(COPA):c.1005T>C (p.Tyr335=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV000554122]|not provided [RCV004714076] |
Chr1:160311939 [GRCh38]
Chr1:160281729 [GRCh37]
Chr1:1q23.2 |
benign |
| NM_004371.4(COPA):c.2319C>T (p.Ser773=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV000555046]|not provided [RCV004715300] |
Chr1:160296094 [GRCh38]
Chr1:160265884 [GRCh37]
Chr1:1q23.2 |
benign |
| NM_004371.4(COPA):c.2531G>A (p.Gly844Asp) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV000531066]|COPA-related disorder [RCV003945326] |
Chr1:160294803 [GRCh38]
Chr1:160264593 [GRCh37]
Chr1:1q23.2 |
likely benign|conflicting interpretations of pathogenicity |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 |
copy number gain |
See cases [RCV000510383] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) |
copy number gain |
See cases [RCV000510926] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| NM_004371.4(COPA):c.297G>A (p.Thr99=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV000560491]|not provided [RCV004714077] |
Chr1:160335254 [GRCh38]
Chr1:160305044 [GRCh37]
Chr1:1q23.2 |
benign |
| NM_004371.4(COPA):c.753T>C (p.Asn251=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV000556732] |
Chr1:160314079 [GRCh38]
Chr1:160283869 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.436A>G (p.Thr146Ala) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV000536391]|not provided [RCV004715301] |
Chr1:160332508 [GRCh38]
Chr1:160302298 [GRCh37]
Chr1:1q23.2 |
benign |
| NM_004371.4(COPA):c.2683T>G (p.Ser895Ala) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV000653109]|Inborn genetic diseases [RCV004025897] |
Chr1:160293457 [GRCh38]
Chr1:160263247 [GRCh37]
Chr1:1q23.2 |
likely benign|uncertain significance |
| NM_004371.4(COPA):c.1667+9A>G |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV000653108] |
Chr1:160305424 [GRCh38]
Chr1:160275214 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.3433C>T (p.Leu1145=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV000653107] |
Chr1:160290674 [GRCh38]
Chr1:160260464 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.994A>G (p.Met332Val) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV000653106]|COPA-related disorder [RCV003928138]|not provided [RCV004715329] |
Chr1:160311950 [GRCh38]
Chr1:160281740 [GRCh37]
Chr1:1q23.2 |
benign |
| NM_004371.4(COPA):c.399G>A (p.Gly133=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV000653105] |
Chr1:160332545 [GRCh38]
Chr1:160302335 [GRCh37]
Chr1:1q23.2 |
benign|likely benign |
| NM_004371.4(COPA):c.192A>G (p.Pro64=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV000653104]|COPA-related disorder [RCV003953204]|not provided [RCV004715328] |
Chr1:160339945 [GRCh38]
Chr1:160309735 [GRCh37]
Chr1:1q23.2 |
benign|likely benign |
| NM_004371.4(COPA):c.2314G>A (p.Glu772Lys) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV000653103] |
Chr1:160296099 [GRCh38]
Chr1:160265889 [GRCh37]
Chr1:1q23.2 |
likely benign|uncertain significance |
| NM_004371.4(COPA):c.2519T>C (p.Val840Ala) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV000653102]|Inborn genetic diseases [RCV002534193] |
Chr1:160294815 [GRCh38]
Chr1:160264605 [GRCh37]
Chr1:1q23.2 |
likely benign|uncertain significance |
| NM_004371.4(COPA):c.1220C>T (p.Ala407Val) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV000653101]|Inborn genetic diseases [RCV003163005] |
Chr1:160307245 [GRCh38]
Chr1:160277035 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2725C>T (p.Pro909Ser) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV000653100]|Inborn genetic diseases [RCV004972831] |
Chr1:160293415 [GRCh38]
Chr1:160263205 [GRCh37]
Chr1:1q23.2 |
likely benign|uncertain significance |
| NM_004371.4(COPA):c.722A>C (p.Glu241Ala) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV000699254] |
Chr1:160314110 [GRCh38]
Chr1:160283900 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.715G>C (p.Ala239Pro) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV000700608] |
Chr1:160314117 [GRCh38]
Chr1:160283907 [GRCh37]
Chr1:1q23.2 |
pathogenic|likely pathogenic |
| NM_004371.4(COPA):c.3184G>T (p.Val1062Leu) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV000707289]|Inborn genetic diseases [RCV002532866] |
Chr1:160291893 [GRCh38]
Chr1:160261683 [GRCh37]
Chr1:1q23.2 |
likely benign|uncertain significance |
| NM_004371.4(COPA):c.863G>A (p.Arg288His) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV000702689] |
Chr1:160313147 [GRCh38]
Chr1:160282937 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2398C>T (p.Pro800Ser) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV000695311] |
Chr1:160295814 [GRCh38]
Chr1:160265604 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1406C>T (p.Ala469Val) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV000690663] |
Chr1:160306390 [GRCh38]
Chr1:160276180 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2575G>T (p.Val859Leu) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV000696878]|Inborn genetic diseases [RCV002533467] |
Chr1:160294585 [GRCh38]
Chr1:160264375 [GRCh37]
Chr1:1q23.2 |
benign|uncertain significance |
| GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 |
copy number gain |
not provided [RCV000736295] |
Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 |
copy number gain |
not provided [RCV000736305] |
Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1q23.2-25.2(chr1:159815642-177026983)x1 |
copy number loss |
not provided [RCV000736717] |
Chr1:159815642..177026983 [GRCh37]
Chr1:1q23.2-25.2 |
pathogenic |
| NM_004371.4(COPA):c.228+10G>T |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002548432] |
Chr1:160339899 [GRCh38]
Chr1:160309689 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.3147+9G>T |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001427055] |
Chr1:160292003 [GRCh38]
Chr1:160261793 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1220-6T>C |
single nucleotide variant |
not provided [RCV000927413] |
Chr1:160307251 [GRCh38]
Chr1:160277041 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2904A>C (p.Thr968=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV000884936]|not provided [RCV003411877] |
Chr1:160292540 [GRCh38]
Chr1:160262330 [GRCh37]
Chr1:1q23.2 |
benign|likely benign |
| NM_004371.4(COPA):c.657T>G (p.Leu219=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV000936633] |
Chr1:160323480 [GRCh38]
Chr1:160293270 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1491A>G (p.Ser497=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV000981372] |
Chr1:160305725 [GRCh38]
Chr1:160275515 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1047C>T (p.Ser349=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001435000] |
Chr1:160311897 [GRCh38]
Chr1:160281687 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2808C>T (p.Phe936=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV000976901] |
Chr1:160293181 [GRCh38]
Chr1:160262971 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.3423C>T (p.Thr1141=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV000938061] |
Chr1:160290684 [GRCh38]
Chr1:160260474 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1714C>T (p.Arg572Trp) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001482876] |
Chr1:160299218 [GRCh38]
Chr1:160269008 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2749A>C (p.Thr917Pro) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001040503] |
Chr1:160293391 [GRCh38]
Chr1:160263181 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2379G>C (p.Lys793Asn) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001055127] |
Chr1:160295833 [GRCh38]
Chr1:160265623 [GRCh37]
Chr1:1q23.2 |
likely benign|uncertain significance |
| NM_004371.4(COPA):c.1070_1072dup (p.Leu357dup) |
duplication |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001070141] |
Chr1:160311871..160311872 [GRCh38]
Chr1:160281661..160281662 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1396C>T (p.Leu466Phe) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001048618] |
Chr1:160306400 [GRCh38]
Chr1:160276190 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.778C>T (p.Arg260Cys) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV000808488] |
Chr1:160314054 [GRCh38]
Chr1:160283844 [GRCh37]
Chr1:1q23.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004371.4(COPA):c.607-5T>C |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV000939030] |
Chr1:160323535 [GRCh38]
Chr1:160293325 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2268C>T (p.Ser756=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001490170] |
Chr1:160296145 [GRCh38]
Chr1:160265935 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1443-4T>C |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001459169] |
Chr1:160305777 [GRCh38]
Chr1:160275567 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2420A>C (p.Asn807Thr) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV000966765]|COPA-related disorder [RCV003936025]|not provided [RCV004711466] |
Chr1:160295792 [GRCh38]
Chr1:160265582 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2483G>A (p.Gly828Glu) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV000892961]|COPA-related disorder [RCV003940728] |
Chr1:160294851 [GRCh38]
Chr1:160264641 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.66T>C (p.Pro22=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001427043] |
Chr1:160340269 [GRCh38]
Chr1:160310059 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.229-10G>C |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001419441] |
Chr1:160335332 [GRCh38]
Chr1:160305122 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.766G>C (p.Val256Leu) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV000797293] |
Chr1:160314066 [GRCh38]
Chr1:160283856 [GRCh37]
Chr1:1q23.2 |
benign|uncertain significance |
| NM_004371.4(COPA):c.1472T>C (p.Val491Ala) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV000804934] |
Chr1:160305744 [GRCh38]
Chr1:160275534 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.509A>G (p.Lys170Arg) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV000821480]|Inborn genetic diseases [RCV003243344] |
Chr1:160325640 [GRCh38]
Chr1:160295430 [GRCh37]
Chr1:1q23.2 |
benign|uncertain significance |
| NM_004371.4(COPA):c.3147+4G>A |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV000818795] |
Chr1:160292008 [GRCh38]
Chr1:160261798 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.3380G>A (p.Arg1127His) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001061573]|not provided [RCV000788589] |
Chr1:160291375 [GRCh38]
Chr1:160261165 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2504TTGACA[1] (p.835ID[1]) |
microsatellite |
Autoimmune interstitial lung disease-arthritis syndrome [RCV000801785] |
Chr1:160294819..160294824 [GRCh38]
Chr1:160264609..160264614 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2317A>C (p.Ser773Arg) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV000818396] |
Chr1:160296096 [GRCh38]
Chr1:160265886 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2240G>A (p.Arg747Gln) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001067876] |
Chr1:160297366 [GRCh38]
Chr1:160267156 [GRCh37]
Chr1:1q23.2 |
likely benign|uncertain significance |
| NM_004371.4(COPA):c.925+2T>C |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV000812738] |
Chr1:160313083 [GRCh38]
Chr1:160282873 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1388A>G (p.Asn463Ser) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001065810] |
Chr1:160306408 [GRCh38]
Chr1:160276198 [GRCh37]
Chr1:1q23.2 |
likely benign|uncertain significance |
| NM_004371.4(COPA):c.251G>A (p.Arg84His) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV000805660] |
Chr1:160335300 [GRCh38]
Chr1:160305090 [GRCh37]
Chr1:1q23.2 |
likely benign|uncertain significance |
| NM_004371.4(COPA):c.653C>A (p.Pro218His) |
single nucleotide variant |
not provided [RCV000788651] |
Chr1:160323484 [GRCh38]
Chr1:160293274 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1400G>A (p.Arg467Gln) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001066870]|Inborn genetic diseases [RCV002555859] |
Chr1:160306396 [GRCh38]
Chr1:160276186 [GRCh37]
Chr1:1q23.2 |
likely benign|uncertain significance |
| NM_004371.4(COPA):c.2681T>C (p.Ile894Thr) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001043472] |
Chr1:160293459 [GRCh38]
Chr1:160263249 [GRCh37]
Chr1:1q23.2 |
likely benign|uncertain significance |
| NM_004371.4(COPA):c.3650G>A (p.Arg1217Lys) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001229163] |
Chr1:160290182 [GRCh38]
Chr1:160259972 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2690G>A (p.Gly897Glu) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001210425] |
Chr1:160293450 [GRCh38]
Chr1:160263240 [GRCh37]
Chr1:1q23.2 |
likely benign|uncertain significance |
| NM_004371.4(COPA):c.2263+5G>A |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001201745] |
Chr1:160297338 [GRCh38]
Chr1:160267128 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.402C>A (p.His134Gln) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001225703] |
Chr1:160332542 [GRCh38]
Chr1:160302332 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2349G>C (p.Glu783Asp) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001224018] |
Chr1:160296064 [GRCh38]
Chr1:160265854 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.971C>T (p.Pro324Leu) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001224246] |
Chr1:160311973 [GRCh38]
Chr1:160281763 [GRCh37]
Chr1:1q23.2 |
likely benign|uncertain significance |
| NM_004371.4(COPA):c.2233C>T (p.Arg745Cys) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001224590] |
Chr1:160297373 [GRCh38]
Chr1:160267163 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.3258+4A>G |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001241234] |
Chr1:160291815 [GRCh38]
Chr1:160261605 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2273C>G (p.Ala758Gly) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001225183]|not provided [RCV004792820] |
Chr1:160296140 [GRCh38]
Chr1:160265930 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.962G>A (p.Arg321Gln) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001221750] |
Chr1:160311982 [GRCh38]
Chr1:160281772 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1316A>G (p.Asn439Ser) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001238497] |
Chr1:160306480 [GRCh38]
Chr1:160276270 [GRCh37]
Chr1:1q23.2 |
likely benign|uncertain significance |
| NM_004371.4(COPA):c.3151C>G (p.Gln1051Glu) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001246179]|Inborn genetic diseases [RCV003353264] |
Chr1:160291926 [GRCh38]
Chr1:160261716 [GRCh37]
Chr1:1q23.2 |
likely benign|uncertain significance |
| NM_004371.4(COPA):c.2539G>A (p.Glu847Lys) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001215146] |
Chr1:160294795 [GRCh38]
Chr1:160264585 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.617G>A (p.Arg206His) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001232980] |
Chr1:160323520 [GRCh38]
Chr1:160293310 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1 |
copy number loss |
not provided [RCV000848773] |
Chr1:157321299..167391423 [GRCh37]
Chr1:1q23.1-24.2 |
pathogenic |
| NM_004371.4(COPA):c.2367C>A (p.Asp789Glu) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001858781]|not provided [RCV000994150] |
Chr1:160295845 [GRCh38]
Chr1:160265635 [GRCh37]
Chr1:1q23.2 |
likely benign|uncertain significance |
| NM_004371.4(COPA):c.309+9T>A |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003106938] |
Chr1:160335233 [GRCh38]
Chr1:160305023 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.660T>C (p.Ile220=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001476955] |
Chr1:160323477 [GRCh38]
Chr1:160293267 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.387-4G>T |
single nucleotide variant |
not provided [RCV000952814] |
Chr1:160332561 [GRCh38]
Chr1:160302351 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2544T>C (p.Asp848=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV000925344] |
Chr1:160294790 [GRCh38]
Chr1:160264580 [GRCh37]
Chr1:1q23.2 |
benign |
| NM_004371.4(COPA):c.2015A>T (p.Asn672Ile) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV000931364]|Inborn genetic diseases [RCV004029575] |
Chr1:160297708 [GRCh38]
Chr1:160267498 [GRCh37]
Chr1:1q23.2 |
likely benign|uncertain significance |
| NM_004371.4(COPA):c.582T>C (p.Asp194=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001519037] |
Chr1:160325567 [GRCh38]
Chr1:160295357 [GRCh37]
Chr1:1q23.2 |
benign |
| NM_004371.4(COPA):c.3483C>T (p.Asp1161=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV000909684]|COPA-related disorder [RCV003923127] |
Chr1:160290624 [GRCh38]
Chr1:160260414 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1962G>C (p.Glu654Asp) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001222176] |
Chr1:160298860 [GRCh38]
Chr1:160268650 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1984C>G (p.Leu662Val) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001242310] |
Chr1:160297739 [GRCh38]
Chr1:160267529 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.296C>T (p.Thr99Met) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001226129]|Inborn genetic diseases [RCV003346389] |
Chr1:160335255 [GRCh38]
Chr1:160305045 [GRCh37]
Chr1:1q23.2 |
likely benign|uncertain significance |
| NM_004371.4(COPA):c.531G>A (p.Val177=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001201658] |
Chr1:160325618 [GRCh38]
Chr1:160295408 [GRCh37]
Chr1:1q23.2 |
likely benign|uncertain significance |
| NM_004371.4(COPA):c.1480G>A (p.Val494Ile) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001244910]|Inborn genetic diseases [RCV004034809] |
Chr1:160305736 [GRCh38]
Chr1:160275526 [GRCh37]
Chr1:1q23.2 |
likely benign|uncertain significance |
| NM_004371.4(COPA):c.2086C>T (p.Arg696Cys) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001245397] |
Chr1:160297637 [GRCh38]
Chr1:160267427 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1205C>T (p.Ser402Phe) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001245585]|not provided [RCV004809544] |
Chr1:160309115 [GRCh38]
Chr1:160278905 [GRCh37]
Chr1:1q23.2 |
likely benign|uncertain significance |
| NM_004371.4(COPA):c.680G>A (p.Arg227His) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001240514] |
Chr1:160323457 [GRCh38]
Chr1:160293247 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1943G>T (p.Arg648Leu) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001047531]|Inborn genetic diseases [RCV003259054] |
Chr1:160298879 [GRCh38]
Chr1:160268669 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1586G>A (p.Arg529His) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001220714]|not provided [RCV004590236] |
Chr1:160305514 [GRCh38]
Chr1:160275304 [GRCh37]
Chr1:1q23.2 |
likely benign|uncertain significance |
| NM_004371.4(COPA):c.563A>T (p.Asp188Val) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001235032] |
Chr1:160325586 [GRCh38]
Chr1:160295376 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.229-3C>T |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001235072] |
Chr1:160335325 [GRCh38]
Chr1:160305115 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.228+5A>G |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001217988] |
Chr1:160339904 [GRCh38]
Chr1:160309694 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.47G>A (p.Ser16Asn) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001221526] |
Chr1:160340288 [GRCh38]
Chr1:160310078 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2316G>A (p.Glu772=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001433693] |
Chr1:160296097 [GRCh38]
Chr1:160265887 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2804C>G (p.Ser935Cys) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001050736] |
Chr1:160293185 [GRCh38]
Chr1:160262975 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.990C>T (p.Gly330=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001069569] |
Chr1:160311954 [GRCh38]
Chr1:160281744 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2150G>A (p.Arg717His) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001207523] |
Chr1:160297573 [GRCh38]
Chr1:160267363 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.718T>A (p.Trp240Arg) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001201798] |
Chr1:160314114 [GRCh38]
Chr1:160283904 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2890G>A (p.Ala964Thr) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001054006] |
Chr1:160292554 [GRCh38]
Chr1:160262344 [GRCh37]
Chr1:1q23.2 |
likely benign|uncertain significance |
| NM_004371.4(COPA):c.3025C>T (p.Arg1009Trp) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001234118] |
Chr1:160292134 [GRCh38]
Chr1:160261924 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1072C>T (p.Arg358Trp) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001054213] |
Chr1:160311872 [GRCh38]
Chr1:160281662 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2263+4A>G |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001219494] |
Chr1:160297339 [GRCh38]
Chr1:160267129 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2149C>T (p.Arg717Cys) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001041190]|not provided [RCV004691319] |
Chr1:160297574 [GRCh38]
Chr1:160267364 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1100A>G (p.Asn367Ser) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001212127] |
Chr1:160310235 [GRCh38]
Chr1:160280025 [GRCh37]
Chr1:1q23.2 |
benign|uncertain significance |
| NM_004371.4(COPA):c.3425G>A (p.Arg1142Gln) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001050159]|Inborn genetic diseases [RCV004973298] |
Chr1:160290682 [GRCh38]
Chr1:160260472 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1109A>C (p.Tyr370Ser) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001064662] |
Chr1:160310226 [GRCh38]
Chr1:160280016 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1527C>T (p.His509=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001212656] |
Chr1:160305689 [GRCh38]
Chr1:160275479 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2234G>A (p.Arg745His) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001051396]|not provided [RCV004691321] |
Chr1:160297372 [GRCh38]
Chr1:160267162 [GRCh37]
Chr1:1q23.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_004371.4(COPA):c.766G>A (p.Val256Ile) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001230828] |
Chr1:160314066 [GRCh38]
Chr1:160283856 [GRCh37]
Chr1:1q23.2 |
likely benign|uncertain significance |
| NM_004371.4(COPA):c.2765A>G (p.Asn922Ser) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001204354] |
Chr1:160293224 [GRCh38]
Chr1:160263014 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1618G>A (p.Val540Ile) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001203158] |
Chr1:160305482 [GRCh38]
Chr1:160275272 [GRCh37]
Chr1:1q23.2 |
likely benign|uncertain significance |
| NM_004371.4(COPA):c.1873A>G (p.Ile625Val) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001204308]|Inborn genetic diseases [RCV002561153]|not provided [RCV003405388] |
Chr1:160298949 [GRCh38]
Chr1:160268739 [GRCh37]
Chr1:1q23.2 |
likely benign|uncertain significance |
| NM_004371.4(COPA):c.2536G>A (p.Gly846Arg) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001038913] |
Chr1:160294798 [GRCh38]
Chr1:160264588 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.3552G>T (p.Lys1184Asn) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001228687] |
Chr1:160290555 [GRCh38]
Chr1:160260345 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2809G>A (p.Glu937Lys) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001257135]|Inborn genetic diseases [RCV002570617] |
Chr1:160293180 [GRCh38]
Chr1:160262970 [GRCh37]
Chr1:1q23.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NC_000001.10:g.(?_130980840)_(248900000_?)dup |
duplication |
Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] |
Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44 |
uncertain significance |
| NM_004371.4(COPA):c.1456G>T (p.Val486Leu) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001313619] |
Chr1:160305760 [GRCh38]
Chr1:160275550 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.3259A>T (p.Met1087Leu) |
single nucleotide variant |
Systemic autoinflammation [RCV001807867] |
Chr1:160291496 [GRCh38]
Chr1:160261286 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.718T>C (p.Trp240Arg) |
single nucleotide variant |
not provided [RCV001311658] |
Chr1:160314114 [GRCh38]
Chr1:160283904 [GRCh37]
Chr1:1q23.2 |
pathogenic |
| NM_004371.4(COPA):c.2296G>T (p.Gly766Cys) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001327177] |
Chr1:160296117 [GRCh38]
Chr1:160265907 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2526A>G (p.Thr842=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001316515] |
Chr1:160294808 [GRCh38]
Chr1:160264598 [GRCh37]
Chr1:1q23.2 |
likely benign|uncertain significance |
| NM_004371.4(COPA):c.1631C>A (p.Thr544Asn) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001342507] |
Chr1:160305469 [GRCh38]
Chr1:160275259 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2960+6G>T |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001303437] |
Chr1:160292478 [GRCh38]
Chr1:160262268 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1505A>G (p.His502Arg) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001342596] |
Chr1:160305711 [GRCh38]
Chr1:160275501 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.790A>G (p.Ile264Val) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001307151] |
Chr1:160314042 [GRCh38]
Chr1:160283832 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1357T>C (p.Cys453Arg) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001316301] |
Chr1:160306439 [GRCh38]
Chr1:160276229 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.874G>T (p.Asp292Tyr) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001300665] |
Chr1:160313136 [GRCh38]
Chr1:160282926 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.264A>T (p.Thr88=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001423197] |
Chr1:160335287 [GRCh38]
Chr1:160305077 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2981A>G (p.Asn994Ser) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001338482] |
Chr1:160292178 [GRCh38]
Chr1:160261968 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2961-15C>T |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001413546] |
Chr1:160292213 [GRCh38]
Chr1:160262003 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2822G>A (p.Arg941Gln) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001319851]|not provided [RCV004691413] |
Chr1:160293167 [GRCh38]
Chr1:160262957 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.3026G>A (p.Arg1009Gln) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001345673]|Inborn genetic diseases [RCV004978376] |
Chr1:160292133 [GRCh38]
Chr1:160261923 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.3281C>T (p.Ser1094Leu) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001323857] |
Chr1:160291474 [GRCh38]
Chr1:160261264 [GRCh37]
Chr1:1q23.2 |
likely benign|uncertain significance |
| NM_004371.4(COPA):c.1073G>A (p.Arg358Gln) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001346517]|Inborn genetic diseases [RCV004036493] |
Chr1:160311871 [GRCh38]
Chr1:160281661 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.3172C>T (p.Arg1058Cys) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001364746] |
Chr1:160291905 [GRCh38]
Chr1:160261695 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1303-3C>T |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001298002] |
Chr1:160306496 [GRCh38]
Chr1:160276286 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.3248G>A (p.Arg1083His) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001299171]|Inborn genetic diseases [RCV004036128] |
Chr1:160291829 [GRCh38]
Chr1:160261619 [GRCh37]
Chr1:1q23.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_004371.4(COPA):c.1322A>G (p.Lys441Arg) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001315858] |
Chr1:160306474 [GRCh38]
Chr1:160276264 [GRCh37]
Chr1:1q23.2 |
likely benign|uncertain significance |
| NM_004371.4(COPA):c.650T>C (p.Met217Thr) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001338005] |
Chr1:160323487 [GRCh38]
Chr1:160293277 [GRCh37]
Chr1:1q23.2 |
benign|uncertain significance |
| NM_004371.4(COPA):c.2731A>G (p.Thr911Ala) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001347065] |
Chr1:160293409 [GRCh38]
Chr1:160263199 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2276A>G (p.Tyr759Cys) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001305722] |
Chr1:160296137 [GRCh38]
Chr1:160265927 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2823+3A>G |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001305818] |
Chr1:160293163 [GRCh38]
Chr1:160262953 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1849A>G (p.Asn617Asp) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001345163] |
Chr1:160298973 [GRCh38]
Chr1:160268763 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.3331C>A (p.Leu1111Met) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001358903] |
Chr1:160291424 [GRCh38]
Chr1:160261214 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.772C>T (p.His258Tyr) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001308865] |
Chr1:160314060 [GRCh38]
Chr1:160283850 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.3140T>C (p.Ile1047Thr) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001300740] |
Chr1:160292019 [GRCh38]
Chr1:160261809 [GRCh37]
Chr1:1q23.2 |
likely benign|uncertain significance |
| NM_004371.4(COPA):c.1363G>A (p.Glu455Lys) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001359819] |
Chr1:160306433 [GRCh38]
Chr1:160276223 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.385T>C (p.Cys129Arg) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001347974] |
Chr1:160333604 [GRCh38]
Chr1:160303394 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2974C>G (p.Leu992Val) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001301035] |
Chr1:160292185 [GRCh38]
Chr1:160261975 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.3422C>T (p.Thr1141Ile) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001314341]|not provided [RCV004691411] |
Chr1:160290685 [GRCh38]
Chr1:160260475 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.331G>A (p.Ala111Thr) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001340984]|not provided [RCV003405573] |
Chr1:160333658 [GRCh38]
Chr1:160303448 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1874T>C (p.Ile625Thr) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001353355] |
Chr1:160298948 [GRCh38]
Chr1:160268738 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.337G>A (p.Asp113Asn) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001369985] |
Chr1:160333652 [GRCh38]
Chr1:160303442 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1479C>T (p.Tyr493=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001494009] |
Chr1:160305737 [GRCh38]
Chr1:160275527 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2824-16T>C |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001519296] |
Chr1:160292636 [GRCh38]
Chr1:160262426 [GRCh37]
Chr1:1q23.2 |
benign |
| NM_004371.4(COPA):c.386+20G>A |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001401986] |
Chr1:160333583 [GRCh38]
Chr1:160303373 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1978-17C>T |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001486976] |
Chr1:160297762 [GRCh38]
Chr1:160267552 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2889C>T (p.Tyr963=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001490527]|not provided [RCV004809643] |
Chr1:160292555 [GRCh38]
Chr1:160262345 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.3421-5C>T |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001478427] |
Chr1:160290691 [GRCh38]
Chr1:160260481 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2749A>G (p.Thr917Ala) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001451246]|not provided [RCV004711639] |
Chr1:160293391 [GRCh38]
Chr1:160263181 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.399G>T (p.Gly133=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001510309]|not provided [RCV003405696] |
Chr1:160332545 [GRCh38]
Chr1:160302335 [GRCh37]
Chr1:1q23.2 |
benign|likely benign |
| NM_004371.4(COPA):c.1680C>T (p.Ile560=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001425418] |
Chr1:160299252 [GRCh38]
Chr1:160269042 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1667+13T>C |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001484667] |
Chr1:160305420 [GRCh38]
Chr1:160275210 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.609T>G (p.Gly203=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001490992] |
Chr1:160323528 [GRCh38]
Chr1:160293318 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.820C>A (p.Arg274=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001491000] |
Chr1:160314012 [GRCh38]
Chr1:160283802 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.3615+9T>C |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001485212] |
Chr1:160290483 [GRCh38]
Chr1:160260273 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.3324C>T (p.Ala1108=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001471820] |
Chr1:160291431 [GRCh38]
Chr1:160261221 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2559G>A (p.Leu853=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001503457] |
Chr1:160294775 [GRCh38]
Chr1:160264565 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2353-19C>G |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001522491]|not provided [RCV001597288] |
Chr1:160295878 [GRCh38]
Chr1:160265668 [GRCh37]
Chr1:1q23.2 |
benign |
| NM_004371.4(COPA):c.763G>A (p.Ala255Thr) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001493070] |
Chr1:160314069 [GRCh38]
Chr1:160283859 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2292C>G (p.Thr764=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001474753] |
Chr1:160296121 [GRCh38]
Chr1:160265911 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.3147+16C>T |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001505009] |
Chr1:160291996 [GRCh38]
Chr1:160261786 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1674C>T (p.His558=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001472806] |
Chr1:160299258 [GRCh38]
Chr1:160269048 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2493G>A (p.Leu831=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001410111] |
Chr1:160294841 [GRCh38]
Chr1:160264631 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1443-5C>T |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001431128] |
Chr1:160305778 [GRCh38]
Chr1:160275568 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.706+12G>A |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001398063] |
Chr1:160323419 [GRCh38]
Chr1:160293209 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.3396G>T (p.Gly1132=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001423636] |
Chr1:160291359 [GRCh38]
Chr1:160261149 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2754+7G>A |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001401483] |
Chr1:160293379 [GRCh38]
Chr1:160263169 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.765C>T (p.Ala255=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001444911] |
Chr1:160314067 [GRCh38]
Chr1:160283857 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.34G>A (p.Val12Ile) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001431520] |
Chr1:160343137 [GRCh38]
Chr1:160312927 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1809G>T (p.Leu603=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001447617] |
Chr1:160299123 [GRCh38]
Chr1:160268913 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2724G>A (p.Val908=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001427213] |
Chr1:160293416 [GRCh38]
Chr1:160263206 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.894T>C (p.Ala298=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001443375] |
Chr1:160313116 [GRCh38]
Chr1:160282906 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.717A>T (p.Ala239=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001495118] |
Chr1:160314115 [GRCh38]
Chr1:160283905 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2712T>C (p.Asp904=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001502453]|not provided [RCV003405692] |
Chr1:160293428 [GRCh38]
Chr1:160263218 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.3384A>G (p.Leu1128=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001499491] |
Chr1:160291371 [GRCh38]
Chr1:160261161 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1978-20C>T |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001516116]|not provided [RCV004714240] |
Chr1:160297765 [GRCh38]
Chr1:160267555 [GRCh37]
Chr1:1q23.2 |
benign |
| NM_004371.4(COPA):c.858T>C (p.Thr286=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001476625] |
Chr1:160313152 [GRCh38]
Chr1:160282942 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.40+17G>C |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001512078]|not provided [RCV004714226] |
Chr1:160343114 [GRCh38]
Chr1:160312904 [GRCh37]
Chr1:1q23.2 |
benign |
| NM_004371.4(COPA):c.1944C>G (p.Arg648=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001452474] |
Chr1:160298878 [GRCh38]
Chr1:160268668 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1219+7G>C |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001462886] |
Chr1:160309094 [GRCh38]
Chr1:160278884 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.387-8del |
deletion |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001522256] |
Chr1:160332565 [GRCh38]
Chr1:160302355 [GRCh37]
Chr1:1q23.2 |
benign |
| NM_004371.4(COPA):c.567A>G (p.Leu189=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001470360] |
Chr1:160325582 [GRCh38]
Chr1:160295372 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1149T>C (p.Ala383=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001484065] |
Chr1:160309171 [GRCh38]
Chr1:160278961 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1164T>C (p.Asn388=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001497700] |
Chr1:160309156 [GRCh38]
Chr1:160278946 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.264A>G (p.Thr88=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001497736] |
Chr1:160335287 [GRCh38]
Chr1:160305077 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2551C>T (p.Leu851=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001460087] |
Chr1:160294783 [GRCh38]
Chr1:160264573 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2116C>T (p.Leu706=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001480569] |
Chr1:160297607 [GRCh38]
Chr1:160267397 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.497-20C>T |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001513319]|not provided [RCV004715439] |
Chr1:160325672 [GRCh38]
Chr1:160295462 [GRCh37]
Chr1:1q23.2 |
benign |
| NM_004371.4(COPA):c.387-17dup |
duplication |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001523291] |
Chr1:160332564..160332565 [GRCh38]
Chr1:160302354..160302355 [GRCh37]
Chr1:1q23.2 |
benign |
| NM_004371.4(COPA):c.2566+6A>G |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001505121] |
Chr1:160294762 [GRCh38]
Chr1:160264552 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.3192G>A (p.Leu1064=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001522876]|COPA-related disorder [RCV003931138] |
Chr1:160291885 [GRCh38]
Chr1:160261675 [GRCh37]
Chr1:1q23.2 |
benign|likely benign |
| NM_004371.4(COPA):c.198C>T (p.Phe66=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001474148]|not specified [RCV005237842] |
Chr1:160339939 [GRCh38]
Chr1:160309729 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.432C>T (p.His144=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001510520]|COPA-related disorder [RCV003908803] |
Chr1:160332512 [GRCh38]
Chr1:160302302 [GRCh37]
Chr1:1q23.2 |
benign|likely benign |
| NM_004371.4(COPA):c.6A>G (p.Leu2=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001471348] |
Chr1:160343165 [GRCh38]
Chr1:160312955 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1076+13T>A |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001514867]|not provided [RCV004715444] |
Chr1:160311855 [GRCh38]
Chr1:160281645 [GRCh37]
Chr1:1q23.2 |
benign|likely benign |
| NM_004371.4(COPA):c.1442+8A>T |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001406443] |
Chr1:160306346 [GRCh38]
Chr1:160276136 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.3331C>T (p.Leu1111=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001519792] |
Chr1:160291424 [GRCh38]
Chr1:160261214 [GRCh37]
Chr1:1q23.2 |
benign |
| NM_004371.4(COPA):c.2961-7T>C |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001443112] |
Chr1:160292205 [GRCh38]
Chr1:160261995 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2476+11A>G |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001511737]|not provided [RCV004715432]|not specified [RCV003394088] |
Chr1:160295725 [GRCh38]
Chr1:160265515 [GRCh37]
Chr1:1q23.2 |
benign |
| NM_004371.4(COPA):c.2655T>C (p.Asp885=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001498837] |
Chr1:160294505 [GRCh38]
Chr1:160264295 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.363C>T (p.Asn121=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001517525]|not provided [RCV001824978]|not specified [RCV003394095] |
Chr1:160333626 [GRCh38]
Chr1:160303416 [GRCh37]
Chr1:1q23.2 |
benign|not provided |
| NM_004371.4(COPA):c.174C>T (p.Asp58=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001499361] |
Chr1:160339963 [GRCh38]
Chr1:160309753 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2557T>C (p.Leu853=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001393560] |
Chr1:160294777 [GRCh38]
Chr1:160264567 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2580G>A (p.Glu860=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001477044] |
Chr1:160294580 [GRCh38]
Chr1:160264370 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2960+13T>G |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001515815]|not provided [RCV004714239] |
Chr1:160292471 [GRCh38]
Chr1:160262261 [GRCh37]
Chr1:1q23.2 |
benign |
| NM_004371.4(COPA):c.3248G>T (p.Arg1083Leu) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001416622]|not provided [RCV004711607]|not specified [RCV001732181] |
Chr1:160291829 [GRCh38]
Chr1:160261619 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.396A>G (p.Thr132=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001482474] |
Chr1:160332548 [GRCh38]
Chr1:160302338 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.3663G>A (p.Leu1221=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001424878] |
Chr1:160290169 [GRCh38]
Chr1:160259959 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.314A>G (p.Tyr105Cys) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003108591] |
Chr1:160333675 [GRCh38]
Chr1:160303465 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1077-6CT[3] |
microsatellite |
not specified [RCV002238611] |
Chr1:160310260..160310261 [GRCh38]
Chr1:160280050..160280051 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.426G>T (p.Gln142His) |
single nucleotide variant |
not provided [RCV001752125] |
Chr1:160332518 [GRCh38]
Chr1:160302308 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2334T>A (p.Phe778Leu) |
single nucleotide variant |
not provided [RCV001770866] |
Chr1:160296079 [GRCh38]
Chr1:160265869 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.725T>A (p.Val242Asp) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001909828] |
Chr1:160314107 [GRCh38]
Chr1:160283897 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2666C>G (p.Pro889Arg) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002024906] |
Chr1:160294494 [GRCh38]
Chr1:160264284 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.3533G>A (p.Arg1178His) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001988470]|Inborn genetic diseases [RCV002608020] |
Chr1:160290574 [GRCh38]
Chr1:160260364 [GRCh37]
Chr1:1q23.2 |
likely benign|uncertain significance |
| NM_004371.4(COPA):c.2556G>T (p.Gln852His) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001929287] |
Chr1:160294778 [GRCh38]
Chr1:160264568 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2575G>A (p.Val859Met) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002007999] |
Chr1:160294585 [GRCh38]
Chr1:160264375 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1508T>C (p.Val503Ala) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001890710] |
Chr1:160305708 [GRCh38]
Chr1:160275498 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2608C>T (p.Leu870Phe) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001985323]|Inborn genetic diseases [RCV004975970] |
Chr1:160294552 [GRCh38]
Chr1:160264342 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.779G>A (p.Arg260His) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002040775] |
Chr1:160314053 [GRCh38]
Chr1:160283843 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1723G>A (p.Gly575Ser) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001965216] |
Chr1:160299209 [GRCh38]
Chr1:160268999 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.725T>C (p.Val242Ala) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002052128] |
Chr1:160314107 [GRCh38]
Chr1:160283897 [GRCh37]
Chr1:1q23.2 |
likely pathogenic |
| NM_004371.4(COPA):c.305A>G (p.His102Arg) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002021180] |
Chr1:160335246 [GRCh38]
Chr1:160305036 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2515A>T (p.Thr839Ser) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002003245] |
Chr1:160294819 [GRCh38]
Chr1:160264609 [GRCh37]
Chr1:1q23.2 |
likely benign|uncertain significance |
| NM_004371.4(COPA):c.1303C>A (p.Leu435Ile) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002023995] |
Chr1:160306493 [GRCh38]
Chr1:160276283 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.647C>T (p.Thr216Ile) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001872538] |
Chr1:160323490 [GRCh38]
Chr1:160293280 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.3377G>A (p.Arg1126Gln) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001945245]|Inborn genetic diseases [RCV002557681] |
Chr1:160291378 [GRCh38]
Chr1:160261168 [GRCh37]
Chr1:1q23.2 |
benign|uncertain significance |
| NM_004371.4(COPA):c.2329A>T (p.Thr777Ser) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001927876] |
Chr1:160296084 [GRCh38]
Chr1:160265874 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.3512C>T (p.Ala1171Val) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001892409] |
Chr1:160290595 [GRCh38]
Chr1:160260385 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.481G>A (p.Val161Ile) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002042341] |
Chr1:160332463 [GRCh38]
Chr1:160302253 [GRCh37]
Chr1:1q23.2 |
benign|uncertain significance |
| NM_004371.4(COPA):c.1367TCT[1] (p.Phe457del) |
microsatellite |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001911907] |
Chr1:160306424..160306426 [GRCh38]
Chr1:160276214..160276216 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.887T>A (p.Val296Asp) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001968437] |
Chr1:160313123 [GRCh38]
Chr1:160282913 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.3196G>T (p.Val1066Leu) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002041402]|Inborn genetic diseases [RCV002545304] |
Chr1:160291881 [GRCh38]
Chr1:160261671 [GRCh37]
Chr1:1q23.2 |
likely benign|uncertain significance |
| NM_004371.4(COPA):c.3332T>G (p.Leu1111Arg) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001887496] |
Chr1:160291423 [GRCh38]
Chr1:160261213 [GRCh37]
Chr1:1q23.2 |
likely benign|uncertain significance |
| NM_004371.4(COPA):c.386+7C>T |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001944640] |
Chr1:160333596 [GRCh38]
Chr1:160303386 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1759C>T (p.Pro587Ser) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001944229] |
Chr1:160299173 [GRCh38]
Chr1:160268963 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2330C>T (p.Thr777Ile) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001907198] |
Chr1:160296083 [GRCh38]
Chr1:160265873 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NC_000001.10:g.(?_160090676)_(160327063_?)dup |
duplication |
Familial hemiplegic migraine [RCV002037093]|Peroxisome biogenesis disorder 12A (Zellweger) [RCV002037094] |
Chr1:160090676..160327063 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.528G>A (p.Ala176=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001944328] |
Chr1:160325621 [GRCh38]
Chr1:160295411 [GRCh37]
Chr1:1q23.2 |
likely benign|uncertain significance |
| NM_004371.4(COPA):c.2373T>G (p.Asn791Lys) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002025975]|COPA-related disorder [RCV003948867] |
Chr1:160295839 [GRCh38]
Chr1:160265629 [GRCh37]
Chr1:1q23.2 |
likely benign|uncertain significance |
| NM_004371.4(COPA):c.700A>G (p.Met234Val) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001975866] |
Chr1:160323437 [GRCh38]
Chr1:160293227 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2314G>C (p.Glu772Gln) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001979249] |
Chr1:160296099 [GRCh38]
Chr1:160265889 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1943G>A (p.Arg648His) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001943469]|Inborn genetic diseases [RCV004044045] |
Chr1:160298879 [GRCh38]
Chr1:160268669 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1657G>A (p.Val553Ile) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001898705] |
Chr1:160305443 [GRCh38]
Chr1:160275233 [GRCh37]
Chr1:1q23.2 |
likely benign|uncertain significance |
| NM_004371.4(COPA):c.2263+12A>C |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001954270] |
Chr1:160297331 [GRCh38]
Chr1:160267121 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.529G>T (p.Val177Leu) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001936595] |
Chr1:160325620 [GRCh38]
Chr1:160295410 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2909A>G (p.Tyr970Cys) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001875492] |
Chr1:160292535 [GRCh38]
Chr1:160262325 [GRCh37]
Chr1:1q23.2 |
likely benign|uncertain significance |
| NM_004371.4(COPA):c.302T>C (p.Phe101Ser) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002048918] |
Chr1:160335249 [GRCh38]
Chr1:160305039 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NC_000001.10:g.(?_158581054)_(162750036_?)dup |
duplication |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001918952]|not provided [RCV001918953] |
Chr1:158581054..162750036 [GRCh37]
Chr1:1q23.1-23.3 |
uncertain significance|no classifications from unflagged records |
| NM_004371.4(COPA):c.3511G>A (p.Ala1171Thr) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001932193] |
Chr1:160290596 [GRCh38]
Chr1:160260386 [GRCh37]
Chr1:1q23.2 |
likely benign|uncertain significance |
| NM_004371.4(COPA):c.2508C>A (p.Asp836Glu) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002010198] |
Chr1:160294826 [GRCh38]
Chr1:160264616 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2983G>A (p.Gly995Ser) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001940949] |
Chr1:160292176 [GRCh38]
Chr1:160261966 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.293C>T (p.Thr98Ile) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002049579] |
Chr1:160335258 [GRCh38]
Chr1:160305048 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.3421-6C>T |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001867446] |
Chr1:160290692 [GRCh38]
Chr1:160260482 [GRCh37]
Chr1:1q23.2 |
likely benign|uncertain significance |
| NM_004371.4(COPA):c.1942C>T (p.Arg648Cys) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001992579] |
Chr1:160298880 [GRCh38]
Chr1:160268670 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1708G>A (p.Val570Ile) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001982443] |
Chr1:160299224 [GRCh38]
Chr1:160269014 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1054G>A (p.Val352Ile) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002018958] |
Chr1:160311890 [GRCh38]
Chr1:160281680 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2498C>T (p.Ala833Val) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002035757] |
Chr1:160294836 [GRCh38]
Chr1:160264626 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.3148-9C>A |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001904114] |
Chr1:160291938 [GRCh38]
Chr1:160261728 [GRCh37]
Chr1:1q23.2 |
likely benign|uncertain significance |
| NM_004371.4(COPA):c.1978-19_1978-18insGTTA |
insertion |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001883420] |
Chr1:160297763..160297764 [GRCh38]
Chr1:160267553..160267554 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1265C>T (p.Ala422Val) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001952318] |
Chr1:160307200 [GRCh38]
Chr1:160276990 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.3484A>G (p.Met1162Val) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001921001] |
Chr1:160290623 [GRCh38]
Chr1:160260413 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1783A>G (p.Thr595Ala) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001981994]|Inborn genetic diseases [RCV002560743] |
Chr1:160299149 [GRCh38]
Chr1:160268939 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.473C>G (p.Thr158Ser) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001979062] |
Chr1:160332471 [GRCh38]
Chr1:160302261 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2377A>G (p.Lys793Glu) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001876948]|Inborn genetic diseases [RCV004980822] |
Chr1:160295835 [GRCh38]
Chr1:160265625 [GRCh37]
Chr1:1q23.2 |
benign|uncertain significance |
| NM_004371.4(COPA):c.783A>G (p.Gln261=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001957183] |
Chr1:160314049 [GRCh38]
Chr1:160283839 [GRCh37]
Chr1:1q23.2 |
benign|uncertain significance |
| NM_004371.4(COPA):c.3521G>A (p.Arg1174Gln) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001924829] |
Chr1:160290586 [GRCh38]
Chr1:160260376 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1292G>A (p.Arg431Gln) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001955293]|COPA-related disorder [RCV004731207] |
Chr1:160307173 [GRCh38]
Chr1:160276963 [GRCh37]
Chr1:1q23.2 |
likely benign|uncertain significance |
| NM_004371.4(COPA):c.2993C>T (p.Ala998Val) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001921297] |
Chr1:160292166 [GRCh38]
Chr1:160261956 [GRCh37]
Chr1:1q23.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004371.4(COPA):c.1757G>A (p.Arg586His) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002047929] |
Chr1:160299175 [GRCh38]
Chr1:160268965 [GRCh37]
Chr1:1q23.2 |
likely benign|uncertain significance |
| NM_004371.4(COPA):c.2918T>C (p.Leu973Pro) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001994312] |
Chr1:160292526 [GRCh38]
Chr1:160262316 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2791A>G (p.Ile931Val) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001996879]|Inborn genetic diseases [RCV002563501] |
Chr1:160293198 [GRCh38]
Chr1:160262988 [GRCh37]
Chr1:1q23.2 |
benign|uncertain significance |
| NM_004371.4(COPA):c.2177G>A (p.Arg726Lys) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001975436] |
Chr1:160297429 [GRCh38]
Chr1:160267219 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.3653T>C (p.Ile1218Thr) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001904907] |
Chr1:160290179 [GRCh38]
Chr1:160259969 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2393C>T (p.Pro798Leu) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001981864] |
Chr1:160295819 [GRCh38]
Chr1:160265609 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2684C>T (p.Ser895Phe) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002009718] |
Chr1:160293456 [GRCh38]
Chr1:160263246 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2646AGA[2] (p.Glu884del) |
microsatellite |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001936245] |
Chr1:160294506..160294508 [GRCh38]
Chr1:160264296..160264298 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.3458C>T (p.Thr1153Ile) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001974212] |
Chr1:160290649 [GRCh38]
Chr1:160260439 [GRCh37]
Chr1:1q23.2 |
likely benign|uncertain significance |
| NM_004371.4(COPA):c.1301C>T (p.Ser434Leu) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001881650] |
Chr1:160307164 [GRCh38]
Chr1:160276954 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.67T>C (p.Trp23Arg) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001974383] |
Chr1:160340268 [GRCh38]
Chr1:160310058 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.3100C>A (p.Leu1034Ile) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001978016] |
Chr1:160292059 [GRCh38]
Chr1:160261849 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2823+15C>T |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002085574] |
Chr1:160293151 [GRCh38]
Chr1:160262941 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.606+17C>A |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002165074] |
Chr1:160325526 [GRCh38]
Chr1:160295316 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.816T>C (p.Ser272=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002071642]|not provided [RCV003408136] |
Chr1:160314016 [GRCh38]
Chr1:160283806 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.993T>C (p.Asn331=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002167804] |
Chr1:160311951 [GRCh38]
Chr1:160281741 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1219+16G>A |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002084758] |
Chr1:160309085 [GRCh38]
Chr1:160278875 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.873T>C (p.His291=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002125882] |
Chr1:160313137 [GRCh38]
Chr1:160282927 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2043C>T (p.Ala681=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002191075] |
Chr1:160297680 [GRCh38]
Chr1:160267470 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.228+11_228+12insTA |
insertion |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002165762] |
Chr1:160339897..160339898 [GRCh38]
Chr1:160309687..160309688 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.3195C>T (p.Ser1065=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002129586] |
Chr1:160291882 [GRCh38]
Chr1:160261672 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.706+11C>T |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002112656] |
Chr1:160323420 [GRCh38]
Chr1:160293210 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1303-6T>C |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002111980] |
Chr1:160306499 [GRCh38]
Chr1:160276289 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.3027G>A (p.Arg1009=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002148595] |
Chr1:160292132 [GRCh38]
Chr1:160261922 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2950A>C (p.Asn984His) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002073621] |
Chr1:160292494 [GRCh38]
Chr1:160262284 [GRCh37]
Chr1:1q23.2 |
benign |
| NM_004371.4(COPA):c.336C>T (p.Ser112=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002166029] |
Chr1:160333653 [GRCh38]
Chr1:160303443 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.663A>G (p.Val221=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002210231] |
Chr1:160323474 [GRCh38]
Chr1:160293264 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.612C>T (p.His204=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002075614] |
Chr1:160323525 [GRCh38]
Chr1:160293315 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.3495C>G (p.Pro1165=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002186190] |
Chr1:160290612 [GRCh38]
Chr1:160260402 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1077-16C>G |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002190592] |
Chr1:160310274 [GRCh38]
Chr1:160280064 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.497-14T>C |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002128661] |
Chr1:160325666 [GRCh38]
Chr1:160295456 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2476+9C>T |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002210916] |
Chr1:160295727 [GRCh38]
Chr1:160265517 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2263+11G>A |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002089241] |
Chr1:160297332 [GRCh38]
Chr1:160267122 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.312A>G (p.Glu104=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002128997] |
Chr1:160333677 [GRCh38]
Chr1:160303467 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1667+19A>C |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002089395] |
Chr1:160305414 [GRCh38]
Chr1:160275204 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1220-16G>C |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002166060] |
Chr1:160307261 [GRCh38]
Chr1:160277051 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.3421-11C>G |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002192052] |
Chr1:160290697 [GRCh38]
Chr1:160260487 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1977+12A>G |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002207163] |
Chr1:160298833 [GRCh38]
Chr1:160268623 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.99C>T (p.Ile33=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002207180] |
Chr1:160340236 [GRCh38]
Chr1:160310026 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1146A>G (p.Arg382=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002092176] |
Chr1:160309174 [GRCh38]
Chr1:160278964 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.597T>C (p.His199=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002072652] |
Chr1:160325552 [GRCh38]
Chr1:160295342 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1443-11A>G |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002168881]|not provided [RCV004714385] |
Chr1:160305784 [GRCh38]
Chr1:160275574 [GRCh37]
Chr1:1q23.2 |
benign |
| NM_004371.4(COPA):c.3616-20C>G |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002134419] |
Chr1:160290236 [GRCh38]
Chr1:160260026 [GRCh37]
Chr1:1q23.2 |
benign |
| NM_004371.4(COPA):c.155-19T>C |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002211538]|not provided [RCV004711763] |
Chr1:160340001 [GRCh38]
Chr1:160309791 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2754+16C>A |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002134015] |
Chr1:160293370 [GRCh38]
Chr1:160263160 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1467T>A (p.Ser489=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002193621] |
Chr1:160305749 [GRCh38]
Chr1:160275539 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2264-4A>G |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002132823] |
Chr1:160296153 [GRCh38]
Chr1:160265943 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.780C>T (p.Arg260=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002173395] |
Chr1:160314052 [GRCh38]
Chr1:160283842 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2775G>A (p.Gln925=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002095831]|not provided [RCV003408118] |
Chr1:160293214 [GRCh38]
Chr1:160263004 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.390G>A (p.Val130=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002215088] |
Chr1:160332554 [GRCh38]
Chr1:160302344 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2619A>G (p.Gly873=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002107140] |
Chr1:160294541 [GRCh38]
Chr1:160264331 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.229-13T>C |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002173093] |
Chr1:160335335 [GRCh38]
Chr1:160305125 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1219+16G>C |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002110312] |
Chr1:160309085 [GRCh38]
Chr1:160278875 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2961-8C>T |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002117164] |
Chr1:160292206 [GRCh38]
Chr1:160261996 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2960+19T>G |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002150916] |
Chr1:160292465 [GRCh38]
Chr1:160262255 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1662C>T (p.Thr554=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002124307] |
Chr1:160305438 [GRCh38]
Chr1:160275228 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.40+10A>G |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002079546] |
Chr1:160343121 [GRCh38]
Chr1:160312911 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1332C>T (p.Ile444=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002134892] |
Chr1:160306464 [GRCh38]
Chr1:160276254 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.480C>T (p.Arg160=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002097279] |
Chr1:160332464 [GRCh38]
Chr1:160302254 [GRCh37]
Chr1:1q23.2 |
benign|likely benign |
| NM_004371.4(COPA):c.496+8G>T |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002149039] |
Chr1:160332440 [GRCh38]
Chr1:160302230 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2824-10T>C |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002115148] |
Chr1:160292630 [GRCh38]
Chr1:160262420 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.690G>A (p.Lys230=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002149434] |
Chr1:160323447 [GRCh38]
Chr1:160293237 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2476+20A>G |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002131997] |
Chr1:160295716 [GRCh38]
Chr1:160265506 [GRCh37]
Chr1:1q23.2 |
benign |
| NM_004371.4(COPA):c.2586A>G (p.Thr862=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002076484] |
Chr1:160294574 [GRCh38]
Chr1:160264364 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1978-19G>T |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002096207] |
Chr1:160297764 [GRCh38]
Chr1:160267554 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2754+16C>T |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002116511] |
Chr1:160293370 [GRCh38]
Chr1:160263160 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1563A>T (p.Leu521Phe) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002196213]|Inborn genetic diseases [RCV004047155] |
Chr1:160305537 [GRCh38]
Chr1:160275327 [GRCh37]
Chr1:1q23.2 |
likely benign|uncertain significance |
| NM_004371.4(COPA):c.2477-11dup |
duplication |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002215673] |
Chr1:160294867..160294868 [GRCh38]
Chr1:160264657..160264658 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.926-6_926-5insCGA |
insertion |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002215677] |
Chr1:160312023..160312024 [GRCh38]
Chr1:160281813..160281814 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.843-15G>C |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002134671] |
Chr1:160313182 [GRCh38]
Chr1:160282972 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1668-19C>T |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002215584] |
Chr1:160299283 [GRCh38]
Chr1:160269073 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1668-20G>A |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002134779] |
Chr1:160299284 [GRCh38]
Chr1:160269074 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.228+14G>A |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002213485] |
Chr1:160339895 [GRCh38]
Chr1:160309685 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.40+17G>A |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002105222] |
Chr1:160343114 [GRCh38]
Chr1:160312904 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2877C>T (p.Phe959=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002176929] |
Chr1:160292567 [GRCh38]
Chr1:160262357 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.435C>T (p.Pro145=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002117599] |
Chr1:160332509 [GRCh38]
Chr1:160302299 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2566+11T>C |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002103782] |
Chr1:160294757 [GRCh38]
Chr1:160264547 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.3147+14G>C |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002135525] |
Chr1:160291998 [GRCh38]
Chr1:160261788 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1076+7C>T |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002083627] |
Chr1:160311861 [GRCh38]
Chr1:160281651 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2267C>T (p.Ser756Phe) |
single nucleotide variant |
not provided [RCV002221767] |
|
uncertain significance |
| NM_004371.4(COPA):c.3616-20C>T |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002103401] |
Chr1:160290236 [GRCh38]
Chr1:160260026 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.3615+10_3615+11delinsTC |
indel |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002176914] |
Chr1:160290481..160290482 [GRCh38]
Chr1:160260271..160260272 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1938A>G (p.Lys646=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002121317] |
Chr1:160298884 [GRCh38]
Chr1:160268674 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.3420+9A>C |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002163814] |
Chr1:160291326 [GRCh38]
Chr1:160261116 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1076+8G>A |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002098628] |
Chr1:160311860 [GRCh38]
Chr1:160281650 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.41-11A>G |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002177891] |
Chr1:160340305 [GRCh38]
Chr1:160310095 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.3420+11C>T |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002164089] |
Chr1:160291324 [GRCh38]
Chr1:160261114 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.3465C>T (p.Ala1155=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002100913] |
Chr1:160290642 [GRCh38]
Chr1:160260432 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2754+15A>G |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002099231] |
Chr1:160293371 [GRCh38]
Chr1:160263161 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1978-19G>A |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002099248] |
Chr1:160297764 [GRCh38]
Chr1:160267554 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2567-13A>G |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002164526] |
Chr1:160294606 [GRCh38]
Chr1:160264396 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.3435G>A (p.Leu1145=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002144255] |
Chr1:160290672 [GRCh38]
Chr1:160260462 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.228+18T>G |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002218016] |
Chr1:160339891 [GRCh38]
Chr1:160309681 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1302+12C>T |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002201218] |
Chr1:160307151 [GRCh38]
Chr1:160276941 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.309+14G>T |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002220391] |
Chr1:160335228 [GRCh38]
Chr1:160305018 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1077-14A>G |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002122799] |
Chr1:160310272 [GRCh38]
Chr1:160280062 [GRCh37]
Chr1:1q23.2 |
benign |
| NM_004371.4(COPA):c.603A>G (p.Leu201=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002180562] |
Chr1:160325546 [GRCh38]
Chr1:160295336 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2503A>G (p.Ile835Val) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002197995]|Inborn genetic diseases [RCV004045584] |
Chr1:160294831 [GRCh38]
Chr1:160264621 [GRCh37]
Chr1:1q23.2 |
likely benign|uncertain significance |
| NM_004371.4(COPA):c.3420+16T>G |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002182656] |
Chr1:160291319 [GRCh38]
Chr1:160261109 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1992A>C (p.Ala664=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002098277]|not provided [RCV005242169] |
Chr1:160297731 [GRCh38]
Chr1:160267521 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2353-20T>G |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002158271] |
Chr1:160295879 [GRCh38]
Chr1:160265669 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2211A>G (p.Leu737=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002158363] |
Chr1:160297395 [GRCh38]
Chr1:160267185 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1860A>T (p.Leu620=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002183023] |
Chr1:160298962 [GRCh38]
Chr1:160268752 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.707-15C>G |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002118692] |
Chr1:160314140 [GRCh38]
Chr1:160283930 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2301A>G (p.Leu767=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002099202] |
Chr1:160296112 [GRCh38]
Chr1:160265902 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.3195C>G (p.Ser1065=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002155269] |
Chr1:160291882 [GRCh38]
Chr1:160261672 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.842+16G>C |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002118973] |
Chr1:160313974 [GRCh38]
Chr1:160283764 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1407G>A (p.Ala469=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002158827] |
Chr1:160306389 [GRCh38]
Chr1:160276179 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.387-19T>C |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002097777] |
Chr1:160332576 [GRCh38]
Chr1:160302366 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.926-15C>T |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002143034] |
Chr1:160312033 [GRCh38]
Chr1:160281823 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.3420+14C>T |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002216451] |
Chr1:160291321 [GRCh38]
Chr1:160261111 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.706+18A>G |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002123249] |
Chr1:160323413 [GRCh38]
Chr1:160293203 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2031G>C (p.Leu677=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002160035] |
Chr1:160297692 [GRCh38]
Chr1:160267482 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1302+10G>A |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002198420] |
Chr1:160307153 [GRCh38]
Chr1:160276943 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.154+6A>G |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003445145] |
Chr1:160340175 [GRCh38]
Chr1:160309965 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.3421-17C>T |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002124085] |
Chr1:160290703 [GRCh38]
Chr1:160260493 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2208C>G (p.Ala736=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002184228] |
Chr1:160297398 [GRCh38]
Chr1:160267188 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.3006G>A (p.Lys1002=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002200971] |
Chr1:160292153 [GRCh38]
Chr1:160261943 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.3258+12A>G |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002101780] |
Chr1:160291807 [GRCh38]
Chr1:160261597 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2909A>T (p.Tyr970Phe) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003110357]|Inborn genetic diseases [RCV004244492] |
Chr1:160292535 [GRCh38]
Chr1:160262325 [GRCh37]
Chr1:1q23.2 |
benign|uncertain significance |
| NC_000001.10:g.(?_160309679)_(160320060_?)dup |
duplication |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003113456] |
Chr1:160309679..160320060 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2821C>T (p.Arg941Trp) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003116898] |
Chr1:160293168 [GRCh38]
Chr1:160262958 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.537G>A (p.Ser179=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003111947] |
Chr1:160325612 [GRCh38]
Chr1:160295402 [GRCh37]
Chr1:1q23.2 |
benign |
| NM_004371.4(COPA):c.1997A>G (p.Lys666Arg) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003115364]|not provided [RCV004790476] |
Chr1:160297726 [GRCh38]
Chr1:160267516 [GRCh37]
Chr1:1q23.2 |
likely benign|uncertain significance |
| NM_004371.4(COPA):c.1558G>A (p.Ala520Thr) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003115481] |
Chr1:160305542 [GRCh38]
Chr1:160275332 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1270A>G (p.Asn424Asp) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003121667] |
Chr1:160307195 [GRCh38]
Chr1:160276985 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1016G>A (p.Arg339Gln) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005102146]|Inborn genetic diseases [RCV004608336] |
Chr1:160311928 [GRCh38]
Chr1:160281718 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.3171C>A (p.Cys1057Ter) |
single nucleotide variant |
not specified [RCV002247111] |
Chr1:160291906 [GRCh38]
Chr1:160261696 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2677-2A>G |
single nucleotide variant |
not provided [RCV002269458] |
Chr1:160293465 [GRCh38]
Chr1:160263255 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1663A>G (p.Thr555Ala) |
single nucleotide variant |
See cases [RCV004584555] |
Chr1:160305437 [GRCh38]
Chr1:160275227 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.3269A>G (p.Tyr1090Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003304759] |
Chr1:160291486 [GRCh38]
Chr1:160261276 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| GRCh37/hg19 1q23.2-23.3(chr1:159778364-160770515)x3 |
copy number gain |
not provided [RCV002474924] |
Chr1:159778364..160770515 [GRCh37]
Chr1:1q23.2-23.3 |
uncertain significance |
| NM_004371.4(COPA):c.1601C>T (p.Ala534Val) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002771407] |
Chr1:160305499 [GRCh38]
Chr1:160275289 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.3368C>T (p.Thr1123Ile) |
single nucleotide variant |
not provided [RCV002469654] |
Chr1:160291387 [GRCh38]
Chr1:160261177 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.225T>G (p.Ile75Met) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002295197] |
Chr1:160339912 [GRCh38]
Chr1:160309702 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2894G>T (p.Arg965Leu) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002295962] |
Chr1:160292550 [GRCh38]
Chr1:160262340 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2440T>C (p.Ser814Pro) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002297109] |
Chr1:160295772 [GRCh38]
Chr1:160265562 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.3119T>C (p.Val1040Ala) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002301985] |
Chr1:160292040 [GRCh38]
Chr1:160261830 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1814A>G (p.Asn605Ser) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002297412] |
Chr1:160299118 [GRCh38]
Chr1:160268908 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2560G>A (p.Asp854Asn) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002300394] |
Chr1:160294774 [GRCh38]
Chr1:160264564 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2932T>A (p.Ser978Thr) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002304012] |
Chr1:160292512 [GRCh38]
Chr1:160262302 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1213C>A (p.Pro405Thr) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002301544] |
Chr1:160309107 [GRCh38]
Chr1:160278897 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1898_1899delinsCT (p.Gly633Ala) |
indel |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002298025] |
Chr1:160298923..160298924 [GRCh38]
Chr1:160268713..160268714 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.270T>C (p.Leu90=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003073979] |
Chr1:160335281 [GRCh38]
Chr1:160305071 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.706+13G>A |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003075316] |
Chr1:160323418 [GRCh38]
Chr1:160293208 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1547G>A (p.Arg516His) |
single nucleotide variant |
Inborn genetic diseases [RCV002753942] |
Chr1:160305553 [GRCh38]
Chr1:160275343 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.841C>T (p.Arg281Trp) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002614371] |
Chr1:160313991 [GRCh38]
Chr1:160283781 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.766G>T (p.Val256Phe) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002994796] |
Chr1:160314066 [GRCh38]
Chr1:160283856 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1600G>T (p.Ala534Ser) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002842026] |
Chr1:160305500 [GRCh38]
Chr1:160275290 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2686C>T (p.Pro896Ser) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002731408]|COPA-related disorder [RCV004731292] |
Chr1:160293454 [GRCh38]
Chr1:160263244 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2677-9T>C |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003017660] |
Chr1:160293472 [GRCh38]
Chr1:160263262 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2089A>G (p.Thr697Ala) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002842471] |
Chr1:160297634 [GRCh38]
Chr1:160267424 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.3317G>A (p.Arg1106His) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003035051] |
Chr1:160291438 [GRCh38]
Chr1:160261228 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2954G>A (p.Arg985His) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002970598]|Inborn genetic diseases [RCV004068148] |
Chr1:160292490 [GRCh38]
Chr1:160262280 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2264-8C>A |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003015158] |
Chr1:160296157 [GRCh38]
Chr1:160265947 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.817A>G (p.Ile273Val) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003753254]|Inborn genetic diseases [RCV002818359] |
Chr1:160314015 [GRCh38]
Chr1:160283805 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.3292C>T (p.Pro1098Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002751866] |
Chr1:160291463 [GRCh38]
Chr1:160261253 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1830+15T>C |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002686222] |
Chr1:160299087 [GRCh38]
Chr1:160268877 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1443-16T>A |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003033914] |
Chr1:160305789 [GRCh38]
Chr1:160275579 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.3413C>T (p.Ala1138Val) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002613586]|not provided [RCV003409889] |
Chr1:160291342 [GRCh38]
Chr1:160261132 [GRCh37]
Chr1:1q23.2 |
likely benign|uncertain significance |
| NM_004371.4(COPA):c.2241G>C (p.Arg747=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003016185] |
Chr1:160297365 [GRCh38]
Chr1:160267155 [GRCh37]
Chr1:1q23.2 |
benign |
| NM_004371.4(COPA):c.123C>T (p.Cys41=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003076289] |
Chr1:160340212 [GRCh38]
Chr1:160310002 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.3258+11T>C |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003076576] |
Chr1:160291808 [GRCh38]
Chr1:160261598 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.843-13G>A |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002740108] |
Chr1:160313180 [GRCh38]
Chr1:160282970 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2362A>G (p.Ile788Val) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002706527] |
Chr1:160295850 [GRCh38]
Chr1:160265640 [GRCh37]
Chr1:1q23.2 |
benign |
| NM_004371.4(COPA):c.646A>G (p.Thr216Ala) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002937574]|Inborn genetic diseases [RCV002914474] |
Chr1:160323491 [GRCh38]
Chr1:160293281 [GRCh37]
Chr1:1q23.2 |
benign|uncertain significance |
| NM_004371.4(COPA):c.2476+6T>A |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002571972] |
Chr1:160295730 [GRCh38]
Chr1:160265520 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.138G>A (p.Lys46=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002800336] |
Chr1:160340197 [GRCh38]
Chr1:160309987 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2239C>T (p.Arg747Trp) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002640605] |
Chr1:160297367 [GRCh38]
Chr1:160267157 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.787T>C (p.Leu263=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002696253] |
Chr1:160314045 [GRCh38]
Chr1:160283835 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2587G>C (p.Glu863Gln) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002571667] |
Chr1:160294573 [GRCh38]
Chr1:160264363 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1831-17C>A |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002927919] |
Chr1:160299008 [GRCh38]
Chr1:160268798 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.944T>C (p.Ile315Thr) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002914056] |
Chr1:160312000 [GRCh38]
Chr1:160281790 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1674C>A (p.His558Gln) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002690567]|Inborn genetic diseases [RCV002690568] |
Chr1:160299258 [GRCh38]
Chr1:160269048 [GRCh37]
Chr1:1q23.2 |
likely benign|uncertain significance |
| NM_004371.4(COPA):c.918T>C (p.Phe306=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002889727] |
Chr1:160313092 [GRCh38]
Chr1:160282882 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2522G>A (p.Gly841Asp) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003017919] |
Chr1:160294812 [GRCh38]
Chr1:160264602 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1977+10A>G |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002638158] |
Chr1:160298835 [GRCh38]
Chr1:160268625 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.984T>A (p.Val328=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002824112] |
Chr1:160311960 [GRCh38]
Chr1:160281750 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.116G>A (p.Arg39Gln) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002591501] |
Chr1:160340219 [GRCh38]
Chr1:160310009 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.3476A>G (p.Asn1159Ser) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003000153] |
Chr1:160290631 [GRCh38]
Chr1:160260421 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2998G>A (p.Gly1000Ser) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002760707] |
Chr1:160292161 [GRCh38]
Chr1:160261951 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.697C>T (p.Arg233Cys) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003078562] |
Chr1:160323440 [GRCh38]
Chr1:160293230 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.607-16C>T |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002620768] |
Chr1:160323546 [GRCh38]
Chr1:160293336 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1254C>T (p.Ala418=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002795714] |
Chr1:160307211 [GRCh38]
Chr1:160277001 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.707-11T>C |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002637835] |
Chr1:160314136 [GRCh38]
Chr1:160283926 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.804T>G (p.Ser268=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003100439] |
Chr1:160314028 [GRCh38]
Chr1:160283818 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.731C>T (p.Thr244Ile) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002824208] |
Chr1:160314101 [GRCh38]
Chr1:160283891 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1403A>T (p.Asp468Val) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002824755] |
Chr1:160306393 [GRCh38]
Chr1:160276183 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2263+15C>G |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002760761] |
Chr1:160297328 [GRCh38]
Chr1:160267118 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.606+12T>A |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002592051] |
Chr1:160325531 [GRCh38]
Chr1:160295321 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2197T>C (p.Tyr733His) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003038546] |
Chr1:160297409 [GRCh38]
Chr1:160267199 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1255G>A (p.Val419Ile) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002636690]|Inborn genetic diseases [RCV002607034] |
Chr1:160307210 [GRCh38]
Chr1:160277000 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1230G>A (p.Gly410=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002622575] |
Chr1:160307235 [GRCh38]
Chr1:160277025 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2414A>G (p.Asp805Gly) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002780360] |
Chr1:160295798 [GRCh38]
Chr1:160265588 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2168-20G>T |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002790321] |
Chr1:160297458 [GRCh38]
Chr1:160267248 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1182C>T (p.Tyr394=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002932918] |
Chr1:160309138 [GRCh38]
Chr1:160278928 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2263+11G>C |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003025177] |
Chr1:160297332 [GRCh38]
Chr1:160267122 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2773C>G (p.Gln925Glu) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003026232] |
Chr1:160293216 [GRCh38]
Chr1:160263006 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1826A>T (p.Asp609Val) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002915066] |
Chr1:160299106 [GRCh38]
Chr1:160268896 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1975G>C (p.Glu659Gln) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003024108] |
Chr1:160298847 [GRCh38]
Chr1:160268637 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2353-11C>T |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002790613] |
Chr1:160295870 [GRCh38]
Chr1:160265660 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.519_521del (p.Pro174del) |
deletion |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003024762] |
Chr1:160325628..160325630 [GRCh38]
Chr1:160295418..160295420 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2256T>C (p.Cys752=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002891062] |
Chr1:160297350 [GRCh38]
Chr1:160267140 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.3231T>C (p.Thr1077=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002597097] |
Chr1:160291846 [GRCh38]
Chr1:160261636 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2567-10T>G |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003043538] |
Chr1:160294603 [GRCh38]
Chr1:160264393 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.3001C>A (p.Leu1001Met) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003043539] |
Chr1:160292158 [GRCh38]
Chr1:160261948 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.309+18C>T |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002643667] |
Chr1:160335224 [GRCh38]
Chr1:160305014 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1765G>A (p.Val589Ile) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002766283] |
Chr1:160299167 [GRCh38]
Chr1:160268957 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2754+5G>A |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002710715] |
Chr1:160293381 [GRCh38]
Chr1:160263171 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2930C>A (p.Pro977His) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002710908] |
Chr1:160292514 [GRCh38]
Chr1:160262304 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.115C>T (p.Arg39Trp) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003085723] |
Chr1:160340220 [GRCh38]
Chr1:160310010 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.518C>T (p.Ser173Phe) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003024763] |
Chr1:160325631 [GRCh38]
Chr1:160295421 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.3532C>T (p.Arg1178Cys) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002625040] |
Chr1:160290575 [GRCh38]
Chr1:160260365 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1645A>G (p.Ile549Val) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002700356] |
Chr1:160305455 [GRCh38]
Chr1:160275245 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.404A>G (p.Asn135Ser) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002576228] |
Chr1:160332540 [GRCh38]
Chr1:160302330 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2755A>C (p.Ile919Leu) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003023867] |
Chr1:160293234 [GRCh38]
Chr1:160263024 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1219+5G>A |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002623828] |
Chr1:160309096 [GRCh38]
Chr1:160278886 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.3520C>T (p.Arg1174Trp) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002957845] |
Chr1:160290587 [GRCh38]
Chr1:160260377 [GRCh37]
Chr1:1q23.2 |
benign |
| NM_004371.4(COPA):c.3485T>C (p.Met1162Thr) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002574682] |
Chr1:160290622 [GRCh38]
Chr1:160260412 [GRCh37]
Chr1:1q23.2 |
benign |
| NM_004371.4(COPA):c.2168-11A>G |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002918440] |
Chr1:160297449 [GRCh38]
Chr1:160267239 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.3190T>C (p.Leu1064=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002894169] |
Chr1:160291887 [GRCh38]
Chr1:160261677 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1668-5C>A |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002805308] |
Chr1:160299269 [GRCh38]
Chr1:160269059 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.994A>C (p.Met332Leu) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002626622] |
Chr1:160311950 [GRCh38]
Chr1:160281740 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2541G>A (p.Glu847=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002630022] |
Chr1:160294793 [GRCh38]
Chr1:160264583 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.3148-3C>T |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003048045] |
Chr1:160291932 [GRCh38]
Chr1:160261722 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2511T>G (p.Ile837Met) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002632022] |
Chr1:160294823 [GRCh38]
Chr1:160264613 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2353-14C>A |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002628707] |
Chr1:160295873 [GRCh38]
Chr1:160265663 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2755-25_2755-20del |
deletion |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003065347] |
Chr1:160293254..160293259 [GRCh38]
Chr1:160263044..160263049 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.41-11A>T |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003031695] |
Chr1:160340305 [GRCh38]
Chr1:160310095 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2167+13A>G |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002770365] |
Chr1:160297543 [GRCh38]
Chr1:160267333 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2513A>C (p.Asp838Ala) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002939078] |
Chr1:160294821 [GRCh38]
Chr1:160264611 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1077-12A>G |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002576551] |
Chr1:160310270 [GRCh38]
Chr1:160280060 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.3518A>G (p.Tyr1173Cys) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002988774] |
Chr1:160290589 [GRCh38]
Chr1:160260379 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.237T>C (p.Asn79=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002647002] |
Chr1:160335314 [GRCh38]
Chr1:160305104 [GRCh37]
Chr1:1q23.2 |
benign |
| NM_004371.4(COPA):c.3344T>G (p.Leu1115Arg) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002811808] |
Chr1:160291411 [GRCh38]
Chr1:160261201 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.3258+7T>C |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002856641] |
Chr1:160291812 [GRCh38]
Chr1:160261602 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1203C>A (p.Asp401Glu) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002628708] |
Chr1:160309117 [GRCh38]
Chr1:160278907 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2401A>G (p.Ile801Val) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002715410]|Inborn genetic diseases [RCV003273987] |
Chr1:160295811 [GRCh38]
Chr1:160265601 [GRCh37]
Chr1:1q23.2 |
likely benign|uncertain significance |
| NM_004371.4(COPA):c.925+18T>C |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003060199] |
Chr1:160313067 [GRCh38]
Chr1:160282857 [GRCh37]
Chr1:1q23.2 |
benign |
| NM_004371.4(COPA):c.228+17A>G |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002833645] |
Chr1:160339892 [GRCh38]
Chr1:160309682 [GRCh37]
Chr1:1q23.2 |
likely benign|uncertain significance |
| NM_004371.4(COPA):c.2630G>A (p.Gly877Glu) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003089735] |
Chr1:160294530 [GRCh38]
Chr1:160264320 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.228+8G>A |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003087345] |
Chr1:160339901 [GRCh38]
Chr1:160309691 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2935A>T (p.Met979Leu) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002716438] |
Chr1:160292509 [GRCh38]
Chr1:160262299 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2239C>A (p.Arg747=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003010448] |
Chr1:160297367 [GRCh38]
Chr1:160267157 [GRCh37]
Chr1:1q23.2 |
likely benign|uncertain significance |
| NM_004371.4(COPA):c.792C>T (p.Ile264=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002834712] |
Chr1:160314040 [GRCh38]
Chr1:160283830 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1134G>A (p.Leu378=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003031593] |
Chr1:160310201 [GRCh38]
Chr1:160279991 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1977+18A>T |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002856175] |
Chr1:160298827 [GRCh38]
Chr1:160268617 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.41-4dup |
duplication |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002579929] |
Chr1:160340297..160340298 [GRCh38]
Chr1:160310087..160310088 [GRCh37]
Chr1:1q23.2 |
benign |
| NM_004371.4(COPA):c.1356C>T (p.Asn452=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002899490] |
Chr1:160306440 [GRCh38]
Chr1:160276230 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2899C>T (p.Arg967Cys) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002581267] |
Chr1:160292545 [GRCh38]
Chr1:160262335 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2206G>T (p.Ala736Ser) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002714776] |
Chr1:160297400 [GRCh38]
Chr1:160267190 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.3501C>T (p.Asp1167=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002582556] |
Chr1:160290606 [GRCh38]
Chr1:160260396 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1443-17A>G |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003051502] |
Chr1:160305790 [GRCh38]
Chr1:160275580 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2592T>A (p.Gly864=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003067406] |
Chr1:160294568 [GRCh38]
Chr1:160264358 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.3616-12_3616-9del |
microsatellite |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003069381] |
Chr1:160290225..160290228 [GRCh38]
Chr1:160260015..160260018 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2567-5T>C |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003051613] |
Chr1:160294598 [GRCh38]
Chr1:160264388 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2378A>G (p.Lys793Arg) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003070334]|Inborn genetic diseases [RCV003274221] |
Chr1:160295834 [GRCh38]
Chr1:160265624 [GRCh37]
Chr1:1q23.2 |
likely benign|uncertain significance |
| NM_004371.4(COPA):c.2692G>A (p.Ala898Thr) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002583730]|Inborn genetic diseases [RCV004973462] |
Chr1:160293448 [GRCh38]
Chr1:160263238 [GRCh37]
Chr1:1q23.2 |
likely benign|uncertain significance |
| NM_004371.4(COPA):c.2315A>G (p.Glu772Gly) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003052618] |
Chr1:160296098 [GRCh38]
Chr1:160265888 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1668-17G>C |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002588391] |
Chr1:160299281 [GRCh38]
Chr1:160269071 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.497-18C>T |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002582934] |
Chr1:160325670 [GRCh38]
Chr1:160295460 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1414A>G (p.Ile472Val) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002611836] |
Chr1:160306382 [GRCh38]
Chr1:160276172 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.926-5_926-2dup |
duplication |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002635419] |
Chr1:160312019..160312020 [GRCh38]
Chr1:160281809..160281810 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.3080A>G (p.Glu1027Gly) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002609959] |
Chr1:160292079 [GRCh38]
Chr1:160261869 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2676+16A>T |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003070837] |
Chr1:160294468 [GRCh38]
Chr1:160264258 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.3247C>T (p.Arg1083Cys) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV002814268] |
Chr1:160291830 [GRCh38]
Chr1:160261620 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1268G>A (p.Arg423Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003217437] |
Chr1:160307197 [GRCh38]
Chr1:160276987 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1552C>G (p.Leu518Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003214503] |
Chr1:160305548 [GRCh38]
Chr1:160275338 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.199G>A (p.Val67Ile) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005061098]|Inborn genetic diseases [RCV003212208] |
Chr1:160339938 [GRCh38]
Chr1:160309728 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2762G>A (p.Cys921Tyr) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003340708] |
Chr1:160293227 [GRCh38]
Chr1:160263017 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2744G>A (p.Ser915Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003354795] |
Chr1:160293396 [GRCh38]
Chr1:160263186 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1732G>A (p.Val578Ile) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003753271]|not provided [RCV003332870] |
Chr1:160299200 [GRCh38]
Chr1:160268990 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2476+5G>A |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003874866] |
Chr1:160295731 [GRCh38]
Chr1:160265521 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2823+9C>T |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003875418] |
Chr1:160293157 [GRCh38]
Chr1:160262947 [GRCh37]
Chr1:1q23.2 |
likely benign |
| GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1 |
copy number loss |
not provided [RCV003483944] |
Chr1:158001058..162858285 [GRCh37]
Chr1:1q23.1-23.3 |
likely pathogenic |
| NM_004371.4(COPA):c.3615+49A>G |
single nucleotide variant |
not specified [RCV003391191] |
Chr1:160290443 [GRCh38]
Chr1:160260233 [GRCh37]
Chr1:1q23.2 |
benign |
| NM_004371.4(COPA):c.1528+44T>C |
single nucleotide variant |
not specified [RCV003391203] |
Chr1:160305644 [GRCh38]
Chr1:160275434 [GRCh37]
Chr1:1q23.2 |
benign |
| NM_004371.4(COPA):c.310-77T>C |
single nucleotide variant |
not specified [RCV003397166] |
Chr1:160333756 [GRCh38]
Chr1:160303546 [GRCh37]
Chr1:1q23.2 |
benign |
| NM_004371.4(COPA):c.228+35A>C |
single nucleotide variant |
not specified [RCV003391182] |
Chr1:160339874 [GRCh38]
Chr1:160309664 [GRCh37]
Chr1:1q23.2 |
benign |
| NM_004371.4(COPA):c.497-7T>G |
single nucleotide variant |
not provided [RCV003409195] |
Chr1:160325659 [GRCh38]
Chr1:160295449 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.921A>G (p.Ala307=) |
single nucleotide variant |
not provided [RCV003409194] |
Chr1:160313089 [GRCh38]
Chr1:160282879 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2693C>A (p.Ala898Glu) |
single nucleotide variant |
COPA-related disorder [RCV003427984] |
Chr1:160293447 [GRCh38]
Chr1:160263237 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2395G>C (p.Ala799Pro) |
single nucleotide variant |
not provided [RCV003409193] |
Chr1:160295817 [GRCh38]
Chr1:160265607 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.3329A>G (p.Asn1110Ser) |
single nucleotide variant |
COPA-related disorder [RCV003410685] |
Chr1:160291426 [GRCh38]
Chr1:160261216 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2794C>G (p.Leu932Val) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003828366] |
Chr1:160293195 [GRCh38]
Chr1:160262985 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2013G>A (p.Lys671=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003875913] |
Chr1:160297710 [GRCh38]
Chr1:160267500 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1606G>A (p.Asp536Asn) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003879008] |
Chr1:160305494 [GRCh38]
Chr1:160275284 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.3615A>G (p.Thr1205=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003876911] |
Chr1:160290492 [GRCh38]
Chr1:160260282 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2241G>A (p.Arg747=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003829938] |
Chr1:160297365 [GRCh38]
Chr1:160267155 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2919G>C (p.Leu973=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003878519] |
Chr1:160292525 [GRCh38]
Chr1:160262315 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.387-97C>T |
single nucleotide variant |
not specified [RCV003489049] |
Chr1:160332654 [GRCh38]
Chr1:160302444 [GRCh37]
Chr1:1q23.2 |
benign |
| NM_004371.4(COPA):c.1690C>G (p.Leu564Val) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003830123] |
Chr1:160299242 [GRCh38]
Chr1:160269032 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.992A>G (p.Asn331Ser) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003824442] |
Chr1:160311952 [GRCh38]
Chr1:160281742 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.3446A>G (p.Glu1149Gly) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003877221] |
Chr1:160290661 [GRCh38]
Chr1:160260451 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.3671G>A (p.Arg1224His) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003753788] |
Chr1:160290161 [GRCh38]
Chr1:160259951 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1132C>T (p.Leu378=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003753553] |
Chr1:160310203 [GRCh38]
Chr1:160279993 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.3393C>T (p.Leu1131=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003753832] |
Chr1:160291362 [GRCh38]
Chr1:160261152 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1706A>G (p.Tyr569Cys) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003753703] |
Chr1:160299226 [GRCh38]
Chr1:160269016 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2477-17G>C |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003753954] |
Chr1:160294874 [GRCh38]
Chr1:160264664 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.333C>T (p.Ala111=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003754074] |
Chr1:160333656 [GRCh38]
Chr1:160303446 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.926-6C>T |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003752702] |
Chr1:160312024 [GRCh38]
Chr1:160281814 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.3038G>C (p.Cys1013Ser) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV004776311]|Inborn genetic diseases [RCV004437806] |
Chr1:160292121 [GRCh38]
Chr1:160261911 [GRCh37]
Chr1:1q23.2 |
pathogenic|uncertain significance |
| NM_004371.4(COPA):c.3054A>G (p.Thr1018=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003752878] |
Chr1:160292105 [GRCh38]
Chr1:160261895 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2379G>A (p.Lys793=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003752885] |
Chr1:160295833 [GRCh38]
Chr1:160265623 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2168-15T>C |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003754533] |
Chr1:160297453 [GRCh38]
Chr1:160267243 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.3258+6A>G |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003815033] |
Chr1:160291813 [GRCh38]
Chr1:160261603 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.646A>T (p.Thr216Ser) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003754662] |
Chr1:160323491 [GRCh38]
Chr1:160293281 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.3394G>A (p.Gly1132Arg) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003754729] |
Chr1:160291361 [GRCh38]
Chr1:160261151 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.309+6T>C |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003754178] |
Chr1:160335236 [GRCh38]
Chr1:160305026 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.3093C>T (p.Ser1031=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003754666] |
Chr1:160292066 [GRCh38]
Chr1:160261856 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1667+7T>A |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003753317] |
Chr1:160305426 [GRCh38]
Chr1:160275216 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.3196G>A (p.Val1066Met) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003752962] |
Chr1:160291881 [GRCh38]
Chr1:160261671 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2483GAG[1] (p.Gly829del) |
microsatellite |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003753432] |
Chr1:160294846..160294848 [GRCh38]
Chr1:160264636..160264638 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2754G>A (p.Gln918=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003754794] |
Chr1:160293386 [GRCh38]
Chr1:160263176 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.3516A>G (p.Ser1172=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003753589] |
Chr1:160290591 [GRCh38]
Chr1:160260381 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2168-10C>T |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003754405] |
Chr1:160297448 [GRCh38]
Chr1:160267238 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2214C>T (p.Tyr738=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003753323] |
Chr1:160297392 [GRCh38]
Chr1:160267182 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1528G>A (p.Ala510Thr) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003753658] |
Chr1:160305688 [GRCh38]
Chr1:160275478 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1430T>C (p.Val477Ala) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003754457] |
Chr1:160306366 [GRCh38]
Chr1:160276156 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.496+4_496+7dup |
duplication |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003754484] |
Chr1:160332440..160332441 [GRCh38]
Chr1:160302230..160302231 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1040A>G (p.Asn347Ser) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003753423]|not provided [RCV004780601] |
Chr1:160311904 [GRCh38]
Chr1:160281694 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.497-8C>T |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003753747] |
Chr1:160325660 [GRCh38]
Chr1:160295450 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.862C>T (p.Arg288Cys) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003753783] |
Chr1:160313148 [GRCh38]
Chr1:160282938 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1143+10C>A |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003754375] |
Chr1:160310182 [GRCh38]
Chr1:160279972 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1302G>A (p.Ser434=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003752664] |
Chr1:160307163 [GRCh38]
Chr1:160276953 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2486G>A (p.Gly829Glu) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003752782] |
Chr1:160294848 [GRCh38]
Chr1:160264638 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2291C>T (p.Thr764Ile) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003752830] |
Chr1:160296122 [GRCh38]
Chr1:160265912 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1144-14C>T |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003753835] |
Chr1:160309190 [GRCh38]
Chr1:160278980 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1197T>C (p.Asp399=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003754051] |
Chr1:160309123 [GRCh38]
Chr1:160278913 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.3664C>T (p.Gln1222Ter) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003754583] |
Chr1:160290168 [GRCh38]
Chr1:160259958 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.309+5G>A |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003752599] |
Chr1:160335237 [GRCh38]
Chr1:160305027 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2930C>T (p.Pro977Leu) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003754113] |
Chr1:160292514 [GRCh38]
Chr1:160262304 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1704C>A (p.Ile568=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003752825] |
Chr1:160299228 [GRCh38]
Chr1:160269018 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1951C>G (p.Leu651Val) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003752828] |
Chr1:160298871 [GRCh38]
Chr1:160268661 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.916T>C (p.Phe306Leu) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003753313] |
Chr1:160313094 [GRCh38]
Chr1:160282884 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.925+7G>A |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003753813] |
Chr1:160313078 [GRCh38]
Chr1:160282868 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1220-8C>T |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003837620] |
Chr1:160307253 [GRCh38]
Chr1:160277043 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1128A>T (p.Ala376=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003754373] |
Chr1:160310207 [GRCh38]
Chr1:160279997 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.3413C>A (p.Ala1138Asp) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003753877] |
Chr1:160291342 [GRCh38]
Chr1:160261132 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1629T>C (p.Tyr543=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003753896] |
Chr1:160305471 [GRCh38]
Chr1:160275261 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1072C>A (p.Arg358=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003753906] |
Chr1:160311872 [GRCh38]
Chr1:160281662 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.707-6C>A |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003754417] |
Chr1:160314131 [GRCh38]
Chr1:160283921 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1365G>A (p.Glu455=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003754433] |
Chr1:160306431 [GRCh38]
Chr1:160276221 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.540T>C (p.Asp180=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003753909] |
Chr1:160325609 [GRCh38]
Chr1:160295399 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1615G>T (p.Gly539Trp) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003753567] |
Chr1:160305485 [GRCh38]
Chr1:160275275 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1442+8A>G |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003753371] |
Chr1:160306346 [GRCh38]
Chr1:160276136 [GRCh37]
Chr1:1q23.2 |
likely benign|uncertain significance |
| NM_004371.4(COPA):c.3259-11C>T |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003753458] |
Chr1:160291507 [GRCh38]
Chr1:160261297 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.496+15T>G |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003753547] |
Chr1:160332433 [GRCh38]
Chr1:160302223 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1429G>A (p.Val477Ile) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003753585] |
Chr1:160306367 [GRCh38]
Chr1:160276157 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2049G>A (p.Leu683=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003754071] |
Chr1:160297674 [GRCh38]
Chr1:160267464 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1293G>T (p.Arg431=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003754084] |
Chr1:160307172 [GRCh38]
Chr1:160276962 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1079G>A (p.Gly360Asp) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003754116] |
Chr1:160310256 [GRCh38]
Chr1:160280046 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.3402G>A (p.Lys1134=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003754199] |
Chr1:160291353 [GRCh38]
Chr1:160261143 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.3391C>T (p.Leu1131Phe) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003752820] |
Chr1:160291364 [GRCh38]
Chr1:160261154 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1735T>C (p.Tyr579His) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003754507] |
Chr1:160299197 [GRCh38]
Chr1:160268987 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.3147+9G>A |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003754527] |
Chr1:160292003 [GRCh38]
Chr1:160261793 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1857A>T (p.Lys619Asn) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003754773] |
Chr1:160298965 [GRCh38]
Chr1:160268755 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1575T>C (p.His525=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003753014] |
Chr1:160305525 [GRCh38]
Chr1:160275315 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2073A>G (p.Glu691=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003754252] |
Chr1:160297650 [GRCh38]
Chr1:160267440 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2304T>C (p.Asp768=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003752797] |
Chr1:160296109 [GRCh38]
Chr1:160265899 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1031T>A (p.Leu344Gln) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003754763] |
Chr1:160311913 [GRCh38]
Chr1:160281703 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2755-16_2755-13del |
deletion |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003754824] |
Chr1:160293247..160293250 [GRCh38]
Chr1:160263037..160263040 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1221G>A (p.Ala407=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003752970] |
Chr1:160307244 [GRCh38]
Chr1:160277034 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2602G>A (p.Asp868Asn) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003753009] |
Chr1:160294558 [GRCh38]
Chr1:160264348 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.527C>T (p.Ala176Val) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003589063] |
Chr1:160325622 [GRCh38]
Chr1:160295412 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.3376C>T (p.Arg1126Trp) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003589106] |
Chr1:160291379 [GRCh38]
Chr1:160261169 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.842+10T>C |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003863811] |
Chr1:160313980 [GRCh38]
Chr1:160283770 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.295A>G (p.Thr99Ala) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003590196] |
Chr1:160335256 [GRCh38]
Chr1:160305046 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.744T>A (p.His248Gln) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003589928] |
Chr1:160314088 [GRCh38]
Chr1:160283878 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1076+17T>G |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003589998] |
Chr1:160311851 [GRCh38]
Chr1:160281641 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.429C>A (p.Phe143Leu) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003590202] |
Chr1:160332515 [GRCh38]
Chr1:160302305 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.3134_3135del (p.Gln1045fs) |
deletion |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003589172] |
Chr1:160292024..160292025 [GRCh38]
Chr1:160261814..160261815 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1137T>A (p.Leu379=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003589586] |
Chr1:160310198 [GRCh38]
Chr1:160279988 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1222C>T (p.Pro408Ser) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003859346] |
Chr1:160307243 [GRCh38]
Chr1:160277033 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2567-17T>C |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003589550] |
Chr1:160294610 [GRCh38]
Chr1:160264400 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1291C>T (p.Arg431Trp) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003590882] |
Chr1:160307174 [GRCh38]
Chr1:160276964 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.307C>T (p.His103Tyr) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003824118] |
Chr1:160335244 [GRCh38]
Chr1:160305034 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2838A>G (p.Gln946=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003861119] |
Chr1:160292606 [GRCh38]
Chr1:160262396 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1710C>T (p.Val570=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003853106] |
Chr1:160299222 [GRCh38]
Chr1:160269012 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.41-13C>G |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003871155] |
Chr1:160340307 [GRCh38]
Chr1:160310097 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2397A>G (p.Ala799=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003871223] |
Chr1:160295815 [GRCh38]
Chr1:160265605 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2824C>T (p.Leu942Phe) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003588233] |
Chr1:160292620 [GRCh38]
Chr1:160262410 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2598_2600del (p.Asp868del) |
deletion |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003588383] |
Chr1:160294560..160294562 [GRCh38]
Chr1:160264350..160264352 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1413T>C (p.Ser471=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003590370] |
Chr1:160306383 [GRCh38]
Chr1:160276173 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2284G>T (p.Ala762Ser) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003590639] |
Chr1:160296129 [GRCh38]
Chr1:160265919 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2953C>T (p.Arg985Cys) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003871741]|Inborn genetic diseases [RCV004369639] |
Chr1:160292491 [GRCh38]
Chr1:160262281 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.3394G>C (p.Gly1132Arg) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003590704] |
Chr1:160291361 [GRCh38]
Chr1:160261151 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2326G>A (p.Glu776Lys) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003589007] |
Chr1:160296087 [GRCh38]
Chr1:160265877 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2677-24_2677-18del |
microsatellite |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003866776] |
Chr1:160293481..160293487 [GRCh38]
Chr1:160263271..160263277 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.3652A>G (p.Ile1218Val) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003868694] |
Chr1:160290180 [GRCh38]
Chr1:160259970 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.110A>C (p.Asp37Ala) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003590989]|not provided [RCV004775446] |
Chr1:160340225 [GRCh38]
Chr1:160310015 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1437G>A (p.Gln479=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003869130] |
Chr1:160306359 [GRCh38]
Chr1:160276149 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.707-15C>A |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003870615] |
Chr1:160314140 [GRCh38]
Chr1:160283930 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1073G>T (p.Arg358Leu) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003846304] |
Chr1:160311871 [GRCh38]
Chr1:160281661 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2543A>T (p.Asp848Val) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003867078] |
Chr1:160294791 [GRCh38]
Chr1:160264581 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2263+3A>G |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003589452] |
Chr1:160297340 [GRCh38]
Chr1:160267130 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1756C>T (p.Arg586Cys) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003589519] |
Chr1:160299176 [GRCh38]
Chr1:160268966 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.161T>C (p.Val54Ala) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003590178] |
Chr1:160339976 [GRCh38]
Chr1:160309766 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2055G>C (p.Gly685=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003590459] |
Chr1:160297668 [GRCh38]
Chr1:160267458 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.301T>C (p.Phe101Leu) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003867870] |
Chr1:160335250 [GRCh38]
Chr1:160305040 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.166G>A (p.Gly56Ser) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003590788] |
Chr1:160339971 [GRCh38]
Chr1:160309761 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1015C>A (p.Arg339=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003589453] |
Chr1:160311929 [GRCh38]
Chr1:160281719 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.480C>A (p.Arg160=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003591099] |
Chr1:160332464 [GRCh38]
Chr1:160302254 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.154+19del |
deletion |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003862097] |
Chr1:160340162 [GRCh38]
Chr1:160309952 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.3541C>G (p.Pro1181Ala) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003846067] |
Chr1:160290566 [GRCh38]
Chr1:160260356 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2012A>G (p.Lys671Arg) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003853657] |
Chr1:160297711 [GRCh38]
Chr1:160267501 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.497-15_497-13del |
deletion |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003589849] |
Chr1:160325665..160325667 [GRCh38]
Chr1:160295455..160295457 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.3493C>T (p.Pro1165Ser) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003589879] |
Chr1:160290614 [GRCh38]
Chr1:160260404 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.821G>A (p.Arg274Gln) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003588309] |
Chr1:160314011 [GRCh38]
Chr1:160283801 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.3147+11C>G |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003588384] |
Chr1:160292001 [GRCh38]
Chr1:160261791 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2559G>T (p.Leu853Phe) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003858341] |
Chr1:160294775 [GRCh38]
Chr1:160264565 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.387-10T>C |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003858570] |
Chr1:160332567 [GRCh38]
Chr1:160302357 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1076+12T>G |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003588348] |
Chr1:160311856 [GRCh38]
Chr1:160281646 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.3616-8T>C |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003588354] |
Chr1:160290224 [GRCh38]
Chr1:160260014 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2010C>A (p.Asp670Glu) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003588239] |
Chr1:160297713 [GRCh38]
Chr1:160267503 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.607-11C>T |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003590341] |
Chr1:160323541 [GRCh38]
Chr1:160293331 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1611G>C (p.Glu537Asp) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003590525] |
Chr1:160305489 [GRCh38]
Chr1:160275279 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.3420+12T>C |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003590585] |
Chr1:160291323 [GRCh38]
Chr1:160261113 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2375C>T (p.Ala792Val) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003590662] |
Chr1:160295837 [GRCh38]
Chr1:160265627 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.3654_3655del (p.Ile1218fs) |
deletion |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003590707] |
Chr1:160290177..160290178 [GRCh38]
Chr1:160259967..160259968 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.3480T>C (p.Tyr1160=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003866677] |
Chr1:160290627 [GRCh38]
Chr1:160260417 [GRCh37]
Chr1:1q23.2 |
benign |
| NM_004371.4(COPA):c.1030C>T (p.Leu344=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003590710] |
Chr1:160311914 [GRCh38]
Chr1:160281704 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.55C>T (p.Pro19Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004372015] |
Chr1:160340280 [GRCh38]
Chr1:160310070 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1137T>C (p.Leu379=) |
single nucleotide variant |
COPA-related disorder [RCV003924625] |
Chr1:160310198 [GRCh38]
Chr1:160279988 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.23A>G (p.Lys8Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004437805] |
Chr1:160343148 [GRCh38]
Chr1:160312938 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2072A>C (p.Glu691Ala) |
single nucleotide variant |
not provided [RCV004555132] |
Chr1:160297651 [GRCh38]
Chr1:160267441 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.497G>T (p.Gly166Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004372014] |
Chr1:160325652 [GRCh38]
Chr1:160295442 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2477-7_2477-6insA |
insertion |
COPA-related disorder [RCV003966982] |
Chr1:160294863..160294864 [GRCh38]
Chr1:160264653..160264654 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1742T>A (p.Leu581Gln) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV003990540] |
Chr1:160299190 [GRCh38]
Chr1:160268980 [GRCh37]
Chr1:1q23.2 |
likely pathogenic |
| NC_000001.10:g.(?_160261105)_(160261739_?)del |
deletion |
Autoimmune interstitial lung disease-arthritis syndrome [RCV004584131] |
Chr1:160261105..160261739 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.979_980delinsAT (p.Ala327Ile) |
indel |
COPA-related disorder [RCV004732279] |
Chr1:160311964..160311965 [GRCh38]
Chr1:160281754..160281755 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.3392T>G (p.Leu1131Arg) |
single nucleotide variant |
not provided [RCV004778406] |
Chr1:160291363 [GRCh38]
Chr1:160261153 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.3599T>C (p.Ile1200Thr) |
single nucleotide variant |
not provided [RCV004768078] |
Chr1:160290508 [GRCh38]
Chr1:160260298 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1830+8G>C |
single nucleotide variant |
COPA-related disorder [RCV004756614] |
Chr1:160299094 [GRCh38]
Chr1:160268884 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1754G>A (p.Cys585Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV004979037] |
Chr1:160299178 [GRCh38]
Chr1:160268968 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.3079G>A (p.Glu1027Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004979041] |
Chr1:160292080 [GRCh38]
Chr1:160261870 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1541G>A (p.Cys514Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV004979042] |
Chr1:160305559 [GRCh38]
Chr1:160275349 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2701G>A (p.Gly901Arg) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005061681]|Inborn genetic diseases [RCV004979038] |
Chr1:160293439 [GRCh38]
Chr1:160263229 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1264G>A (p.Ala422Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004979039] |
Chr1:160307201 [GRCh38]
Chr1:160276991 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.58A>C (p.Lys20Gln) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005110153]|Inborn genetic diseases [RCV004979040] |
Chr1:160340277 [GRCh38]
Chr1:160310067 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.127C>T (p.Leu43Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV004979043] |
Chr1:160340208 [GRCh38]
Chr1:160309998 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.339T>C (p.Asp113=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005124141] |
Chr1:160333650 [GRCh38]
Chr1:160303440 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2774A>G (p.Gln925Arg) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005140318] |
Chr1:160293215 [GRCh38]
Chr1:160263005 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2368C>T (p.Pro790Ser) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005137808] |
Chr1:160295844 [GRCh38]
Chr1:160265634 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.707-6C>T |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005067944] |
Chr1:160314131 [GRCh38]
Chr1:160283921 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.354A>T (p.Arg118=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005125646] |
Chr1:160333635 [GRCh38]
Chr1:160303425 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1028A>G (p.Gln343Arg) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005141801] |
Chr1:160311916 [GRCh38]
Chr1:160281706 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2752C>G (p.Gln918Glu) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005126702] |
Chr1:160293388 [GRCh38]
Chr1:160263178 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2070G>A (p.Val690=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005060837] |
Chr1:160297653 [GRCh38]
Chr1:160267443 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2322A>C (p.Leu774=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005128334] |
Chr1:160296091 [GRCh38]
Chr1:160265881 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1374T>C (p.Tyr458=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005066135] |
Chr1:160306422 [GRCh38]
Chr1:160276212 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1432C>T (p.Gln478Ter) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005141108] |
Chr1:160306364 [GRCh38]
Chr1:160276154 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1245C>A (p.Gly415=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005134758] |
Chr1:160307220 [GRCh38]
Chr1:160277010 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.8C>T (p.Thr3Ile) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005135147] |
Chr1:160343163 [GRCh38]
Chr1:160312953 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.3254G>T (p.Cys1085Phe) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005131712] |
Chr1:160291823 [GRCh38]
Chr1:160261613 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.723G>T (p.Glu241Asp) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005131311] |
Chr1:160314109 [GRCh38]
Chr1:160283899 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2689G>A (p.Gly897Arg) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005113706] |
Chr1:160293451 [GRCh38]
Chr1:160263241 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.3259-8T>A |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005127809] |
Chr1:160291504 [GRCh38]
Chr1:160261294 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1172A>G (p.Tyr391Cys) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005135571] |
Chr1:160309148 [GRCh38]
Chr1:160278938 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1860A>G (p.Leu620=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005139149] |
Chr1:160298962 [GRCh38]
Chr1:160268752 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.3087C>T (p.Phe1029=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005139209] |
Chr1:160292072 [GRCh38]
Chr1:160261862 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.416T>C (p.Met139Thr) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005136019] |
Chr1:160332528 [GRCh38]
Chr1:160302318 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1607A>G (p.Asp536Gly) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005136121] |
Chr1:160305493 [GRCh38]
Chr1:160275283 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1303-15T>G |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005118243] |
Chr1:160306508 [GRCh38]
Chr1:160276298 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.496+14G>A |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005085740] |
Chr1:160332434 [GRCh38]
Chr1:160302224 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.3420+15T>C |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005115310] |
Chr1:160291320 [GRCh38]
Chr1:160261110 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1443-7_1443-4del |
microsatellite |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005084819] |
Chr1:160305777..160305780 [GRCh38]
Chr1:160275567..160275570 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.72C>A (p.Ile24=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005116404] |
Chr1:160340263 [GRCh38]
Chr1:160310053 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1077-8A>G |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005062487] |
Chr1:160310266 [GRCh38]
Chr1:160280056 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1166G>A (p.Ser389Asn) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005134205] |
Chr1:160309154 [GRCh38]
Chr1:160278944 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.40+11A>G |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005124692] |
Chr1:160343120 [GRCh38]
Chr1:160312910 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.3424C>T (p.Arg1142Ter) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV004776315] |
Chr1:160290683 [GRCh38]
Chr1:160260473 [GRCh37]
Chr1:1q23.2 |
pathogenic |
| NM_004371.4(COPA):c.2087G>A (p.Arg696His) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005088815] |
Chr1:160297636 [GRCh38]
Chr1:160267426 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2755-10T>A |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005128328] |
Chr1:160293244 [GRCh38]
Chr1:160263034 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.3558A>C (p.Pro1186=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005088842] |
Chr1:160290549 [GRCh38]
Chr1:160260339 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.3369C>G (p.Thr1123=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005065769] |
Chr1:160291386 [GRCh38]
Chr1:160261176 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.514C>G (p.Leu172Val) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005116188] |
Chr1:160325635 [GRCh38]
Chr1:160295425 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.3565G>T (p.Gly1189Trp) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005117528] |
Chr1:160290542 [GRCh38]
Chr1:160260332 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2476+11_2476+12delinsGA |
indel |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005129099] |
Chr1:160295724..160295725 [GRCh38]
Chr1:160265514..160265515 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2107C>G (p.Leu703Val) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005120089] |
Chr1:160297616 [GRCh38]
Chr1:160267406 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1284C>G (p.Val428=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005060751] |
Chr1:160307181 [GRCh38]
Chr1:160276971 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.3141dup (p.Ala1048fs) |
duplication |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005132833] |
Chr1:160292017..160292018 [GRCh38]
Chr1:160261807..160261808 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.3420+9A>T |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005132854] |
Chr1:160291326 [GRCh38]
Chr1:160261116 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1667G>C (p.Gly556Ala) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005133399] |
Chr1:160305433 [GRCh38]
Chr1:160275223 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.126T>C (p.Thr42=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005133516] |
Chr1:160340209 [GRCh38]
Chr1:160309999 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1896G>A (p.Lys632=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005156268] |
Chr1:160298926 [GRCh38]
Chr1:160268716 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1533T>A (p.Ile511=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005076766] |
Chr1:160305567 [GRCh38]
Chr1:160275357 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1441C>T (p.Arg481Trp) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005187644] |
Chr1:160306355 [GRCh38]
Chr1:160276145 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1302+13T>C |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005164786] |
Chr1:160307150 [GRCh38]
Chr1:160276940 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1144-16C>G |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005146992] |
Chr1:160309192 [GRCh38]
Chr1:160278982 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.843-4C>T |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005206531] |
Chr1:160313171 [GRCh38]
Chr1:160282961 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.3610A>G (p.Thr1204Ala) |
single nucleotide variant |
not provided [RCV005250901] |
Chr1:160290497 [GRCh38]
Chr1:160260287 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2961-18C>A |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005069629] |
Chr1:160292216 [GRCh38]
Chr1:160262006 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1368C>T (p.Ile456=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005162192] |
Chr1:160306428 [GRCh38]
Chr1:160276218 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2264-17G>A |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005182751] |
Chr1:160296166 [GRCh38]
Chr1:160265956 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.48C>T (p.Ser16=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005183624] |
Chr1:160340287 [GRCh38]
Chr1:160310077 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.606+6T>C |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005149604] |
Chr1:160325537 [GRCh38]
Chr1:160295327 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1076+4A>T |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005150191] |
Chr1:160311864 [GRCh38]
Chr1:160281654 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.578C>T (p.Thr193Ile) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005150571] |
Chr1:160325571 [GRCh38]
Chr1:160295361 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.562G>C (p.Asp188His) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005194457] |
Chr1:160325587 [GRCh38]
Chr1:160295377 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.901C>A (p.Pro301Thr) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005186705] |
Chr1:160313109 [GRCh38]
Chr1:160282899 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.926-7C>T |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005153848] |
Chr1:160312025 [GRCh38]
Chr1:160281815 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1392C>T (p.Leu464=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005203827] |
Chr1:160306404 [GRCh38]
Chr1:160276194 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2754+12G>A |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005189956] |
Chr1:160293374 [GRCh38]
Chr1:160263164 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1535T>C (p.Val512Ala) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005190163] |
Chr1:160305565 [GRCh38]
Chr1:160275355 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.3161T>C (p.Ile1054Thr) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005184569] |
Chr1:160291916 [GRCh38]
Chr1:160261706 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1003T>C (p.Tyr335His) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005081377] |
Chr1:160311941 [GRCh38]
Chr1:160281731 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.3279C>T (p.His1093=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005177075] |
Chr1:160291476 [GRCh38]
Chr1:160261266 [GRCh37]
Chr1:1q23.2 |
benign |
| NM_004371.4(COPA):c.843-5T>C |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005166834] |
Chr1:160313172 [GRCh38]
Chr1:160282962 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2190T>C (p.Ser730=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005079705] |
Chr1:160297416 [GRCh38]
Chr1:160267206 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.3596A>G (p.Gln1199Arg) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005076096] |
Chr1:160290511 [GRCh38]
Chr1:160260301 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1143+13T>C |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005207305] |
Chr1:160310179 [GRCh38]
Chr1:160279969 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1001A>G (p.His334Arg) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005170797] |
Chr1:160311943 [GRCh38]
Chr1:160281733 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1263C>T (p.Val421=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005171285] |
Chr1:160307202 [GRCh38]
Chr1:160276992 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2950A>T (p.Asn984Tyr) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005081561] |
Chr1:160292494 [GRCh38]
Chr1:160262284 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.514C>T (p.Leu172=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005167815] |
Chr1:160325635 [GRCh38]
Chr1:160295425 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2421T>C (p.Asn807=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005182182] |
Chr1:160295791 [GRCh38]
Chr1:160265581 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2558T>C (p.Leu853Ser) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005185603] |
Chr1:160294776 [GRCh38]
Chr1:160264566 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2948C>A (p.Pro983His) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005144841] |
Chr1:160292496 [GRCh38]
Chr1:160262286 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2477-7T>A |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005073981] |
Chr1:160294864 [GRCh38]
Chr1:160264654 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2308G>A (p.Glu770Lys) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005080624] |
Chr1:160296105 [GRCh38]
Chr1:160265895 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1220-17G>C |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005160049] |
Chr1:160307262 [GRCh38]
Chr1:160277052 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.411T>C (p.Tyr137=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005175469] |
Chr1:160332533 [GRCh38]
Chr1:160302323 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1842G>A (p.Met614Ile) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005161144] |
Chr1:160298980 [GRCh38]
Chr1:160268770 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1076+18C>G |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005199974] |
Chr1:160311850 [GRCh38]
Chr1:160281640 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2410T>C (p.Leu804=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005177377] |
Chr1:160295802 [GRCh38]
Chr1:160265592 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.585A>T (p.Ala195=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005192433] |
Chr1:160325564 [GRCh38]
Chr1:160295354 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1274G>A (p.Arg425Gln) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005152177] |
Chr1:160307191 [GRCh38]
Chr1:160276981 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.115C>A (p.Arg39=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005147812] |
Chr1:160340220 [GRCh38]
Chr1:160310010 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2774A>T (p.Gln925Leu) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005148426] |
Chr1:160293215 [GRCh38]
Chr1:160263005 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1134G>C (p.Leu378=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005193553] |
Chr1:160310201 [GRCh38]
Chr1:160279991 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.3147+20G>A |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005156524] |
Chr1:160291992 [GRCh38]
Chr1:160261782 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2112C>T (p.Ser704=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005170725] |
Chr1:160297611 [GRCh38]
Chr1:160267401 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2823+7A>G |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005075561] |
Chr1:160293159 [GRCh38]
Chr1:160262949 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2250G>A (p.Lys750=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005171839] |
Chr1:160297356 [GRCh38]
Chr1:160267146 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.926-17C>T |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005180227] |
Chr1:160312035 [GRCh38]
Chr1:160281825 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2877C>A (p.Phe959Leu) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005194998] |
Chr1:160292567 [GRCh38]
Chr1:160262357 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1001A>T (p.His334Leu) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005194999] |
Chr1:160311943 [GRCh38]
Chr1:160281733 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1665T>G (p.Thr555=) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005157919] |
Chr1:160305435 [GRCh38]
Chr1:160275225 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.1973T>C (p.Ile658Thr) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005158049] |
Chr1:160298849 [GRCh38]
Chr1:160268639 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1076+10A>G |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005144096] |
Chr1:160311858 [GRCh38]
Chr1:160281648 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.2195A>T (p.His732Leu) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005181182] |
Chr1:160297411 [GRCh38]
Chr1:160267201 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2652A>T (p.Glu884Asp) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005188634] |
Chr1:160294508 [GRCh38]
Chr1:160264298 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.3559C>T (p.Leu1187Phe) |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005144835] |
Chr1:160290548 [GRCh38]
Chr1:160260338 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.1303-12T>C |
single nucleotide variant |
Autoimmune interstitial lung disease-arthritis syndrome [RCV005197146] |
Chr1:160306505 [GRCh38]
Chr1:160276295 [GRCh37]
Chr1:1q23.2 |
likely benign |
| NM_004371.4(COPA):c.632C>T (p.Ala211Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004372016] |
Chr1:160323505 [GRCh38]
Chr1:160293295 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.2754+52G>A |
single nucleotide variant |
not specified [RCV003391186] |
Chr1:160293334 [GRCh38]
Chr1:160263124 [GRCh37]
Chr1:1q23.2 |
benign |
| NM_004371.4(COPA):c.2117T>C (p.Leu706Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004437804] |
Chr1:160297606 [GRCh38]
Chr1:160267396 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_004371.4(COPA):c.3277C>T (p.His1093Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV004372013] |
Chr1:160291478 [GRCh38]
Chr1:160261268 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
