Single allele |
deletion |
Epilepsy [RCV001293366] |
Chr22:18889490..21463730 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18915347-21463730)x1 |
copy number loss |
VATER association [RCV000520380] |
Chr22:18915347..21463730 [GRCh37] Chr22:22q11.21 |
likely 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 22q11.21-11.22(chr22:20671366-22046408)x3 |
copy number gain |
See cases [RCV000050932] |
Chr22:20671366..22046408 [GRCh38] Chr22:21025654..22400806 [GRCh37] Chr22:19355654..20730806 [NCBI36] Chr22:22q11.21-11.22 |
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 22q11.21(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 22q11.21-12.3(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 22q11.21(chr22:20394686-21145682)x3 |
copy number gain |
See cases [RCV000050725] |
Chr22:20394686..21145682 [GRCh38] Chr22:20748976..21499971 [GRCh37] Chr22:19078976..19829971 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.1-11.21(chr22:16916608-21151128)x3 |
copy number gain |
See cases [RCV000050614] |
Chr22:16916608..21151128 [GRCh38] Chr22:17397498..21505417 [GRCh37] Chr22:15777498..19835417 [NCBI36] Chr22:22q11.1-11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21454720)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 22q11.21(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(chr22:18339130-21454720)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(chr22:18339130-21107522)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(chr22:18339130-21040441)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(chr22:18339130-21151269)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(chr22:20726972-21151128)x3 |
copy number gain |
See cases [RCV000051094] |
Chr22:20726972..21151128 [GRCh38] Chr22:21081260..21505417 [GRCh37] Chr22:19411260..19835417 [NCBI36] Chr22:22q11.21 |
pathogenic|uncertain significance|conflicting data from submitters |
GRCh38/hg38 22q11.21(chr22:20726972-21151128)x1 |
copy number loss |
See cases [RCV000051096] |
Chr22:20726972..21151128 [GRCh38] Chr22:21081260..21505417 [GRCh37] Chr22:19411260..19835417 [NCBI36] Chr22:22q11.21 |
pathogenic|uncertain significance|conflicting data from submitters |
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(chr22:18178957-21151128)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(chr22:20400132-21151128)x3 |
copy number gain |
See cases [RCV000051176] |
Chr22:20400132..21151128 [GRCh38] Chr22:20754422..21505417 [GRCh37] Chr22:19084422..19835417 [NCBI36] Chr22:22q11.21 |
pathogenic|uncertain significance|conflicting data from submitters |
GRCh38/hg38 22q11.21(chr22:20400132-21151128)x1 |
copy number loss |
See cases [RCV000051177] |
Chr22:20400132..21151128 [GRCh38] Chr22:20754422..21505417 [GRCh37] Chr22:19084422..19835417 [NCBI36] Chr22:22q11.21 |
pathogenic|uncertain significance|conflicting data from submitters |
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(chr22:18339130-21207225)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(chr22:20604697-21025669)x3 |
copy number gain |
See cases [RCV000051960] |
Chr22:20604697..21025669 [GRCh38] Chr22:20958984..21379958 [GRCh37] Chr22:19288984..19709958 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21-11.22(chr22:20668552-22358488)x3 |
copy number gain |
See cases [RCV000051961] |
Chr22:20668552..22358488 [GRCh38] Chr22:21022840..22712836 [GRCh37] Chr22:19352840..21042836 [NCBI36] Chr22:22q11.21-11.22 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:20690750-21101267)x3 |
copy number gain |
See cases [RCV000051962] |
Chr22:20690750..21101267 [GRCh38] Chr22:21045038..21455556 [GRCh37] Chr22:19375038..19785556 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:20726972-21207225)x3 |
copy number gain |
See cases [RCV000051963] |
Chr22:20726972..21207225 [GRCh38] Chr22:21081260..21561514 [GRCh37] Chr22:19411260..19891514 [NCBI36] Chr22:22q11.21 |
pathogenic|uncertain significance|conflicting data from submitters |
GRCh38/hg38 22q11.21(chr22:20732418-21091671)x3 |
copy number gain |
See cases [RCV000051964] |
Chr22:20732418..21091671 [GRCh38] Chr22:21086706..21445960 [GRCh37] Chr22:19416706..19775960 [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(chr22:18339130-21101267)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 22q11.1-11.23(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(chr22:18339130-21151128)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 |
GRCh38/hg38 22q11.21(chr22:20354600-21053401)x1 |
copy number loss |
See cases [RCV000053050] |
Chr22:20354600..21053401 [GRCh38] Chr22:20708890..21407690 [GRCh37] Chr22:19038890..19737690 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:20363880-21073647)x1 |
copy number loss |
See cases [RCV000053053] |
Chr22:20363880..21073647 [GRCh38] Chr22:20718170..21427936 [GRCh37] Chr22:19048170..19757936 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:20379137-21151128)x1 |
copy number loss |
See cases [RCV000053055] |
Chr22:20379137..21151128 [GRCh38] Chr22:20733427..21505417 [GRCh37] Chr22:19063427..19835417 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:20711594-21101267)x1 |
copy number loss |
See cases [RCV000053058] |
Chr22:20711594..21101267 [GRCh38] Chr22:21065882..21455556 [GRCh37] Chr22:19395882..19785556 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21-11.23(chr22:20726772-23135971)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053061]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053061]|See cases [RCV000053061] |
Chr22:20726772..23135971 [GRCh38] Chr22:21081060..23478158 [GRCh37] Chr22:19411060..21808158 [NCBI36] Chr22:22q11.21-11.23 |
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(chr22:18339130-21101267)x3 |
copy number gain |
See cases [RCV000053012] |
Chr22:18339130..21101267 [GRCh38] Chr22:18938161..21455556 [GRCh37] Chr22:17318161..19785556 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21101267)x1 |
copy number loss |
See cases [RCV000053015] |
Chr22:18339130..21101267 [GRCh38] Chr22:18938161..21455556 [GRCh37] Chr22:17318161..19785556 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18886915-21811991)x1 |
copy number loss |
See cases [RCV000663399] |
Chr22:18886915..21811991 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_000185.4(SERPIND1):c.1385C>T (p.Pro462Leu) |
single nucleotide variant |
Heparin cofactor II deficiency [RCV000016095] |
Chr22:20786951 [GRCh38] Chr22:21141239 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_000185.4(SERPIND1):c.321dup (p.Val108fs) |
duplication |
Heparin cofactor II deficiency [RCV000016093] |
Chr22:20779632..20779633 [GRCh38] Chr22:21133920..21133921 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_000185.4(SERPIND1):c.1429_1430del (p.Phe477fs) |
deletion |
Heparin cofactor II deficiency [RCV000016094] |
Chr22:20786993..20786994 [GRCh38] Chr22:21141281..21141282 [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 |
NM_058004.4(PI4KA):c.2575-1G>A |
single nucleotide variant |
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV002250230] |
Chr22:20764951 [GRCh38] Chr22:21119239 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18389245-21086225)x1 |
copy number loss |
See cases [RCV000133643] |
Chr22:18389245..21086225 [GRCh38] Chr22:20659547..21440514 [GRCh37] Chr22:18989547..19770514 [NCBI36] Chr22:22q11.21 |
uncertain significance |
GRCh38/hg38 22q11.1-13.33(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 |
NM_058004.4(PI4KA):c.5821C>T (p.Arg1941Ter) |
single nucleotide variant |
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV004598385] |
Chr22:20711443 [GRCh38] Chr22:21065731 [GRCh37] Chr22:22q11.21 |
pathogenic|likely pathogenic |
NM_058004.4(PI4KA):c.2386C>T (p.Arg796Ter) |
single nucleotide variant |
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV000190465] |
Chr22:20765636 [GRCh38] Chr22:21119924 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_058004.4(PI4KA):c.5560G>A (p.Asp1854Asn) |
single nucleotide variant |
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV000190466]|not provided [RCV001311593] |
Chr22:20713292 [GRCh38] Chr22:21067580 [GRCh37] Chr22:22q11.21 |
pathogenic|likely pathogenic |
NM_058004.4(PI4KA):c.4156T>G (p.Phe1386Val) |
single nucleotide variant |
Spastic paraplegia 84, autosomal recessive [RCV004799710] |
Chr22:20733740 [GRCh38] Chr22:21088028 [GRCh37] Chr22:22q11.21 |
likely pathogenic |
Single allele |
deletion |
Intellectual disability [RCV001293370] |
Chr22:18886915..21463730 [GRCh37] 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 |
NM_058004.4(PI4KA):c.2277+1G>A |
single nucleotide variant |
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001292923] |
Chr22:20796145 [GRCh38] Chr22:21150433 [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(chr22:20400132-21086225)x1 |
copy number loss |
See cases [RCV000133629] |
Chr22:20400132..21086225 [GRCh38] Chr22:20754422..21440514 [GRCh37] Chr22:19084422..19770514 [NCBI36] Chr22:22q11.21 |
conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 |
copy number gain |
See cases [RCV000134730] |
Chr22:16916743..50739785 [GRCh38] Chr22:17397633..51178213 [GRCh37] Chr22:15777633..49525079 [NCBI36] Chr22:22q11.1-13.33 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21107463)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(chr22:18178932-21151156)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 22q11.21-11.22(chr22:20671366-22088366)x3 |
copy number gain |
See cases [RCV000134888] |
Chr22:20671366..22088366 [GRCh38] Chr22:21025654..22442778 [GRCh37] Chr22:19355654..20772778 [NCBI36] Chr22:22q11.21-11.22 |
uncertain significance |
GRCh38/hg38 22q11.21(chr22:18145380-21086226)x1 |
copy number loss |
See cases [RCV000134837] |
Chr22:18145380..21086226 [GRCh38] Chr22:18628147..21440515 [GRCh37] Chr22:17008147..19770515 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18178957-21086225)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(chr22:20671366-21151128)x4 |
copy number gain |
See cases [RCV000135614] |
Chr22:20671366..21151128 [GRCh38] Chr22:21025654..21505417 [GRCh37] Chr22:19355654..19835417 [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(chr22:18339130-21151128)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(chr22:20354600-21207225)x3 |
copy number gain |
See cases [RCV000136542] |
Chr22:20354600..21207225 [GRCh38] Chr22:20708890..21561514 [GRCh37] Chr22:19038890..19891514 [NCBI36] Chr22:22q11.21 |
uncertain significance |
GRCh38/hg38 22q11.21(chr22:20400117-21086226)x1 |
copy number loss |
See cases [RCV000136039] |
Chr22:20400117..21086226 [GRCh38] Chr22:20754407..21440515 [GRCh37] Chr22:19084407..19770515 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21-11.23(chr22:20726972-24197852)x1 |
copy number loss |
See cases [RCV000136889] |
Chr22:20726972..24197852 [GRCh38] Chr22:21081260..24593820 [GRCh37] Chr22:19411260..22923820 [NCBI36] Chr22:22q11.21-11.23 |
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(chr22:18339130-21441926)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(chr22:18145252-21109830)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(chr22:20378147-21151128)x1 |
copy number loss |
See cases [RCV000138684] |
Chr22:20378147..21151128 [GRCh38] Chr22:20732437..21505417 [GRCh37] Chr22:19062437..19835417 [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(chr22:20812202-21053392)x3 |
copy number gain |
See cases [RCV000138791] |
Chr22:20812202..21053392 [GRCh38] Chr22:21166490..21407681 [GRCh37] Chr22:19496490..19737681 [NCBI36] Chr22:22q11.21 |
uncertain significance |
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(chr22:20375098-21111370)x3 |
copy number gain |
See cases [RCV000140073] |
Chr22:20375098..21111370 [GRCh38] Chr22:20729388..21465659 [GRCh37] Chr22:19059388..19795659 [NCBI36] Chr22:22q11.21 |
uncertain significance |
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(chr22:18178957-21107463)x3 |
copy number gain |
See cases [RCV000141416] |
Chr22:18178957..21107463 [GRCh38] Chr22:18661724..21461752 [GRCh37] Chr22:17041724..19791752 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21109830)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(chr22:20400132-21107463)x1 |
copy number loss |
See cases [RCV000140771] |
Chr22:20400132..21107463 [GRCh38] Chr22:20754422..21461752 [GRCh37] Chr22:19084422..19791752 [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 |
NM_058004.4(PI4KA):c.5137G>C (p.Asp1713His) |
single nucleotide variant |
PI4KA-related disorder [RCV004530215]|not provided [RCV003153477]|not specified [RCV000203065] |
Chr22:20718802 [GRCh38] Chr22:21073090 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh38/hg38 22q11.21(chr22:20540868-21020223)x3 |
copy number gain |
See cases [RCV000141594] |
Chr22:20540868..21020223 [GRCh38] Chr22:20895155..21374512 [GRCh37] Chr22:19225155..19704512 [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(chr22:20363364-21111373)x1 |
copy number loss |
See cases [RCV000142113] |
Chr22:20363364..21111373 [GRCh38] Chr22:20717654..21465662 [GRCh37] Chr22:19047654..19795662 [NCBI36] Chr22:22q11.21 |
uncertain significance|conflicting data from submitters |
GRCh38/hg38 22q11.21(chr22:20362587-21111370)x3 |
copy number gain |
See cases [RCV000142179] |
Chr22:20362587..21111370 [GRCh38] Chr22:20716877..21465659 [GRCh37] Chr22:19046877..19795659 [NCBI36] Chr22:22q11.21 |
uncertain significance |
GRCh38/hg38 22q11.21(chr22:20378147-21151128)x3 |
copy number gain |
See cases [RCV000142883] |
Chr22:20378147..21151128 [GRCh38] Chr22:20732437..21505417 [GRCh37] Chr22:19062437..19835417 [NCBI36] Chr22:22q11.21 |
uncertain significance |
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(chr22:18389245-21151128)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)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(chr22:18339130-21207225)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(chr22:20726972-21207225)x3 |
copy number gain |
See cases [RCV000148048] |
Chr22:20726972..21207225 [GRCh38] Chr22:21081260..21561514 [GRCh37] Chr22:19411260..19891514 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:20705381-21111370)x1 |
copy number loss |
See cases [RCV000143539] |
Chr22:20705381..21111370 [GRCh38] Chr22:21059669..21465659 [GRCh37] Chr22:19389669..19795659 [NCBI36] Chr22:22q11.21 |
uncertain significance |
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(chr22:20726972-21151128)x3 |
copy number gain |
See cases [RCV000148207] |
Chr22:20726972..21151128 [GRCh38] Chr22:21081260..21505417 [GRCh37] Chr22:19411260..19835417 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:20400132-21151128)x1 |
copy number loss |
See cases [RCV000148143] |
Chr22:20400132..21151128 [GRCh38] Chr22:20754422..21505417 [GRCh37] Chr22:19084422..19835417 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:20726972-21151128)x1 |
copy number loss |
See cases [RCV000148144] |
Chr22:20726972..21151128 [GRCh38] Chr22:21081260..21505417 [GRCh37] Chr22:19411260..19835417 [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(chr22:18339130-21086225)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(chr22:20400132-21151128)x3 |
copy number gain |
See cases [RCV000148138] |
Chr22:20400132..21151128 [GRCh38] Chr22:20754422..21505417 [GRCh37] Chr22:19084422..19835417 [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 |
NM_058004.4(PI4KA):c.912C>G (p.Ile304Met) |
single nucleotide variant |
Long QT syndrome [RCV000190239] |
Chr22:20813451 [GRCh38] Chr22:21167739 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21-11.23(chr22:20749625-23972878)x1 |
copy number loss |
See cases [RCV000240250] |
Chr22:20749625..23972878 [GRCh37] Chr22:22q11.21-11.23 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18894339-21440514)x1 |
copy number loss |
See cases [RCV000240142] |
Chr22:18894339..21440514 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_058004.4(PI4KA):c.421G>A (p.Asp141Asn) |
single nucleotide variant |
Long QT syndrome [RCV000190205] |
Chr22:20824361 [GRCh38] Chr22:21178649 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:18900442-21440514)x1 |
copy number loss |
See cases [RCV000240087] |
Chr22:18900442..21440514 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.1-11.21(chr22:17012935-21431054)x4 |
copy number gain |
See cases [RCV000258792] |
Chr22:17012935..21431054 [GRCh37] Chr22:22q11.1-11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:20958986-21440514)x3 |
copy number gain |
See cases [RCV000239800] |
Chr22:20958986..21440514 [GRCh37] Chr22:22q11.21 |
uncertain significance |
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(chr22:18916843-21915509)x1 |
copy number loss |
not provided [RCV002473950] |
Chr22:18916843..21915509 [GRCh37] Chr22:22q11.21 |
pathogenic |
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 22q11.1-13.33(chr22:16054691-51237518)x3 |
copy number gain |
See cases [RCV000240091] |
Chr22:16054691..51237518 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:21056165-21440514)x3 |
copy number gain |
See cases [RCV000240021] |
Chr22:21056165..21440514 [GRCh37] Chr22:22q11.21 |
uncertain significance |
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(chr22:21074920-21440514)x1 |
copy number loss |
See cases [RCV000240353] |
Chr22:21074920..21440514 [GRCh37] Chr22:22q11.21 |
likely 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(chr22:18889950-21466053)x1 |
copy number loss |
not provided [RCV001270642] |
Chr22:18889950..21466053 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_058004.4(PI4KA):c.4766C>A (p.Ala1589Glu) |
single nucleotide variant |
Tuberous sclerosis 1 [RCV004813351] |
Chr22:20727781 [GRCh38] Chr22:21082069 [GRCh37] |
uncertain significance |
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 |
NM_058004.4(PI4KA):c.973C>T (p.Pro325Ser) |
single nucleotide variant |
not provided [RCV003239199] |
Chr22:20813390 [GRCh38] Chr22:21167678 [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(chr22:18916842-21800471)x1 |
copy number loss |
See cases [RCV000449444] |
Chr22:18916842..21800471 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:21065882-21440455)x3 |
copy number gain |
See cases [RCV000449379] |
Chr22:21065882..21440455 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:21044196-21440455)x4 |
copy number gain |
See cases [RCV000449176] |
Chr22:21044196..21440455 [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(chr22:18916842-21465661)x1 |
copy number loss |
See cases [RCV000446325] |
Chr22:18916842..21465661 [GRCh37] Chr22:22q11.21 |
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(chr22:18970561-21465659)x3 |
copy number gain |
See cases [RCV000446476] |
Chr22:18970561..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:21059669-21461606)x1 |
copy number loss |
See cases [RCV000446362] |
Chr22:21059669..21461606 [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(chr22:18917047-21465659)x1 |
copy number loss |
See cases [RCV000446495] |
Chr22:18917047..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:21045809-21065882)x3 |
copy number gain |
See cases [RCV000446200] |
Chr22:21045809..21065882 [GRCh37] Chr22:22q11.21 |
benign |
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(chr22:21044808-21065882)x3 |
copy number gain |
See cases [RCV000447114] |
Chr22:21044808..21065882 [GRCh37] Chr22:22q11.21 |
benign |
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(chr22:18916842-21800797)x1 |
copy number loss |
See cases [RCV000446918] |
Chr22:18916842..21800797 [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(chr22:18636748-21465659)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(chr22:20725308-21465659)x3 |
copy number gain |
See cases [RCV000446738] |
Chr22:20725308..21465659 [GRCh37] Chr22:22q11.21 |
uncertain significance |
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 22q11.21(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 22q11.21-11.22(chr22:21029655-22481498)x1 |
copy number loss |
See cases [RCV000446664] |
Chr22:21029655..22481498 [GRCh37] Chr22:22q11.21-11.22 |
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(chr22:18916842-21915509)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 22q11.21-11.22(chr22:21025654-22336268)x3 |
copy number gain |
See cases [RCV000445877] |
Chr22:21025654..22336268 [GRCh37] Chr22:22q11.21-11.22 |
pathogenic |
NM_000185.4(SERPIND1):c.980A>C (p.Gln327Pro) |
single nucleotide variant |
not provided [RCV000440205]|not specified [RCV004022523] |
Chr22:20784062 [GRCh38] Chr22:21138350 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:20717654-21465659)x3 |
copy number gain |
See cases [RCV000445676] |
Chr22:20717654..21465659 [GRCh37] Chr22:22q11.21 |
conflicting data from submitters |
GRCh37/hg19 22q11.21(chr22:21049198-21065882)x3 |
copy number gain |
See cases [RCV000447886] |
Chr22:21049198..21065882 [GRCh37] Chr22:22q11.21 |
benign |
GRCh37/hg19 22q11.21(chr22:21060189-21465659)x3 |
copy number gain |
See cases [RCV000447895] |
Chr22:21060189..21465659 [GRCh37] Chr22:22q11.21 |
uncertain significance |
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 22q11.21(chr22:18916827-21465662)x1 |
copy number loss |
See cases [RCV000447793] |
Chr22:18916827..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(chr22:21055472-21065882)x3 |
copy number gain |
See cases [RCV000448343] |
Chr22:21055472..21065882 [GRCh37] Chr22:22q11.21 |
benign|likely benign |
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 |
NC_000022.10:g.(?_20721034)_(21460598_?)del |
deletion |
Schizophrenia [RCV000416918] |
Chr22:20721034..21460598 [GRCh37] Chr22:19051034..19790598 [NCBI36] Chr22:22q11.21 |
likely 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(chr22:21044196-21065882)x3 |
copy number gain |
See cases [RCV000448476] |
Chr22:21044196..21065882 [GRCh37] Chr22:22q11.21 |
benign |
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(chr22:18917047-21465659)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 |
NM_058004.4(PI4KA):c.2987+42A>G |
single nucleotide variant |
not specified [RCV000499738] |
Chr22:20752861 [GRCh38] Chr22:21107149 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:20716876-21465662)x1 |
copy number loss |
See cases [RCV000510715] |
Chr22:20716876..21465662 [GRCh37] Chr22:22q11.21 |
likely benign |
GRCh37/hg19 22q11.21-11.22(chr22:21029655-22481498)x1 |
copy number loss |
See cases [RCV000511898] |
Chr22:21029655..22481498 [GRCh37] Chr22:22q11.21-11.22 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:21059669-21465662)x1 |
copy number loss |
See cases [RCV000511667] |
Chr22:21059669..21465662 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:20728956-21465659)x3 |
copy number gain |
See cases [RCV000510753] |
Chr22:20728956..21465659 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:20725308-21465659)x3 |
copy number gain |
See cases [RCV000510990] |
Chr22:20725308..21465659 [GRCh37] Chr22:22q11.21 |
uncertain significance |
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(chr22:21081260-21431174) |
copy number gain |
Abnormality of the eye [RCV000626529] |
Chr22:21081260..21431174 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.3559C>T (p.Gln1187Ter) |
single nucleotide variant |
not provided [RCV000514115] |
Chr22:20742662 [GRCh38] Chr22:21096950 [GRCh37] Chr22:22q11.21 |
likely pathogenic |
NM_058004.4(PI4KA):c.2114G>A (p.Cys705Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003291192] |
Chr22:20796309 [GRCh38] Chr22:21150597 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_000185.4(SERPIND1):c.218G>A (p.Gly73Glu) |
single nucleotide variant |
not provided [RCV003239275] |
Chr22:20779530 [GRCh38] Chr22:21133818 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_000185.4(SERPIND1):c.1338C>A (p.Asn446Lys) |
single nucleotide variant |
Thrombus [RCV003313866] |
Chr22:20786904 [GRCh38] Chr22:21141192 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:18916842-21804716)x1 |
copy number loss |
See cases [RCV000512402] |
Chr22:18916842..21804716 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18644790-21465659)x3 |
copy number gain |
See cases [RCV000512387] |
Chr22:18644790..21465659 [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(chr22:18894835-21505417) |
copy number loss |
Ear malformation [RCV000626528] |
Chr22:18894835..21505417 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:20733495-21463730)x1 |
copy number loss |
See cases [RCV000663402] |
Chr22:20733495..21463730 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_058004.4(PI4KA):c.3496A>G (p.Met1166Val) |
single nucleotide variant |
not provided [RCV000658930] |
Chr22:20742725 [GRCh38] Chr22:21097013 [GRCh37] Chr22:22q11.21 |
uncertain significance |
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 22q11.21-11.23(chr22:20716876-23819697)x1 |
copy number loss |
not provided [RCV000684515] |
Chr22:20716876..23819697 [GRCh37] Chr22:22q11.21-11.23 |
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 22q11.21(chr22:18916842-21798907)x1 |
copy number loss |
not provided [RCV000684514] |
Chr22:18916842..21798907 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:21075675-21465662)x1 |
copy number loss |
not provided [RCV000684473] |
Chr22:21075675..21465662 [GRCh37] Chr22:22q11.21 |
pathogenic|likely pathogenic |
GRCh37/hg19 22q11.21(chr22:21049799-21465662)x1 |
copy number loss |
not provided [RCV000684476] |
Chr22:21049799..21465662 [GRCh37] Chr22:22q11.21 |
pathogenic|likely pathogenic |
GRCh37/hg19 22q11.21(chr22:20732808-21464764)x3 |
copy number gain |
not provided [RCV000684484] |
Chr22:20732808..21464764 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:20716876-21465662)x1 |
copy number loss |
not provided [RCV000684485] |
Chr22:20716876..21465662 [GRCh37] Chr22:22q11.21 |
pathogenic|likely pathogenic |
GRCh37/hg19 22q11.21(chr22:20716876-21798907)x1 |
copy number loss |
not provided [RCV000684489] |
Chr22:20716876..21798907 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:20311903-21465659)x1 |
copy number loss |
not provided [RCV000684490] |
Chr22:20311903..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:20311903-21800797)x1 |
copy number loss |
not provided [RCV000684498] |
Chr22:20311903..21800797 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_000185.4(SERPIND1):c.1409C>T (p.Thr470Ile) |
single nucleotide variant |
Deep venous thrombosis [RCV000852022] |
Chr22:20786975 [GRCh38] Chr22:21141263 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NC_000022.11:g.(?_18159879)_(21362822_?)del |
deletion |
Schizophrenia [RCV000754240] |
Chr22:18159879..21362822 [GRCh38] Chr22:22q11.21 |
pathogenic |
NC_000022.11:g.(?_18159879)_(21387988_?)del |
deletion |
Schizophrenia [RCV000754241] |
Chr22:18159879..21387988 [GRCh38] Chr22:22q11.21 |
pathogenic |
NC_000022.11:g.(?_18163926)_(21277123_?)del |
deletion |
Schizophrenia [RCV000754242] |
Chr22:18163926..21277123 [GRCh38] Chr22:22q11.21 |
pathogenic |
NC_000022.11:g.(?_18802709)_(21343709_?)del |
deletion |
Schizophrenia [RCV000754243] |
Chr22:18802709..21343709 [GRCh38] Chr22:22q11.21 |
pathogenic |
NC_000022.11:g.(?_18832909)_(21123588_?)del |
deletion |
Schizophrenia [RCV000754244] |
Chr22:18832909..21123588 [GRCh38] Chr22:22q11.21 |
pathogenic |
NC_000022.11:g.(?_18880919)_(21123588_?)del |
deletion |
Schizophrenia [RCV000754247] |
Chr22:18880919..21123588 [GRCh38] Chr22:22q11.21 |
pathogenic |
Single allele |
duplication |
Autism [RCV000754249] |
Chr22:18904453..21277123 [GRCh38] Chr22:22q11.21 |
pathogenic |
Single allele |
duplication |
Autism [RCV000754250] |
Chr22:19295635..21510330 [GRCh38] Chr22:22q11.21 |
pathogenic |
NC_000022.11:g.(?_20346735)_(21149007_?)del |
deletion |
Schizophrenia [RCV000754251] |
Chr22:20346735..21149007 [GRCh38] Chr22:22q11.21 |
likely pathogenic |
NC_000022.11:g.(?_20346735)_(21277123_?)del |
deletion |
Schizophrenia [RCV000754252] |
Chr22:20346735..21277123 [GRCh38] Chr22:22q11.21 |
likely pathogenic |
NC_000022.11:g.(?_20358985)_(21123588_?)del |
deletion |
Schizophrenia [RCV000754253] |
Chr22:20358985..21123588 [GRCh38] Chr22:22q11.21 |
likely pathogenic |
NC_000022.11:g.(?_18846939)_(21221413_?)del |
deletion |
Schizophrenia [RCV000754245] |
Chr22:18846939..21221413 [GRCh38] Chr22:22q11.21 |
pathogenic |
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 22q11.21(chr22:18886915-21467387)x1 |
copy number loss |
not provided [RCV000741741] |
Chr22:18886915..21467387 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18889490-21466715)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(chr22:19016663-21463730)x1 |
copy number loss |
not provided [RCV000741747] |
Chr22:19016663..21463730 [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(chr22:20711589-21465050)x3 |
copy number gain |
not provided [RCV000741762] |
Chr22:20711589..21465050 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:20733495-21463730)x1 |
copy number loss |
not provided [RCV000741764] |
Chr22:20733495..21463730 [GRCh37] Chr22:22q11.21 |
likely benign |
GRCh37/hg19 22q11.21(chr22:20733495-21467387)x3 |
copy number gain |
not provided [RCV000741765] |
Chr22:20733495..21467387 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:20796175-21608479)x1 |
copy number loss |
not provided [RCV000741766] |
Chr22:20796175..21608479 [GRCh37] Chr22:22q11.21 |
benign |
GRCh37/hg19 22q11.21(chr22:21012096-21139955)x3 |
copy number gain |
not provided [RCV000741772] |
Chr22:21012096..21139955 [GRCh37] Chr22:22q11.21 |
benign |
GRCh37/hg19 22q11.21(chr22:21061667-21465050)x1 |
copy number loss |
not provided [RCV000741773] |
Chr22:21061667..21465050 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:21062168-21463730)x1 |
copy number loss |
not provided [RCV000741774] |
Chr22:21062168..21463730 [GRCh37] Chr22:22q11.21 |
likely benign |
GRCh37/hg19 22q11.21(chr22:21091815-21462353)x3 |
copy number gain |
not provided [RCV000741775] |
Chr22:21091815..21462353 [GRCh37] Chr22:22q11.21 |
benign |
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_058004.4(PI4KA):c.2708+187A>C |
single nucleotide variant |
not provided [RCV001680133] |
Chr22:20764630 [GRCh38] Chr22:21118918 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.1820+76G>A |
single nucleotide variant |
not provided [RCV001612570] |
Chr22:20799595 [GRCh38] Chr22:21153883 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.5923+41del |
deletion |
not provided [RCV001709096] |
Chr22:20711300 [GRCh38] Chr22:21065588 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.6173+244A>C |
single nucleotide variant |
not provided [RCV001534451] |
Chr22:20709664 [GRCh38] Chr22:21063952 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.5596G>A (p.Asp1866Asn) |
single nucleotide variant |
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV002485975]|not provided [RCV000762048] |
Chr22:20712773 [GRCh38] Chr22:21067061 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:18636749-21800471)x1 |
copy number loss |
Velocardiofacial syndrome [RCV000788059] |
Chr22:18636749..21800471 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_004782.4(SNAP29):c.18A>G (p.Lys6=) |
single nucleotide variant |
CEDNIK syndrome [RCV000342922]|not provided [RCV000713380]|not specified [RCV000444231] |
Chr22:20859128 [GRCh38] Chr22:21213416 [GRCh37] Chr22:22q11.21 |
benign|no classifications from unflagged records |
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 |
NM_058004.4(PI4KA):c.2987+38A>G |
single nucleotide variant |
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001788710]|not provided [RCV001663055]|not specified [RCV003487622] |
Chr22:20752865 [GRCh38] Chr22:21107153 [GRCh37] Chr22:22q11.21 |
benign |
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(chr22:18912231-21465672)x1 |
copy number loss |
Velocardiofacial syndrome [RCV000788056] |
Chr22:18912231..21465672 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_058004.4(PI4KA):c.5462-306C>A |
single nucleotide variant |
not provided [RCV001608852] |
Chr22:20713696 [GRCh38] Chr22:21067984 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.4773+29G>A |
single nucleotide variant |
not provided [RCV001679099] |
Chr22:20727745 [GRCh38] Chr22:21082033 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.3364-289A>G |
single nucleotide variant |
not provided [RCV001612459] |
Chr22:20745009 [GRCh38] Chr22:21099297 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.2665A>G (p.Met889Val) |
single nucleotide variant |
not provided [RCV000997866] |
Chr22:20764860 [GRCh38] Chr22:21119148 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_000185.4(SERPIND1):c.941G>C (p.Arg314Pro) |
single nucleotide variant |
not provided [RCV000997869] |
Chr22:20784023 [GRCh38] Chr22:21138311 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_000185.4(SERPIND1):c.1058T>A (p.Ile353Asn) |
single nucleotide variant |
not provided [RCV000997870] |
Chr22:20784140 [GRCh38] Chr22:21138428 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.529+29A>G |
single nucleotide variant |
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001788627]|not provided [RCV001609807] |
Chr22:20820510 [GRCh38] Chr22:21174798 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.457-23T>C |
single nucleotide variant |
not provided [RCV001609830] |
Chr22:20820634 [GRCh38] Chr22:21174922 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.856+273A>G |
single nucleotide variant |
not provided [RCV001681589] |
Chr22:20818210 [GRCh38] Chr22:21172498 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.3033G>C (p.Leu1011=) |
single nucleotide variant |
PI4KA-related disorder [RCV004543624]|not provided [RCV000967581] |
Chr22:20751710 [GRCh38] Chr22:21105998 [GRCh37] Chr22:22q11.21 |
benign|likely benign |
NM_000185.4(SERPIND1):c.1164-5T>C |
single nucleotide variant |
SERPIND1-related disorder [RCV003940433]|not provided [RCV000881686] |
Chr22:20785999 [GRCh38] Chr22:21140287 [GRCh37] Chr22:22q11.21 |
benign|likely benign |
NM_058004.4(PI4KA):c.3154-4C>T |
single nucleotide variant |
not provided [RCV000982980] |
Chr22:20749998 [GRCh38] Chr22:21104286 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_058004.4(PI4KA):c.3840G>A (p.Ser1280=) |
single nucleotide variant |
not provided [RCV000948114] |
Chr22:20734455 [GRCh38] Chr22:21088743 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.24AGGCGG[6] (p.Gly15_Gly18dup) |
microsatellite |
not provided [RCV000948115] |
Chr22:20858678..20858679 [GRCh38] Chr22:21212966..21212967 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.6036C>T (p.Pro2012=) |
single nucleotide variant |
not provided [RCV000966267] |
Chr22:20710746 [GRCh38] Chr22:21065034 [GRCh37] Chr22:22q11.21 |
benign|likely benign |
NM_058004.4(PI4KA):c.24AGGCGG[3] (p.Gly17_Gly18del) |
microsatellite |
not provided [RCV000882073]|not specified [RCV001817076] |
Chr22:20858679..20858684 [GRCh38] Chr22:21212967..21212972 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.24AGGCGG[5] (p.Gly18_Cys19insGlyGly) |
microsatellite |
not provided [RCV000968791]|not specified [RCV001819086] |
Chr22:20858678..20858679 [GRCh38] Chr22:21212966..21212967 [GRCh37] Chr22:22q11.21 |
benign |
NM_000185.4(SERPIND1):c.231C>A (p.Asp77Glu) |
single nucleotide variant |
Heparin cofactor II deficiency [RCV002222057]|not provided [RCV000970762] |
Chr22:20779543 [GRCh38] Chr22:21133831 [GRCh37] Chr22:22q11.21 |
benign|uncertain significance |
NM_058004.4(PI4KA):c.508G>C (p.Ala170Pro) |
single nucleotide variant |
Esophageal atresia [RCV000984668] |
Chr22:20820560 [GRCh38] Chr22:21174848 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NC_000022.10:g.(?_21067569)_(21414817_?)del |
deletion |
not provided [RCV001031466] |
Chr22:21067569..21414817 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18650745-21460220) |
copy number gain |
Chromosome 22q11.2 microduplication syndrome [RCV000767592] |
Chr22:18650745..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 |
NM_058004.4(PI4KA):c.3449C>T (p.Ala1150Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003246501] |
Chr22:20744635 [GRCh38] Chr22:21098923 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.156+5C>G |
single nucleotide variant |
PI4KA-related disorder [RCV004538937]|not provided [RCV003312553] |
Chr22:20858565 [GRCh38] Chr22:21212853 [GRCh37] Chr22:22q11.21 |
benign|likely benign |
GRCh37/hg19 22q11.21(chr22:18900755-21800277) |
copy number loss |
DiGeorge syndrome [RCV000767747] |
Chr22:18900755..21800277 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_058004.4(PI4KA):c.2386del (p.Arg796fs) |
deletion |
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001089953] |
Chr22:20765636 [GRCh38] Chr22:21119924 [GRCh37] Chr22:22q11.21 |
likely 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(chr22:18609712-21408430) |
copy number gain |
Chromosome 22q11.2 microduplication syndrome [RCV000767590] |
Chr22:18609712..21408430 [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(chr22:18650803-21460220) |
copy number gain |
Chromosome 22q11.2 microduplication syndrome [RCV000767593] |
Chr22:18650803..21460220 [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 loss |
DiGeorge syndrome [RCV000767692] |
Chr22:18892575..21460220 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_000185.4(SERPIND1):c.467T>C (p.Val156Ala) |
single nucleotide variant |
not provided [RCV000906698] |
Chr22:20779779 [GRCh38] Chr22:20779779..20779780 [GRCh38] Chr22:21134067 [GRCh37] Chr22:21134067..21134068 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.3591C>T (p.Thr1197=) |
single nucleotide variant |
not provided [RCV000903991] |
Chr22:20742630 [GRCh38] Chr22:21096918 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_058004.4(PI4KA):c.5511C>T (p.Ala1837=) |
single nucleotide variant |
not provided [RCV000886553] |
Chr22:20713341 [GRCh38] Chr22:21067629 [GRCh37] Chr22:22q11.21 |
likely benign |
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(chr22:18923898-21431174) |
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 gain |
Chromosome 22q11.2 microduplication syndrome [RCV000767596] |
Chr22:18892575..21460220 [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 |
Single allele |
deletion |
Abnormal bleeding [RCV000852267] |
Chr22:19709400..21142058 [GRCh37] Chr22:22q11.21 |
likely pathogenic |
NM_058004.4(PI4KA):c.6099G>A (p.Ala2033=) |
single nucleotide variant |
not provided [RCV000960088] |
Chr22:20709982 [GRCh38] Chr22:21064270 [GRCh37] Chr22:22q11.21 |
benign|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 |
NM_000185.4(SERPIND1):c.1235T>C (p.Met412Thr) |
single nucleotide variant |
not provided [RCV000997871] |
Chr22:20786075 [GRCh38] Chr22:21140363 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:21033397-21465659)x3 |
copy number gain |
not provided [RCV000848285] |
Chr22:21033397..21465659 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:20716876-21800471)x1 |
copy number loss |
22q11.2 central deletion syndrome [RCV000788066] |
Chr22:20716876..21800471 [GRCh37] Chr22:22q11.21 |
likely pathogenic |
GRCh37/hg19 22q11.21(chr22:20717654-21465662)x3 |
copy number gain |
not provided [RCV000848729] |
Chr22:20717654..21465662 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:21058887-21465659)x3 |
copy number gain |
not provided [RCV000849879] |
Chr22:21058887..21465659 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:21062566-21463730)x1 |
copy number loss |
See cases [RCV000790588] |
Chr22:21062566..21463730 [GRCh37] Chr22:22q11.21 |
likely pathogenic |
GRCh37/hg19 22q11.21(chr22:20716876-21800471)x1 |
copy number loss |
22q11.2 central deletion syndrome [RCV000788067] |
Chr22:20716876..21800471 [GRCh37] Chr22:22q11.21 |
likely pathogenic |
GRCh37/hg19 22q11.21(chr22:20921342-21459713)x1 |
copy number loss |
22q11.2 central deletion syndrome [RCV000788068] |
Chr22:20921342..21459713 [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(chr22:18889490-21917190)x1 |
copy number loss |
See cases [RCV000790601] |
Chr22:18889490..21917190 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:20729388-21465662)x1 |
copy number loss |
not provided [RCV000849720] |
Chr22:20729388..21465662 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:20728956-21465662)x3 |
copy number gain |
not provided [RCV000845862] |
Chr22:20728956..21465662 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:20978976-21129436)x3 |
copy number gain |
not provided [RCV000847581] |
Chr22:20978976..21129436 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:21033397-21465662)x3 |
copy number gain |
not provided [RCV001007172] |
Chr22:21033397..21465662 [GRCh37] Chr22:22q11.21 |
uncertain significance |
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 |
Single allele |
deletion |
Neurodevelopmental disorder [RCV000787412] |
Chr22:18890264..21540347 [GRCh37] Chr22:22q11.21 |
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(chr22:21059669-21800471)x1 |
copy number loss |
22q11.2 central deletion syndrome [RCV000788069] |
Chr22:21059669..21800471 [GRCh37] Chr22:22q11.21 |
likely pathogenic |
NM_000185.4(SERPIND1):c.260G>A (p.Ser87Asn) |
single nucleotide variant |
not provided [RCV000962863] |
Chr22:20779572 [GRCh38] Chr22:21133860 [GRCh37] Chr22:22q11.21 |
benign |
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(chr22:19819477-21464764)x3 |
copy number gain |
Chromosome 22q11.2 microduplication syndrome [RCV000788064] |
Chr22:19819477..21464764 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:21033586-21800471)x1 |
copy number loss |
22q11.2 central deletion syndrome [RCV000788065] |
Chr22:21033586..21800471 [GRCh37] Chr22:22q11.21 |
likely pathogenic |
GRCh37/hg19 22q11.21(chr22:20992308-21464764)x3 |
copy number gain |
22q11.2 central duplication syndrome [RCV000788070] |
Chr22:20992308..21464764 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:20729388-21454872)x3 |
copy number gain |
22q11.2 central duplication syndrome [RCV000788071] |
Chr22:20729388..21454872 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:21062168-21463730)x1 |
copy number loss |
See cases [RCV001194551] |
Chr22:21062168..21463730 [GRCh37] Chr22:22q11.21 |
likely pathogenic |
GRCh37/hg19 22q11.21(chr22:21029655-21140787)x3 |
copy number gain |
not provided [RCV000846211] |
Chr22:21029655..21140787 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:20732808-21465659)x3 |
copy number gain |
not provided [RCV000846336] |
Chr22:20732808..21465659 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:20716876-21465659)x1 |
copy number loss |
not provided [RCV000847762] |
Chr22:20716876..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_000185.4(SERPIND1):c.842T>C (p.Ile281Thr) |
single nucleotide variant |
SERPIND1-related disorder [RCV003928652]|not provided [RCV000997868] |
Chr22:20780154 [GRCh38] Chr22:21134442 [GRCh37] Chr22:22q11.21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 22q11.21-11.22(chr22:21029655-22481498)x1 |
copy number loss |
not provided [RCV001007171] |
Chr22:21029655..22481498 [GRCh37] Chr22:22q11.21-11.22 |
pathogenic |
NM_000185.4(SERPIND1):c.1333G>C (p.Val445Leu) |
single nucleotide variant |
SERPIND1-related disorder [RCV004757278]|Thrombotic stroke [RCV000851682] |
Chr22:20786899 [GRCh38] Chr22:21141187 [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 |
NM_058004.4(PI4KA):c.407T>C (p.Val136Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003289901] |
Chr22:20824375 [GRCh38] Chr22:21178663 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:18893888-21481925)x1 |
copy number loss |
not provided [RCV003312569] |
Chr22:18893888..21481925 [GRCh37] Chr22:22q11.21 |
pathogenic |
Single allele |
deletion |
Deep venous thrombosis [RCV000852271] |
Chr22:19710418..21142058 [GRCh37] Chr22:22q11.21 |
likely pathogenic |
NM_000185.4(SERPIND1):c.1147A>T (p.Lys383Ter) |
single nucleotide variant |
Hemorrhage [RCV003313851] |
Chr22:20784229 [GRCh38] Chr22:21138517 [GRCh37] Chr22:22q11.21 |
likely pathogenic |
NC_000022.11:g.18948676_21110520dup |
duplication |
Chromosome 22q11.2 microduplication syndrome [RCV003313910] |
Chr22:18948676..21110520 [GRCh38] Chr22:22q11.21 |
pathogenic |
NM_058004.4(PI4KA):c.4773+98G>A |
single nucleotide variant |
not provided [RCV001643667]|not specified [RCV003487576] |
Chr22:20727676 [GRCh38] Chr22:21081964 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.5907T>C (p.Gly1969=) |
single nucleotide variant |
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001788700]|not provided [RCV001657329] |
Chr22:20711357 [GRCh38] Chr22:21065645 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.2108+142A>G |
single nucleotide variant |
not provided [RCV001666196] |
Chr22:20798442 [GRCh38] Chr22:21152730 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.3120G>C (p.Arg1040=) |
single nucleotide variant |
not provided [RCV001655132] |
Chr22:20751326 [GRCh38] Chr22:21105614 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.1005+38_1005+40dup |
duplication |
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001788601]|not provided [RCV001608351]|not specified [RCV003487507] |
Chr22:20813317..20813318 [GRCh38] Chr22:21167605..21167606 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.274-21A>G |
single nucleotide variant |
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001788764]|not provided [RCV001684803] |
Chr22:20834676 [GRCh38] Chr22:21188964 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.4160+164C>A |
single nucleotide variant |
not provided [RCV001715801] |
Chr22:20733572 [GRCh38] Chr22:21087860 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.2988-12C>T |
single nucleotide variant |
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001788829]|not provided [RCV001715803] |
Chr22:20751767 [GRCh38] Chr22:21106055 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.5924-55T>C |
single nucleotide variant |
not provided [RCV001715805] |
Chr22:20710913 [GRCh38] Chr22:21065201 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.3033G>A (p.Leu1011=) |
single nucleotide variant |
PI4KA-related disorder [RCV004536267]|not provided [RCV001715808] |
Chr22:20751710 [GRCh38] Chr22:21105998 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.4995+228G>T |
single nucleotide variant |
not provided [RCV001534751] |
Chr22:20726260 [GRCh38] Chr22:21080548 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.5390+38G>A |
single nucleotide variant |
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001788647]|not provided [RCV001638341]|not specified [RCV003487553] |
Chr22:20714590 [GRCh38] Chr22:21068878 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.6258-311C>T |
single nucleotide variant |
not provided [RCV001707164] |
Chr22:20708409 [GRCh38] Chr22:21062697 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.3742-168G>A |
single nucleotide variant |
not provided [RCV001688855] |
Chr22:20734721 [GRCh38] Chr22:21089009 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.530-211A>G |
single nucleotide variant |
not provided [RCV001684875] |
Chr22:20820111 [GRCh38] Chr22:21174399 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.3456+181del |
deletion |
not provided [RCV001696678] |
Chr22:20744447 [GRCh38] Chr22:21098735 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.2328+13650G>A |
single nucleotide variant |
not provided [RCV001685866] |
Chr22:20779543 [GRCh38] Chr22:21133831 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.5461+209C>T |
single nucleotide variant |
not provided [RCV001595568] |
Chr22:20714249 [GRCh38] Chr22:21068537 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.5318-71T>A |
single nucleotide variant |
not provided [RCV001620855] |
Chr22:20714771 [GRCh38] Chr22:21069059 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.6173+220_6173+221insTA |
insertion |
not provided [RCV001677118] |
Chr22:20709687..20709688 [GRCh38] Chr22:21063975..21063976 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.3742-149A>G |
single nucleotide variant |
not provided [RCV001715432] |
Chr22:20734702 [GRCh38] Chr22:21088990 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.1002C>T (p.Asn334=) |
single nucleotide variant |
not provided [RCV000879200] |
Chr22:20813361 [GRCh38] Chr22:21167649 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.1893G>A (p.Pro631=) |
single nucleotide variant |
not provided [RCV000969974] |
Chr22:20799204 [GRCh38] Chr22:21153492 [GRCh37] Chr22:22q11.21 |
benign|likely benign |
NM_058004.4(PI4KA):c.5676+8C>G |
single nucleotide variant |
not provided [RCV000967892] |
Chr22:20712685 [GRCh38] Chr22:21066973 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_058004.4(PI4KA):c.4672C>T (p.Leu1558=) |
single nucleotide variant |
PI4KA-related disorder [RCV004533482]|Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001336865]|not provided [RCV000909303] |
Chr22:20729323 [GRCh38] Chr22:21083611 [GRCh37] Chr22:22q11.21 |
benign|likely benign|uncertain significance |
NM_058004.4(PI4KA):c.4368C>T (p.Tyr1456=) |
single nucleotide variant |
PI4KA-related disorder [RCV004533483]|Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001336864]|not provided [RCV000909304] |
Chr22:20729932 [GRCh38] Chr22:21084220 [GRCh37] Chr22:22q11.21 |
benign|likely benign|uncertain significance |
NM_058004.4(PI4KA):c.5235G>A (p.Ser1745=) |
single nucleotide variant |
not provided [RCV000974374] |
Chr22:20718704 [GRCh38] Chr22:21072992 [GRCh37] Chr22:22q11.21 |
benign|likely benign |
NM_058004.4(PI4KA):c.5229C>T (p.Asn1743=) |
single nucleotide variant |
not provided [RCV000892718] |
Chr22:20718710 [GRCh38] Chr22:21072998 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.4266C>T (p.Thr1422=) |
single nucleotide variant |
not provided [RCV000892719] |
Chr22:20732993 [GRCh38] Chr22:21087281 [GRCh37] Chr22:22q11.21 |
benign|likely benign |
NM_058004.4(PI4KA):c.6174-5C>T |
single nucleotide variant |
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001788384]|not provided [RCV000948113] |
Chr22:20709384 [GRCh38] Chr22:21063672 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.5955C>T (p.Gly1985=) |
single nucleotide variant |
not provided [RCV000972990] |
Chr22:20710827 [GRCh38] Chr22:21065115 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_058004.4(PI4KA):c.42_53del (p.Gly15_Gly18del) |
deletion |
not provided [RCV000972991]|not specified [RCV001819129] |
Chr22:20858673..20858684 [GRCh38] Chr22:21212961..21212972 [GRCh37] Chr22:22q11.21 |
benign|likely benign |
NM_058004.4(PI4KA):c.1227G>C (p.Thr409=) |
single nucleotide variant |
not provided [RCV000894581] |
Chr22:20805107 [GRCh38] Chr22:21159395 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_058004.4(PI4KA):c.5117-171G>A |
single nucleotide variant |
not provided [RCV001665226] |
Chr22:20718993 [GRCh38] Chr22:21073281 [GRCh37] Chr22:22q11.21 |
benign |
GRCh37/hg19 22q11.21(chr22:20728956-21465662)x3 |
copy number gain |
Oppositional defiant disorder [RCV001030055] |
Chr22:20728956..21465662 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.6173+76C>T |
single nucleotide variant |
not provided [RCV001539604] |
Chr22:20709832 [GRCh38] Chr22:21064120 [GRCh37] Chr22:22q11.21 |
benign |
NM_000185.4(SERPIND1):c.132G>A (p.Gln44=) |
single nucleotide variant |
not provided [RCV000997867] |
Chr22:20779444 [GRCh38] Chr22:21133732 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_058004.4(PI4KA):c.5676+4A>G |
single nucleotide variant |
not provided [RCV000958173] |
Chr22:20712689 [GRCh38] Chr22:21066977 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.4380C>T (p.Ser1460=) |
single nucleotide variant |
not provided [RCV000958174] |
Chr22:20729920 [GRCh38] Chr22:21084208 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.5595C>T (p.Ile1865=) |
single nucleotide variant |
not provided [RCV000889865] |
Chr22:20712774 [GRCh38] Chr22:21067062 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_058004.4(PI4KA):c.3244-215dup |
duplication |
not provided [RCV001718407] |
Chr22:20747909..20747910 [GRCh38] Chr22:21102197..21102198 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.2791+49G>T |
single nucleotide variant |
not provided [RCV001597887] |
Chr22:20761255 [GRCh38] Chr22:21115543 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.5677-37G>A |
single nucleotide variant |
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001788699]|not provided [RCV001657322]|not specified [RCV003487620] |
Chr22:20712648 [GRCh38] Chr22:21066936 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.4160+263C>T |
single nucleotide variant |
not provided [RCV001621536] |
Chr22:20733473 [GRCh38] Chr22:21087761 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.1687G>T (p.Glu563Ter) |
single nucleotide variant |
PI4KA-related disorder [RCV004529148] |
Chr22:20802010 [GRCh38] Chr22:21156298 [GRCh37] Chr22:22q11.21 |
likely pathogenic |
GRCh37/hg19 22q11.21(chr22:19647905-21153690)x1 |
copy number loss |
not provided [RCV002472681] |
Chr22:19647905..21153690 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_058004.4(PI4KA):c.1168+86C>G |
single nucleotide variant |
not provided [RCV001636213] |
Chr22:20807276 [GRCh38] Chr22:21161564 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.2277+94A>G |
single nucleotide variant |
not provided [RCV001636233]|not specified [RCV003487564] |
Chr22:20796052 [GRCh38] Chr22:21150340 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.1461+158_1461+159insGTG |
insertion |
not provided [RCV001689393] |
Chr22:20804141..20804142 [GRCh38] Chr22:21158429..21158430 [GRCh37] Chr22:22q11.21 |
benign |
GRCh37/hg19 22q11.21(chr22:18648867-21798907)x3 |
copy number gain |
not provided [RCV002473937] |
Chr22:18648867..21798907 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:21188487-21804597)x1 |
copy number loss |
not provided [RCV002473928] |
Chr22:21188487..21804597 [GRCh37] Chr22:22q11.21 |
likely pathogenic |
GRCh37/hg19 22q11.21(chr22:21022257-21302080)x3 |
copy number gain |
not provided [RCV001007170] |
Chr22:21022257..21302080 [GRCh37] Chr22:22q11.21 |
uncertain significance |
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 |
NM_058004.4(PI4KA):c.1821-26G>A |
single nucleotide variant |
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001788775]|not provided [RCV001687560]|not specified [RCV003487694] |
Chr22:20799302 [GRCh38] Chr22:21153590 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.5676+39C>A |
single nucleotide variant |
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001788698]|not provided [RCV001657231] |
Chr22:20712654 [GRCh38] Chr22:21066942 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.1725-228G>T |
single nucleotide variant |
not provided [RCV001619498] |
Chr22:20799994 [GRCh38] Chr22:21154282 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.5461+87T>C |
single nucleotide variant |
not provided [RCV001597561] |
Chr22:20714371 [GRCh38] Chr22:21068659 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.1820+190dup |
duplication |
not provided [RCV001620057] |
Chr22:20799479..20799480 [GRCh38] Chr22:21153767..21153768 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.5787T>C (p.Thr1929=) |
single nucleotide variant |
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001788584]|not provided [RCV001536788]|not specified [RCV003487438] |
Chr22:20712501 [GRCh38] Chr22:21066789 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.157-272C>T |
single nucleotide variant |
not provided [RCV001717945] |
Chr22:20839003 [GRCh38] Chr22:21193291 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.156+142C>T |
single nucleotide variant |
not provided [RCV001685226] |
Chr22:20858428 [GRCh38] Chr22:21212716 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.2328+188T>C |
single nucleotide variant |
not provided [RCV001595981] |
Chr22:20793005 [GRCh38] Chr22:21147293 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.6173+139G>A |
single nucleotide variant |
not provided [RCV001676174] |
Chr22:20709769 [GRCh38] Chr22:21064057 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.3153+225C>T |
single nucleotide variant |
not provided [RCV001677585] |
Chr22:20751068 [GRCh38] Chr22:21105356 [GRCh37] Chr22:22q11.21 |
benign |
NM_004782.4(SNAP29):c.-19C>T |
single nucleotide variant |
CEDNIK syndrome [RCV000282177]|not provided [RCV001672608]|not specified [RCV000433662] |
Chr22:20859092 [GRCh38] Chr22:21213380 [GRCh37] Chr22:22q11.21 |
benign|no classifications from unflagged records |
NM_058004.4(PI4KA):c.1591+287G>A |
single nucleotide variant |
not provided [RCV001696553] |
Chr22:20802904 [GRCh38] Chr22:21157192 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.156+202A>G |
single nucleotide variant |
not provided [RCV001657575] |
Chr22:20858368 [GRCh38] Chr22:21212656 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.456+150C>T |
single nucleotide variant |
not provided [RCV001678531] |
Chr22:20824176 [GRCh38] Chr22:21178464 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.2708+285G>A |
single nucleotide variant |
not provided [RCV001661214] |
Chr22:20764532 [GRCh38] Chr22:21118820 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.5116+49T>G |
single nucleotide variant |
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001788797]|not provided [RCV001693744]|not specified [RCV003487721] |
Chr22:20721249 [GRCh38] Chr22:21075537 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.157-173G>A |
single nucleotide variant |
not provided [RCV001654042] |
Chr22:20838904 [GRCh38] Chr22:21193192 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.6258-180C>T |
single nucleotide variant |
not provided [RCV001676772] |
Chr22:20708278 [GRCh38] Chr22:21062566 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.5462-128G>C |
single nucleotide variant |
not provided [RCV001676980] |
Chr22:20713518 [GRCh38] Chr22:21067806 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.1361-191A>T |
single nucleotide variant |
not provided [RCV001715794] |
Chr22:20804591 [GRCh38] Chr22:21158879 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.367+118G>T |
single nucleotide variant |
not provided [RCV001678276] |
Chr22:20834444 [GRCh38] Chr22:21188732 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.5391-34A>C |
single nucleotide variant |
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001788646]|not provided [RCV001638322] |
Chr22:20714562 [GRCh38] Chr22:21068850 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.4053-15G>C |
single nucleotide variant |
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001788595]|not provided [RCV001598913]|not specified [RCV003487499] |
Chr22:20733858 [GRCh38] Chr22:21088146 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.6258-293C>T |
single nucleotide variant |
not provided [RCV001595362] |
Chr22:20708391 [GRCh38] Chr22:21062679 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.2329-14T>A |
single nucleotide variant |
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001788678]|not provided [RCV001656565] |
Chr22:20765707 [GRCh38] Chr22:21119995 [GRCh37] Chr22:22q11.21 |
benign |
Single allele |
deletion |
Inherited Immunodeficiency Diseases [RCV001027643] |
Chr22:18789965..21591197 [GRCh37] Chr22:22q11.21 |
likely 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 22q11.1-12.1(chr22:16888899-27657507)x3 |
copy number gain |
not provided [RCV001007163] |
Chr22:16888899..27657507 [GRCh37] Chr22:22q11.1-12.1 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18844632-21797812)x1 |
copy number loss |
See cases [RCV001194550] |
Chr22:18844632..21797812 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_000185.4(SERPIND1):c.240G>A (p.Leu80=) |
single nucleotide variant |
not provided [RCV001092751] |
Chr22:20779552 [GRCh38] Chr22:21133840 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_058004.4(PI4KA):c.457-282G>C |
single nucleotide variant |
not provided [RCV001666803] |
Chr22:20820893 [GRCh38] Chr22:21175181 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.5481C>T (p.Asp1827=) |
single nucleotide variant |
not provided [RCV001684137] |
Chr22:20713371 [GRCh38] Chr22:21067659 [GRCh37] Chr22:22q11.21 |
benign |
Single allele |
deletion |
DiGeorge syndrome [RCV001003853] |
Chr22:18475385..23764120 [GRCh37] Chr22:22q11.21-11.23 |
pathogenic |
NM_058004.4(PI4KA):c.1461+157del |
deletion |
not provided [RCV001714751] |
Chr22:20804143 [GRCh38] Chr22:21158431 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.5679C>T (p.Cys1893=) |
single nucleotide variant |
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001788816]|not provided [RCV001709794] |
Chr22:20712609 [GRCh38] Chr22:21066897 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.2792-236C>T |
single nucleotide variant |
not provided [RCV001644121] |
Chr22:20753416 [GRCh38] Chr22:21107704 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.4161-242G>A |
single nucleotide variant |
not provided [RCV001609190] |
Chr22:20733340 [GRCh38] Chr22:21087628 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.*67C>A |
single nucleotide variant |
not provided [RCV001667315] |
Chr22:20707980 [GRCh38] Chr22:21062268 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.5117-12C>T |
single nucleotide variant |
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001788730]|not provided [RCV001667370]|not specified [RCV003487653] |
Chr22:20718834 [GRCh38] Chr22:21073122 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.2108+304G>A |
single nucleotide variant |
not provided [RCV001685334] |
Chr22:20798280 [GRCh38] Chr22:21152568 [GRCh37] Chr22:22q11.21 |
benign |
GRCh37/hg19 22q11.21(chr22:21059669-21202765)x3 |
copy number gain |
not provided [RCV001007173] |
Chr22:21059669..21202765 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.864C>T (p.Cys288=) |
single nucleotide variant |
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001788628]|not provided [RCV001609825]|not specified [RCV003487536] |
Chr22:20813499 [GRCh38] Chr22:21167787 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.3457-292C>T |
single nucleotide variant |
not provided [RCV001709066] |
Chr22:20743056 [GRCh38] Chr22:21097344 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.2988-98A>G |
single nucleotide variant |
not provided [RCV001612683] |
Chr22:20751853 [GRCh38] Chr22:21106141 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.5462-301G>C |
single nucleotide variant |
not provided [RCV001643263] |
Chr22:20713691 [GRCh38] Chr22:21067979 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.6084-71T>G |
single nucleotide variant |
not provided [RCV001679437]|not specified [RCV003487692] |
Chr22:20710068 [GRCh38] Chr22:21064356 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.1839C>A (p.Pro613=) |
single nucleotide variant |
not provided [RCV001531369] |
Chr22:20799258 [GRCh38] Chr22:21153546 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_058004.4(PI4KA):c.5246+325T>C |
single nucleotide variant |
not provided [RCV001693057] |
Chr22:20718368 [GRCh38] Chr22:21072656 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.6173+200G>A |
single nucleotide variant |
not provided [RCV001710155] |
Chr22:20709708 [GRCh38] Chr22:21063996 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.3457-188dup |
duplication |
not provided [RCV001670095] |
Chr22:20742939..20742940 [GRCh38] Chr22:21097227..21097228 [GRCh37] Chr22:22q11.21 |
benign |
GRCh37/hg19 22q11.21(chr22:21069073-21463730)x1 |
copy number loss |
See cases [RCV001194549] |
Chr22:21069073..21463730 [GRCh37] Chr22:22q11.21 |
likely 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 |
NM_000185.4(SERPIND1):c.220dup (p.Glu74fs) |
duplication |
Heparin cofactor II deficiency [RCV001195743] |
Chr22:20779527..20779528 [GRCh38] Chr22:21133815..21133816 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.5512G>A (p.Asp1838Asn) |
single nucleotide variant |
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001007769] |
Chr22:20713340 [GRCh38] Chr22:21067628 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.5645T>C (p.Phe1882Ser) |
single nucleotide variant |
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001007770] |
Chr22:20712724 [GRCh38] Chr22:21067012 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:18916842-21075592)x1 |
copy number loss |
not provided [RCV001007166] |
Chr22:18916842..21075592 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21-11.23(chr22:20732808-25193541)x3 |
copy number gain |
not provided [RCV001007169] |
Chr22:20732808..25193541 [GRCh37] Chr22:22q11.21-11.23 |
pathogenic |
NM_000185.4(SERPIND1):c.588G>A (p.Thr196=) |
single nucleotide variant |
not provided [RCV001200447] |
Chr22:20779900 [GRCh38] Chr22:21134188 [GRCh37] Chr22:22q11.21 |
likely benign |
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(chr22:18889693-21465485)x1 |
copy number loss |
not provided [RCV001537920] |
Chr22:18889693..21465485 [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 |
GRCh37/hg19 22q11.21(chr22:18889571-21464697)x1 |
copy number loss |
not provided [RCV001537922] |
Chr22:18889571..21464697 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18628147-21722313)x3 |
copy number gain |
See cases [RCV001263041] |
Chr22:18628147..21722313 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:21049799-21153690)x3 |
copy number gain |
not provided [RCV001259977] |
Chr22:21049799..21153690 [GRCh37] Chr22:22q11.21 |
likely benign |
GRCh37/hg19 22q11.21(chr22:21067691-21129559)x1 |
copy number loss |
not provided [RCV001259981] |
Chr22:21067691..21129559 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:20818353-21465659)x3 |
copy number gain |
not provided [RCV001259983] |
Chr22:20818353..21465659 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:18661699-21457610)x1 |
copy number loss |
See cases [RCV001263054] |
Chr22:18661699..21457610 [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 |
NM_058004.4(PI4KA):c.6016_6017dup (p.Lys2007fs) |
duplication |
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001331588] |
Chr22:20710764..20710765 [GRCh38] Chr22:21065052..21065053 [GRCh37] Chr22:22q11.21 |
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(chr22:18644790-21800471) |
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(chr22:18909044-21464119) |
copy number gain |
Cryptorchidism [RCV001291958] |
Chr22:18909044..21464119 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:21081284-21457610)x1 |
copy number loss |
See cases [RCV001263046] |
Chr22:21081284..21457610 [GRCh37] Chr22:22q11.21 |
likely pathogenic |
NM_058004.4(PI4KA):c.1076A>G (p.Asn359Ser) |
single nucleotide variant |
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001331585] |
Chr22:20807454 [GRCh38] Chr22:21161742 [GRCh37] Chr22:22q11.21 |
uncertain significance |
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 |
NM_058004.4(PI4KA):c.5924-139T>C |
single nucleotide variant |
not provided [RCV001527997] |
Chr22:20710997 [GRCh38] Chr22:21065285 [GRCh37] Chr22:22q11.21 |
benign |
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(chr22:20754407-21457610)x1 |
copy number loss |
See cases [RCV001263048] |
Chr22:20754407..21457610 [GRCh37] Chr22:22q11.21 |
likely pathogenic |
NM_058004.4(PI4KA):c.501G>T (p.Met167Ile) |
single nucleotide variant |
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001331586] |
Chr22:20820567 [GRCh38] Chr22:21174855 [GRCh37] Chr22:22q11.21 |
uncertain significance |
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 |
NM_000185.4(SERPIND1):c.890-1G>A |
single nucleotide variant |
Heparin cofactor II deficiency [RCV001334295] |
Chr22:20783971 [GRCh38] Chr22:21138259 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18886915-21461017)x3 |
copy number gain |
Epilepsy [RCV001293650] |
Chr22:18886915..21461017 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_058004.4(PI4KA):c.3275C>A (p.Ser1092Ter) |
single nucleotide variant |
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001336863] |
Chr22:20747671 [GRCh38] Chr22:21101959 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_058004.4(PI4KA):c.2684C>T (p.Ser895Phe) |
single nucleotide variant |
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001335318] |
Chr22:20764841 [GRCh38] Chr22:21119129 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:18894835-21464119) |
copy number gain |
Global developmental delay [RCV001291954] |
Chr22:18894835..21464119 [GRCh37] Chr22:22q11.21 |
pathogenic |
Single allele |
deletion |
DiGeorge syndrome [RCV001391675] |
Chr22:18893882..21563420 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:21075575-21454721) |
copy number loss |
Hydronephrosis [RCV001291976] |
Chr22:21075575..21454721 [GRCh37] Chr22:22q11.21 |
likely pathogenic |
Single allele |
deletion |
DiGeorge syndrome [RCV001391672] |
Chr22:18893882..21571027 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_058004.4(PI4KA):c.2109-102G>C |
single nucleotide variant |
not provided [RCV001537040] |
Chr22:20796416 [GRCh38] Chr22:21150704 [GRCh37] Chr22:22q11.21 |
benign |
GRCh37/hg19 22q11.21(chr22:18841374-21465101)x3 |
copy number gain |
not provided [RCV001537919] |
Chr22:18841374..21465101 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_058004.4(PI4KA):c.3153+238A>G |
single nucleotide variant |
not provided [RCV001536768] |
Chr22:20751055 [GRCh38] Chr22:21105343 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.3363+219del |
deletion |
not provided [RCV001688276] |
Chr22:20747364 [GRCh38] Chr22:21101652 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.530-168T>C |
single nucleotide variant |
not provided [RCV001530875] |
Chr22:20820068 [GRCh38] Chr22:21174356 [GRCh37] Chr22:22q11.21 |
benign |
NM_000185.4(SERPIND1):c.285C>T (p.Ile95=) |
single nucleotide variant |
SERPIND1-related disorder [RCV003931273]|not provided [RCV001684020] |
Chr22:20779597 [GRCh38] Chr22:21133885 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.5803-183T>A |
single nucleotide variant |
not provided [RCV001675424] |
Chr22:20711644 [GRCh38] Chr22:21065932 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.2278-62dup |
duplication |
not provided [RCV001541345] |
Chr22:20793293..20793294 [GRCh38] Chr22:21147581..21147582 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.6084-102G>A |
single nucleotide variant |
not provided [RCV001725484] |
Chr22:20710099 [GRCh38] Chr22:21064387 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.5462-347G>T |
single nucleotide variant |
not provided [RCV001651532] |
Chr22:20713737 [GRCh38] Chr22:21068025 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.4995+53dup |
duplication |
not provided [RCV001710331]|not specified [RCV003487736] |
Chr22:20726433..20726434 [GRCh38] Chr22:21080721..21080722 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.1461+155T>G |
single nucleotide variant |
not provided [RCV001617347] |
Chr22:20804145 [GRCh38] Chr22:21158433 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.2328+6181A>G |
single nucleotide variant |
not provided [RCV001669377] |
Chr22:20787012 [GRCh38] Chr22:21141300 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.2278-51del |
deletion |
not provided [RCV001654703] |
Chr22:20793294 [GRCh38] Chr22:21147582 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.2004+103G>A |
single nucleotide variant |
not provided [RCV001687691] |
Chr22:20798990 [GRCh38] Chr22:21153278 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.5802+272A>G |
single nucleotide variant |
not provided [RCV001683773] |
Chr22:20712214 [GRCh38] Chr22:21066502 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.530-124G>T |
single nucleotide variant |
not provided [RCV001710235] |
Chr22:20820024 [GRCh38] Chr22:21174312 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.5677-31A>G |
single nucleotide variant |
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001788814]|not provided [RCV001696425]|not specified [RCV003487726] |
Chr22:20712642 [GRCh38] Chr22:21066930 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.456+130G>C |
single nucleotide variant |
not provided [RCV001716796] |
Chr22:20824196 [GRCh38] Chr22:21178484 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.5803-241T>A |
single nucleotide variant |
not provided [RCV001537251] |
Chr22:20711702 [GRCh38] Chr22:21065990 [GRCh37] Chr22:22q11.21 |
benign |
GRCh37/hg19 22q11.21(chr22:18889969-21462658)x1 |
copy number loss |
See cases [RCV001526484] |
Chr22:18889969..21462658 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:20737912-21465659)x3 |
copy number gain |
See cases [RCV001526487] |
Chr22:20737912..21465659 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_000185.4(SERPIND1):c.1070T>C (p.Ile357Thr) |
single nucleotide variant |
not provided [RCV001756430] |
Chr22:20784152 [GRCh38] Chr22:21138440 [GRCh37] Chr22:22q11.21 |
uncertain significance |
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(chr22:21059670-21217876)x3 |
copy number gain |
not provided [RCV001833080] |
Chr22:21059670..21217876 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:21059670-21465659)x3 |
copy number gain |
not provided [RCV001834182] |
Chr22:21059670..21465659 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.3109G>A (p.Ala1037Thr) |
single nucleotide variant |
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV002273037]|not provided [RCV003319511] |
Chr22:20751337 [GRCh38] Chr22:21105625 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.-47G>C |
single nucleotide variant |
not provided [RCV001769948] |
Chr22:20858772 [GRCh38] Chr22:21213060 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_058004.4(PI4KA):c.*167G>A |
single nucleotide variant |
not provided [RCV001776562] |
Chr22:20707880 [GRCh38] Chr22:21062168 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_058004.4(PI4KA):c.3454G>A (p.Glu1152Lys) |
single nucleotide variant |
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001785409]|not provided [RCV002074080] |
Chr22:20744630 [GRCh38] Chr22:21098918 [GRCh37] Chr22:22q11.21 |
pathogenic|likely pathogenic |
NM_058004.4(PI4KA):c.3592G>A (p.Ala1198Thr) |
single nucleotide variant |
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001785410] |
Chr22:20742629 [GRCh38] Chr22:21096917 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_058004.4(PI4KA):c.6156_6159del (p.Thr2053fs) |
deletion |
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001785411]|Spastic paraplegia 84, autosomal recessive [RCV001785412]|not provided [RCV002541233] |
Chr22:20709922..20709925 [GRCh38] Chr22:21064210..21064213 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_058004.4(PI4KA):c.4666G>A (p.Val1556Met) |
single nucleotide variant |
Spastic paraplegia 84, autosomal recessive [RCV001785414]|not provided [RCV004591566]|not specified [RCV003479351] |
Chr22:20729329 [GRCh38] Chr22:21083617 [GRCh37] Chr22:22q11.21 |
pathogenic|uncertain significance |
NM_058004.4(PI4KA):c.5897A>C (p.Asp1966Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003295470] |
Chr22:20711367 [GRCh38] Chr22:21065655 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:19036286-21208284)x1 |
copy number loss |
Schizophrenia [RCV001801223] |
Chr22:19036286..21208284 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_058004.4(PI4KA):c.2624dup (p.Pro876fs) |
duplication |
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001785408] |
Chr22:20764900..20764901 [GRCh38] Chr22:21119188..21119189 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_058004.4(PI4KA):c.5456AAG[1] (p.Glu1820del) |
microsatellite |
Spastic paraplegia 84, autosomal recessive [RCV001785413] |
Chr22:20714458..20714460 [GRCh38] Chr22:21068746..21068748 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_058004.4(PI4KA):c.5159C>T (p.Thr1720Ile) |
single nucleotide variant |
Spastic paraplegia 84, autosomal recessive [RCV001785415] |
Chr22:20718780 [GRCh38] Chr22:21073068 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_058004.4(PI4KA):c.1815C>T (p.Ser605=) |
single nucleotide variant |
not provided [RCV001753044] |
Chr22:20799676 [GRCh38] Chr22:21153964 [GRCh37] Chr22:22q11.21 |
likely benign |
NC_000022.10:g.18861209_21630630del |
deletion |
Megacolon [RCV001290034] |
Chr22:18861209..21630630 [GRCh37] Chr22:22q11.21 |
likely pathogenic |
NM_058004.4(PI4KA):c.2064C>T (p.Ser688=) |
single nucleotide variant |
not provided [RCV001816317] |
Chr22:20798628 [GRCh38] Chr22:21152916 [GRCh37] Chr22:22q11.21 |
likely benign |
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 |
NM_058004.4(PI4KA):c.803G>A (p.Arg268His) |
single nucleotide variant |
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001809267] |
Chr22:20818536 [GRCh38] Chr22:21172824 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:18873001-21469900) |
copy number gain |
Cerebral palsy [RCV001796564] |
Chr22:18873001..21469900 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_058004.4(PI4KA):c.5924-221C>T |
single nucleotide variant |
not provided [RCV001774948] |
Chr22:20711079 [GRCh38] Chr22:21065367 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_000185.4(SERPIND1):c.635G>A (p.Arg212Lys) |
single nucleotide variant |
not provided [RCV001815912] |
Chr22:20779947 [GRCh38] Chr22:21134235 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:20732808-21465659) |
copy number gain |
Chromosome 22q11.2 microduplication syndrome [RCV002280734] |
Chr22:20732808..21465659 [GRCh37] Chr22:22q11.21 |
likely 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(chr22:18644790-21798907) |
copy number loss |
DiGeorge syndrome [RCV002280728] |
Chr22:18644790..21798907 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_058004.4(PI4KA):c.4867T>G (p.Tyr1623Asp) |
single nucleotide variant |
Gastrointestinal defects and immunodeficiency syndrome 2 [RCV001822068] |
Chr22:20727304 [GRCh38] Chr22:21081592 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:21059669-21804716)x1 |
copy number loss |
not provided [RCV001827632] |
Chr22:21059669..21804716 [GRCh37] Chr22:22q11.21 |
likely pathogenic |
GRCh37/hg19 22q11.21(chr22:20728957-21915096)x1 |
copy number loss |
not provided [RCV001827860] |
Chr22:20728957..21915096 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_058004.4(PI4KA):c.2330T>C (p.Leu777Pro) |
single nucleotide variant |
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001822071] |
Chr22:20765692 [GRCh38] Chr22:21119980 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:21033398-21465659)x3 |
copy number gain |
not provided [RCV001827815] |
Chr22:21033398..21465659 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:20717655-21465662)x3 |
copy number gain |
not provided [RCV001827891] |
Chr22:20717655..21465662 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.574C>T (p.Arg192Ter) |
single nucleotide variant |
Spastic paraplegia 84, autosomal recessive [RCV004799709] |
Chr22:20819856 [GRCh38] Chr22:21174144 [GRCh37] Chr22:22q11.21 |
likely pathogenic |
NM_058004.4(PI4KA):c.5774G>A (p.Gly1925Glu) |
single nucleotide variant |
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001822069] |
Chr22:20712514 [GRCh38] Chr22:21066802 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_058004.4(PI4KA):c.3571C>T (p.Gln1191Ter) |
single nucleotide variant |
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001822072] |
Chr22:20742650 [GRCh38] Chr22:21096938 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_058004.4(PI4KA):c.6065del (p.Arg2022fs) |
deletion |
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV001822070] |
Chr22:20710717 [GRCh38] Chr22:21065005 [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 |
NC_000022.10:g.(?_18900688)_(21351637_?)dup |
duplication |
DiGeorge syndrome [RCV001952526] |
Chr22:18900688..21351637 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.2955G>A (p.Val985=) |
single nucleotide variant |
not provided [RCV002214244] |
Chr22:20752935 [GRCh38] Chr22:21107223 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_000185.4(SERPIND1):c.749T>C (p.Ile250Thr) |
single nucleotide variant |
not provided [RCV002214245] |
Chr22:20780061 [GRCh38] Chr22:21134349 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.5974C>T (p.Pro1992Ser) |
single nucleotide variant |
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV002285183]|not provided [RCV002214243] |
Chr22:20710808 [GRCh38] Chr22:21065096 [GRCh37] Chr22:22q11.21 |
likely pathogenic |
NM_000185.4(SERPIND1):c.488G>C (p.Gly163Ala) |
single nucleotide variant |
Heparin cofactor II deficiency [RCV002245365] |
Chr22:20779800 [GRCh38] Chr22:21134088 [GRCh37] Chr22:22q11.21 |
uncertain significance |
Single allele |
deletion |
Velocardiofacial syndrome [RCV002247726] |
Chr22:18948677..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 |
NM_058004.4(PI4KA):c.1852C>T (p.Arg618Ter) |
single nucleotide variant |
PI4KA-related disorder [RCV004533974]|Phenylketonuria [RCV003164309]|Spastic paraplegia 84, autosomal recessive [RCV002221703] |
|
likely pathogenic|uncertain significance |
NM_000185.4(SERPIND1):c.700C>T (p.Leu234Phe) |
single nucleotide variant |
Heparin cofactor II deficiency [RCV002222279] |
Chr22:20780012 [GRCh38] Chr22:21134300 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_000185.4(SERPIND1):c.161T>G (p.Leu54Arg) |
single nucleotide variant |
Heparin cofactor II deficiency [RCV002222137] |
Chr22:20779473 [GRCh38] Chr22:21133761 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_000185.4(SERPIND1):c.466G>T (p.Val156Phe) |
single nucleotide variant |
not provided [RCV004790862] |
Chr22:20779778 [GRCh38] Chr22:21134066 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.4598T>G (p.Ile1533Ser) |
single nucleotide variant |
not provided [RCV003156506] |
Chr22:20729397 [GRCh38] Chr22:21083685 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.742G>T (p.Glu248Ter) |
single nucleotide variant |
not provided [RCV003152076] |
Chr22:20819688 [GRCh38] Chr22:21173976 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.5116C>G (p.Pro1706Ala) |
single nucleotide variant |
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV003148142]|not provided [RCV003225267] |
Chr22:20721298 [GRCh38] Chr22:21075586 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.2797A>G (p.Met933Val) |
single nucleotide variant |
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV002273110] |
Chr22:20753175 [GRCh38] Chr22:21107463 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NC_000022.11:g.18948676_21110520del |
deletion |
Velocardiofacial syndrome [RCV003318485] |
Chr22:18948676..21110520 [GRCh38] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18718028-21326012)x1 |
copy number loss |
See cases [RCV002246178] |
Chr22:18718028..21326012 [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 |
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(chr22:18917047-21465659) |
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 |
NM_000185.4(SERPIND1):c.941G>A (p.Arg314Gln) |
single nucleotide variant |
not provided [RCV002263286] |
Chr22:20784023 [GRCh38] Chr22:21138311 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.4289-1269G>A |
single nucleotide variant |
not provided [RCV002291383] |
Chr22:20731280 [GRCh38] Chr22:21085568 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:18893888-21414817)x1 |
copy number loss |
not provided [RCV002276112] |
Chr22:18893888..21414817 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18916842-21465659)x1 |
copy number loss |
See cases [RCV002292204] |
Chr22:18916842..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_058004.4(PI4KA):c.911T>A (p.Ile304Asn) |
single nucleotide variant |
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV002273096] |
Chr22:20813452 [GRCh38] Chr22:21167740 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:20732808-21800471)x1 |
copy number loss |
See cases [RCV002287834] |
Chr22:20732808..21800471 [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 |
NM_058004.4(PI4KA):c.5818A>C (p.Ile1940Leu) |
single nucleotide variant |
not provided [RCV002293063] |
Chr22:20711446 [GRCh38] Chr22:21065734 [GRCh37] Chr22:22q11.21 |
uncertain significance |
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(chr22:20725308-21465659)x1 |
copy number loss |
See cases [RCV002292208] |
Chr22:20725308..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_058004.4(PI4KA):c.3781G>A (p.Glu1261Lys) |
single nucleotide variant |
not provided [RCV002293668] |
Chr22:20734514 [GRCh38] Chr22:21088802 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.4532C>T (p.Ser1511Leu) |
single nucleotide variant |
not provided [RCV002293669] |
Chr22:20729463 [GRCh38] Chr22:21083751 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.2751del (p.Cys918fs) |
deletion |
PI4KA-related disorder [RCV002291384] |
Chr22:20761344 [GRCh38] Chr22:21115632 [GRCh37] Chr22:22q11.21 |
likely pathogenic |
GRCh37/hg19 22q11.21(chr22:20310410-21804886)x1 |
copy number loss |
See cases [RCV002286345] |
Chr22:20310410..21804886 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:20732808-21465659)x1 |
copy number loss |
See cases [RCV002287641] |
Chr22:20732808..21465659 [GRCh37] 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 |
NM_058004.4(PI4KA):c.5653C>T (p.Arg1885Cys) |
single nucleotide variant |
Spastic paraplegia 84, autosomal recessive [RCV002283765] |
Chr22:20712716 [GRCh38] Chr22:21067004 [GRCh37] Chr22:22q11.21 |
uncertain significance |
Single allele |
duplication |
not provided [RCV002266809] |
Chr22:20697728..21129998 [GRCh38] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.5860C>G (p.Gln1954Glu) |
single nucleotide variant |
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV002283624] |
Chr22:20711404 [GRCh38] Chr22:21065692 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:21059670-21286988)x3 |
copy number gain |
not provided [RCV002473778] |
Chr22:21059670..21286988 [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(chr22:18916843-21465659)x1 |
copy number loss |
not provided [RCV002474586] |
Chr22:18916843..21465659 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:20716877-21465659)x1 |
copy number loss |
not provided [RCV002474587] |
Chr22:20716877..21465659 [GRCh37] Chr22:22q11.21 |
likely pathogenic |
GRCh37/hg19 22q11.21(chr22:20980876-21129147)x3 |
copy number gain |
not provided [RCV002474652] |
Chr22:20980876..21129147 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:20728957-21798907)x1 |
copy number loss |
not provided [RCV002472521] |
Chr22:20728957..21798907 [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(chr22:20728957-21800797)x1 |
copy number loss |
not provided [RCV002472554] |
Chr22:20728957..21800797 [GRCh37] Chr22:22q11.21 |
likely 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(chr22:18916843-21804563)x3 |
copy number gain |
not provided [RCV002472525] |
Chr22:18916843..21804563 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:21049800-21465662)x1 |
copy number loss |
not provided [RCV002474517] |
Chr22:21049800..21465662 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_000185.4(SERPIND1):c.1168C>T (p.Arg390Ter) |
single nucleotide variant |
not provided [RCV002469899] |
Chr22:20786008 [GRCh38] Chr22:21140296 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:21062134-21465662)x3 |
copy number gain |
not provided [RCV002474713] |
Chr22:21062134..21465662 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:19336598-21208828)x1 |
copy number loss |
not provided [RCV002474524] |
Chr22:19336598..21208828 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_058004.4(PI4KA):c.5462-8G>A |
single nucleotide variant |
not specified [RCV002470143] |
Chr22:20713398 [GRCh38] Chr22:21067686 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:20725318-21800797)x1 |
copy number loss |
not provided [RCV002474535] |
Chr22:20725318..21800797 [GRCh37] Chr22:22q11.21 |
likely 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 22q11.21(chr22:21103226-21260113)x1 |
copy number loss |
not provided [RCV002473703] |
Chr22:21103226..21260113 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21-11.22(chr22:21029656-22485776)x3 |
copy number gain |
not provided [RCV002473924] |
Chr22:21029656..22485776 [GRCh37] Chr22:22q11.21-11.22 |
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 |
NM_058004.4(PI4KA):c.2041C>A (p.Gln681Lys) |
single nucleotide variant |
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV002306449] |
Chr22:20798651 [GRCh38] Chr22:21152939 [GRCh37] Chr22:22q11.21 |
uncertain significance |
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(chr22:20725309-21804563)x1 |
copy number loss |
not provided [RCV002472527] |
Chr22:20725309..21804563 [GRCh37] Chr22:22q11.21 |
likely pathogenic |
NM_058004.4(PI4KA):c.4901del (p.Thr1634fs) |
deletion |
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV002306450] |
Chr22:20727270 [GRCh38] Chr22:21081558 [GRCh37] Chr22:22q11.21 |
likely pathogenic |
NM_058004.4(PI4KA):c.3674A>G (p.His1225Arg) |
single nucleotide variant |
not provided [RCV002512047] |
Chr22:20742295 [GRCh38] Chr22:21096583 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.1816G>T (p.Asp606Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002902593] |
Chr22:20799675 [GRCh38] Chr22:21153963 [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 |
GRCh37/hg19 22q11.21(chr22:18893888-21570386)x1 |
copy number loss |
not provided [RCV002512211] |
Chr22:18893888..21570386 [GRCh37] Chr22:22q11.21 |
pathogenic |
GRCh37/hg19 22q11.21(chr22:18894078-21414817)x1 |
copy number loss |
not provided [RCV002512212] |
Chr22:18894078..21414817 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_058004.4(PI4KA):c.638C>T (p.Pro213Leu) |
single nucleotide variant |
not provided [RCV002511502] |
Chr22:20819792 [GRCh38] Chr22:21174080 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:19184000-21416024)x1 |
copy number loss |
not provided [RCV002512213] |
Chr22:19184000..21416024 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_058004.4(PI4KA):c.818C>G (p.Pro273Arg) |
single nucleotide variant |
not provided [RCV002511347] |
Chr22:20818521 [GRCh38] Chr22:21172809 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.5929G>A (p.Gly1977Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002863916] |
Chr22:20710853 [GRCh38] Chr22:21065141 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.5099A>G (p.Glu1700Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002910711] |
Chr22:20721315 [GRCh38] Chr22:21075603 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.1230C>G (p.Ser410Arg) |
single nucleotide variant |
not provided [RCV002510203] |
Chr22:20805104 [GRCh38] Chr22:21159392 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.5977G>A (p.Asp1993Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002924132]|not provided [RCV003434628] |
Chr22:20710805 [GRCh38] Chr22:21065093 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.5647C>T (p.Pro1883Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002950859] |
Chr22:20712722 [GRCh38] Chr22:21067010 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_000185.4(SERPIND1):c.1207T>C (p.Tyr403His) |
single nucleotide variant |
not specified [RCV004097043] |
Chr22:20786047 [GRCh38] Chr22:21140335 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.1117C>A (p.Leu373Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002888903] |
Chr22:20807413 [GRCh38] Chr22:21161701 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.1078C>G (p.Pro360Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002886875] |
Chr22:20807452 [GRCh38] Chr22:21161740 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.2369G>T (p.Arg790Leu) |
single nucleotide variant |
not provided [RCV003059840] |
Chr22:20765653 [GRCh38] Chr22:21119941 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.4024C>T (p.His1342Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002956299] |
Chr22:20734071 [GRCh38] Chr22:21088359 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.1018G>A (p.Val340Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002850747] |
Chr22:20811020 [GRCh38] Chr22:21165308 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_000185.4(SERPIND1):c.532C>T (p.His178Tyr) |
single nucleotide variant |
not specified [RCV004108347] |
Chr22:20779844 [GRCh38] Chr22:21134132 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.2518C>T (p.Pro840Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002917093] |
Chr22:20765156 [GRCh38] Chr22:21119444 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_000185.4(SERPIND1):c.1396C>G (p.Gln466Glu) |
single nucleotide variant |
not specified [RCV004115639] |
Chr22:20786962 [GRCh38] Chr22:21141250 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:21119425-21431174)x3 |
copy number gain |
not provided [RCV002509022] |
Chr22:21119425..21431174 [GRCh37] Chr22:22q11.21 |
not provided |
NM_000185.4(SERPIND1):c.229G>A (p.Asp77Asn) |
single nucleotide variant |
not specified [RCV004168499] |
Chr22:20779541 [GRCh38] Chr22:21133829 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_000185.4(SERPIND1):c.512G>A (p.Gly171Glu) |
single nucleotide variant |
not specified [RCV004105921] |
Chr22:20779824 [GRCh38] Chr22:21134112 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.2147T>C (p.Ile716Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002983630] |
Chr22:20796276 [GRCh38] Chr22:21150564 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.3871G>A (p.Glu1291Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002873296] |
Chr22:20734424 [GRCh38] Chr22:21088712 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.4253A>G (p.Lys1418Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002764787] |
Chr22:20733006 [GRCh38] Chr22:21087294 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.3960C>G (p.Phe1320Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002893599] |
Chr22:20734135 [GRCh38] Chr22:21088423 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.2624del (p.Pro875fs) |
deletion |
not provided [RCV002582063] |
Chr22:20764901 [GRCh38] Chr22:21119189 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_058004.4(PI4KA):c.3751G>A (p.Glu1251Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002718786] |
Chr22:20734544 [GRCh38] Chr22:21088832 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.4327G>A (p.Gly1443Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002897034] |
Chr22:20729973 [GRCh38] Chr22:21084261 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.5473C>T (p.Arg1825Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002831847] |
Chr22:20713379 [GRCh38] Chr22:21067667 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_000185.4(SERPIND1):c.40A>G (p.Ile14Val) |
single nucleotide variant |
not specified [RCV004099430] |
Chr22:20779352 [GRCh38] Chr22:21133640 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.4711G>A (p.Glu1571Lys) |
single nucleotide variant |
not provided [RCV003131911] |
Chr22:20727836 [GRCh38] Chr22:21082124 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.1015A>G (p.Ile339Val) |
single nucleotide variant |
PI4KA-related disorder [RCV004540625]|not provided [RCV003149403] |
Chr22:20811023 [GRCh38] Chr22:21165311 [GRCh37] Chr22:22q11.21 |
benign|likely benign |
NM_058004.4(PI4KA):c.2633T>C (p.Val878Ala) |
single nucleotide variant |
not provided [RCV003225449] |
Chr22:20764892 [GRCh38] Chr22:21119180 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.4990G>A (p.Asp1664Asn) |
single nucleotide variant |
Phenylketonuria [RCV003219210] |
Chr22:20726493 [GRCh38] Chr22:21080781 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.3733G>A (p.Glu1245Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003200232] |
Chr22:20742236 [GRCh38] Chr22:21096524 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.2116T>A (p.Ser706Thr) |
single nucleotide variant |
not provided [RCV003223110] |
Chr22:20796307 [GRCh38] Chr22:21150595 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.2315C>G (p.Pro772Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003184594] |
Chr22:20793206 [GRCh38] Chr22:21147494 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_000185.4(SERPIND1):c.863T>C (p.Met288Thr) |
single nucleotide variant |
not specified [RCV004278103] |
Chr22:20780175 [GRCh38] Chr22:21134463 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_000185.4(SERPIND1):c.622C>T (p.Arg208Cys) |
single nucleotide variant |
not specified [RCV004261465] |
Chr22:20779934 [GRCh38] Chr22:21134222 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh38/hg38 22q11.21(chr22:20354589-21405291) |
copy number loss |
22q11.2 central deletion syndrome [RCV003223565] |
Chr22:20354589..21405291 [GRCh38] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.2406C>T (p.Ser802=) |
single nucleotide variant |
not provided [RCV003134834] |
Chr22:20765616 [GRCh38] Chr22:21119904 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.2893G>A (p.Glu965Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003260649] |
Chr22:20752997 [GRCh38] Chr22:21107285 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.810G>A (p.Met270Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003197879] |
Chr22:20818529 [GRCh38] Chr22:21172817 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_058004.4(PI4KA):c.4765G>T (p.Ala1589Ser) |
single nucleotide variant |
not provided [RCV003319775] |
Chr22:20727782 [GRCh38] Chr22:21082070 [GRCh37] Chr22:22q11.21 |
uncertain significance |
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(chr22:20609932-21576553)x1 |
copy number loss |
Chromosome 22q11.2 deletion syndrome, distal [RCV003329503] |
Chr22:20609932..21576553 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_058004.4(PI4KA):c.5671C>T (p.Pro1891Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003349126] |
Chr22:20712698 [GRCh38] Chr22:21066986 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.4796T>C (p.Ile1599Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003350414] |
Chr22:20727375 [GRCh38] Chr22:21081663 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.4239C>T (p.Ala1413=) |
single nucleotide variant |
not provided [RCV003457098] |
Chr22:20733020 [GRCh38] Chr22:21087308 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_058004.4(PI4KA):c.4448A>C (p.Lys1483Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003384461] |
Chr22:20729672 [GRCh38] Chr22:21083960 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.359A>G (p.Lys120Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003348527] |
Chr22:20834570 [GRCh38] Chr22:21188858 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.4489G>A (p.Ala1497Thr) |
single nucleotide variant |
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV003447767] |
Chr22:20729506 [GRCh38] Chr22:21083794 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.1025A>G (p.Glu342Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003372194] |
Chr22:20811013 [GRCh38] Chr22:21165301 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.3646T>C (p.Trp1216Arg) |
single nucleotide variant |
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV003447768] |
Chr22:20742323 [GRCh38] Chr22:21096611 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.4089T>C (p.Asp1363=) |
single nucleotide variant |
not provided [RCV003431654] |
Chr22:20733807 [GRCh38] Chr22:21088095 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_058004.4(PI4KA):c.5935A>G (p.Met1979Val) |
single nucleotide variant |
not provided [RCV003431647] |
Chr22:20710847 [GRCh38] Chr22:21065135 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.2460C>T (p.Tyr820=) |
single nucleotide variant |
not provided [RCV003457345] |
Chr22:20765214 [GRCh38] Chr22:21119502 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_000185.4(SERPIND1):c.445G>A (p.Asp149Asn) |
single nucleotide variant |
not provided [RCV004810087] |
Chr22:20779757 [GRCh38] Chr22:21134045 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_058004.4(PI4KA):c.1185T>C (p.Phe395=) |
single nucleotide variant |
PI4KA-related disorder [RCV004540668]|not provided [RCV003437493] |
Chr22:20805149 [GRCh38] Chr22:21159437 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_000185.4(SERPIND1):c.18C>T (p.Asn6=) |
single nucleotide variant |
not provided [RCV003437491] |
Chr22:20779330 [GRCh38] Chr22:21133618 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_000185.4(SERPIND1):c.1107C>T (p.Leu369=) |
single nucleotide variant |
not provided [RCV003437492] |
Chr22:20784189 [GRCh38] Chr22:21138477 [GRCh37] Chr22:22q11.21 |
benign |
NM_000185.4(SERPIND1):c.245T>C (p.Leu82Pro) |
single nucleotide variant |
not provided [RCV004790861] |
Chr22:20779557 [GRCh38] Chr22:21133845 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.4580A>C (p.Asn1527Thr) |
single nucleotide variant |
not provided [RCV003431652] |
Chr22:20729415 [GRCh38] Chr22:21083703 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_000185.4(SERPIND1):c.1395C>T (p.Thr465=) |
single nucleotide variant |
not provided [RCV003431655] |
Chr22:20786961 [GRCh38] Chr22:21141249 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_058004.4(PI4KA):c.3918dup (p.Glu1307Ter) |
duplication |
PI4KA-related disorder [RCV004528755] |
Chr22:20734176..20734177 [GRCh38] Chr22:21088464..21088465 [GRCh37] Chr22:22q11.21 |
likely pathogenic |
GRCh37/hg19 22q11.21(chr22:18893888-21563415)x1 |
copy number loss |
not provided [RCV003457105] |
Chr22:18893888..21563415 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_000185.4(SERPIND1):c.1403G>A (p.Arg468His) |
single nucleotide variant |
not provided [RCV003431656] |
Chr22:20786969 [GRCh38] Chr22:21141257 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.5772C>T (p.Tyr1924=) |
single nucleotide variant |
not provided [RCV003431648] |
Chr22:20712516 [GRCh38] Chr22:21066804 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_058004.4(PI4KA):c.4944C>T (p.Asp1648=) |
single nucleotide variant |
not provided [RCV003431650] |
Chr22:20726539 [GRCh38] Chr22:21080827 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_058004.4(PI4KA):c.4371C>G (p.Pro1457=) |
single nucleotide variant |
not provided [RCV003431653] |
Chr22:20729929 [GRCh38] Chr22:21084217 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_058004.4(PI4KA):c.1318G>A (p.Ala440Thr) |
single nucleotide variant |
not provided [RCV003443590] |
Chr22:20805016 [GRCh38] Chr22:21159304 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.6142T>A (p.Cys2048Ser) |
single nucleotide variant |
PI4KA-related disorder [RCV004529258] |
Chr22:20709939 [GRCh38] Chr22:21064227 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.221G>A (p.Arg74Gln) |
single nucleotide variant |
not provided [RCV003441446] |
Chr22:20838667 [GRCh38] Chr22:21192955 [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_058004.4(PI4KA):c.2236C>T (p.Arg746Ter) |
single nucleotide variant |
PI4KA-related disorder [RCV004534375] |
Chr22:20796187 [GRCh38] Chr22:21150475 [GRCh37] Chr22:22q11.21 |
likely pathogenic |
NM_058004.4(PI4KA):c.5172C>G (p.Ser1724=) |
single nucleotide variant |
not provided [RCV003437489] |
Chr22:20718767 [GRCh38] Chr22:21073055 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_058004.4(PI4KA):c.4851A>G (p.Pro1617=) |
single nucleotide variant |
not provided [RCV003437490] |
Chr22:20727320 [GRCh38] Chr22:21081608 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_058004.4(PI4KA):c.168T>G (p.Leu56=) |
single nucleotide variant |
not provided [RCV003437494] |
Chr22:20838720 [GRCh38] Chr22:21193008 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_058004.4(PI4KA):c.2166C>T (p.Asp722=) |
single nucleotide variant |
not provided [RCV003457346] |
Chr22:20796257 [GRCh38] Chr22:21150545 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_058004.4(PI4KA):c.4839G>T (p.Ala1613=) |
single nucleotide variant |
not provided [RCV003431651] |
Chr22:20727332 [GRCh38] Chr22:21081620 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_058004.4(PI4KA):c.69C>T (p.Gly23=) |
single nucleotide variant |
not provided [RCV003431657] |
Chr22:20858657 [GRCh38] Chr22:21212945 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_058004.4(PI4KA):c.5097A>G (p.Glu1699=) |
single nucleotide variant |
not provided [RCV003431649] |
Chr22:20721317 [GRCh38] Chr22:21075605 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_058004.4(PI4KA):c.3900+1G>A |
single nucleotide variant |
not provided [RCV003691462] |
Chr22:20734394 [GRCh38] Chr22:21088682 [GRCh37] Chr22:22q11.21 |
likely pathogenic |
NM_058004.4(PI4KA):c.5462-44C>T |
single nucleotide variant |
not specified [RCV003489030] |
Chr22:20713434 [GRCh38] Chr22:21067722 [GRCh37] Chr22:22q11.21 |
benign |
NM_000185.4(SERPIND1):c.1471G>T (p.Gly491Ter) |
single nucleotide variant |
not provided [RCV004798331] |
Chr22:20787037 [GRCh38] Chr22:21141325 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:21059669-21202879)x3 |
copy number gain |
not specified [RCV003986181] |
Chr22:21059669..21202879 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.4773+6G>A |
single nucleotide variant |
PI4KA-related disorder [RCV004532227] |
Chr22:20727768 [GRCh38] Chr22:21082056 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_058004.4(PI4KA):c.3126G>A (p.Thr1042=) |
single nucleotide variant |
PI4KA-related disorder [RCV004539191]|not provided [RCV003885151] |
Chr22:20751320 [GRCh38] Chr22:21105608 [GRCh37] Chr22:22q11.21 |
likely benign |
GRCh37/hg19 22q11.21(chr22:18649190-21800471)x3 |
copy number gain |
not provided [RCV004442843] |
Chr22:18649190..21800471 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_058004.4(PI4KA):c.984G>A (p.Met328Ile) |
single nucleotide variant |
PI4KA-related disorder [RCV004545538] |
Chr22:20813379 [GRCh38] Chr22:21167667 [GRCh37] Chr22:22q11.21 |
likely benign |
GRCh37/hg19 22q11.21(chr22:20730144-21464764)x1 |
copy number loss |
See cases [RCV004442797] |
Chr22:20730144..21464764 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_000185.4(SERPIND1):c.420G>C (p.Val140=) |
single nucleotide variant |
SERPIND1-related disorder [RCV003954937] |
Chr22:20779732 [GRCh38] Chr22:21134020 [GRCh37] Chr22:22q11.21 |
likely benign |
GRCh37/hg19 22q11.21(chr22:18919478-21461017)x3 |
copy number gain |
not provided [RCV004442819] |
Chr22:18919478..21461017 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_058004.4(PI4KA):c.2005-4C>T |
single nucleotide variant |
PI4KA-related disorder [RCV004542322] |
Chr22:20798691 [GRCh38] Chr22:21152979 [GRCh37] Chr22:22q11.21 |
likely benign |
GRCh37/hg19 22q11.21(chr22:18648856-21800471)x1 |
copy number loss |
See cases [RCV004442844] |
Chr22:18648856..21800471 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_000185.4(SERPIND1):c.973A>G (p.Met325Val) |
single nucleotide variant |
not provided [RCV003885060] |
Chr22:20784055 [GRCh38] Chr22:21138343 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:20716877-21800471)x1 |
copy number loss |
not provided [RCV004442740] |
Chr22:20716877..21800471 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:20723686-21800471)x1 |
copy number loss |
not provided [RCV004442815] |
Chr22:20723686..21800471 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_000185.4(SERPIND1):c.1164-6G>T |
single nucleotide variant |
not provided [RCV003887070] |
Chr22:20785998 [GRCh38] Chr22:21140286 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.712del (p.Leu238fs) |
deletion |
PI4KA-related disorder [RCV004539234] |
Chr22:20819718 [GRCh38] Chr22:21174006 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.5031G>A (p.Ala1677=) |
single nucleotide variant |
PI4KA-related disorder [RCV004532022] |
Chr22:20721383 [GRCh38] Chr22:21075671 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_000185.4(SERPIND1):c.830C>T (p.Ala277Val) |
single nucleotide variant |
SERPIND1-related disorder [RCV003958970] |
Chr22:20780142 [GRCh38] Chr22:21134430 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_000185.4(SERPIND1):c.286G>A (p.Val96Ile) |
single nucleotide variant |
SERPIND1-related disorder [RCV003959175] |
Chr22:20779598 [GRCh38] Chr22:21133886 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_000185.4(SERPIND1):c.1325C>T (p.Thr442Met) |
single nucleotide variant |
SERPIND1-related disorder [RCV003903916] |
Chr22:20786891 [GRCh38] Chr22:21141179 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_058004.4(PI4KA):c.1791C>T (p.Asn597=) |
single nucleotide variant |
not provided [RCV003992877] |
Chr22:20799700 [GRCh38] Chr22:21153988 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_058004.4(PI4KA):c.9G>C (p.Ala3=) |
single nucleotide variant |
PI4KA-related disorder [RCV004545543] |
Chr22:20858717 [GRCh38] Chr22:21213005 [GRCh37] Chr22:22q11.21 |
likely benign |
GRCh37/hg19 22q11.21(chr22:18919478-21927646)x3 |
copy number gain |
not provided [RCV004442756] |
Chr22:18919478..21927646 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_058004.4(PI4KA):c.2987+8C>T |
single nucleotide variant |
PI4KA-related disorder [RCV004540883] |
Chr22:20752895 [GRCh38] Chr22:21107183 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.4995+3A>G |
single nucleotide variant |
PI4KA-related disorder [RCV004539426] |
Chr22:20726485 [GRCh38] Chr22:21080773 [GRCh37] Chr22:22q11.21 |
likely benign |
GRCh37/hg19 22q11.21(chr22:21061979-21418457)x3 |
copy number gain |
not provided [RCV003885496] |
Chr22:21061979..21418457 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.4682+10C>T |
single nucleotide variant |
PI4KA-related disorder [RCV004537049] |
Chr22:20729303 [GRCh38] Chr22:21083591 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.3294G>A (p.Thr1098=) |
single nucleotide variant |
PI4KA-related disorder [RCV004545693] |
Chr22:20747652 [GRCh38] Chr22:21101940 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_058004.4(PI4KA):c.3009C>T (p.Ser1003=) |
single nucleotide variant |
PI4KA-related disorder [RCV004539271] |
Chr22:20751734 [GRCh38] Chr22:21106022 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_058004.4(PI4KA):c.2970A>G (p.Leu990=) |
single nucleotide variant |
PI4KA-related disorder [RCV004543998] |
Chr22:20752920 [GRCh38] Chr22:21107208 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_058004.4(PI4KA):c.3153+8C>T |
single nucleotide variant |
PI4KA-related disorder [RCV004543972] |
Chr22:20751285 [GRCh38] Chr22:21105573 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_000185.4(SERPIND1):c.118C>T (p.Pro40Ser) |
single nucleotide variant |
SERPIND1-related disorder [RCV003931962] |
Chr22:20779430 [GRCh38] Chr22:21133718 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_058004.4(PI4KA):c.351A>G (p.Thr117=) |
single nucleotide variant |
PI4KA-related disorder [RCV004531887] |
Chr22:20834578 [GRCh38] Chr22:21188866 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_058004.4(PI4KA):c.789+9G>A |
single nucleotide variant |
PI4KA-related disorder [RCV004539318] |
Chr22:20819632 [GRCh38] Chr22:21173920 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_058004.4(PI4KA):c.4929G>C (p.Arg1643=) |
single nucleotide variant |
not provided [RCV004546358] |
Chr22:20727242 [GRCh38] Chr22:21081530 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_058004.4(PI4KA):c.3372G>A (p.Gln1124=) |
single nucleotide variant |
PI4KA-related disorder [RCV004540807] |
Chr22:20744712 [GRCh38] Chr22:21099000 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_000185.4(SERPIND1):c.999C>T (p.Leu333=) |
single nucleotide variant |
SERPIND1-related disorder [RCV003934274] |
Chr22:20784081 [GRCh38] Chr22:21138369 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_000185.4(SERPIND1):c.1441G>A (p.Glu481Lys) |
single nucleotide variant |
not provided [RCV003887753] |
Chr22:20787007 [GRCh38] Chr22:21141295 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_000185.4(SERPIND1):c.1338C>T (p.Asn446=) |
single nucleotide variant |
SERPIND1-related disorder [RCV003959425] |
Chr22:20786904 [GRCh38] Chr22:21141192 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_058004.4(PI4KA):c.1062T>C (p.Ser354=) |
single nucleotide variant |
PI4KA-related disorder [RCV004543933] |
Chr22:20810976 [GRCh38] Chr22:21165264 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_058004.4(PI4KA):c.274-3dup |
duplication |
PI4KA-related disorder [RCV004534668] |
Chr22:20834657..20834658 [GRCh38] Chr22:21188945..21188946 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_058004.4(PI4KA):c.786T>C (p.Ser262=) |
single nucleotide variant |
PI4KA-related disorder [RCV004531939] |
Chr22:20819644 [GRCh38] Chr22:21173932 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_058004.4(PI4KA):c.6216T>C (p.Asn2072=) |
single nucleotide variant |
not provided [RCV003887144] |
Chr22:20709337 [GRCh38] Chr22:21063625 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_000185.4(SERPIND1):c.465C>T (p.Pro155=) |
single nucleotide variant |
SERPIND1-related disorder [RCV003899389] |
Chr22:20779777 [GRCh38] Chr22:21134065 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_058004.4(PI4KA):c.870C>T (p.Pro290=) |
single nucleotide variant |
PI4KA-related disorder [RCV004534683] |
Chr22:20813493 [GRCh38] Chr22:21167781 [GRCh37] Chr22:22q11.21 |
benign |
NM_058004.4(PI4KA):c.1820+6C>T |
single nucleotide variant |
PI4KA-related disorder [RCV004540852] |
Chr22:20799665 [GRCh38] Chr22:21153953 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_058004.4(PI4KA):c.2421C>T (p.Phe807=) |
single nucleotide variant |
PI4KA-related disorder [RCV004539299] |
Chr22:20765601 [GRCh38] Chr22:21119889 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_058004.4(PI4KA):c.3378C>T (p.Ser1126=) |
single nucleotide variant |
PI4KA-related disorder [RCV004539304] |
Chr22:20744706 [GRCh38] Chr22:21098994 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_058004.4(PI4KA):c.405G>A (p.Leu135=) |
single nucleotide variant |
PI4KA-related disorder [RCV004540754] |
Chr22:20824377 [GRCh38] Chr22:21178665 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_058004.4(PI4KA):c.210A>G (p.Leu70=) |
single nucleotide variant |
PI4KA-related disorder [RCV004531936] |
Chr22:20838678 [GRCh38] Chr22:21192966 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_058004.4(PI4KA):c.4539G>A (p.Pro1513=) |
single nucleotide variant |
PI4KA-related disorder [RCV004545483]|not provided [RCV004810643] |
Chr22:20729456 [GRCh38] Chr22:21083744 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_000185.4(SERPIND1):c.437A>T (p.Asn146Ile) |
single nucleotide variant |
not provided [RCV003992907] |
Chr22:20779749 [GRCh38] Chr22:21134037 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_000185.4(SERPIND1):c.1181T>C (p.Leu394Pro) |
single nucleotide variant |
not specified [RCV004453367] |
Chr22:20786021 [GRCh38] Chr22:21140309 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_000185.4(SERPIND1):c.584T>C (p.Ile195Thr) |
single nucleotide variant |
not specified [RCV004453368] |
Chr22:20779896 [GRCh38] Chr22:21134184 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:18888685-21465668)x1 |
copy number loss |
not provided [RCV004577450] |
Chr22:18888685..21465668 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_000185.4(SERPIND1):c.71C>T (p.Pro24Leu) |
single nucleotide variant |
not specified [RCV004453369] |
Chr22:20779383 [GRCh38] Chr22:21133671 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_058004.4(PI4KA):c.3757G>A (p.Ala1253Thr) |
single nucleotide variant |
Gastrointestinal defects and immunodeficiency syndrome 2 [RCV004577308] |
Chr22:20734538 [GRCh38] Chr22:21088826 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:20730747-21465668)x3 |
copy number gain |
not provided [RCV004577451] |
Chr22:20730747..21465668 [GRCh37] Chr22:22q11.21 |
uncertain significance |
GRCh37/hg19 22q11.21(chr22:19016502-21464637)x1 |
copy number loss |
not provided [RCV004577504] |
Chr22:19016502..21464637 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_000185.4(SERPIND1):c.848C>G (p.Pro283Arg) |
single nucleotide variant |
not specified [RCV004453370] |
Chr22:20780160 [GRCh38] Chr22:21134448 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_000185.4(SERPIND1):c.1412T>C (p.Val471Ala) |
single nucleotide variant |
not specified [RCV004666004] |
Chr22:20786978 [GRCh38] Chr22:21141266 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.3999C>T (p.Gly1333=) |
single nucleotide variant |
not provided [RCV004575250] |
Chr22:20734096 [GRCh38] Chr22:21088384 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_058004.4(PI4KA):c.5484C>T (p.Ser1828=) |
single nucleotide variant |
not provided [RCV004575015] |
Chr22:20713368 [GRCh38] Chr22:21067656 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_058004.4(PI4KA):c.4552G>A (p.Asp1518Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004648115] |
Chr22:20729443 [GRCh38] Chr22:21083731 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.3207G>A (p.Met1069Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004648116] |
Chr22:20749941 [GRCh38] Chr22:21104229 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_000185.4(SERPIND1):c.1463T>C (p.Leu488Pro) |
single nucleotide variant |
not specified [RCV004666003] |
Chr22:20787029 [GRCh38] Chr22:21141317 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_000185.4(SERPIND1):c.1135G>C (p.Glu379Gln) |
single nucleotide variant |
not provided [RCV004790863] |
Chr22:20784217 [GRCh38] Chr22:21138505 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.4406C>T (p.Ser1469Leu) |
single nucleotide variant |
not provided [RCV004725781] |
Chr22:20729894 [GRCh38] Chr22:21084182 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.24AGGCGG[2] (p.Gly15_Gly18del) |
microsatellite |
PI4KA-related disorder [RCV004736725] |
Chr22:20858679..20858690 [GRCh38] Chr22:21212967..21212978 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_058004.4(PI4KA):c.2717G>A (p.Arg906His) |
single nucleotide variant |
not provided [RCV004775895] |
Chr22:20761378 [GRCh38] Chr22:21115666 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NC_000022.10:g.(21062387_21063583)_(21063668_21064195)dup |
duplication |
not specified [RCV004771414] |
Chr22:21063583..21063668 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.2708+6C>T |
single nucleotide variant |
PI4KA-related disorder [RCV004737005] |
Chr22:20764811 [GRCh38] Chr22:21119099 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_058004.4(PI4KA):c.5316G>A (p.Pro1772=) |
single nucleotide variant |
not provided [RCV004722542] |
Chr22:20717709 [GRCh38] Chr22:21071997 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_058004.4(PI4KA):c.4026C>T (p.His1342=) |
single nucleotide variant |
not provided [RCV004722547] |
Chr22:20734069 [GRCh38] Chr22:21088357 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_058004.4(PI4KA):c.2575-8C>A |
single nucleotide variant |
PI4KA-related disorder [RCV004736964] |
Chr22:20764958 [GRCh38] Chr22:21119246 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_058004.4(PI4KA):c.2856G>A (p.Ala952=) |
single nucleotide variant |
PI4KA-related disorder [RCV004737779] |
Chr22:20753116 [GRCh38] Chr22:21107404 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_058004.4(PI4KA):c.3976C>T (p.Arg1326Cys) |
single nucleotide variant |
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV004759575] |
|
likely pathogenic |
NM_058004.4(PI4KA):c.3868C>G (p.Pro1290Ala) |
single nucleotide variant |
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [RCV004759576] |
|
uncertain significance |
NM_058004.4(PI4KA):c.4427A>T (p.Asn1476Ile) |
single nucleotide variant |
not provided [RCV004773420] |
Chr22:20729693 [GRCh38] Chr22:21083981 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.2818G>A (p.Ala940Thr) |
single nucleotide variant |
not provided [RCV004773421] |
Chr22:20753154 [GRCh38] Chr22:21107442 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.36A>C (p.Gly12=) |
single nucleotide variant |
not provided [RCV004809077] |
Chr22:20858690 [GRCh38] Chr22:21212978 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_058004.4(PI4KA):c.735C>A (p.Val245=) |
single nucleotide variant |
PI4KA-related disorder [RCV004736719] |
Chr22:20819695 [GRCh38] Chr22:21173983 [GRCh37] Chr22:22q11.21 |
likely benign |
NM_000185.4(SERPIND1):c.990dup (p.Asn331fs) |
duplication |
SERPIND1-related disorder [RCV004730368] |
Chr22:20784068..20784069 [GRCh38] Chr22:21138356..21138357 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_000185.4(SERPIND1):c.557_558del (p.Phe186fs) |
deletion |
Heparin cofactor II deficiency [RCV004796977] |
Chr22:20779868..20779869 [GRCh38] Chr22:21134156..21134157 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_000185.4(SERPIND1):c.623G>A (p.Arg208His) |
single nucleotide variant |
Heparin cofactor II deficiency [RCV000016092] |
Chr22:20779935 [GRCh38] Chr22:21134223 [GRCh37] Chr22:22q11.21 |
pathogenic|benign |
GRCh38/hg38 22q11.21(chr22:20726972-21086166)x3 |
copy number gain |
See cases [RCV000134521] |
Chr22:20726972..21086166 [GRCh38] Chr22:21081260..21440455 [GRCh37] Chr22:19411260..19770455 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:20711594-21583391)x1 |
copy number loss |
See cases [RCV000134522] |
Chr22:20711594..21583391 [GRCh38] Chr22:21065882..21937680 [GRCh37] Chr22:19395882..20267680 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:18339130-21003834)x3 |
copy number gain |
See cases [RCV000135898] |
Chr22:18339130..21003834 [GRCh38] Chr22:18908832..21358123 [GRCh37] Chr22:17288832..19688123 [NCBI36] Chr22:22q11.21 |
pathogenic |
GRCh38/hg38 22q11.21(chr22:20711594-21151128)x3 |
copy number gain |
See cases [RCV000139254] |
Chr22:20711594..21151128 [GRCh38] Chr22:21065882..21505417 [GRCh37] Chr22:19395882..19835417 [NCBI36] Chr22:22q11.21 |
uncertain significance |
GRCh38/hg38 22q11.21(chr22:20711594-21151128)x1 |
copy number loss |
See cases [RCV000139255] |
Chr22:20711594..21151128 [GRCh38] Chr22:21065882..21505417 [GRCh37] Chr22:19395882..19835417 [NCBI36] Chr22:22q11.21 |
uncertain significance |
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(chr22:18339130-21111370)x1 |
copy number loss |
See cases [RCV000143293] |
Chr22:18339130..21111370 [GRCh38] Chr22:18876630..21465659 [GRCh37] Chr22:17256630..19795659 [NCBI36] Chr22:22q11.21 |
pathogenic |
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(chr22:18916842-21465659)x3 |
copy number gain |
See cases [RCV000448486] |
Chr22:18916842..21465659 [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 |
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(chr22:18892575-21460220) |
copy number loss |
DiGeorge syndrome [RCV000767687] |
Chr22:18892575..21460220 [GRCh37] Chr22:22q11.21 |
pathogenic |
Single allele |
duplication |
Neurodevelopmental disorder [RCV000787416] |
Chr22:18890264..21464056 [GRCh37] Chr22:22q11.21 |
likely pathogenic |
GRCh37/hg19 22q11.21(chr22:21092648-21465662)x1 |
copy number loss |
not provided [RCV002472590] |
Chr22:21092648..21465662 [GRCh37] Chr22:22q11.21 |
likely pathogenic |
GRCh37/hg19 22q11.21(chr22:20730996-21465342)x1 |
copy number loss |
not provided [RCV001537923] |
Chr22:20730996..21465342 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_058004.4(PI4KA):c.674G>A (p.Gly225Asp) |
single nucleotide variant |
not provided [RCV003131912] |
Chr22:20819756 [GRCh38] Chr22:21174044 [GRCh37] Chr22:22q11.21 |
uncertain significance |
Single allele |
deletion |
See cases [RCV003154622] |
Chr22:18893886..21386103 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_058004.4(PI4KA):c.1080del (p.Ser361fs) |
deletion |
not provided [RCV003334243] |
Chr22:20807450 [GRCh38] Chr22:21161738 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_058004.4(PI4KA):c.2977del (p.Leu993fs) |
deletion |
PI4KA-related disorder [RCV004529626] |
Chr22:20752913 [GRCh38] Chr22:21107201 [GRCh37] Chr22:22q11.21 |
pathogenic |
NM_000185.4(SERPIND1):c.800T>G (p.Met267Arg) |
single nucleotide variant |
not specified [RCV004351412] |
Chr22:20780112 [GRCh38] Chr22:21134400 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.1525G>C (p.Asp509His) |
single nucleotide variant |
Inborn genetic diseases [RCV004503451] |
Chr22:20803257 [GRCh38] Chr22:21157545 [GRCh37] Chr22:22q11.21 |
uncertain significance |
NM_058004.4(PI4KA):c.1341G>T (p.Trp447Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004503450] |
Chr22:20804993 [GRCh38] Chr22:21159281 [GRCh37] Chr22:22q11.21 |
uncertain significance |