Gene Ontology Annotations Click to see Annotation Detail View
Biological Process Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | RNA processing | involved_in | IEA | Rfam:RF00599 | 150520179 | | RNAcentral | GO_REF:0000115 | |
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Gene Ontology Annotations Click to see Annotation Detail View
Biological Process Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | RNA processing | involved_in | IEA | Rfam:RF00599 | 150520179 | | RNAcentral | GO_REF:0000115 | |
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SNORA77B (Homo sapiens - human) |
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Gm25777 (Mus musculus - house mouse) |
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Snora77b (Rattus norvegicus - Norway rat) |
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LOC119866289 (Canis lupus familiaris - dog) |
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Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 22q11.21(chr22:18339130-21109830)x1 | copy number loss | See cases [RCV000140853] | Chr22:18339130..21109830 [GRCh38] Chr22:19035323..21464119 [GRCh37] Chr22:17415323..19794119 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18169870-21559889)x3 | copy number gain | See cases [RCV000051918] | Chr22:18169870..21559889 [GRCh38] Chr22:18652637..21914178 [GRCh37] Chr22:17032637..20244178 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21444466)x3 | copy number gain | See cases [RCV000051939] | Chr22:18339130..21444466 [GRCh38] Chr22:18909038..21798755 [GRCh37] Chr22:17289038..20128755 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21101267)x3 | copy number gain | See cases [RCV000051942] | Chr22:18339130..21101267 [GRCh38] Chr22:18950766..21455556 [GRCh37] Chr22:17330766..19785556 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-20588575)x3 | copy number gain | See cases [RCV000051943] | Chr22:18339130..20588575 [GRCh38] Chr22:19168758..20942862 [GRCh37] Chr22:17519027..19272862 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18157962-21111370)x3 | copy number gain | See cases [RCV000141737] | Chr22:18157962..21111370 [GRCh38] Chr22:18640729..21465659 [GRCh37] Chr22:17020729..19795659 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1 | copy number loss | See cases [RCV000143362] | Chr22:18339130..21111373 [GRCh38] Chr22:18916827..21465662 [GRCh37] Chr22:17296827..19795662 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-20686726)x1 | copy number loss | See cases [RCV000141972] | Chr22:18339130..20686726 [GRCh38] Chr22:18916828..21041014 [GRCh37] Chr22:17296828..19371014 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18161474-21111373)x1 | copy number loss | See cases [RCV000142151] | Chr22:18161474..21111373 [GRCh38] Chr22:18644241..21465662 [GRCh37] Chr22:17024241..19795662 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18389245-21086225)x1 | copy number loss | See cases [RCV000133643] | Chr22:18389245..21086225 [GRCh38] Chr22:20659547..21440514 [GRCh37] Chr22:18989547..19770514 [NCBI36] Chr22:22q11.21 |
uncertain significance |
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20354644)x1 | copy number loss | See cases [RCV000133786] | Chr22:16916608..20354644 [GRCh38] Chr22:17397498..20708934 [GRCh37] Chr22:15777498..19038934 [NCBI36] Chr22:22q11.1-11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 | copy number gain | See cases [RCV000148047] | Chr22:18339130..21207225 [GRCh38] Chr22:18919942..21561514 [GRCh37] Chr22:17299942..19891514 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x3 | copy number gain | See cases [RCV000148102] | Chr22:18339130..21454720 [GRCh38] Chr22:18919942..21809009 [GRCh37] Chr22:17299942..20139009 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18907322-20324261)x3 | copy number gain | See cases [RCV000138026] | Chr22:18907322..20324261 [GRCh38] Chr22:18894835..20311784 [GRCh37] Chr22:17274835..18691784 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-20354644)x3 | copy number gain | See cases [RCV000135512] | Chr22:18339130..20354644 [GRCh38] Chr22:18919942..20708934 [GRCh37] Chr22:17299942..19038934 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18932429-20324240)x3 | copy number gain | See cases [RCV000135733] | Chr22:18932429..20324240 [GRCh38] Chr22:18919942..20311763 [GRCh37] Chr22:17299942..18691763 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21003834)x3 | copy number gain | See cases [RCV000135898] | Chr22:18339130..21003834 [GRCh38] Chr22:18908832..21358123 [GRCh37] Chr22:17288832..19688123 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21109830)x1 | copy number loss | See cases [RCV000138354] | Chr22:18339130..21109830 [GRCh38] Chr22:18706001..21464119 [GRCh37] Chr22:17086001..19794119 [NCBI36] Chr22:22q11.21 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 22q11.21(chr22:18909459-20324240)x1 | copy number loss | See cases [RCV000136832] | Chr22:18909459..20324240 [GRCh38] Chr22:18896972..20311763 [GRCh37] Chr22:17276972..18691763 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18177786-21101267)x3 | copy number gain | See cases [RCV000051276] | Chr22:18177786..21101267 [GRCh38] Chr22:18660553..21455556 [GRCh37] Chr22:17040553..19785556 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18177786-21101267)x1 | copy number loss | See cases [RCV000051278] | Chr22:18177786..21101267 [GRCh38] Chr22:18660553..21455556 [GRCh37] Chr22:17040553..19785556 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18188862-21182552)x1 | copy number loss | See cases [RCV000051286] | Chr22:18188862..21182552 [GRCh38] Chr22:18671629..21536841 [GRCh37] Chr22:17051629..19866841 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21151269)x1 | copy number loss | See cases [RCV000051295] | Chr22:18339130..21151269 [GRCh38] Chr22:18705801..21505558 [GRCh37] Chr22:17085801..19835558 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-20671566)x1 | copy number loss | See cases [RCV000051327] | Chr22:18339130..20671566 [GRCh38] Chr22:18919742..21025854 [GRCh37] Chr22:17299742..19355854 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21151269)x1 | copy number loss | See cases [RCV000051328] | Chr22:18339130..21151269 [GRCh38] Chr22:18919742..21505558 [GRCh37] Chr22:17299742..19835558 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-20671425)x1 | copy number loss | See cases [RCV000050290] | Chr22:18339130..20671425 [GRCh38] Chr22:18706001..21025713 [GRCh37] Chr22:17086001..19355713 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x3 | copy number gain | See cases [RCV000050387] | Chr22:18339130..21151128 [GRCh38] Chr22:18919942..21505417 [GRCh37] Chr22:17299942..19835417 [NCBI36] Chr22:22q11.21 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 | copy number loss | See cases [RCV000050388] | Chr22:18339130..21151128 [GRCh38] Chr22:18919942..21505417 [GRCh37] Chr22:17299942..19835417 [NCBI36] Chr22:22q11.21 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x3 | copy number gain | See cases [RCV000050628] | Chr22:18339130..21454720 [GRCh38] Chr22:18919942..21809009 [GRCh37] Chr22:17299942..20139009 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-20343532)x3 | copy number gain | See cases [RCV000050729] | Chr22:18339130..20343532 [GRCh38] Chr22:18919942..20659606 [GRCh37] Chr22:17299942..18989606 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20324240)x3 | copy number gain | See cases [RCV000050858] | Chr22:16916608..20324240 [GRCh38] Chr22:17397498..20311763 [GRCh37] Chr22:15777498..18691763 [NCBI36] Chr22:22q11.1-11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3 | copy number gain | See cases [RCV000050991] | Chr22:18339130..21086225 [GRCh38] Chr22:18919942..21440514 [GRCh37] Chr22:17299942..19770514 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1 | copy number loss | See cases [RCV000142073] | Chr22:18339130..21111370 [GRCh38] Chr22:19024656..21465659 [GRCh37] Chr22:17404656..19795659 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 | copy number loss | See cases [RCV000050992] | Chr22:18339130..21086225 [GRCh38] Chr22:18919942..21440514 [GRCh37] Chr22:17299942..19770514 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-20343532)x1 | copy number loss | See cases [RCV000142546] | Chr22:18339130..20343532 [GRCh38] Chr22:18919942..20659606 [GRCh37] Chr22:17299942..18989606 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.1-11.21(chr22:16538125-20363937)x1 | copy number loss | See cases [RCV000051270] | Chr22:16538125..20363937 [GRCh38] Chr22:17019015..20718227 [GRCh37] Chr22:15399015..19048227 [NCBI36] Chr22:22q11.1-11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18145052-21086366)x1 | copy number loss | See cases [RCV000051271] | Chr22:18145052..21086366 [GRCh38] Chr22:18627819..21440655 [GRCh37] Chr22:17007819..19770655 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18145252-21151128)x1 | copy number loss | See cases [RCV000051272] | Chr22:18145252..21151128 [GRCh38] Chr22:18628019..21505417 [GRCh37] Chr22:17008019..19835417 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18167908-21101267)x3 | copy number gain | See cases [RCV000051273] | Chr22:18167908..21101267 [GRCh38] Chr22:18650675..21455556 [GRCh37] Chr22:17030675..19785556 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-20343532)x1 | copy number loss | See cases [RCV000051297] | Chr22:18339130..20343532 [GRCh38] Chr22:18706001..20659606 [GRCh37] Chr22:17086001..18989606 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x1 | copy number loss | See cases [RCV000051298] | Chr22:18339130..21454720 [GRCh38] Chr22:18706001..21809009 [GRCh37] Chr22:17086001..20139009 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18886943-20318794)x1 | copy number loss | See cases [RCV000051299] | Chr22:18886943..20318794 [GRCh38] Chr22:18874456..20306317 [GRCh37] Chr22:17254456..18686317 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 | copy number loss | See cases [RCV000051324] | Chr22:18339130..21086225 [GRCh38] Chr22:18896972..21440514 [GRCh37] Chr22:17276972..19770514 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21086366)x1 | copy number loss | See cases [RCV000051325] | Chr22:18339130..21086366 [GRCh38] Chr22:18919742..21440655 [GRCh37] Chr22:17299742..19770655 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1 | copy number loss | See cases [RCV000143225] | Chr22:18339130..21111373 [GRCh38] Chr22:18916842..21465662 [GRCh37] Chr22:17296842..19795662 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1 | copy number loss | See cases [RCV000143442] | Chr22:18339130..21111373 [GRCh38] Chr22:18970561..21465662 [GRCh37] Chr22:17350561..19795662 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x3 | copy number gain | See cases [RCV000143229] | Chr22:18339130..21111370 [GRCh38] Chr22:18916842..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1 | copy number loss | See cases [RCV000143293] | Chr22:18339130..21111370 [GRCh38] Chr22:18876630..21465659 [GRCh37] Chr22:17256630..19795659 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 | copy number gain | See cases [RCV000133646] | Chr22:16916608..50739836 [GRCh38] Chr22:17397498..51178264 [GRCh37] Chr22:15777498..49525130 [NCBI36] Chr22:22q11.1-13.33 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 | copy number gain | See cases [RCV000133880] | Chr22:18339130..21207225 [GRCh38] Chr22:18894835..21561514 [GRCh37] Chr22:17274835..19891514 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 | copy number loss | See cases [RCV000133890] | Chr22:18339130..21151128 [GRCh38] Chr22:18894835..21505417 [GRCh37] Chr22:17274835..19835417 [NCBI36] Chr22:22q11.21 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 | copy number gain | See cases [RCV000134730] | Chr22:16916743..50739785 [GRCh38] Chr22:17397633..51178213 [GRCh37] Chr22:15777633..49525079 [NCBI36] Chr22:22q11.1-13.33 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18145380-21086226)x1 | copy number loss | See cases [RCV000134837] | Chr22:18145380..21086226 [GRCh38] Chr22:18628147..21440515 [GRCh37] Chr22:17008147..19770515 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18178957-21086225)x1 | copy number loss | See cases [RCV000148098] | Chr22:18178957..21086225 [GRCh38] Chr22:18661724..21440514 [GRCh37] Chr22:17041724..19770514 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 | copy number loss | See cases [RCV000148101] | Chr22:18339130..21086225 [GRCh38] Chr22:18706001..21440514 [GRCh37] Chr22:17086001..19770514 [NCBI36] Chr22:22q11.21 |
pathogenic |
Single allele | deletion | 22q11.2 deletion syndrome [RCV003221321] | Chr22:18274663..21110254 [GRCh38] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3 | copy number gain | See cases [RCV000148206] | Chr22:18339130..21086225 [GRCh38] Chr22:18919942..21440514 [GRCh37] Chr22:17299942..19770514 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 | copy number gain | See cases [RCV000135456] | Chr22:18339130..21207225 [GRCh38] Chr22:19058829..21561514 [GRCh37] Chr22:17438829..19891514 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18178957-21086225)x3 | copy number gain | See cases [RCV000135519] | Chr22:18178957..21086225 [GRCh38] Chr22:18661724..21440514 [GRCh37] Chr22:17041724..19770514 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18178957-21307146)x3 | copy number gain | See cases [RCV000136518] | Chr22:18178957..21307146 [GRCh38] Chr22:18661724..21661435 [GRCh37] Chr22:17041724..19991435 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 | copy number loss | See cases [RCV000136527] | Chr22:18339130..21151128 [GRCh38] Chr22:20311704..21505417 [GRCh37] Chr22:18691704..19835417 [NCBI36] Chr22:22q11.21 |
uncertain significance |
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 | copy number loss | See cases [RCV000136677] | Chr22:18339130..21086225 [GRCh38] Chr22:19058829..21440514 [GRCh37] Chr22:17438829..19770514 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21441926)x1 | copy number loss | See cases [RCV000136758] | Chr22:18339130..21441926 [GRCh38] Chr22:18891526..21796215 [GRCh37] Chr22:17271526..20126215 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21107522)x1 | copy number loss | See cases [RCV000138169] | Chr22:18339130..21107522 [GRCh38] Chr22:18894835..21461811 [GRCh37] Chr22:17274835..19791811 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18178957-21109830)x1 | copy number loss | See cases [RCV000138671] | Chr22:18178957..21109830 [GRCh38] Chr22:18661724..21464119 [GRCh37] Chr22:17041724..19794119 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21101210)x1 | copy number loss | See cases [RCV000140773] | Chr22:18339130..21101210 [GRCh38] Chr22:18999803..21455499 [GRCh37] Chr22:17379803..19785499 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18932229-20324381)x3 | copy number gain | See cases [RCV000051941] | Chr22:18932229..20324381 [GRCh38] Chr22:18919742..20311904 [GRCh37] Chr22:17299742..18691904 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18166089-21111373)x1 | copy number loss | See cases [RCV000142253] | Chr22:18166089..21111373 [GRCh38] Chr22:18648856..21465662 [GRCh37] Chr22:17028856..19795662 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-20671425)x1 | copy number loss | See cases [RCV000053003] | Chr22:18339130..20671425 [GRCh38] Chr22:18919942..21025713 [GRCh37] Chr22:17299942..19355713 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18932429-20324240)x1 | copy number loss | See cases [RCV000053004] | Chr22:18932429..20324240 [GRCh38] Chr22:18919942..20311763 [GRCh37] Chr22:17299942..18691763 [NCBI36] Chr22:22q11.21 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 22q11.21(chr22:18950648-20241494)x1 | copy number loss | See cases [RCV000053009] | Chr22:18950648..20241494 [GRCh38] Chr22:18938161..20229017 [GRCh37] Chr22:17318161..18609017 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21101267)x3 | copy number gain | See cases [RCV000053012] | Chr22:18339130..21101267 [GRCh38] Chr22:18938161..21455556 [GRCh37] Chr22:17318161..19785556 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21101267)x1 | copy number loss | See cases [RCV000053015] | Chr22:18339130..21101267 [GRCh38] Chr22:18938161..21455556 [GRCh37] Chr22:17318161..19785556 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21101267)x1 | copy number loss | See cases [RCV000053027] | Chr22:18339130..21101267 [GRCh38] Chr22:18962313..21455556 [GRCh37] Chr22:17342313..19785556 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21107522)x1 | copy number loss | See cases [RCV000053047] | Chr22:18339130..21107522 [GRCh38] Chr22:19035017..21461811 [GRCh37] Chr22:17415017..19791811 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18929329-20325138)x3 | copy number gain | See cases [RCV000143506] | Chr22:18929329..20325138 [GRCh38] Chr22:18916842..20312661 [GRCh37] Chr22:17296842..18692661 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20354644)x3 | copy number gain | See cases [RCV000133785] | Chr22:16916608..20354644 [GRCh38] Chr22:17397498..20708934 [GRCh37] Chr22:15777498..19038934 [NCBI36] Chr22:22q11.1-11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18178932-21151156)x1 | copy number loss | See cases [RCV000134130] | Chr22:18178932..21151156 [GRCh38] Chr22:18661699..21505445 [GRCh37] Chr22:17041699..19835445 [NCBI36] Chr22:22q11.21 |
pathogenic |
NC_000022.11:g.18948676_21110520dup | duplication | Chromosome 22q11.2 microduplication syndrome [RCV003313910] | Chr22:18948676..21110520 [GRCh38] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x1 | copy number loss | See cases [RCV000148160] | Chr22:18339130..21207225 [GRCh38] Chr22:18919942..21561514 [GRCh37] Chr22:17299942..19891514 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18178957-21207225)x1 | copy number loss | See cases [RCV000148186] | Chr22:18178957..21207225 [GRCh38] Chr22:18661724..21561514 [GRCh37] Chr22:17041724..19891514 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18178957-20343532)x1 | copy number loss | See cases [RCV000135619] | Chr22:18178957..20343532 [GRCh38] Chr22:18661724..20659606 [GRCh37] Chr22:17041724..18989606 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18718488-20324240)x1 | copy number loss | See cases [RCV000136577] | Chr22:18718488..20324240 [GRCh38] Chr22:18706001..20311763 [GRCh37] Chr22:17086001..18691763 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x3 | copy number gain | See cases [RCV000138187] | Chr22:18339130..21454720 [GRCh38] Chr22:18894835..21809009 [GRCh37] Chr22:17274835..20139009 [NCBI36] Chr22:22q11.21 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 22q11.21-11.22(chr22:18178932-22562620)x3 | copy number gain | See cases [RCV000139316] | Chr22:18178932..22562620 [GRCh38] Chr22:18661699..22905025 [GRCh37] Chr22:17041699..21235025 [NCBI36] Chr22:22q11.21-11.22 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18178957-21151128)x3 | copy number gain | See cases [RCV000051170] | Chr22:18178957..21151128 [GRCh38] Chr22:18661724..21505417 [GRCh37] Chr22:17041724..19835417 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18929315-20325138)x3 | copy number gain | See cases [RCV000140932] | Chr22:18929315..20325138 [GRCh38] Chr22:18916828..20312661 [GRCh37] Chr22:17296828..18692661 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21056995)x3 | copy number gain | See cases [RCV000051919] | Chr22:18339130..21056995 [GRCh38] Chr22:18704554..21411284 [GRCh37] Chr22:17084554..19741284 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 | copy number gain | See cases [RCV000051944] | Chr22:18339130..21207225 [GRCh38] Chr22:20402633..21561514 [GRCh37] Chr22:18782633..19891514 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x3 | copy number gain | See cases [RCV000051937] | Chr22:18339130..21151128 [GRCh38] Chr22:18890271..21505417 [GRCh37] Chr22:17270271..19835417 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 | copy number gain | See cases [RCV000051938] | Chr22:18339130..21207225 [GRCh38] Chr22:18890271..21561514 [GRCh37] Chr22:17270271..19891514 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3 | copy number gain | See cases [RCV000051940] | Chr22:18339130..21086225 [GRCh38] Chr22:18909038..21440514 [GRCh37] Chr22:17289038..19770514 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-20641963)x1 | copy number loss | See cases [RCV000053025] | Chr22:18339130..20641963 [GRCh38] Chr22:18938161..20996250 [GRCh37] Chr22:17318161..19326250 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 | copy number loss | See cases [RCV000053032] | Chr22:18339130..21151128 [GRCh38] Chr22:19029602..21505417 [GRCh37] Chr22:17409602..19835417 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21450597)x1 | copy number loss | See cases [RCV000141677] | Chr22:18339130..21450597 [GRCh38] Chr22:18916842..21804886 [GRCh37] Chr22:17296842..20134886 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.1-11.23(chr22:16916608-24358936)x3 | copy number gain | See cases [RCV000053104] | Chr22:16916608..24358936 [GRCh38] Chr22:17397498..24754904 [GRCh37] Chr22:15777498..23084904 [NCBI36] Chr22:22q11.1-11.23 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21447315)x3 | copy number gain | See cases [RCV000142641] | Chr22:18339130..21447315 [GRCh38] Chr22:18919942..21801604 [GRCh37] Chr22:17299942..20131604 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21307146)x1 | copy number loss | See cases [RCV000142734] | Chr22:18339130..21307146 [GRCh38] Chr22:18765085..21661435 [GRCh37] Chr22:17145085..19991435 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x3 | copy number gain | See cases [RCV000143391] | Chr22:18339130..21111370 [GRCh38] Chr22:18916828..21465659 [GRCh37] Chr22:17296828..19795659 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x1 | copy number loss | See cases [RCV000133881] | Chr22:18339130..21207225 [GRCh38] Chr22:18894835..21561514 [GRCh37] Chr22:17274835..19891514 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-20343532)x1 | copy number loss | See cases [RCV000133998] | Chr22:18339130..20343532 [GRCh38] Chr22:18894835..20659606 [GRCh37] Chr22:17274835..18989606 [NCBI36] Chr22:22q11.21 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 22q11.21(chr22:18339130-21086226)x3 | copy number gain | See cases [RCV000134084] | Chr22:18339130..21086226 [GRCh38] Chr22:18894820..21440515 [GRCh37] Chr22:17274820..19770515 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21086226)x1 | copy number loss | See cases [RCV000134085] | Chr22:18339130..21086226 [GRCh38] Chr22:18894820..21440515 [GRCh37] Chr22:17274820..19770515 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18178932-21151156)x3 | copy number gain | See cases [RCV000134128] | Chr22:18178932..21151156 [GRCh38] Chr22:18661699..21505445 [GRCh37] Chr22:17041699..19835445 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x3 | copy number gain | See cases [RCV000148103] | Chr22:18339130..21151128 [GRCh38] Chr22:18919942..21505417 [GRCh37] Chr22:17299942..19835417 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 | copy number loss | See cases [RCV000148136] | Chr22:18339130..21086225 [GRCh38] Chr22:18919942..21440514 [GRCh37] Chr22:17299942..19770514 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18932429-20324240)x1 | copy number loss | See cases [RCV000148168] | Chr22:18932429..20324240 [GRCh38] Chr22:18919942..20311763 [GRCh37] Chr22:17299942..18691763 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-20343532)x1 | copy number loss | See cases [RCV000148287] | Chr22:18339130..20343532 [GRCh38] Chr22:18706001..20659606 [GRCh37] Chr22:17086001..18989606 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18178957-21107522)x1 | copy number loss | See cases [RCV000137504] | Chr22:18178957..21107522 [GRCh38] Chr22:18661724..21461811 [GRCh37] Chr22:17041724..19791811 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21109830)x1 | copy number loss | See cases [RCV000137960] | Chr22:18339130..21109830 [GRCh38] Chr22:18894835..21464119 [GRCh37] Chr22:17274835..19794119 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21151156)x3 | copy number gain | See cases [RCV000139000] | Chr22:18339130..21151156 [GRCh38] Chr22:18894820..21505445 [GRCh37] Chr22:17274820..19835445 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20324240)x1 | copy number loss | See cases [RCV000050859] | Chr22:16916608..20324240 [GRCh38] Chr22:17397498..20311763 [GRCh37] Chr22:15777498..18691763 [NCBI36] Chr22:22q11.1-11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18389245-21207225)x1 | copy number loss | See cases [RCV000050893] | Chr22:18389245..21207225 [GRCh38] Chr22:20659547..21561514 [GRCh37] Chr22:18989547..19891514 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18178957-21151128)x1 | copy number loss | See cases [RCV000051171] | Chr22:18178957..21151128 [GRCh38] Chr22:18661724..21505417 [GRCh37] Chr22:17041724..19835417 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18178957-21086225)x1 | copy number loss | See cases [RCV000051283] | Chr22:18178957..21086225 [GRCh38] Chr22:18661724..21440514 [GRCh37] Chr22:17041724..19770514 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21040441)x1 | copy number loss | See cases [RCV000051321] | Chr22:18339130..21040441 [GRCh38] Chr22:18890271..21394730 [GRCh37] Chr22:17270271..19724730 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21-11.23(chr22:18339130-23480799)x1 | copy number loss | See cases [RCV000141233] | Chr22:18339130..23480799 [GRCh38] Chr22:20279766..23822986 [GRCh37] Chr22:18659766..22152986 [NCBI36] Chr22:22q11.21-11.23 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18389245-21109830)x1 | copy number loss | See cases [RCV000142988] | Chr22:18389245..21109830 [GRCh38] Chr22:20659547..21464119 [GRCh37] Chr22:18989547..19794119 [NCBI36] Chr22:22q11.21 |
likely pathogenic|uncertain significance |
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x3 | copy number gain | See cases [RCV000133887] | Chr22:18339130..21151128 [GRCh38] Chr22:18894835..21505417 [GRCh37] Chr22:17274835..19835417 [NCBI36] Chr22:22q11.21 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x4 | copy number gain | See cases [RCV000133889] | Chr22:18339130..21151128 [GRCh38] Chr22:18894835..21505417 [GRCh37] Chr22:17274835..19835417 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-20671425)x1 | copy number loss | See cases [RCV000148086] | Chr22:18339130..20671425 [GRCh38] Chr22:18706001..21025713 [GRCh37] Chr22:17086001..19355713 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 | copy number loss | See cases [RCV000148104] | Chr22:18339130..21151128 [GRCh38] Chr22:18919942..21505417 [GRCh37] Chr22:17299942..19835417 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18168847-21086166)x3 | copy number gain | See cases [RCV000135308] | Chr22:18168847..21086166 [GRCh38] Chr22:18651614..21440455 [GRCh37] Chr22:17031614..19770455 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18178957-21151128)x3 | copy number gain | See cases [RCV000148257] | Chr22:18178957..21151128 [GRCh38] Chr22:18661724..21505417 [GRCh37] Chr22:17041724..19835417 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18145252-21109830)x1 | copy number loss | See cases [RCV000137985] | Chr22:18145252..21109830 [GRCh38] Chr22:18628019..21464119 [GRCh37] Chr22:17008019..19794119 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x1 | copy number loss | See cases [RCV000050273] | Chr22:18339130..21207225 [GRCh38] Chr22:18919942..21561514 [GRCh37] Chr22:17299942..19891514 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18178957-21207225)x1 | copy number loss | See cases [RCV000050360] | Chr22:18178957..21207225 [GRCh38] Chr22:18661724..21561514 [GRCh37] Chr22:17041724..19891514 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.1-11.21(chr22:16916608-21151128)x3 | copy number gain | See cases [RCV000050614] | Chr22:16916608..21151128 [GRCh38] Chr22:17397498..21505417 [GRCh37] Chr22:15777498..19835417 [NCBI36] Chr22:22q11.1-11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x1 | copy number loss | See cases [RCV000050630] | Chr22:18339130..21454720 [GRCh38] Chr22:18919942..21809009 [GRCh37] Chr22:17299942..20139009 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3 | copy number gain | See cases [RCV000051023] | Chr22:18339130..21086225 [GRCh38] Chr22:18706001..21440514 [GRCh37] Chr22:17086001..19770514 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 | copy number loss | See cases [RCV000051024] | Chr22:18339130..21086225 [GRCh38] Chr22:18706001..21440514 [GRCh37] Chr22:17086001..19770514 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18167908-21101267)x1 | copy number loss | See cases [RCV000051275] | Chr22:18167908..21101267 [GRCh38] Chr22:18650675..21455556 [GRCh37] Chr22:17030675..19785556 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18902758-20340590)x1 | copy number loss | See cases [RCV000051300] | Chr22:18902758..20340590 [GRCh38] Chr22:18890271..20328113 [GRCh37] Chr22:17270271..18708113 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21107522)x1 | copy number loss | See cases [RCV000051301] | Chr22:18339130..21107522 [GRCh38] Chr22:18890271..21461811 [GRCh37] Chr22:17270271..19791811 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-20343532)x1 | copy number loss | See cases [RCV000051319] | Chr22:18339130..20343532 [GRCh38] Chr22:18890271..20659606 [GRCh37] Chr22:17270271..18989606 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3 | copy number gain | See cases [RCV000051323] | Chr22:18339130..21086225 [GRCh38] Chr22:18896972..21440514 [GRCh37] Chr22:17276972..19770514 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21111373)x3 | copy number gain | See cases [RCV000139955] | Chr22:18339130..21111373 [GRCh38] Chr22:18916828..21465662 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21207381)x3 | copy number gain | See cases [RCV000051920] | Chr22:18339130..21207381 [GRCh38] Chr22:18705801..21561670 [GRCh37] Chr22:17085801..19891670 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21101267)x1 | copy number loss | See cases [RCV000053029] | Chr22:18339130..21101267 [GRCh38] Chr22:18999803..21455556 [GRCh37] Chr22:17379803..19785556 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21151269)x1 | copy number loss | See cases [RCV000053006] | Chr22:18339130..21151269 [GRCh38] Chr22:18919942..21505558 [GRCh37] Chr22:17299942..19835558 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18178957-21107463)x3 | copy number gain | See cases [RCV000141416] | Chr22:18178957..21107463 [GRCh38] Chr22:18661724..21461752 [GRCh37] Chr22:17041724..19791752 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1 | copy number loss | See cases [RCV000141704] | Chr22:18339130..21111370 [GRCh38] Chr22:18916828..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-20980781)x1 | copy number loss | See cases [RCV000141782] | Chr22:18339130..20980781 [GRCh38] Chr22:20277314..21335070 [GRCh37] Chr22:18657314..19665070 [NCBI36] Chr22:22q11.21 |
uncertain significance |
GRCh38/hg38 22q11.21(chr22:18929329-20325138)x1 | copy number loss | See cases [RCV000141906] | Chr22:18929329..20325138 [GRCh38] Chr22:18916842..20312661 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18929329-20324335)x1 | copy number loss | See cases [RCV000141995] | Chr22:18929329..20324335 [GRCh38] Chr22:18916842..20311858 [GRCh37] Chr22:17296842..18691858 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18389245-21151128)x1 | copy number loss | See cases [RCV000142670] | Chr22:18389245..21151128 [GRCh38] Chr22:20659547..21505417 [GRCh37] Chr22:18989547..19835417 [NCBI36] Chr22:22q11.21 |
uncertain significance |
GRCh38/hg38 22q11.21(chr22:18178957-21454720)x1 | copy number loss | See cases [RCV000142783] | Chr22:18178957..21454720 [GRCh38] Chr22:18661724..21809009 [GRCh37] Chr22:17041724..20139009 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1 | copy number loss | See cases [RCV000143126] | Chr22:18339130..21111373 [GRCh38] Chr22:18916828..21465662 [GRCh37] Chr22:17296828..19795662 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1 | copy number loss | See cases [RCV000143234] | Chr22:18339130..21111370 [GRCh38] Chr22:18916842..21465659 [GRCh37] Chr22:17296842..19795659 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18389245-21086225)x3 | copy number gain | See cases [RCV000133642] | Chr22:18389245..21086225 [GRCh38] Chr22:20659547..21440514 [GRCh37] Chr22:18989547..19770514 [NCBI36] Chr22:22q11.21 |
uncertain significance |
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20343532)x3 | copy number gain | See cases [RCV000133682] | Chr22:16916608..20343532 [GRCh38] Chr22:17397498..20659606 [GRCh37] Chr22:15777498..18989606 [NCBI36] Chr22:22q11.1-11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18907322-20250683)x1 | copy number loss | See cases [RCV000134515] | Chr22:18907322..20250683 [GRCh38] Chr22:18894835..20238206 [GRCh37] Chr22:17274835..18618206 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21107463)x3 | copy number gain | See cases [RCV000134519] | Chr22:18339130..21107463 [GRCh38] Chr22:18894835..21461752 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21107463)x1 | copy number loss | See cases [RCV000134520] | Chr22:18339130..21107463 [GRCh38] Chr22:18894835..21461752 [GRCh37] Chr22:17274835..19791752 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 | copy number loss | See cases [RCV000148100] | Chr22:18339130..21151128 [GRCh38] Chr22:18706001..21505417 [GRCh37] Chr22:17086001..19835417 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18145252-21151128)x1 | copy number loss | See cases [RCV000148178] | Chr22:18145252..21151128 [GRCh38] Chr22:18628019..21505417 [GRCh37] Chr22:17008019..19835417 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21028664)x1 | copy number loss | See cases [RCV000136808] | Chr22:18339130..21028664 [GRCh38] Chr22:18896972..21382953 [GRCh37] Chr22:17276972..19712953 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18389245-21454720)x3 | copy number gain | See cases [RCV000137927] | Chr22:18389245..21454720 [GRCh38] Chr22:20659547..21809009 [GRCh37] Chr22:18989547..20139009 [NCBI36] Chr22:22q11.21 |
uncertain significance |
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 | copy number gain | See cases [RCV000050271] | Chr22:18339130..21207225 [GRCh38] Chr22:18919942..21561514 [GRCh37] Chr22:17299942..19891514 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 | copy number loss | See cases [RCV000050550] | Chr22:18339130..21151128 [GRCh38] Chr22:18706001..21505417 [GRCh37] Chr22:17086001..19835417 [NCBI36] Chr22:22q11.21 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3 | copy number gain | See cases [RCV000050768] | Chr22:18178957..31821193 [GRCh38] Chr22:18661724..32217179 [GRCh37] Chr22:17041724..30547179 [NCBI36] Chr22:22q11.21-12.3 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-20354644)x1 | copy number loss | See cases [RCV000051035] | Chr22:18339130..20354644 [GRCh38] Chr22:18919942..20708934 [GRCh37] Chr22:17299942..19038934 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18178957-20324240)x3 | copy number gain | See cases [RCV000051158] | Chr22:18178957..20324240 [GRCh38] Chr22:18661724..20311763 [GRCh37] Chr22:17041724..18691763 [NCBI36] Chr22:22q11.21 |
pathogenic |
NC_000022.11:g.(?_18159879)_(21362822_?)del | deletion | Schizophrenia [RCV000754240] | Chr22:18159879..21362822 [GRCh38] Chr22:22q11.21 |
pathogenic |
NC_000022.11:g.(?_18159879)_(21387988_?)del | deletion | Schizophrenia [RCV000754241] | Chr22:18159879..21387988 [GRCh38] Chr22:22q11.21 |
pathogenic |
NC_000022.11:g.(?_18163926)_(21277123_?)del | deletion | Schizophrenia [RCV000754242] | Chr22:18163926..21277123 [GRCh38] Chr22:22q11.21 |
pathogenic |
NC_000022.11:g.(?_18802709)_(21343709_?)del | deletion | Schizophrenia [RCV000754243] | Chr22:18802709..21343709 [GRCh38] Chr22:22q11.21 |
pathogenic |
NC_000022.11:g.(?_18832909)_(21123588_?)del | deletion | Schizophrenia [RCV000754244] | Chr22:18832909..21123588 [GRCh38] Chr22:22q11.21 |
pathogenic |
NC_000022.11:g.(?_18880919)_(20346734_?)del | deletion | Schizophrenia [RCV000754246] | Chr22:18880919..20346734 [GRCh38] Chr22:22q11.21 |
pathogenic |
NC_000022.11:g.(?_18880919)_(21123588_?)del | deletion | Schizophrenia [RCV000754247] | Chr22:18880919..21123588 [GRCh38] Chr22:22q11.21 |
pathogenic |
Single allele | duplication | Autism [RCV000754248] | Chr22:18904453..20324329 [GRCh38] Chr22:22q11.21 |
pathogenic |
Single allele | duplication | Autism [RCV000754249] | Chr22:18904453..21277123 [GRCh38] Chr22:22q11.21 |
pathogenic |
Single allele | duplication | Autism [RCV000754250] | Chr22:19295635..21510330 [GRCh38] Chr22:22q11.21 |
pathogenic |
NC_000022.11:g.(?_18846939)_(21221413_?)del | deletion | Schizophrenia [RCV000754245] | Chr22:18846939..21221413 [GRCh38] Chr22:22q11.21 |
pathogenic |
Single allele | deletion | Chromosome 22q11.2 deletion syndrome, distal [RCV003232577] | Chr22:18985739..21081116 [GRCh38] Chr22:22q11.21 |
pathogenic |
Single allele | duplication | Chromosome 22q11.2 microduplication syndrome [RCV003232578] | Chr22:18985739..21081116 [GRCh38] Chr22:22q11.21 |
pathogenic |
NC_000022.11:g.18948676_21110520del | deletion | Velocardiofacial syndrome [RCV003318485] | Chr22:18948676..21110520 [GRCh38] Chr22:22q11.21 |
pathogenic |
Single allele | deletion | Velocardiofacial syndrome [RCV002247726] | Chr22:18948677..21110520 [GRCh38] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18985739-21081116)x1 | copy number loss | DiGeorge syndrome [RCV003327705] | Chr22:18985739..21081116 [GRCh38] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18856290-21070117)x3 | copy number gain | Microcephaly-digital anomalies-intellectual disability syndrome [RCV003444168] | Chr22:18856290..21070117 [GRCh38] Chr22:22q11.21 |
pathogenic |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
RefSeq Acc Id: | ENST00000578179 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NR_145765 | ||||||||||||
RefSeq Status: | PROVISIONAL | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
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Sequence: |
Database | Acc Id | Source(s) |
COSMIC | SNORA77B | COSMIC |
Ensembl Genes | ENSG00000264346 | Ensembl, ENTREZGENE |
Ensembl Transcript | ENST00000578179 | ENTREZGENE |
GTEx | ENSG00000264346 | GTEx |
HGNC ID | HGNC:52221 | ENTREZGENE |
Human Proteome Map | SNORA77B | Human Proteome Map |
NCBI Gene | SNORA77B | ENTREZGENE |
RNAcentral | URS00006FB8B0 | RNACentral |