GRCh37/hg19 22q11.21(chr22:18915347-21463730)x1 |
copy number loss |
VATER association [RCV000520380] |
Chr22:18915347..21463730 [GRCh37] Chr22:22q11.21 |
likely pathogenic |
NC_000022.10:g.(?_18910310)_(19770565_?)del |
deletion |
DiGeorge syndrome [RCV000630488] |
Chr22:18910310..19770565 [GRCh37] Chr22:22q11.21 |
pathogenic |
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(chr22:18339130-21207225)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(chr22:18339130-20671425)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(chr22:18339130-21086225)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(chr22:18339130-21086225)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 22q11.1-11.21(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 22q11.1-11.21(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 22q11.21-12.3(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(chr22:18339130-21151128)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 22q11.1-11.21(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(chr22:18339130-20343532)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050729]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050729]|See cases [RCV000050729] |
Chr22:18339130..20343532 [GRCh38] Chr22:18919942..20659606 [GRCh37] Chr22:22q11.21 |
pathogenic |
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(chr22:18339130-21151128)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)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050630]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050630]|See cases [RCV000050630] |
Chr22:18339130..21454720 [GRCh38] Chr22:18919942..21809009 [GRCh37] 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(chr22:16538125-20363937)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(chr22:18167908-21101267)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(chr22:18177786-21101267)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(chr22:18178957-21086225)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(chr22:18188862-21182552)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(chr22:18339130-21086366)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051296]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051296]|See cases [RCV000051296] |
Chr22:18339130..21086366 [GRCh38] Chr22:18705801..21440655 [GRCh37] Chr22:17085801..19770655 [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(chr22:18902758-20340590)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(chr22:18339130-21040441)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(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(chr22:18339130-21086225)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(chr22:18339130-20671566)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(chr22:18339130-21086225)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051023]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051023]|See cases [RCV000051023] |
Chr22:18339130..21086225 [GRCh38] Chr22:18706001..21440514 [GRCh37] 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(chr22:18339130-20354644)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051035]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051035]|See cases [RCV000051035] |
Chr22:18339130..20354644 [GRCh38] Chr22:18919942..20708934 [GRCh37] 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 |
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(chr22:18178957-21151128)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(chr22:18169870-21559889)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(chr22:18339130-21101267)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(chr22:18339130-21056995)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(chr22:18339130-21207381)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(chr22:18339130-21151128)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(chr22:18339130-21444466)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(chr22:18339130-21086225)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(chr22:18932229-20324381)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 22q11.1-11.21(chr22:16916608-20343532)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053103]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053103]|See cases [RCV000053103] |
Chr22:16916608..20343532 [GRCh38] Chr22:17397498..20402677 [GRCh37] Chr22:15777498..18782677 [NCBI36] Chr22:22q11.1-11.21 |
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(chr22:18339130-21107522)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(chr22:18339130-20671425)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(chr22:18339130-21101267)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(chr22:18339130-20641963)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(chr22:18339130-21101267)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(chr22:18339130-21101267)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(chr22:18339130-21151128)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(chr22:18339130-21151269)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(chr22:18950648-20241494)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 |
NM_005137.2(DGCR2):c.1245T>G (p.Leu415=) |
single nucleotide variant |
Malignant melanoma [RCV000072887] |
Chr22:19041209 [GRCh38] Chr22:19028722 [GRCh37] Chr22:17408722 [NCBI36] Chr22:22q11.21 |
not provided |
NM_005137.2(DGCR2):c.319C>T (p.Arg107Cys) |
single nucleotide variant |
Malignant melanoma [RCV000072888] |
Chr22:19068109 [GRCh38] Chr22:19055622 [GRCh37] Chr22:17435622 [NCBI36] Chr22:22q11.21 |
not provided |
GRCh37/hg19 22q11.21(chr22:18886915-21811991)x1 |
copy number loss |
See cases [RCV000663399] |
Chr22:18886915..21811991 [GRCh37] 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 22q11.21(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 22q11.1-13.33(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(chr22:18339130-20354644)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(chr22:18339130-21086225)x3 |
copy number gain |
See cases [RCV000051023] |
Chr22:18339130..21086225 [GRCh38] Chr22:18706001..21440514 [GRCh37] Chr22:17086001..19770514 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18894835-21464119) |
copy number gain |
Global developmental delay [RCV001291954] |
Chr22:18894835..21464119 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18628019-20311763) |
copy number gain |
Motor delay [RCV001291948] |
Chr22:18628019..20311763 [GRCh37] Chr22:22q11.21 |
pathogenic |
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(chr22:18339130-21151128)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 22q11.21(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(chr22:18339130-21207225)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(chr22:18339130-21151128)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(chr22:18339130-21454720)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(chr22:18339130-20343532)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(chr22:16916608-20354644)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 22q11.1-11.21(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 22q11.1-11.21(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 22q11.1-13.33(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(chr22:18907322-20250683)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(chr22:18339130-20343532)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 22q11.1-11.21(chr22:16916743-19597367)x3 |
copy number gain |
See cases [RCV000134065] |
Chr22:16916743..19597367 [GRCh38] Chr22:17397633..19584890 [GRCh37] Chr22:15777633..17964890 [NCBI36] Chr22:22q11.1-11.21 |
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(chr22:18178932-21151156)x1 |
copy number loss |
See cases [RCV000134130] |
Chr22:18178932..21151156 [GRCh38] Chr22:18661699..21505445 [GRCh37] Chr22:17041699..19835445 [NCBI36] Chr22:22q11.21 |
pathogenic |
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(chr22:18168847-21086166)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(chr22:18145380-21086226)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(chr22:18932429-20324240)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(chr22:18339130-20354644)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(chr22:18178957-20343532)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(chr22:18178957-21086225)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(chr22:18339130-21207225)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(chr22:18178957-21307146)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(chr22:18718488-20324240)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(chr22:18339130-21151128)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(chr22:18339130-21003834)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(chr22:18087546-19196905)x3 |
copy number gain |
See cases [RCV000136884] |
Chr22:18087546..19196905 [GRCh38] Chr22:18570312..19184416 [GRCh37] Chr22:16950312..17564416 [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(chr22:18339130-21086225)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(chr22:18909459-20324240)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(chr22:18339130-21441926)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(chr22:18178957-21107522)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(chr22:18339130-21454720)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(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(chr22:18145252-21109830)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(chr22:18339130-21107522)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(chr22:18389245-21454720)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(chr22:18339130-21109830)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(chr22:18996947-19643820)x3 |
copy number gain |
See cases [RCV000137799] |
Chr22:18996947..19643820 [GRCh38] Chr22:18984460..19631343 [GRCh37] Chr22:17364460..18011343 [NCBI36] Chr22:22q11.21 |
uncertain significance |
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(chr22:18339130-21109830)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 22q11.21-11.22(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(chr22:18339130-21151156)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 22q11.21(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(chr22:18907322-19380404)x3 |
copy number gain |
See cases [RCV000141325] |
Chr22:18907322..19380404 [GRCh38] Chr22:18894835..19367927 [GRCh37] Chr22:17274835..17747927 [NCBI36] Chr22:22q11.21 |
uncertain significance |
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 22q11.21-11.23(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(chr22:18929315-20325138)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(chr22:18339130-21109830)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(chr22:18339130-21101210)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(chr22:18929329-20324335)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(chr22:18929329-20325138)x1 |
copy number loss |
See cases [RCV000141906] |
Chr22:18929329..20325138 [GRCh38] Chr22:18916842..20312661 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-20686726)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(chr22:18339130-21111370)x1 |
copy number loss |
See cases [RCV000141704] |
Chr22:18339130..21111370 [GRCh38] Chr22:18916828..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18157962-21111370)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(chr22:18339130-20980781)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(chr22:18339130-21450597)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 22q11.21(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(chr22:18339130-21111370)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(chr22:18161474-21111373)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(chr22:18389245-21109830)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(chr22:18339130-20343532)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 22q11.21(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(chr22:18339130-21307146)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(chr22:18339130-21447315)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(chr22:18339130-21111373)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(chr22:18339130-21111370)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(chr22:18339130-21111373)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(chr22:18339130-21111373)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(chr22:18339130-21111370)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 22q11.21(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 [RCV000143234] |
Chr22:18339130..21111370 [GRCh38] Chr22:18916842..21465659 [GRCh37] Chr22:17296842..19795659 [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(chr22:18339130-20671425)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(chr22:18339130-21207225)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(chr22:18929329-20325138)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 22q11.21(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(chr22:18178957-21151128)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(chr22:18339130-21151128)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(chr22:18339130-21151128)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(chr22:18339130-21086225)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)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(chr22:18932429-20324240)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(chr22:18339130-21086225)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(chr22:18178957-21151128)x1 |
copy number loss |
See cases [RCV000148140] |
Chr22:18178957..21151128 [GRCh38] Chr22:18661724..21505417 [GRCh37] Chr22:17041724..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(chr22:18178957-21207225)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(chr22:18178957-21086225)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(chr22:18339130-21151128)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(chr22:18339130-21086225)x1 |
copy number loss |
See cases [RCV000148101] |
Chr22:18339130..21086225 [GRCh38] Chr22:18706001..21440514 [GRCh37] Chr22:17086001..19770514 [NCBI36] Chr22:22q11.21 |
pathogenic |
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(chr22:18389245-21207225)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(chr22:18339130-20588575)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(chr22:18339130-21207225)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)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053048]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053048]|See cases [RCV000053048] |
Chr22:18339130..21151128 [GRCh38] Chr22:19358153..21505417 [GRCh37] Chr22:17738153..19835417 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18894339-21440514)x1 |
copy number loss |
See cases [RCV000240142] |
Chr22:18894339..21440514 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18894339-21032422)x3 |
copy number gain |
See cases [RCV000240118] |
Chr22:18894339..21032422 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18900442-21440514)x1 |
copy number loss |
See cases [RCV000240087] |
Chr22:18900442..21440514 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18894339-20255154)x1 |
copy number loss |
See cases [RCV000240154] |
Chr22:18894339..20255154 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.1-11.21(chr22:17012935-21431054)x4 |
copy number gain |
See cases [RCV000258792] |
Chr22:17012935..21431054 [GRCh37] Chr22:22q11.1-11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18919579-21460595)x1 |
copy number loss |
See cases [RCV000258811] |
Chr22:18919579..21460595 [GRCh37] Chr22:22q11.21 |
pathogenic|likely pathogenic |
GRCh37/hg19 22q11.21(chr22:18886915-20278471)x3 |
copy number gain |
See cases [RCV000515585] |
Chr22:18886915..20278471 [GRCh37] Chr22:22q11.21 |
pathogenic |
Single allele |
duplication |
Autism spectrum disorder [RCV000225609] |
Chr22:18874965..21028946 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18892575-19026403)x3 |
copy number gain |
Premature ovarian failure [RCV000225288] |
Chr22:18892575..19026403 [GRCh37] Chr22:22q11.21 |
benign |
GRCh37/hg19 22q11.21-12.1(chr22:18738296-25914592)x1 |
copy number loss |
Premature ovarian failure [RCV000225330] |
Chr22:18738296..25914592 [GRCh37] Chr22:22q11.21-12.1 |
benign |
GRCh37/hg19 22q11.21(chr22:18894835-21440514)x1 |
copy number loss |
See cases [RCV000239867] |
Chr22:18894835..21440514 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18844632-21463730)x1 |
copy number loss |
See cases [RCV000239417] |
Chr22:18844632..21463730 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18661724-21025713)x3 |
copy number gain |
See cases [RCV000239914] |
Chr22:18661724..21025713 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 |
copy number gain |
See cases [RCV000240091] |
Chr22:16054691..51237518 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18650664-21440514)x3 |
copy number gain |
See cases [RCV000240570] |
Chr22:18650664..21440514 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.1-12.1(chr22:16054691-27296513)x3 |
copy number gain |
See cases [RCV000240348] |
Chr22:16054691..27296513 [GRCh37] Chr22:22q11.1-12.1 |
pathogenic |
GRCh37/hg19 22q11.1-11.22(chr22:17264511-23238029)x3 |
copy number gain |
See cases [RCV000240483] |
Chr22:17264511..23238029 [GRCh37] Chr22:22q11.1-11.22 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:19023801-21440514)x1 |
copy number loss |
See cases [RCV000240303] |
Chr22:19023801..21440514 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18894835-20311763) |
copy number loss |
Astigmatism [RCV000626527] |
Chr22:18894835..20311763 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18900000-20500000) |
copy number gain |
Hypertelorism [RCV000626526] |
Chr22:18900000..20500000 [GRCh37] Chr22:22q11.21 |
uncertain significance |
Single allele |
deletion |
22q11.2 deletion syndrome [RCV003221321] |
Chr22:18274663..21110254 [GRCh38] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18640729-21465659)x3 |
copy number gain |
See cases [RCV000449438] |
Chr22:18640729..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916842-21800471)x1 |
copy number loss |
See cases [RCV000449444] |
Chr22:18916842..21800471 [GRCh37] Chr22:22q11.21 |
pathogenic |
NC_000022.10:g.(?_18900668)_(19770565_?)del |
deletion |
DiGeorge syndrome [RCV000531380] |
Chr22:18900668..19770565 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:19024656-21798907)x1 |
copy number loss |
See cases [RCV000449418] |
Chr22:19024656..21798907 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916842-20716903)x4 |
copy number gain |
See cases [RCV000449232] |
Chr22:18916842..20716903 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916842-21465661)x1 |
copy number loss |
See cases [RCV000446325] |
Chr22:18916842..21465661 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916842-20716903)x1 |
copy number loss |
See cases [RCV000446341] |
Chr22:18916842..20716903 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18970561-21465659)x3 |
copy number gain |
See cases [RCV000446476] |
Chr22:18970561..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18917047-21465659)x1 |
copy number loss |
See cases [RCV000446495] |
Chr22:18917047..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18644790-21465659)x3 |
copy number gain |
See cases [RCV000447318] |
Chr22:18644790..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18894339-21440455)x3 |
copy number gain |
See cases [RCV000446626] |
Chr22:18894339..21440455 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18648866-21465662)x1 |
copy number loss |
See cases [RCV000446673] |
Chr22:18648866..21465662 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916842-21800797)x1 |
copy number loss |
See cases [RCV000446918] |
Chr22:18916842..21800797 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18644790-21915509)x1 |
copy number loss |
See cases [RCV000447211] |
Chr22:18644790..21915509 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916842-21465659)x1 |
copy number loss |
See cases [RCV000446125] |
Chr22:18916842..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:19024656-21465659)x3 |
copy number gain |
See cases [RCV000446638] |
Chr22:19024656..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic|likely pathogenic |
GRCh37/hg19 22q11.21(chr22:19023801-21440455)x1 |
copy number loss |
See cases [RCV000446681] |
Chr22:19023801..21440455 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18890042-21440455)x1 |
copy number loss |
See cases [RCV000446730] |
Chr22:18890042..21440455 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:19024792-21465659)x3 |
copy number gain |
See cases [RCV000446402] |
Chr22:19024792..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18937381-21465659)x3 |
copy number gain |
See cases [RCV000447496] |
Chr22:18937381..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916842-20312661)x3 |
copy number gain |
See cases [RCV000446449] |
Chr22:18916842..20312661 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18636748-21465659)x3 |
copy number gain |
See cases [RCV000447019] |
Chr22:18636748..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916842-21465662)x1 |
copy number loss |
See cases [RCV000447026] |
Chr22:18916842..21465662 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18644772-21041014)x3 |
copy number gain |
See cases [RCV000446741] |
Chr22:18644772..21041014 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18644790-21800471)x1 |
copy number loss |
See cases [RCV000446545] |
Chr22:18644790..21800471 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18648866-21798907)x1 |
copy number loss |
See cases [RCV000447063] |
Chr22:18648866..21798907 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18650664-21440455)x1 |
copy number loss |
See cases [RCV000446173] |
Chr22:18650664..21440455 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.1-11.21(chr22:16888899-20000830)x1 |
copy number loss |
See cases [RCV000446695] |
Chr22:16888899..20000830 [GRCh37] Chr22:22q11.1-11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18648866-21465659)x1 |
copy number loss |
See cases [RCV000446944] |
Chr22:18648866..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18645353-21465662)x1 |
copy number loss |
See cases [RCV000447176] |
Chr22:18645353..21465662 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18644790-21798907)x1 |
copy number loss |
See cases [RCV000447508] |
Chr22:18644790..21798907 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.1-11.21(chr22:16888899-20311858)x3 |
copy number gain |
See cases [RCV000446787] |
Chr22:16888899..20311858 [GRCh37] Chr22:22q11.1-11.21 |
pathogenic |
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 |
copy number gain |
See cases [RCV000446956] |
Chr22:16054691..51220902 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916842-21915509)x1 |
copy number loss |
See cases [RCV000445962] |
Chr22:18916842..21915509 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916842-21798907)x1 |
copy number loss |
See cases [RCV000445855] |
Chr22:18916842..21798907 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18648866-21465659)x3 |
copy number gain |
See cases [RCV000445951] |
Chr22:18648866..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916842-21465659)x3 |
copy number gain |
See cases [RCV000448486] |
Chr22:18916842..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18637139-20289862) |
copy number gain |
Abnormal esophagus morphology [RCV000416656] |
Chr22:18637139..20289862 [GRCh37] Chr22:22q11.21 |
likely pathogenic |
GRCh37/hg19 22q11.21(chr22:18631979-21465659)x3 |
copy number gain |
See cases [RCV000448925] |
Chr22:18631979..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18648866-21800797)x1 |
copy number loss |
See cases [RCV000448538] |
Chr22:18648866..21800797 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916842-21465662)x3 |
copy number gain |
See cases [RCV000448166] |
Chr22:18916842..21465662 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 |
copy number gain |
See cases [RCV000448847] |
Chr22:16054691..51237463 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916827-21465662)x1 |
copy number loss |
See cases [RCV000447793] |
Chr22:18916827..21465662 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:19058829-19187662)x3 |
copy number gain |
See cases [RCV000448198] |
Chr22:19058829..19187662 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.1-11.21(chr22:16888899-20716903)x1 |
copy number loss |
See cases [RCV000448331] |
Chr22:16888899..20716903 [GRCh37] Chr22:22q11.1-11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18644790-21465659)x1 |
copy number loss |
See cases [RCV000448762] |
Chr22:18644790..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18894339-21440455)x1 |
copy number loss |
See cases [RCV000448077] |
Chr22:18894339..21440455 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.1-11.23(chr22:16888899-23723805)x3 |
copy number gain |
See cases [RCV000448224] |
Chr22:16888899..23723805 [GRCh37] Chr22:22q11.1-11.23 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18650664-21440455)x3 |
copy number gain |
See cases [RCV000448770] |
Chr22:18650664..21440455 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18894339-20255110)x1 |
copy number loss |
See cases [RCV000447750] |
Chr22:18894339..20255110 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916842-20312661)x1 |
copy number loss |
See cases [RCV000447847] |
Chr22:18916842..20312661 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18917047-21465659)x1 |
copy number loss |
See cases [RCV000510221] |
Chr22:18917047..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18917047-21465662)x1 |
copy number loss |
See cases [RCV000510658] |
Chr22:18917047..21465662 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.1-11.21(chr22:16888899-20311858)x3 |
copy number gain |
See cases [RCV000510690] |
Chr22:16888899..20311858 [GRCh37] Chr22:22q11.1-11.21 |
pathogenic |
GRCh37/hg19 22q11.1-11.21(chr22:16888900-20026751)x1 |
copy number loss |
See cases [RCV000510232] |
Chr22:16888900..20026751 [GRCh37] Chr22:22q11.1-11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916828-20312661)x1 |
copy number loss |
See cases [RCV000510556] |
Chr22:18916828..20312661 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:19024657-21465662)x1 |
copy number loss |
See cases [RCV000510463] |
Chr22:19024657..21465662 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916828-21049800)x1 |
copy number loss |
See cases [RCV000510907] |
Chr22:18916828..21049800 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) |
copy number gain |
See cases [RCV000510873] |
Chr22:16888900..51197838 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18609712-21408430) |
copy number gain |
Chromosome 22q11.2 microduplication syndrome [RCV000767590] |
Chr22:18609712..21408430 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_005137.3(DGCR2):c.194A>G (p.Asn65Ser) |
single nucleotide variant |
not specified [RCV004322023] |
Chr22:19089376 [GRCh38] Chr22:19076889 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_005137.3(DGCR2):c.1555G>A (p.Val519Met) |
single nucleotide variant |
not specified [RCV004286604] |
Chr22:19038963 [GRCh38] Chr22:19026476 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:18650803-21460220) |
copy number gain |
Chromosome 22q11.2 microduplication syndrome [RCV000767593] |
Chr22:18650803..21460220 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18893888-21481925)x1 |
copy number loss |
not provided [RCV003312569] |
Chr22:18893888..21481925 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18894835-21505417) |
copy number loss |
Ear malformation [RCV000626528] |
Chr22:18894835..21505417 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916842-21804716)x1 |
copy number loss |
See cases [RCV000512402] |
Chr22:18916842..21804716 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 |
copy number gain |
See cases [RCV000512333] |
Chr22:16888900..51197838 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18644790-21465659)x3 |
copy number gain |
See cases [RCV000512387] |
Chr22:18644790..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18970560-21465662)x3 |
copy number gain |
not provided [RCV000684508] |
Chr22:18970560..21465662 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18935463-21465659)x1 |
copy number loss |
not provided [RCV000684509] |
Chr22:18935463..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916842-21465662)x1 |
copy number loss |
not provided [RCV000684510] |
Chr22:18916842..21465662 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916827-21465659)x3 |
copy number gain |
not provided [RCV000684511] |
Chr22:18916827..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18645353-21465659)x3 |
copy number gain |
not provided [RCV000684512] |
Chr22:18645353..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18644542-21465659)x1 |
copy number loss |
not provided [RCV000684513] |
Chr22:18644542..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916842-21798907)x1 |
copy number loss |
not provided [RCV000684514] |
Chr22:18916842..21798907 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18648866-21800797)x1 |
copy number loss |
not provided [RCV000684516] |
Chr22:18648866..21800797 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18626108-21800797)x1 |
copy number loss |
not provided [RCV000684517] |
Chr22:18626108..21800797 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18644790-21915509)x1 |
copy number loss |
not provided [RCV000684519] |
Chr22:18644790..21915509 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.1-11.21(chr22:16888899-20312661)x3 |
copy number gain |
not provided [RCV000684521] |
Chr22:16888899..20312661 [GRCh37] Chr22:22q11.1-11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18644790-19024659)x1 |
copy number loss |
not provided [RCV000684470] |
Chr22:18644790..19024659 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:18916842-20310938)x1 |
copy number loss |
not provided [RCV000684495] |
Chr22:18916842..20310938 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916842-20311858)x3 |
copy number gain |
not provided [RCV000684496] |
Chr22:18916842..20311858 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18649189-20311858)x3 |
copy number gain |
not provided [RCV000684500] |
Chr22:18649189..20311858 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916842-20716903)x1 |
copy number loss |
not provided [RCV000684502] |
Chr22:18916842..20716903 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916842-20767095)x1 |
copy number loss |
not provided [RCV000684503] |
Chr22:18916842..20767095 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916827-21050078)x3 |
copy number gain |
not provided [RCV000684505] |
Chr22:18916827..21050078 [GRCh37] Chr22:22q11.21 |
pathogenic |
Single allele |
deletion |
DiGeorge syndrome [RCV001003853] |
Chr22:18475385..23764120 [GRCh37] Chr22:22q11.21-11.23 |
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 |
NC_000022.11:g.(?_18846939)_(21221413_?)del |
deletion |
Schizophrenia [RCV000754245] |
Chr22:18846939..21221413 [GRCh38] Chr22:22q11.21 |
pathogenic |
NC_000022.11:g.(?_18159879)_(21362822_?)del |
deletion |
Schizophrenia [RCV000754240] |
Chr22:18159879..21362822 [GRCh38] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18650746-19743640)x1 |
copy number loss |
not provided [RCV000741724] |
Chr22:18650746..19743640 [GRCh37] Chr22:22q11.21 |
benign |
GRCh37/hg19 22q11.21(chr22:18675473-21465050)x3 |
copy number gain |
not provided [RCV000741726] |
Chr22:18675473..21465050 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18728118-21811991)x1 |
copy number loss |
not provided [RCV000741727] |
Chr22:18728118..21811991 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18844632-21463730)x3 |
copy number gain |
not provided [RCV000741728] |
Chr22:18844632..21463730 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18844632-21608479)x1 |
copy number loss |
not provided [RCV000741729] |
Chr22:18844632..21608479 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18861748-21463730)x1 |
copy number loss |
not provided [RCV000741730] |
Chr22:18861748..21463730 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18872508-21465050)x1 |
copy number loss |
not provided [RCV000741731] |
Chr22:18872508..21465050 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18875869-21470273)x1 |
copy number loss |
not provided [RCV000741733] |
Chr22:18875869..21470273 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18875956-21466715)x1 |
copy number loss |
not provided [RCV000741734] |
Chr22:18875956..21466715 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18878409-21465050)x1 |
copy number loss |
not provided [RCV000741735] |
Chr22:18878409..21465050 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18878409-21467387)x3 |
copy number gain |
not provided [RCV000741736] |
Chr22:18878409..21467387 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18878409-21907671)x1 |
copy number loss |
not provided [RCV000741737] |
Chr22:18878409..21907671 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18884401-21467387)x3 |
copy number gain |
not provided [RCV000741738] |
Chr22:18884401..21467387 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:18886915-21463730)x1 |
copy number loss |
not provided [RCV000741739] |
Chr22:18886915..21463730 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18886915-21465050)x1 |
copy number loss |
not provided [RCV000741740] |
Chr22:18886915..21465050 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 |
copy number gain |
not provided [RCV000741689] |
Chr22:16054667..51243435 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18886915-21467387)x1 |
copy number loss |
not provided [RCV000741741] |
Chr22:18886915..21467387 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18889490-20312668)x1 |
copy number loss |
not provided [RCV000741742] |
Chr22:18889490..20312668 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18889490-21466715)x1 |
copy number loss |
not provided [RCV000741743] |
Chr22:18889490..21466715 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18891398-21463730)x3 |
copy number gain |
not provided [RCV000741744] |
Chr22:18891398..21463730 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18892575-19024651)x3 |
copy number gain |
not provided [RCV000741745] |
Chr22:18892575..19024651 [GRCh37] Chr22:22q11.21 |
benign |
GRCh37/hg19 22q11.21(chr22:18917748-19024651)x3 |
copy number gain |
not provided [RCV000741746] |
Chr22:18917748..19024651 [GRCh37] Chr22:22q11.21 |
benign |
GRCh37/hg19 22q11.21(chr22:19016663-21463730)x1 |
copy number loss |
not provided [RCV000741747] |
Chr22:19016663..21463730 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.1-11.21(chr22:16114244-20737903)x3 |
copy number gain |
not provided [RCV000741690] |
Chr22:16114244..20737903 [GRCh37] Chr22:22q11.1-11.21 |
pathogenic |
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 |
copy number gain |
not provided [RCV000741691] |
Chr22:16114244..51195728 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 |
copy number gain |
not provided [RCV000741692] |
Chr22:16114244..51211392 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
NM_005137.3(DGCR2):c.1089G>A (p.Leu363=) |
single nucleotide variant |
not provided [RCV000915660] |
Chr22:19041877 [GRCh38] Chr22:19029390 [GRCh37] Chr22:22q11.21 |
likely benign |
GRCh37/hg19 22q11.21(chr22:18648855-21461017)x3 |
copy number gain |
Chromosome 22q11.2 microduplication syndrome [RCV000788061] |
Chr22:18648855..21461017 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18912231-21465672)x1 |
copy number loss |
Velocardiofacial syndrome [RCV000788056] |
Chr22:18912231..21465672 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.1-11.21(chr22:16888899-20125005)x1 |
copy number loss |
not provided [RCV001007156] |
Chr22:16888899..20125005 [GRCh37] Chr22:22q11.1-11.21 |
pathogenic |
NC_000022.10:g.(?_18910310)_(19770565_?)dup |
duplication |
DiGeorge syndrome [RCV001031037] |
Chr22:18910310..19770565 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:18923898-21431174) |
copy number gain |
Chromosome 22q11.2 microduplication syndrome [RCV000767630] |
Chr22:18923898..21431174 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18892575-21460220) |
copy number loss |
DiGeorge syndrome [RCV000767692] |
Chr22:18892575..21460220 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.1-11.21(chr22:17072086-20130474) |
copy number gain |
not provided [RCV000767814] |
Chr22:17072086..20130474 [GRCh37] Chr22:22q11.1-11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18922151-21449911)x1 |
copy number loss |
Velocardiofacial syndrome [RCV000788058] |
Chr22:18922151..21449911 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18919477-21800471)x1 |
copy number loss |
Velocardiofacial syndrome [RCV000788060] |
Chr22:18919477..21800471 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18648855-21927646)x3 |
copy number gain |
Chromosome 22q11.2 microduplication syndrome [RCV000788063] |
Chr22:18648855..21927646 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18912403-21431174) |
copy number loss |
DiGeorge syndrome [RCV000767629] |
Chr22:18912403..21431174 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18650803-21386010) |
copy number gain |
Chromosome 22q11.2 microduplication syndrome [RCV000767595] |
Chr22:18650803..21386010 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18900755-21075586) |
copy number gain |
Chromosome 22q11.2 microduplication syndrome [RCV000767598] |
Chr22:18900755..21075586 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18892575-20308800) |
copy number gain |
Chromosome 22q11.2 microduplication syndrome [RCV000767597] |
Chr22:18892575..20308800 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18918741-20311922) |
copy number loss |
DiGeorge syndrome [RCV000767628] |
Chr22:18918741..20311922 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18912870-21431174) |
copy number loss |
DiGeorge syndrome [RCV000767633] |
Chr22:18912870..21431174 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18900755-21800277) |
copy number loss |
DiGeorge syndrome [RCV000767747] |
Chr22:18900755..21800277 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18892575-21460220) |
copy number loss |
DiGeorge syndrome [RCV000767687] |
Chr22:18892575..21460220 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18912514-21431174) |
copy number gain |
Chromosome 22q11.2 microduplication syndrome [RCV000767689] |
Chr22:18912514..21431174 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18661724-21505417)x1 |
copy number loss |
Velocardiofacial syndrome [RCV000856641] |
Chr22:18661724..21505417 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18611223-21408430) |
copy number gain |
Chromosome 22q11.2 microduplication syndrome [RCV000767591] |
Chr22:18611223..21408430 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18901004-21408430) |
copy number loss |
DiGeorge syndrome [RCV000767594] |
Chr22:18901004..21408430 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18892575-21460220) |
copy number gain |
Chromosome 22q11.2 microduplication syndrome [RCV000767596] |
Chr22:18892575..21460220 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18912514-21922035) |
copy number gain |
Chromosome 22q11.2 microduplication syndrome [RCV000767627] |
Chr22:18912514..21922035 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_005137.3(DGCR2):c.31C>T (p.Leu11=) |
single nucleotide variant |
not provided [RCV000905313] |
Chr22:19122176 [GRCh38] Chr22:19109689 [GRCh37] Chr22:22q11.21 |
benign |
GRCh37/hg19 22q11.21(chr22:18650745-21460220) |
copy number gain |
Chromosome 22q11.2 microduplication syndrome [RCV000767592] |
Chr22:18650745..21460220 [GRCh37] 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 |
GRCh37/hg19 22q11.1-11.21(chr22:17289827-20311922) |
copy number gain |
Chromosome 22q11.2 microduplication syndrome [RCV000767815] |
Chr22:17289827..20311922 [GRCh37] Chr22:22q11.1-11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18937380-21459713)x3 |
copy number gain |
Chromosome 22q11.2 microduplication syndrome [RCV000788062] |
Chr22:18937380..21459713 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916827-20311858)x1 |
copy number loss |
not provided [RCV000849445] |
Chr22:18916827..20311858 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.1-11.21(chr22:16888899-20312661)x3 |
copy number gain |
not provided [RCV000846815] |
Chr22:16888899..20312661 [GRCh37] Chr22:22q11.1-11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916842-19024659)x1 |
copy number loss |
not provided [RCV000848111] |
Chr22:18916842..19024659 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:18648866-19024659)x1 |
copy number loss |
not provided [RCV000849613] |
Chr22:18648866..19024659 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:18916842-19147661)x3 |
copy number gain |
not provided [RCV000849674] |
Chr22:18916842..19147661 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:18916842-19024659)x1 |
copy number loss |
not provided [RCV000847892] |
Chr22:18916842..19024659 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:18916842-21033371)x1 |
copy number loss |
not provided [RCV001007165] |
Chr22:18916842..21033371 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.1-11.21(chr22:17055733-20312661)x3 |
copy number gain |
not provided [RCV000845704] |
Chr22:17055733..20312661 [GRCh37] Chr22:22q11.1-11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18636749-21800471)x1 |
copy number loss |
Velocardiofacial syndrome [RCV000788059] |
Chr22:18636749..21800471 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18889490-21917190)x1 |
copy number loss |
See cases [RCV000790601] |
Chr22:18889490..21917190 [GRCh37] Chr22:22q11.21 |
pathogenic |
Single allele |
duplication |
Neurodevelopmental disorder [RCV000787407] |
Chr22:17041669..20247250 [GRCh37] Chr22:22q11.1-11.21 |
likely pathogenic |
Single allele |
deletion |
Neurodevelopmental disorder [RCV000787412] |
Chr22:18890264..21540347 [GRCh37] Chr22:22q11.21 |
pathogenic |
Single allele |
duplication |
Neurodevelopmental disorder [RCV000787416] |
Chr22:18890264..21464056 [GRCh37] Chr22:22q11.21 |
likely pathogenic |
GRCh37/hg19 22q11.21(chr22:18631364-21800471)x1 |
copy number loss |
Velocardiofacial syndrome [RCV000788057] |
Chr22:18631364..21800471 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916827-19024659)x1 |
copy number loss |
not provided [RCV000846757] |
Chr22:18916827..19024659 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:18916842-19024659)x1 |
copy number loss |
not provided [RCV000845857] |
Chr22:18916842..19024659 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:18916842-19024659)x1 |
copy number loss |
not provided [RCV000847091] |
Chr22:18916842..19024659 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:18916842-19024659)x1 |
copy number loss |
not provided [RCV000846705] |
Chr22:18916842..19024659 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:19039991-19195019)x3 |
copy number gain |
not provided [RCV000847713] |
Chr22:19039991..19195019 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:18916842-19024659)x1 |
copy number loss |
not provided [RCV000849174] |
Chr22:18916842..19024659 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:18916842-19024659)x1 |
copy number loss |
not provided [RCV000849604] |
Chr22:18916842..19024659 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:18916842-19149300)x1 |
copy number loss |
not provided [RCV001007164] |
Chr22:18916842..19149300 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:18916842-20311858)x1 |
copy number loss |
not provided [RCV000846352] |
Chr22:18916842..20311858 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916842-19024659)x1 |
copy number loss |
not provided [RCV000845918] |
Chr22:18916842..19024659 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:18916842-19024657)x1 |
copy number loss |
not provided [RCV000845623] |
Chr22:18916842..19024657 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:19058829-19163604)x1 |
copy number loss |
not provided [RCV001249262] |
Chr22:19058829..19163604 [GRCh37] Chr22:22q11.21 |
not provided |
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 |
copy number gain |
not provided [RCV000846344] |
Chr22:16888899..51197838 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18649189-19024657)x1 |
copy number loss |
not provided [RCV000845816] |
Chr22:18649189..19024657 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:18912403-21431174) |
copy number loss |
DiGeorge syndrome [RCV001195119] |
Chr22:18912403..21431174 [GRCh37] 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 |
NC_000022.10:g.(?_17565982)_(20052185_?)del |
deletion |
Immunodeficiency 51 [RCV003122555]|Vasculitis due to ADA2 deficiency [RCV003107327] |
Chr22:17565982..20052185 [GRCh37] Chr22:22q11.1-11.21 |
pathogenic |
NM_005137.3(DGCR2):c.1232C>T (p.Thr411Met) |
single nucleotide variant |
not specified [RCV004296031] |
Chr22:19041222 [GRCh38] Chr22:19028735 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_005137.3(DGCR2):c.1533C>T (p.Ala511=) |
single nucleotide variant |
not provided [RCV000916464] |
Chr22:19038985 [GRCh38] Chr22:19026498 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_005137.3(DGCR2):c.678T>G (p.Ser226=) |
single nucleotide variant |
not provided [RCV000909302] |
Chr22:19057110 [GRCh38] Chr22:19044623 [GRCh37] Chr22:22q11.21 |
benign |
NM_005137.3(DGCR2):c.1317G>A (p.Pro439=) |
single nucleotide variant |
not provided [RCV000953402] |
Chr22:19041137 [GRCh38] Chr22:19028650 [GRCh37] Chr22:22q11.21 |
benign|likely benign |
GRCh37/hg19 22q11.1-11.21(chr22:16888899-20730144)x1 |
copy number loss |
not provided [RCV001007159] |
Chr22:16888899..20730144 [GRCh37] Chr22:22q11.1-11.21 |
pathogenic |
NM_005137.3(DGCR2):c.423C>T (p.Ala141=) |
single nucleotide variant |
not provided [RCV000955594] |
Chr22:19064973 [GRCh38] Chr22:19052486 [GRCh37] Chr22:22q11.21 |
benign |
GRCh37/hg19 22q11.21(chr22:18648867-20311858)x3 |
copy number gain |
not provided [RCV002472883] |
Chr22:18648867..20311858 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916843-21804563)x3 |
copy number gain |
not provided [RCV002472525] |
Chr22:18916843..21804563 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916843-20311858)x1 |
copy number loss |
not provided [RCV002473556] |
Chr22:18916843..20311858 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18648867-21798907)x3 |
copy number gain |
not provided [RCV002473937] |
Chr22:18648867..21798907 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.1-12.1(chr22:16888899-27657507)x3 |
copy number gain |
not provided [RCV001007163] |
Chr22:16888899..27657507 [GRCh37] Chr22:22q11.1-12.1 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18886915-21463730)x1 |
copy number loss |
See cases [RCV001194516] |
Chr22:18886915..21463730 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18886915-21463730)x1 |
copy number loss |
See cases [RCV001194533] |
Chr22:18886915..21463730 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18844632-21797812)x1 |
copy number loss |
See cases [RCV001194550] |
Chr22:18844632..21797812 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.1-11.22(chr22:16888899-22290476)x3 |
copy number gain |
not provided [RCV001007162] |
Chr22:16888899..22290476 [GRCh37] Chr22:22q11.1-11.22 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18970561-21040836)x3 |
copy number gain |
not provided [RCV001007167] |
Chr22:18970561..21040836 [GRCh37] Chr22:22q11.21 |
pathogenic |
NC_000022.10:g.(?_18900668)_(19770565_?)dup |
duplication |
DiGeorge syndrome [RCV001032842] |
Chr22:18900668..19770565 [GRCh37] Chr22:22q11.21 |
uncertain significance |
Single allele |
deletion |
Inherited Immunodeficiency Diseases [RCV001027643] |
Chr22:18789965..21591197 [GRCh37] Chr22:22q11.21 |
likely pathogenic |
GRCh37/hg19 22q11.21(chr22:18916842-21075592)x1 |
copy number loss |
not provided [RCV001007166] |
Chr22:18916842..21075592 [GRCh37] Chr22:22q11.21 |
pathogenic |
NC_000022.10:g.(?_18900688)_(20052185_?)dup |
duplication |
not provided [RCV001031244] |
Chr22:18900688..20052185 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:18892575-20306993)x3 |
copy number gain |
See cases [RCV001007434] |
Chr22:18892575..20306993 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18889693-21465485)x1 |
copy number loss |
not provided [RCV001537920] |
Chr22:18889693..21465485 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18889571-21464697)x1 |
copy number loss |
not provided [RCV001537922] |
Chr22:18889571..21464697 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.1-12.1(chr22:16888899-26483608)x3 |
copy number gain |
Cat eye syndrome [RCV001263219] |
Chr22:16888899..26483608 [GRCh37] Chr22:22q11.1-12.1 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18765102-21661435)x1 |
copy number loss |
See cases [RCV001263047] |
Chr22:18765102..21661435 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18648866-21465659)x4 |
copy number gain |
not provided [RCV001259979] |
Chr22:18648866..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21-11.22(chr22:19035089-22672555)x3 |
copy number gain |
not provided [RCV001259984] |
Chr22:19035089..22672555 [GRCh37] Chr22:22q11.21-11.22 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:19024656-21465662)x3 |
copy number gain |
not provided [RCV001259978] |
Chr22:19024656..21465662 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916842-21011216)x1 |
copy number loss |
not provided [RCV001259980] |
Chr22:18916842..21011216 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18917047-21465659) |
copy number gain |
Chromosome 22q11.2 microduplication syndrome [RCV002280735] |
Chr22:18917047..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.1-11.21(chr22:16888899-21915509) |
copy number gain |
Chromosome 22q11.2 microduplication syndrome [RCV002280738] |
Chr22:16888899..21915509 [GRCh37] Chr22:22q11.1-11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18628147-21722313)x3 |
copy number gain |
See cases [RCV001263041] |
Chr22:18628147..21722313 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 |
copy number gain |
See cases [RCV001263056] |
Chr22:16197005..51224252 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18661699-21457610)x1 |
copy number loss |
See cases [RCV001263054] |
Chr22:18661699..21457610 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.1-11.21(chr22:16800000-21500000)x4 |
copy number gain |
not provided [RCV001270641] |
Chr22:16800000..21500000 [GRCh37] Chr22:22q11.1-11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18889950-21466053)x1 |
copy number loss |
not provided [RCV001270642] |
Chr22:18889950..21466053 [GRCh37] Chr22:22q11.21 |
pathogenic |
NC_000022.10:g.(?_18900668)_(19770565_?)dup |
duplication |
DiGeorge Syndrome [RCV001316807] |
Chr22:18900668..19770565 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:18886915-21461017)x3 |
copy number gain |
Epilepsy [RCV001293650] |
Chr22:18886915..21461017 [GRCh37] Chr22:22q11.21 |
pathogenic |
NC_000022.10:g.(?_18900688)_(21351637_?)del |
deletion |
DiGeorge syndrome [RCV001383366]|not provided [RCV001871994] |
Chr22:18900688..21351637 [GRCh37] Chr22:22q11.21 |
pathogenic|no classifications from unflagged records |
GRCh37/hg19 22q11.21(chr22:18841374-21465101)x3 |
copy number gain |
not provided [RCV001537919] |
Chr22:18841374..21465101 [GRCh37] Chr22:22q11.21 |
pathogenic |
Single allele |
deletion |
Intellectual disability [RCV001293370] |
Chr22:18886915..21463730 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18889977-21463189)x3 |
copy number gain |
not provided [RCV001537921] |
Chr22:18889977..21463189 [GRCh37] Chr22:22q11.21 |
pathogenic |
Single allele |
deletion |
Epilepsy [RCV001293366] |
Chr22:18889490..21463730 [GRCh37] Chr22:22q11.21 |
pathogenic |
Single allele |
deletion |
DiGeorge syndrome [RCV001391672] |
Chr22:18893882..21571027 [GRCh37] Chr22:22q11.21 |
pathogenic |
Single allele |
deletion |
DiGeorge syndrome [RCV001391675] |
Chr22:18893882..21563420 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18909044-21464119) |
copy number gain |
Cryptorchidism [RCV001291958] |
Chr22:18909044..21464119 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18889969-21462658)x1 |
copy number loss |
See cases [RCV001526484] |
Chr22:18889969..21462658 [GRCh37] Chr22:22q11.21 |
pathogenic |
NC_000022.11:g.18948676_21110520del |
deletion |
Velocardiofacial syndrome [RCV003318485] |
Chr22:18948676..21110520 [GRCh38] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18884514-21484289)x1 |
copy number loss |
See cases [RCV002246175] |
Chr22:18884514..21484289 [GRCh37] Chr22:22q11.21 |
pathogenic |
NC_000022.10:g.18687210_19060954dup |
duplication |
Megacolon [RCV001290068] |
Chr22:18687210..19060954 [GRCh37] Chr22:22q11.21 |
likely pathogenic |
GRCh37/hg19 22q11.21(chr22:19036286-21208284)x1 |
copy number loss |
Schizophrenia [RCV001801223] |
Chr22:19036286..21208284 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18884714-21483289)x1 |
copy number loss |
See cases [RCV001780077] |
Chr22:18884714..21483289 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18660135-21737597)x1 |
copy number loss |
Chromosome 22q11.2 deletion syndrome, distal [RCV001801214] |
Chr22:18660135..21737597 [GRCh37] Chr22:22q11.21 |
pathogenic |
NC_000022.10:g.18861209_21630630del |
deletion |
Megacolon [RCV001290034] |
Chr22:18861209..21630630 [GRCh37] Chr22:22q11.21 |
likely pathogenic |
GRCh37/hg19 22q11.21(chr22:18873001-21469900) |
copy number gain |
Cerebral palsy [RCV001796564] |
Chr22:18873001..21469900 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916827-21804886) |
copy number gain |
Chromosome 22q11.2 microduplication syndrome [RCV002280737] |
Chr22:18916827..21804886 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18648866-21798907) |
copy number loss |
DiGeorge syndrome [RCV002280731] |
Chr22:18648866..21798907 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18505502-19024659)x3 |
copy number gain |
not provided [RCV001829176] |
Chr22:18505502..19024659 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:18626109-19285816)x1 |
copy number loss |
not provided [RCV001834538] |
Chr22:18626109..19285816 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NC_000022.10:g.(?_18900668)_(19747220_?)del |
deletion |
DiGeorge syndrome [RCV001953537] |
Chr22:18900668..19747220 [GRCh37] Chr22:22q11.21 |
pathogenic |
NC_000022.10:g.(?_18900688)_(21351637_?)dup |
duplication |
DiGeorge syndrome [RCV001952526] |
Chr22:18900688..21351637 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:18718028-21326012)x1 |
copy number loss |
See cases [RCV002246178] |
Chr22:18718028..21326012 [GRCh37] Chr22:22q11.21 |
pathogenic |
Single allele |
deletion |
Velocardiofacial syndrome [RCV002247726] |
Chr22:18948677..21110520 [GRCh38] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18645353-21800797) |
copy number loss |
DiGeorge syndrome [RCV002280727] |
Chr22:18645353..21800797 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18644790-21798907) |
copy number loss |
DiGeorge syndrome [RCV002280728] |
Chr22:18644790..21798907 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916842-21798907) |
copy number loss |
DiGeorge syndrome [RCV002280729] |
Chr22:18916842..21798907 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18644702-21467607)x1 |
copy number loss |
Syndromic anorectal malformation [RCV002286606] |
Chr22:18644702..21467607 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18893888-21414817)x1 |
copy number loss |
not provided [RCV002276112] |
Chr22:18893888..21414817 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_005137.3(DGCR2):c.221G>A (p.Arg74His) |
single nucleotide variant |
not provided [RCV002276238] |
Chr22:19068207 [GRCh38] Chr22:19055720 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:18916842-21465659)x1 |
copy number loss |
See cases [RCV002292204] |
Chr22:18916842..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18718623-21563155)x1 |
copy number loss |
Syndromic anorectal malformation [RCV002286609] |
Chr22:18718623..21563155 [GRCh37] Chr22:22q11.21 |
likely pathogenic |
GRCh37/hg19 22q11.21(chr22:18644542-21465659)x1 |
copy number loss |
See cases [RCV002287573] |
Chr22:18644542..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18644790-21800471) |
copy number loss |
DiGeorge syndrome [RCV002280730] |
Chr22:18644790..21800471 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18893344-21650280) |
copy number loss |
DiGeorge syndrome [RCV002280732] |
Chr22:18893344..21650280 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18893888-21414817)x3 |
copy number gain |
not provided [RCV002293073] |
Chr22:18893888..21414817 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_005137.3(DGCR2):c.604C>T (p.Arg202Cys) |
single nucleotide variant |
not specified [RCV004326233] |
Chr22:19063223 [GRCh38] Chr22:19050736 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:18916843-21075592)x1 |
copy number loss |
not provided [RCV002474582] |
Chr22:18916843..21075592 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:19046677-21465662)x1 |
copy number loss |
not provided [RCV002473738] |
Chr22:19046677..21465662 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.1-11.21(chr22:17570796-19695101)x1 |
copy number loss |
not provided [RCV002473774] |
Chr22:17570796..19695101 [GRCh37] Chr22:22q11.1-11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:18916843-21465659)x1 |
copy number loss |
not provided [RCV002474586] |
Chr22:18916843..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916843-21915509)x1 |
copy number loss |
not provided [RCV002473950] |
Chr22:18916843..21915509 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916843-21798907)x3 |
copy number gain |
not provided [RCV002472508] |
Chr22:18916843..21798907 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18644791-21041014)x1 |
copy number loss |
not provided [RCV002474720] |
Chr22:18644791..21041014 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916828-21800797)x1 |
copy number loss |
not provided [RCV002473925] |
Chr22:18916828..21800797 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18644543-21800797)x1 |
copy number loss |
not provided [RCV002473959] |
Chr22:18644543..21800797 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18648867-21465659)x1 |
copy number loss |
not provided [RCV002472511] |
Chr22:18648867..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916843-21800471)x1 |
copy number loss |
not provided [RCV002472532] |
Chr22:18916843..21800471 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916843-21033401)x1 |
copy number loss |
not provided [RCV002472535] |
Chr22:18916843..21033401 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_005137.3(DGCR2):c.1471C>T (p.Arg491Trp) |
single nucleotide variant |
not specified [RCV004233692] |
Chr22:19039047 [GRCh38] Chr22:19026560 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:18893888-21570386)x1 |
copy number loss |
not provided [RCV002512211] |
Chr22:18893888..21570386 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_005137.3(DGCR2):c.621C>G (p.Phe207Leu) |
single nucleotide variant |
not specified [RCV004205014] |
Chr22:19063206 [GRCh38] Chr22:19050719 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_005137.3(DGCR2):c.1387G>T (p.Asp463Tyr) |
single nucleotide variant |
not specified [RCV004220878] |
Chr22:19041067 [GRCh38] Chr22:19028580 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_005137.3(DGCR2):c.403G>A (p.Gly135Arg) |
single nucleotide variant |
not specified [RCV004220955] |
Chr22:19064993 [GRCh38] Chr22:19052506 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_005137.3(DGCR2):c.475C>A (p.Gln159Lys) |
single nucleotide variant |
not specified [RCV004247011] |
Chr22:19064921 [GRCh38] Chr22:19052434 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_005137.3(DGCR2):c.1024G>C (p.Asp342His) |
single nucleotide variant |
not specified [RCV004102790] |
Chr22:19041942 [GRCh38] Chr22:19029455 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:18834445-21414817)x1 |
copy number loss |
not provided [RCV002512210] |
Chr22:18834445..21414817 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_005137.3(DGCR2):c.1389C>A (p.Asp463Glu) |
single nucleotide variant |
not specified [RCV004138968] |
Chr22:19041065 [GRCh38] Chr22:19028578 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:18894078-21414817)x1 |
copy number loss |
not provided [RCV002512212] |
Chr22:18894078..21414817 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_005137.3(DGCR2):c.440G>T (p.Arg147Leu) |
single nucleotide variant |
not specified [RCV004154190] |
Chr22:19064956 [GRCh38] Chr22:19052469 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_005137.3(DGCR2):c.1348C>A (p.Pro450Thr) |
single nucleotide variant |
not specified [RCV004131396] |
Chr22:19041106 [GRCh38] Chr22:19028619 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_005137.3(DGCR2):c.578C>T (p.Thr193Ile) |
single nucleotide variant |
not specified [RCV004110811] |
Chr22:19063249 [GRCh38] Chr22:19050762 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_005137.3(DGCR2):c.1534G>A (p.Asp512Asn) |
single nucleotide variant |
not specified [RCV004178290] |
Chr22:19038984 [GRCh38] Chr22:19026497 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_005137.3(DGCR2):c.476A>G (p.Gln159Arg) |
single nucleotide variant |
not specified [RCV004172449] |
Chr22:19064920 [GRCh38] Chr22:19052433 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_005137.3(DGCR2):c.733C>T (p.Arg245Trp) |
single nucleotide variant |
not specified [RCV004076020] |
Chr22:19057055 [GRCh38] Chr22:19044568 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_005137.3(DGCR2):c.1417G>A (p.Val473Met) |
single nucleotide variant |
not specified [RCV004143117] |
Chr22:19039101 [GRCh38] Chr22:19026614 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_005137.3(DGCR2):c.1133G>A (p.Arg378His) |
single nucleotide variant |
not specified [RCV004078750] |
Chr22:19041833 [GRCh38] Chr22:19029346 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_005137.3(DGCR2):c.280C>A (p.Pro94Thr) |
single nucleotide variant |
not specified [RCV004227922] |
Chr22:19068148 [GRCh38] Chr22:19055661 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_005137.3(DGCR2):c.284C>T (p.Ser95Leu) |
single nucleotide variant |
not specified [RCV004231899] |
Chr22:19068144 [GRCh38] Chr22:19055657 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_005137.3(DGCR2):c.374C>T (p.Thr125Met) |
single nucleotide variant |
not specified [RCV004171430] |
Chr22:19065022 [GRCh38] Chr22:19052535 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_005137.3(DGCR2):c.689A>G (p.Asn230Ser) |
single nucleotide variant |
not specified [RCV004165180] |
Chr22:19057099 [GRCh38] Chr22:19044612 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_005137.3(DGCR2):c.368A>G (p.Glu123Gly) |
single nucleotide variant |
not specified [RCV004077682] |
Chr22:19065028 [GRCh38] Chr22:19052541 [GRCh37] Chr22:22q11.21 |
uncertain significance |
Single allele |
deletion |
See cases [RCV003154622] |
Chr22:18893886..21386103 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_005137.3(DGCR2):c.901G>A (p.Gly301Arg) |
single nucleotide variant |
not specified [RCV004258426] |
Chr22:19048545 [GRCh38] Chr22:19036058 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_005137.3(DGCR2):c.11A>G (p.Lys4Arg) |
single nucleotide variant |
not specified [RCV004271674] |
Chr22:19122196 [GRCh38] Chr22:19109709 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_005137.3(DGCR2):c.440G>A (p.Arg147His) |
single nucleotide variant |
not specified [RCV004256392] |
Chr22:19064956 [GRCh38] Chr22:19052469 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_005137.3(DGCR2):c.691G>A (p.Val231Met) |
single nucleotide variant |
not specified [RCV004250803] |
Chr22:19057097 [GRCh38] Chr22:19044610 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_005137.3(DGCR2):c.830A>G (p.Asn277Ser) |
single nucleotide variant |
not specified [RCV004252815] |
Chr22:19048616 [GRCh38] Chr22:19036129 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_005137.3(DGCR2):c.253C>T (p.Arg85Trp) |
single nucleotide variant |
not specified [RCV004248237] |
Chr22:19068175 [GRCh38] Chr22:19055688 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:18916842-20311810) |
copy number gain |
Chromosome 22q11.2 microduplication syndrome [RCV003319586] |
Chr22:18916842..20311810 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18893838-20508931)x3 |
copy number gain |
Chromosome 22q11.2 deletion syndrome, distal [RCV003329495] |
Chr22:18893838..20508931 [GRCh37] 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 |
GRCh37/hg19 22q11.21(chr22:18893838-21416074)x3 |
copy number gain |
Chromosome 22q11.2 deletion syndrome, distal [RCV003329514]|Velocardiofacial syndrome [RCV003329513] |
Chr22:18893838..21416074 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18893838-20307561)x1 |
copy number loss |
DiGeorge syndrome [RCV003329526] |
Chr22:18893838..20307561 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_005137.3(DGCR2):c.1370C>T (p.Pro457Leu) |
single nucleotide variant |
not specified [RCV004349715] |
Chr22:19041084 [GRCh38] Chr22:19028597 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_005137.3(DGCR2):c.763G>A (p.Glu255Lys) |
single nucleotide variant |
not specified [RCV004355059] |
Chr22:19057025 [GRCh38] Chr22:19044538 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_005137.3(DGCR2):c.584G>A (p.Arg195Gln) |
single nucleotide variant |
not specified [RCV004365719] |
Chr22:19063243 [GRCh38] Chr22:19050756 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_005137.3(DGCR2):c.1273C>G (p.His425Asp) |
single nucleotide variant |
not specified [RCV004337054] |
Chr22:19041181 [GRCh38] Chr22:19028694 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:18893888-21563415)x1 |
copy number loss |
not provided [RCV003457105] |
Chr22:18893888..21563415 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.1-11.21(chr22:17832142-20945625)x1 |
copy number loss |
not provided [RCV003483389] |
Chr22:17832142..20945625 [GRCh37] Chr22:22q11.1-11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916843-20716903)x3 |
copy number gain |
not provided [RCV003485235] |
Chr22:18916843..20716903 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:19040482-19203095)x3 |
copy number gain |
not provided [RCV003485236] |
Chr22:19040482..19203095 [GRCh37] Chr22:22q11.21 |
uncertain significance |
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 |
NM_005137.3(DGCR2):c.304G>A (p.Val102Met) |
single nucleotide variant |
not provided [RCV003431621]|not specified [RCV004364581] |
Chr22:19068124 [GRCh38] Chr22:19055637 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_005137.3(DGCR2):c.1223C>T (p.Thr408Met) |
single nucleotide variant |
not provided [RCV003437463] |
Chr22:19041231 [GRCh38] Chr22:19028744 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_005137.3(DGCR2):c.1475G>A (p.Arg492His) |
single nucleotide variant |
not provided [RCV003431620] |
Chr22:19039043 [GRCh38] Chr22:19026556 [GRCh37] Chr22:22q11.21 |
benign |
NM_005137.3(DGCR2):c.1054G>A (p.Val352Ile) |
single nucleotide variant |
not specified [RCV004371184] |
Chr22:19041912 [GRCh38] Chr22:19029425 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_005137.3(DGCR2):c.1406C>G (p.Ala469Gly) |
single nucleotide variant |
not specified [RCV004371189] |
Chr22:19039112 [GRCh38] Chr22:19026625 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_005137.3(DGCR2):c.262C>T (p.Arg88Trp) |
single nucleotide variant |
not specified [RCV004371194] |
Chr22:19068166 [GRCh38] Chr22:19055679 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_005137.3(DGCR2):c.485G>T (p.Arg162Leu) |
single nucleotide variant |
not specified [RCV004371197] |
Chr22:19064911 [GRCh38] Chr22:19052424 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_005137.3(DGCR2):c.521G>C (p.Arg174Pro) |
single nucleotide variant |
not specified [RCV004371199] |
Chr22:19064875 [GRCh38] Chr22:19052388 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_005137.3(DGCR2):c.316G>A (p.Val106Ile) |
single nucleotide variant |
not specified [RCV004371196] |
Chr22:19068112 [GRCh38] Chr22:19055625 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:18919478-21461017)x3 |
copy number gain |
not provided [RCV004442819] |
Chr22:18919478..21461017 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.1-11.21(chr22:16888900-20312661)x3 |
copy number gain |
not provided [RCV004442760] |
Chr22:16888900..20312661 [GRCh37] Chr22:22q11.1-11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18648856-21800471)x1 |
copy number loss |
See cases [RCV004442844] |
Chr22:18648856..21800471 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_005137.3(DGCR2):c.1078A>G (p.Ile360Val) |
single nucleotide variant |
not specified [RCV004371185] |
Chr22:19041888 [GRCh38] Chr22:19029401 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_005137.3(DGCR2):c.1525G>T (p.Asp509Tyr) |
single nucleotide variant |
not specified [RCV004371193] |
Chr22:19038993 [GRCh38] Chr22:19026506 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_005137.3(DGCR2):c.1213G>A (p.Gly405Arg) |
single nucleotide variant |
not specified [RCV004371186] |
Chr22:19041241 [GRCh38] Chr22:19028754 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_005137.3(DGCR2):c.1472G>C (p.Arg491Pro) |
single nucleotide variant |
not specified [RCV004371191] |
Chr22:19039046 [GRCh38] Chr22:19026559 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_005137.3(DGCR2):c.1474C>T (p.Arg492Cys) |
single nucleotide variant |
not specified [RCV004371192] |
Chr22:19039044 [GRCh38] Chr22:19026557 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_005137.3(DGCR2):c.311A>T (p.Gln104Leu) |
single nucleotide variant |
not specified [RCV004371195] |
Chr22:19068117 [GRCh38] Chr22:19055630 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_005137.3(DGCR2):c.957G>C (p.Gln319His) |
single nucleotide variant |
not specified [RCV004371200] |
Chr22:19048489 [GRCh38] Chr22:19036002 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_005137.3(DGCR2):c.1405G>A (p.Ala469Thr) |
single nucleotide variant |
not specified [RCV004371188] |
Chr22:19039113 [GRCh38] Chr22:19026626 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_005137.3(DGCR2):c.1472G>A (p.Arg491Gln) |
single nucleotide variant |
not specified [RCV004371190] |
Chr22:19039046 [GRCh38] Chr22:19026559 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_005137.3(DGCR2):c.521G>A (p.Arg174Gln) |
single nucleotide variant |
not specified [RCV004371198] |
Chr22:19064875 [GRCh38] Chr22:19052388 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:18919478-21927646)x3 |
copy number gain |
not provided [RCV004442756] |
Chr22:18919478..21927646 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18649190-21022258)x3 |
copy number gain |
See cases [RCV004442816] |
Chr22:18649190..21022258 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18649190-21800471)x3 |
copy number gain |
not provided [RCV004442843] |
Chr22:18649190..21800471 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.1-11.21(chr22:16849364-20311389)x3 |
copy number gain |
not provided [RCV004577503] |
Chr22:16849364..20311389 [GRCh37] Chr22:22q11.1-11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:19016502-21464637)x1 |
copy number loss |
not provided [RCV004577504] |
Chr22:19016502..21464637 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18888685-21465668)x1 |
copy number loss |
not provided [RCV004577450] |
Chr22:18888685..21465668 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_005137.3(DGCR2):c.1628G>A (p.Arg543His) |
single nucleotide variant |
not specified [RCV004614007] |
Chr22:19038890 [GRCh38] Chr22:19026403 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_005137.3(DGCR2):c.1067CCT[1] (p.Ser357del) |
microsatellite |
not provided [RCV004810101] |
Chr22:19041894..19041896 [GRCh38] Chr22:19029407..19029409 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_005137.3(DGCR2):c.1448G>A (p.Gly483Asp) |
single nucleotide variant |
not specified [RCV004911444] |
Chr22:19039070 [GRCh38] Chr22:19026583 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_005137.3(DGCR2):c.1579G>A (p.Gly527Arg) |
single nucleotide variant |
not specified [RCV004911447] |
Chr22:19038939 [GRCh38] Chr22:19026452 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_005137.3(DGCR2):c.740A>G (p.His247Arg) |
single nucleotide variant |
not specified [RCV004911446] |
Chr22:19057048 [GRCh38] Chr22:19044561 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_005137.3(DGCR2):c.457G>A (p.Ala153Thr) |
single nucleotide variant |
not specified [RCV004911441] |
Chr22:19064939 [GRCh38] Chr22:19052452 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_005137.3(DGCR2):c.1268C>T (p.Thr423Ile) |
single nucleotide variant |
not specified [RCV004911442] |
Chr22:19041186 [GRCh38] Chr22:19028699 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_005137.3(DGCR2):c.1254C>T (p.Asp418=) |
single nucleotide variant |
not specified [RCV004911443] |
Chr22:19041200 [GRCh38] Chr22:19028713 [GRCh37] Chr22:22q11.21 |
likely benign |