RIMBP3 (RIMS binding protein 3) - Rat Genome Database

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Gene: RIMBP3 (RIMS binding protein 3) Homo sapiens
Analyze
No known orthologs.
Symbol: RIMBP3
Name: RIMS binding protein 3
RGD ID: 2291774
HGNC Page HGNC:29344
Description: Predicted to enable benzodiazepine receptor binding activity. Predicted to be involved in fertilization and spermatid development. Predicted to be located in manchette. Predicted to be active in nucleus.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: DKFZp434H0735; KIAA1666; RIM-BP3; RIM-BP3.1; RIM-BP3.A; RIMBP3.1; RIMBP3A; RIMS binding protein 3.1; RIMS-binding protein 3.1; RIMS-binding protein 3A
RGD Orthologs
Alliance Orthologs
More Info homologs ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382218,605,815 - 18,611,919 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2218,605,815 - 18,611,919 (-)EnsemblGRCh38hg38GRCh38
GRCh372220,455,682 - 20,461,786 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362218,835,991 - 18,841,786 (-)NCBINCBI36Build 36hg18NCBI36
Cytogenetic Map22q11.21NCBI
HuRef223,946,770 - 3,952,565 (-)NCBIHuRef
CHM1_12220,456,210 - 20,462,005 (-)NCBICHM1_1
T2T-CHM13v2.02221,796,920 - 21,803,024 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IEA)
cytoskeleton  (IEA)
manchette  (IBA)
nucleus  (IBA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10591208   PMID:11258795   PMID:12477932   PMID:15489334   PMID:17855024   PMID:18029348   PMID:21516116   PMID:21873635   PMID:23128233   PMID:24722188   PMID:25416956   PMID:25910212  
PMID:27107014   PMID:28718761   PMID:31515488   PMID:32296183   PMID:35931115  


Genomics

Variants

.
Variants in RIMBP3
67 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh37/hg19 22q11.21(chr22:18894835-21505417) copy number loss Ear malformation [RCV000626528] Chr22:18894835..21505417 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 copy number gain See cases [RCV000050271] Chr22:18339130..21207225 [GRCh38]
Chr22:18919942..21561514 [GRCh37]
Chr22:17299942..19891514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x1 copy number loss See cases [RCV000050273] Chr22:18339130..21207225 [GRCh38]
Chr22:18919942..21561514 [GRCh37]
Chr22:17299942..19891514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20671425)x1 copy number loss See cases [RCV000050290] Chr22:18339130..20671425 [GRCh38]
Chr22:18706001..21025713 [GRCh37]
Chr22:17086001..19355713 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3 copy number gain See cases [RCV000050991] Chr22:18339130..21086225 [GRCh38]
Chr22:18919942..21440514 [GRCh37]
Chr22:17299942..19770514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 copy number loss See cases [RCV000050992] Chr22:18339130..21086225 [GRCh38]
Chr22:18919942..21440514 [GRCh37]
Chr22:17299942..19770514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3 copy number gain See cases [RCV000050768] Chr22:18178957..31821193 [GRCh38]
Chr22:18661724..32217179 [GRCh37]
Chr22:17041724..30547179 [NCBI36]
Chr22:22q11.21-12.3
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 copy number loss See cases [RCV000050550] Chr22:18339130..21151128 [GRCh38]
Chr22:18706001..21505417 [GRCh37]
Chr22:17086001..19835417 [NCBI36]
Chr22:22q11.21
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 22q11.1-11.21(chr22:16916608-21151128)x3 copy number gain See cases [RCV000050614] Chr22:16916608..21151128 [GRCh38]
Chr22:17397498..21505417 [GRCh37]
Chr22:15777498..19835417 [NCBI36]
Chr22:22q11.1-11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20343532)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050729]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050729]|See cases [RCV000050729] Chr22:18339130..20343532 [GRCh38]
Chr22:18919942..20659606 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x3 copy number gain See cases [RCV000050628] Chr22:18339130..21454720 [GRCh38]
Chr22:18919942..21809009 [GRCh37]
Chr22:17299942..20139009 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x3 copy number gain See cases [RCV000050387] Chr22:18339130..21151128 [GRCh38]
Chr22:18919942..21505417 [GRCh37]
Chr22:17299942..19835417 [NCBI36]
Chr22:22q11.21
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:18339130-21454720)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(chr22:18339130-21151128)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 22q11.1-11.21(chr22:16538125-20363937)x1 copy number loss See cases [RCV000051270] Chr22:16538125..20363937 [GRCh38]
Chr22:17019015..20718227 [GRCh37]
Chr22:15399015..19048227 [NCBI36]
Chr22:22q11.1-11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18145052-21086366)x1 copy number loss See cases [RCV000051271] Chr22:18145052..21086366 [GRCh38]
Chr22:18627819..21440655 [GRCh37]
Chr22:17007819..19770655 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18145252-21151128)x1 copy number loss See cases [RCV000051272] Chr22:18145252..21151128 [GRCh38]
Chr22:18628019..21505417 [GRCh37]
Chr22:17008019..19835417 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18167908-21101267)x3 copy number gain See cases [RCV000051273] Chr22:18167908..21101267 [GRCh38]
Chr22:18650675..21455556 [GRCh37]
Chr22:17030675..19785556 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18167908-21101267)x1 copy number loss See cases [RCV000051275] Chr22:18167908..21101267 [GRCh38]
Chr22:18650675..21455556 [GRCh37]
Chr22:17030675..19785556 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18177786-21101267)x3 copy number gain See cases [RCV000051276] Chr22:18177786..21101267 [GRCh38]
Chr22:18660553..21455556 [GRCh37]
Chr22:17040553..19785556 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18177786-21101267)x1 copy number loss See cases [RCV000051278] Chr22:18177786..21101267 [GRCh38]
Chr22:18660553..21455556 [GRCh37]
Chr22:17040553..19785556 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21086225)x1 copy number loss See cases [RCV000051283] Chr22:18178957..21086225 [GRCh38]
Chr22:18661724..21440514 [GRCh37]
Chr22:17041724..19770514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18188862-21182552)x1 copy number loss See cases [RCV000051286] Chr22:18188862..21182552 [GRCh38]
Chr22:18671629..21536841 [GRCh37]
Chr22:17051629..19866841 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151269)x1 copy number loss See cases [RCV000051295] Chr22:18339130..21151269 [GRCh38]
Chr22:18705801..21505558 [GRCh37]
Chr22:17085801..19835558 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086366)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051296]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051296]|See cases [RCV000051296] Chr22:18339130..21086366 [GRCh38]
Chr22:18705801..21440655 [GRCh37]
Chr22:17085801..19770655 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20343532)x1 copy number loss See cases [RCV000051297] Chr22:18339130..20343532 [GRCh38]
Chr22:18706001..20659606 [GRCh37]
Chr22:17086001..18989606 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x1 copy number loss See cases [RCV000051298] Chr22:18339130..21454720 [GRCh38]
Chr22:18706001..21809009 [GRCh37]
Chr22:17086001..20139009 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21107522)x1 copy number loss See cases [RCV000051301] Chr22:18339130..21107522 [GRCh38]
Chr22:18890271..21461811 [GRCh37]
Chr22:17270271..19791811 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20343532)x1 copy number loss See cases [RCV000051319] Chr22:18339130..20343532 [GRCh38]
Chr22:18890271..20659606 [GRCh37]
Chr22:17270271..18989606 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21040441)x1 copy number loss See cases [RCV000051321] Chr22:18339130..21040441 [GRCh38]
Chr22:18890271..21394730 [GRCh37]
Chr22:17270271..19724730 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3 copy number gain See cases [RCV000051323] Chr22:18339130..21086225 [GRCh38]
Chr22:18896972..21440514 [GRCh37]
Chr22:17276972..19770514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 copy number loss See cases [RCV000051324] Chr22:18339130..21086225 [GRCh38]
Chr22:18896972..21440514 [GRCh37]
Chr22:17276972..19770514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086366)x1 copy number loss See cases [RCV000051325] Chr22:18339130..21086366 [GRCh38]
Chr22:18919742..21440655 [GRCh37]
Chr22:17299742..19770655 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20671566)x1 copy number loss See cases [RCV000051327] Chr22:18339130..20671566 [GRCh38]
Chr22:18919742..21025854 [GRCh37]
Chr22:17299742..19355854 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151269)x1 copy number loss See cases [RCV000051328] Chr22:18339130..21151269 [GRCh38]
Chr22:18919742..21505558 [GRCh37]
Chr22:17299742..19835558 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051023]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051023]|See cases [RCV000051023] Chr22:18339130..21086225 [GRCh38]
Chr22:18706001..21440514 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 copy number loss See cases [RCV000051024] Chr22:18339130..21086225 [GRCh38]
Chr22:18706001..21440514 [GRCh37]
Chr22:17086001..19770514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20354644)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051035]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051035]|See cases [RCV000051035] Chr22:18339130..20354644 [GRCh38]
Chr22:18919942..20708934 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21151128)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(chr22:18339130-21101267)x3 copy number gain See cases [RCV000051942] Chr22:18339130..21101267 [GRCh38]
Chr22:18950766..21455556 [GRCh37]
Chr22:17330766..19785556 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20588575)x3 copy number gain See cases [RCV000051943] Chr22:18339130..20588575 [GRCh38]
Chr22:19168758..20942862 [GRCh37]
Chr22:17519027..19272862 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)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(chr22:18169870-21559889)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(chr22:18339130-21056995)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 22q11.1-11.23(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(chr22:18339130-20671425)x1 copy number loss See cases [RCV000053003] Chr22:18339130..20671425 [GRCh38]
Chr22:18919942..21025713 [GRCh37]
Chr22:17299942..19355713 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21101267)x1 copy number loss See cases [RCV000053015] Chr22:18339130..21101267 [GRCh38]
Chr22:18938161..21455556 [GRCh37]
Chr22:17318161..19785556 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20641963)x1 copy number loss See cases [RCV000053025] Chr22:18339130..20641963 [GRCh38]
Chr22:18938161..20996250 [GRCh37]
Chr22:17318161..19326250 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21101267)x1 copy number loss See cases [RCV000053027] Chr22:18339130..21101267 [GRCh38]
Chr22:18962313..21455556 [GRCh37]
Chr22:17342313..19785556 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21101267)x1 copy number loss See cases [RCV000053029] Chr22:18339130..21101267 [GRCh38]
Chr22:18999803..21455556 [GRCh37]
Chr22:17379803..19785556 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151269)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(chr22:18339130-21151128)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(chr22:18389245-21086225)x3 copy number gain See cases [RCV000133642] Chr22:18389245..21086225 [GRCh38]
Chr22:20659547..21440514 [GRCh37]
Chr22:18989547..19770514 [NCBI36]
Chr22:22q11.21
uncertain significance
Single allele deletion Intellectual disability [RCV001293370] Chr22:18886915..21463730 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
GRCh38/hg38 22q11.21(chr22:18389245-21086225)x1 copy number loss See cases [RCV000133643] Chr22:18389245..21086225 [GRCh38]
Chr22:20659547..21440514 [GRCh37]
Chr22:18989547..19770514 [NCBI36]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:18886915-21461017)x3 copy number gain Epilepsy [RCV001293650] Chr22:18886915..21461017 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20354644)x1 copy number loss See cases [RCV000051035] Chr22:18339130..20354644 [GRCh38]
Chr22:18919942..20708934 [GRCh37]
Chr22:17299942..19038934 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3 copy number gain See cases [RCV000051023] Chr22:18339130..21086225 [GRCh38]
Chr22:18706001..21440514 [GRCh37]
Chr22:17086001..19770514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18909044-21464119) copy number gain Cryptorchidism [RCV001291958] Chr22:18909044..21464119 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x4 copy number gain See cases [RCV000133889] Chr22:18339130..21151128 [GRCh38]
Chr22:18894835..21505417 [GRCh37]
Chr22:17274835..19835417 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 copy number loss See cases [RCV000133890] Chr22:18339130..21151128 [GRCh38]
Chr22:18894835..21505417 [GRCh37]
Chr22:17274835..19835417 [NCBI36]
Chr22:22q11.21
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 copy number gain See cases [RCV000133880] Chr22:18339130..21207225 [GRCh38]
Chr22:18894835..21561514 [GRCh37]
Chr22:17274835..19891514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x1 copy number loss See cases [RCV000133881] Chr22:18339130..21207225 [GRCh38]
Chr22:18894835..21561514 [GRCh37]
Chr22:17274835..19891514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x3 copy number gain See cases [RCV000133887] Chr22:18339130..21151128 [GRCh38]
Chr22:18894835..21505417 [GRCh37]
Chr22:17274835..19835417 [NCBI36]
Chr22:22q11.21
pathogenic|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x1 copy number loss See cases [RCV000050630] Chr22:18339130..21454720 [GRCh38]
Chr22:18919942..21809009 [GRCh37]
Chr22:17299942..20139009 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20343532)x3 copy number gain See cases [RCV000050729] Chr22:18339130..20343532 [GRCh38]
Chr22:18919942..20659606 [GRCh37]
Chr22:17299942..18989606 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-18997006)x3 copy number gain See cases [RCV000133705] Chr22:18178957..18997006 [GRCh38]
Chr22:18661724..18984519 [GRCh37]
Chr22:17041724..17364519 [NCBI36]
Chr22:22q11.21
uncertain significance
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20354644)x3 copy number gain See cases [RCV000133785] Chr22:16916608..20354644 [GRCh38]
Chr22:17397498..20708934 [GRCh37]
Chr22:15777498..19038934 [NCBI36]
Chr22:22q11.1-11.21
pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20354644)x1 copy number loss See cases [RCV000133786] Chr22:16916608..20354644 [GRCh38]
Chr22:17397498..20708934 [GRCh37]
Chr22:15777498..19038934 [NCBI36]
Chr22:22q11.1-11.21
pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20343532)x3 copy number gain See cases [RCV000133682] Chr22:16916608..20343532 [GRCh38]
Chr22:17397498..20659606 [GRCh37]
Chr22:15777498..18989606 [NCBI36]
Chr22:22q11.1-11.21
pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21107463)x3 copy number gain See cases [RCV000134519] Chr22:18339130..21107463 [GRCh38]
Chr22:18894835..21461752 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21107463)x1 copy number loss See cases [RCV000134520] Chr22:18339130..21107463 [GRCh38]
Chr22:18894835..21461752 [GRCh37]
Chr22:17274835..19791752 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20343532)x1 copy number loss See cases [RCV000133998] Chr22:18339130..20343532 [GRCh38]
Chr22:18894835..20659606 [GRCh37]
Chr22:17274835..18989606 [NCBI36]
Chr22:22q11.21
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 22q11.1-11.21(chr22:16916743-19597367)x3 copy number gain See cases [RCV000134065] Chr22:16916743..19597367 [GRCh38]
Chr22:17397633..19584890 [GRCh37]
Chr22:15777633..17964890 [NCBI36]
Chr22:22q11.1-11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18178932-21151156)x3 copy number gain See cases [RCV000134128] Chr22:18178932..21151156 [GRCh38]
Chr22:18661699..21505445 [GRCh37]
Chr22:17041699..19835445 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18178932-21151156)x1 copy number loss See cases [RCV000134130] Chr22:18178932..21151156 [GRCh38]
Chr22:18661699..21505445 [GRCh37]
Chr22:17041699..19835445 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086226)x3 copy number gain See cases [RCV000134084] Chr22:18339130..21086226 [GRCh38]
Chr22:18894820..21440515 [GRCh37]
Chr22:17274820..19770515 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086226)x1 copy number loss See cases [RCV000134085] Chr22:18339130..21086226 [GRCh38]
Chr22:18894820..21440515 [GRCh37]
Chr22:17274820..19770515 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18168847-21086166)x3 copy number gain See cases [RCV000135308] Chr22:18168847..21086166 [GRCh38]
Chr22:18651614..21440455 [GRCh37]
Chr22:17031614..19770455 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18145380-21086226)x1 copy number loss See cases [RCV000134837] Chr22:18145380..21086226 [GRCh38]
Chr22:18628147..21440515 [GRCh37]
Chr22:17008147..19770515 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20354644)x3 copy number gain See cases [RCV000135512] Chr22:18339130..20354644 [GRCh38]
Chr22:18919942..20708934 [GRCh37]
Chr22:17299942..19038934 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-20343532)x1 copy number loss See cases [RCV000135619] Chr22:18178957..20343532 [GRCh38]
Chr22:18661724..20659606 [GRCh37]
Chr22:17041724..18989606 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21086225)x3 copy number gain See cases [RCV000135519] Chr22:18178957..21086225 [GRCh38]
Chr22:18661724..21440514 [GRCh37]
Chr22:17041724..19770514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 copy number gain See cases [RCV000135456] Chr22:18339130..21207225 [GRCh38]
Chr22:19058829..21561514 [GRCh37]
Chr22:17438829..19891514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21307146)x3 copy number gain See cases [RCV000136518] Chr22:18178957..21307146 [GRCh38]
Chr22:18661724..21661435 [GRCh37]
Chr22:17041724..19991435 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 copy number loss See cases [RCV000136527] Chr22:18339130..21151128 [GRCh38]
Chr22:20311704..21505417 [GRCh37]
Chr22:18691704..19835417 [NCBI36]
Chr22:22q11.21
uncertain significance
GRCh38/hg38 22q11.21(chr22:18339130-21003834)x3 copy number gain See cases [RCV000135898] Chr22:18339130..21003834 [GRCh38]
Chr22:18908832..21358123 [GRCh37]
Chr22:17288832..19688123 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18087546-19196905)x3 copy number gain See cases [RCV000136884] Chr22:18087546..19196905 [GRCh38]
Chr22:18570312..19184416 [GRCh37]
Chr22:16950312..17564416 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21028664)x1 copy number loss See cases [RCV000136808] Chr22:18339130..21028664 [GRCh38]
Chr22:18896972..21382953 [GRCh37]
Chr22:17276972..19712953 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 copy number loss See cases [RCV000136677] Chr22:18339130..21086225 [GRCh38]
Chr22:19058829..21440514 [GRCh37]
Chr22:17438829..19770514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21441926)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 22q11.1-11.21(chr22:16916743-18718546)x3 copy number gain See cases [RCV000138648] Chr22:16916743..18718546 [GRCh38]
Chr22:17397633..18706059 [GRCh37]
Chr22:15777633..17086059 [NCBI36]
Chr22:22q11.1-11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21109830)x1 copy number loss See cases [RCV000138671] Chr22:18178957..21109830 [GRCh38]
Chr22:18661724..21464119 [GRCh37]
Chr22:17041724..19794119 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18178932-19023018)x3 copy number gain See cases [RCV000138733] Chr22:18178932..19023018 [GRCh38]
Chr22:18661699..19010531 [GRCh37]
Chr22:17041699..17390531 [NCBI36]
Chr22:22q11.21
likely benign
GRCh38/hg38 22q11.21(chr22:18178932-18860507)x3 copy number gain See cases [RCV000138456] Chr22:18178932..18860507 [GRCh38]
Chr22:18661699..18848020 [GRCh37]
Chr22:17041699..17228020 [NCBI36]
Chr22:22q11.21
likely benign
GRCh38/hg38 22q11.21(chr22:18339130-18659564)x3 copy number gain See cases [RCV000138463] Chr22:18339130..18659564 [GRCh38]
Chr22:20345871..20671518 [GRCh37]
Chr22:18725871..19001518 [NCBI36]
Chr22:22q11.21
likely benign
GRCh38/hg38 22q11.21(chr22:18339130-21109830)x1 copy number loss See cases [RCV000138354] Chr22:18339130..21109830 [GRCh38]
Chr22:18706001..21464119 [GRCh37]
Chr22:17086001..19794119 [NCBI36]
Chr22:22q11.21
pathogenic|conflicting data from submitters
GRCh38/hg38 22q11.21(chr22:18178932-18996999)x1 copy number loss See cases [RCV000138400] Chr22:18178932..18996999 [GRCh38]
Chr22:18661699..18984512 [GRCh37]
Chr22:17041699..17364512 [NCBI36]
Chr22:22q11.21
likely benign
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(chr22:18522968-18606751)x3 copy number gain See cases [RCV000139383] Chr22:18522968..18606751 [GRCh38]
Chr22:20372835..20456618 [GRCh37]
Chr22:18752835..18836618 [NCBI36]
Chr22:22q11.21
likely benign
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(chr22:18178932-18843315)x3 copy number gain See cases [RCV000139097] Chr22:18178932..18843315 [GRCh38]
Chr22:18661699..18830828 [GRCh37]
Chr22:17041699..17210828 [NCBI36]
Chr22:22q11.21
likely benign
GRCh37/hg19 22q11.21(chr22:20345871-20708940)x3 copy number gain See cases [RCV000139102] Chr22:20345871..20708940 [GRCh37]
Chr22:18725871..19038940 [NCBI36]
Chr22:22q11.21
likely benign
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 22q11.21-11.23(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(chr22:18178957-21107463)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(chr22:18339130-21101210)x1 copy number loss See cases [RCV000140773] Chr22:18339130..21101210 [GRCh38]
Chr22:18999803..21455499 [GRCh37]
Chr22:17379803..19785499 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20686726)x1 copy number loss See cases [RCV000141972] Chr22:18339130..20686726 [GRCh38]
Chr22:18916828..21041014 [GRCh37]
Chr22:17296828..19371014 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1 copy number loss See cases [RCV000141704] Chr22:18339130..21111370 [GRCh38]
Chr22:18916828..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20980781)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(chr22:18157962-21111370)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(chr22:18339130-21450597)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 22q11.1-11.21(chr22:16916608-18997006)x4 copy number gain See cases [RCV000142442] Chr22:16916608..18997006 [GRCh38]
Chr22:17397498..18984519 [GRCh37]
Chr22:15777498..17364519 [NCBI36]
Chr22:22q11.1-11.21
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(chr22:18178932-18996999)x3 copy number gain See cases [RCV000142824] Chr22:18178932..18996999 [GRCh38]
Chr22:18661699..18984512 [GRCh37]
Chr22:17041699..17364512 [NCBI36]
Chr22:22q11.21
likely benign
GRCh38/hg38 22q11.21(chr22:18389245-21109830)x1 copy number loss See cases [RCV000142988] Chr22:18389245..21109830 [GRCh38]
Chr22:20659547..21464119 [GRCh37]
Chr22:18989547..19794119 [NCBI36]
Chr22:22q11.21
likely pathogenic|uncertain significance
GRCh38/hg38 22q11.21(chr22:18339130-20343532)x1 copy number loss See cases [RCV000142546] Chr22:18339130..20343532 [GRCh38]
Chr22:18919942..20659606 [GRCh37]
Chr22:17299942..18989606 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18389245-21151128)x1 copy number loss See cases [RCV000142670] Chr22:18389245..21151128 [GRCh38]
Chr22:20659547..21505417 [GRCh37]
Chr22:18989547..19835417 [NCBI36]
Chr22:22q11.21
uncertain significance
GRCh38/hg38 22q11.21(chr22:18178957-21454720)x1 copy number loss See cases [RCV000142783] Chr22:18178957..21454720 [GRCh38]
Chr22:18661724..21809009 [GRCh37]
Chr22:17041724..20139009 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21307146)x1 copy number loss See cases [RCV000142734] Chr22:18339130..21307146 [GRCh38]
Chr22:18765085..21661435 [GRCh37]
Chr22:17145085..19991435 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21447315)x3 copy number gain See cases [RCV000142641] Chr22:18339130..21447315 [GRCh38]
Chr22:18919942..21801604 [GRCh37]
Chr22:17299942..20131604 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1 copy number loss See cases [RCV000143362] Chr22:18339130..21111373 [GRCh38]
Chr22:18916827..21465662 [GRCh37]
Chr22:17296827..19795662 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x3 copy number gain See cases [RCV000143391] Chr22:18339130..21111370 [GRCh38]
Chr22:18916828..21465659 [GRCh37]
Chr22:17296828..19795659 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1 copy number loss See cases [RCV000143442] Chr22:18339130..21111373 [GRCh38]
Chr22:18970561..21465662 [GRCh37]
Chr22:17350561..19795662 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1 copy number loss See cases [RCV000143225] Chr22:18339130..21111373 [GRCh38]
Chr22:18916842..21465662 [GRCh37]
Chr22:17296842..19795662 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1 copy number loss See cases [RCV000143293] Chr22:18339130..21111370 [GRCh38]
Chr22:18876630..21465659 [GRCh37]
Chr22:17256630..19795659 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x3 copy number gain See cases [RCV000143229] Chr22:18339130..21111370 [GRCh38]
Chr22:18916842..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111370)x1 copy number loss See cases [RCV000143234] Chr22:18339130..21111370 [GRCh38]
Chr22:18916842..21465659 [GRCh37]
Chr22:17296842..19795659 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1 copy number loss See cases [RCV000143126] Chr22:18339130..21111373 [GRCh38]
Chr22:18916828..21465662 [GRCh37]
Chr22:17296828..19795662 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20671425)x1 copy number loss See cases [RCV000148086] Chr22:18339130..20671425 [GRCh38]
Chr22:18706001..21025713 [GRCh37]
Chr22:17086001..19355713 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 copy number gain See cases [RCV000148047] Chr22:18339130..21207225 [GRCh38]
Chr22:18919942..21561514 [GRCh37]
Chr22:17299942..19891514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-20343532)x1 copy number loss See cases [RCV000148287] Chr22:18339130..20343532 [GRCh38]
Chr22:18706001..20659606 [GRCh37]
Chr22:17086001..18989606 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21151128)x3 copy number gain See cases [RCV000148257] Chr22:18178957..21151128 [GRCh38]
Chr22:18661724..21505417 [GRCh37]
Chr22:17041724..19835417 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x3 copy number gain See cases [RCV000148102] Chr22:18339130..21454720 [GRCh38]
Chr22:18919942..21809009 [GRCh37]
Chr22:17299942..20139009 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x3 copy number gain See cases [RCV000148103] Chr22:18339130..21151128 [GRCh38]
Chr22:18919942..21505417 [GRCh37]
Chr22:17299942..19835417 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1 copy number loss See cases [RCV000148104] Chr22:18339130..21151128 [GRCh38]
Chr22:18919942..21505417 [GRCh37]
Chr22:17299942..19835417 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3 copy number gain See cases [RCV000148206] Chr22:18339130..21086225 [GRCh38]
Chr22:18919942..21440514 [GRCh37]
Chr22:17299942..19770514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x1 copy number loss See cases [RCV000148160] Chr22:18339130..21207225 [GRCh38]
Chr22:18919942..21561514 [GRCh37]
Chr22:17299942..19891514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x1 copy number loss See cases [RCV000148136] Chr22:18339130..21086225 [GRCh38]
Chr22:18919942..21440514 [GRCh37]
Chr22:17299942..19770514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21151128)x1 copy number loss See cases [RCV000148140] Chr22:18178957..21151128 [GRCh38]
Chr22:18661724..21505417 [GRCh37]
Chr22:17041724..19835417 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18145252-21151128)x1 copy number loss See cases [RCV000148178] Chr22:18145252..21151128 [GRCh38]
Chr22:18628019..21505417 [GRCh37]
Chr22:17008019..19835417 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21086225)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(chr22:18178957-21207225)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(chr22:18339130-21151128)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 22q11.1-11.21(chr22:16916608-20324240)x3 copy number gain See cases [RCV000050858] Chr22:16916608..20324240 [GRCh38]
Chr22:17397498..20311763 [GRCh37]
Chr22:15777498..18691763 [NCBI36]
Chr22:22q11.1-11.21
pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20324240)x1 copy number loss See cases [RCV000050859] Chr22:16916608..20324240 [GRCh38]
Chr22:17397498..20311763 [GRCh37]
Chr22:15777498..18691763 [NCBI36]
Chr22:22q11.1-11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18389245-21207225)x1 copy number loss See cases [RCV000050893] Chr22:18389245..21207225 [GRCh38]
Chr22:20659547..21561514 [GRCh37]
Chr22:18989547..19891514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-20324240)x3 copy number gain See cases [RCV000051158] Chr22:18178957..20324240 [GRCh38]
Chr22:18661724..20311763 [GRCh37]
Chr22:17041724..18691763 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20343532)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053103]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053103]|See cases [RCV000053103] Chr22:16916608..20343532 [GRCh38]
Chr22:17397498..20402677 [GRCh37]
Chr22:15777498..18782677 [NCBI36]
Chr22:22q11.1-11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18050488-18955291)x3 copy number gain See cases [RCV000053105] Chr22:18050488..18955291 [GRCh38]
Chr22:18533254..18942804 [GRCh37]
Chr22:16913254..17322804 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-18718532)x3 copy number gain See cases [RCV000051127] Chr22:16916608..18718532 [GRCh38]
Chr22:17397498..18706045 [GRCh37]
Chr22:15777498..17086045 [NCBI36]
Chr22:22q11.1-11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18894339-21440514)x1 copy number loss See cases [RCV000240142] Chr22:18894339..21440514 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18894339-21032422)x3 copy number gain See cases [RCV000240118] Chr22:18894339..21032422 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18900442-21440514)x1 copy number loss See cases [RCV000240087] Chr22:18900442..21440514 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:17012935-21431054)x4 copy number gain See cases [RCV000258792] Chr22:17012935..21431054 [GRCh37]
Chr22:22q11.1-11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18919579-21460595)x1 copy number loss See cases [RCV000258811] Chr22:18919579..21460595 [GRCh37]
Chr22:22q11.21
pathogenic|likely pathogenic
Single allele duplication Autism spectrum disorder [RCV000225609] Chr22:18874965..21028946 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:20220764-21024880)x3 copy number gain Premature ovarian failure [RCV000225115] Chr22:20220764..21024880 [GRCh37]
Chr22:22q11.21
benign
GRCh37/hg19 22q11.21-12.1(chr22:18738296-25914592)x1 copy number loss Premature ovarian failure [RCV000225330] Chr22:18738296..25914592 [GRCh37]
Chr22:22q11.21-12.1
benign
GRCh37/hg19 22q11.21(chr22:18894835-21440514)x1 copy number loss See cases [RCV000239867] Chr22:18894835..21440514 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18844632-21463730)x1 copy number loss See cases [RCV000239417] Chr22:18844632..21463730 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.21(chr22:18661724-21025713)x3 copy number gain See cases [RCV000239914] Chr22:18661724..21025713 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18650664-21440514)x3 copy number gain See cases [RCV000240570] Chr22:18650664..21440514 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18915347-21463730)x1 copy number loss VATER association [RCV000520380] Chr22:18915347..21463730 [GRCh37]
Chr22:22q11.21
likely 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 22q11.1-12.1(chr22:16054691-27296513)x3 copy number gain See cases [RCV000240348] Chr22:16054691..27296513 [GRCh37]
Chr22:22q11.1-12.1
pathogenic
GRCh37/hg19 22q11.21(chr22:19023801-21440514)x1 copy number loss See cases [RCV000240303] Chr22:19023801..21440514 [GRCh37]
Chr22:22q11.21
pathogenic
Single allele deletion 22q11.2 deletion syndrome [RCV003221321] Chr22:18274663..21110254 [GRCh38]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18640729-21465659)x3 copy number gain See cases [RCV000449438] Chr22:18640729..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21800471)x1 copy number loss See cases [RCV000449444] Chr22:18916842..21800471 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:19024656-21798907)x1 copy number loss See cases [RCV000449418] Chr22:19024656..21798907 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-20716903)x4 copy number gain See cases [RCV000449232] Chr22:18916842..20716903 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21465661)x1 copy number loss See cases [RCV000446325] Chr22:18916842..21465661 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-20716903)x1 copy number loss See cases [RCV000446341] Chr22:18916842..20716903 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18970561-21465659)x3 copy number gain See cases [RCV000446476] Chr22:18970561..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18917047-21465659)x1 copy number loss See cases [RCV000446495] Chr22:18917047..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18644790-21465659)x3 copy number gain See cases [RCV000447318] Chr22:18644790..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18894339-21440455)x3 copy number gain See cases [RCV000446626] Chr22:18894339..21440455 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-21465662)x1 copy number loss See cases [RCV000446673] Chr22:18648866..21465662 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21800797)x1 copy number loss See cases [RCV000446918] Chr22:18916842..21800797 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18644790-21915509)x1 copy number loss See cases [RCV000447211] Chr22:18644790..21915509 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21465659)x1 copy number loss See cases [RCV000446125] Chr22:18916842..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:19024656-21465659)x3 copy number gain See cases [RCV000446638] Chr22:19024656..21465659 [GRCh37]
Chr22:22q11.21
pathogenic|likely pathogenic
GRCh37/hg19 22q11.21(chr22:19023801-21440455)x1 copy number loss See cases [RCV000446681] Chr22:19023801..21440455 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18890042-21440455)x1 copy number loss See cases [RCV000446730] Chr22:18890042..21440455 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:19024792-21465659)x3 copy number gain See cases [RCV000446402] Chr22:19024792..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18937381-21465659)x3 copy number gain See cases [RCV000447496] Chr22:18937381..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18636748-21465659)x3 copy number gain See cases [RCV000447019] Chr22:18636748..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21465662)x1 copy number loss See cases [RCV000447026] Chr22:18916842..21465662 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18644772-21041014)x3 copy number gain See cases [RCV000446741] Chr22:18644772..21041014 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18644790-21800471)x1 copy number loss See cases [RCV000446545] Chr22:18644790..21800471 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-21798907)x1 copy number loss See cases [RCV000447063] Chr22:18648866..21798907 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18650664-21440455)x1 copy number loss See cases [RCV000446173] Chr22:18650664..21440455 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(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(chr22:18916842-21915509)x1 copy number loss See cases [RCV000445962] Chr22:18916842..21915509 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21798907)x1 copy number loss See cases [RCV000445855] Chr22:18916842..21798907 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-21465659)x3 copy number gain See cases [RCV000445951] Chr22:18648866..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21465659)x3 copy number gain See cases [RCV000448486] Chr22:18916842..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18631979-21465659)x3 copy number gain See cases [RCV000448925] Chr22:18631979..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-21800797)x1 copy number loss See cases [RCV000448538] Chr22:18648866..21800797 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21465662)x3 copy number gain See cases [RCV000448166] Chr22:18916842..21465662 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.21(chr22:18916827-21465662)x1 copy number loss See cases [RCV000447793] Chr22:18916827..21465662 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888899-20716903)x1 copy number loss See cases [RCV000448331] Chr22:16888899..20716903 [GRCh37]
Chr22:22q11.1-11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18644790-21465659)x1 copy number loss See cases [RCV000448762] Chr22:18644790..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18894339-21440455)x1 copy number loss See cases [RCV000448077] Chr22:18894339..21440455 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.1-11.23(chr22:16888899-23723805)x3 copy number gain See cases [RCV000448224] Chr22:16888899..23723805 [GRCh37]
Chr22:22q11.1-11.23
pathogenic
GRCh37/hg19 22q11.21(chr22:18650664-21440455)x3 copy number gain See cases [RCV000448770] Chr22:18650664..21440455 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18917047-21465659)x1 copy number loss See cases [RCV000510221] Chr22:18917047..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18917047-21465662)x1 copy number loss See cases [RCV000510658] Chr22:18917047..21465662 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:19024657-21465662)x1 copy number loss See cases [RCV000510463] Chr22:19024657..21465662 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916828-21049800)x1 copy number loss See cases [RCV000510907] Chr22:18916828..21049800 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_015672.2(RIMBP3):c.1999G>C (p.Gly667Arg) single nucleotide variant not specified [RCV004284166] Chr22:18609436 [GRCh38]
Chr22:20459303 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:18650803-21460220) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767593] Chr22:18650803..21460220 [GRCh37]
Chr22:22q11.21
pathogenic
NM_015672.2(RIMBP3):c.2425G>A (p.Val809Met) single nucleotide variant not specified [RCV004321802] Chr22:18609010 [GRCh38]
Chr22:20458877 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_015672.2(RIMBP3):c.3235G>C (p.Asp1079His) single nucleotide variant not specified [RCV004306953] Chr22:18608200 [GRCh38]
Chr22:20458067 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_015672.2(RIMBP3):c.3020C>T (p.Thr1007Ile) single nucleotide variant not specified [RCV004324516] Chr22:18608415 [GRCh38]
Chr22:20458282 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_015672.2(RIMBP3):c.1175A>C (p.Tyr392Ser) single nucleotide variant not specified [RCV004301113] Chr22:18610260 [GRCh38]
Chr22:20460127 [GRCh37]
Chr22:22q11.21
likely benign
GRCh37/hg19 22q11.21(chr22:18900000-20500000) copy number gain Hypertelorism [RCV000626526] Chr22:18900000..20500000 [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 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.21(chr22:18644790-21465659)x3 copy number gain See cases [RCV000512387] Chr22:18644790..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18886915-21811991)x1 copy number loss See cases [RCV000663399] Chr22:18886915..21811991 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18970560-21465662)x3 copy number gain not provided [RCV000684508] Chr22:18970560..21465662 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21465662)x1 copy number loss not provided [RCV000684510] Chr22:18916842..21465662 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18644542-21465659)x1 copy number loss not provided [RCV000684513] Chr22:18644542..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21798907)x1 copy number loss not provided [RCV000684514] Chr22:18916842..21798907 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-21800797)x1 copy number loss not provided [RCV000684516] Chr22:18648866..21800797 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18935463-21465659)x1 copy number loss not provided [RCV000684509] Chr22:18935463..21465659 [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(chr22:18626108-21800797)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(chr22:20311903-21465659)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
GRCh37/hg19 22q11.21(chr22:18916842-20716903)x1 copy number loss not provided [RCV000684502] Chr22:18916842..20716903 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-20767095)x1 copy number loss not provided [RCV000684503] Chr22:18916842..20767095 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916827-21050078)x3 copy number gain not provided [RCV000684505] Chr22:18916827..21050078 [GRCh37]
Chr22:22q11.21
pathogenic
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
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.(?_18159879)_(21362822_?)del deletion Schizophrenia [RCV000754240] Chr22:18159879..21362822 [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 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.21(chr22:18886915-21465050)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 22q11.21(chr22:19758228-20761112)x1 copy number loss not provided [RCV000741753] Chr22:19758228..20761112 [GRCh37]
Chr22:22q11.21
benign
GRCh37/hg19 22q11.21(chr22:20314020-20691854)x3 copy number gain not provided [RCV000741758] Chr22:20314020..20691854 [GRCh37]
Chr22:22q11.21
benign
GRCh37/hg19 22q11.21(chr22:20317628-20632076)x3 copy number gain not provided [RCV000741759] Chr22:20317628..20632076 [GRCh37]
Chr22:22q11.21
benign
GRCh37/hg19 22q11.21(chr22:20330744-20650156)x1 copy number loss not provided [RCV000741761] Chr22:20330744..20650156 [GRCh37]
Chr22:22q11.21
benign
GRCh37/hg19 22q11.1-11.21(chr22:16114244-20737903)x3 copy number gain not provided [RCV000741690] Chr22:16114244..20737903 [GRCh37]
Chr22:22q11.1-11.21
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
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(chr22:18937380-21459713)x3 copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000788062] Chr22:18937380..21459713 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18889490-21917190)x1 copy number loss See cases [RCV000790601] Chr22:18889490..21917190 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18912231-21465672)x1 copy number loss Velocardiofacial syndrome [RCV000788056] Chr22:18912231..21465672 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18650803-21386010) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767595] Chr22:18650803..21386010 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18661724-21505417)x1 copy number loss Velocardiofacial syndrome [RCV000856641] Chr22:18661724..21505417 [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
Single allele deletion Neurodevelopmental disorder [RCV000787412] Chr22:18890264..21540347 [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(chr22:18892575-21460220) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767596] Chr22:18892575..21460220 [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(chr22:18900755-21800277) copy number loss DiGeorge syndrome [RCV000767747] Chr22:18900755..21800277 [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(chr22:18901004-21408430) copy number loss DiGeorge syndrome [RCV000767594] Chr22:18901004..21408430 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18912870-21431174) copy number loss DiGeorge syndrome [RCV000767633] Chr22:18912870..21431174 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18611223-21408430) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767591] Chr22:18611223..21408430 [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(chr22:18900755-21075586) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767598] Chr22:18900755..21075586 [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
GRCh37/hg19 22q11.21(chr22:18892575-21460220) copy number loss DiGeorge syndrome [RCV000767692] Chr22:18892575..21460220 [GRCh37]
Chr22:22q11.21
pathogenic
NM_015672.2(RIMBP3):c.4283G>A (p.Cys1428Tyr) single nucleotide variant not specified [RCV004293557] Chr22:18607152 [GRCh38]
Chr22:20457019 [GRCh37]
Chr22:22q11.21
uncertain significance
Single allele deletion Deep venous thrombosis [RCV000852271] Chr22:19710418..21142058 [GRCh37]
Chr22:22q11.21
likely pathogenic
GRCh37/hg19 22q11.21(chr22:18636749-21800471)x1 copy number loss Velocardiofacial syndrome [RCV000788059] Chr22:18636749..21800471 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:19819477-21464764)x3 copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000788064] Chr22:19819477..21464764 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18631364-21800471)x1 copy number loss Velocardiofacial syndrome [RCV000788057] Chr22:18631364..21800471 [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(chr22:18648855-21461017)x3 copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000788061] Chr22:18648855..21461017 [GRCh37]
Chr22:22q11.21
pathogenic
Single allele duplication Neurodevelopmental disorder [RCV000787416] Chr22:18890264..21464056 [GRCh37]
Chr22:22q11.21
likely pathogenic
GRCh37/hg19 22q11.21(chr22:18648855-21927646)x3 copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000788063] Chr22:18648855..21927646 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21075592)x1 copy number loss not provided [RCV001007166] Chr22:18916842..21075592 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18886915-21463730)x1 copy number loss See cases [RCV001194516] Chr22:18886915..21463730 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18844632-21797812)x1 copy number loss See cases [RCV001194550] Chr22:18844632..21797812 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18893888-21481925)x1 copy number loss not provided [RCV003312569] Chr22:18893888..21481925 [GRCh37]
Chr22:22q11.21
pathogenic
NM_015672.2(RIMBP3):c.3373G>A (p.Gly1125Ser) single nucleotide variant not specified [RCV004293805] Chr22:18608062 [GRCh38]
Chr22:20457929 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_015672.2(RIMBP3):c.4240G>A (p.Val1414Met) single nucleotide variant not specified [RCV004288874] Chr22:18607195 [GRCh38]
Chr22:20457062 [GRCh37]
Chr22:22q11.21
uncertain significance
Single allele deletion Abnormal bleeding [RCV000852267] Chr22:19709400..21142058 [GRCh37]
Chr22:22q11.21
likely pathogenic
NM_015672.2(RIMBP3):c.2656C>T (p.Arg886Trp) single nucleotide variant not specified [RCV004331654] Chr22:18608779 [GRCh38]
Chr22:20458646 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_015672.2(RIMBP3):c.1298A>G (p.Asp433Gly) single nucleotide variant not specified [RCV004291125] Chr22:18610137 [GRCh38]
Chr22:20460004 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:18916842-21033371)x1 copy number loss not provided [RCV001007165] Chr22:18916842..21033371 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:19647905-21153690)x1 copy number loss not provided [RCV002472681] Chr22:19647905..21153690 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916828-21800797)x1 copy number loss not provided [RCV002473925] Chr22:18916828..21800797 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.1-12.1(chr22:16888899-26483608)x3 copy number gain Cat eye syndrome [RCV001263219] Chr22:16888899..26483608 [GRCh37]
Chr22:22q11.1-12.1
pathogenic
GRCh37/hg19 22q11.21(chr22:18889571-21464697)x1 copy number loss not provided [RCV001537922] Chr22:18889571..21464697 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18886915-21463730)x1 copy number loss See cases [RCV001194533] Chr22:18886915..21463730 [GRCh37]
Chr22:22q11.21
pathogenic
Single allele deletion DiGeorge syndrome [RCV001003853] Chr22:18475385..23764120 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
GRCh37/hg19 22q11.1-11.22(chr22:16888899-22290476)x3 copy number gain not provided [RCV001007162] Chr22:16888899..22290476 [GRCh37]
Chr22:22q11.1-11.22
pathogenic
GRCh37/hg19 22q11.21(chr22:18841374-21465101)x3 copy number gain not provided [RCV001537919] Chr22:18841374..21465101 [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(chr22:18970561-21040836)x3 copy number gain not provided [RCV001007167] Chr22:18970561..21040836 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18912403-21431174) copy number loss DiGeorge syndrome [RCV001195119] Chr22:18912403..21431174 [GRCh37]
Chr22:22q11.21
pathogenic
Single allele deletion Inherited Immunodeficiency Diseases [RCV001027643] Chr22:18789965..21591197 [GRCh37]
Chr22:22q11.21
likely pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888899-20730144)x1 copy number loss not provided [RCV001007159] Chr22:16888899..20730144 [GRCh37]
Chr22:22q11.1-11.21
pathogenic
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(chr22:18916842-21011216)x1 copy number loss not provided [RCV001259980] Chr22:18916842..21011216 [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(chr22:18648866-21465659)x4 copy number gain not provided [RCV001259979] Chr22:18648866..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:19024656-21465662)x3 copy number gain not provided [RCV001259978] Chr22:19024656..21465662 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18628147-21722313)x3 copy number gain See cases [RCV001263041] Chr22:18628147..21722313 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18661699-21457610)x1 copy number loss See cases [RCV001263054] Chr22:18661699..21457610 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18765102-21661435)x1 copy number loss See cases [RCV001263047] Chr22:18765102..21661435 [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
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.21(chr22:18894835-21464119) copy number gain Global developmental delay [RCV001291954] Chr22:18894835..21464119 [GRCh37]
Chr22:22q11.21
pathogenic
NC_000022.10:g.(?_18900688)_(21351637_?)del deletion DiGeorge syndrome [RCV001383366]|not provided [RCV001871994] Chr22:18900688..21351637 [GRCh37]
Chr22:22q11.21
pathogenic|no classifications from unflagged records
GRCh37/hg19 22q11.21(chr22:18889977-21463189)x3 copy number gain not provided [RCV001537921] Chr22:18889977..21463189 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16800000-21500000)x4 copy number gain not provided [RCV001270641] Chr22:16800000..21500000 [GRCh37]
Chr22:22q11.1-11.21
pathogenic
Single allele deletion Epilepsy [RCV001293366] Chr22:18889490..21463730 [GRCh37]
Chr22:22q11.21
pathogenic
Single allele deletion DiGeorge syndrome [RCV001391672] Chr22:18893882..21571027 [GRCh37]
Chr22:22q11.21
pathogenic
Single allele deletion DiGeorge syndrome [RCV001391675] Chr22:18893882..21563420 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18889969-21462658)x1 copy number loss See cases [RCV001526484] Chr22:18889969..21462658 [GRCh37]
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(chr22:19036286-21208284)x1 copy number loss Schizophrenia [RCV001801223] Chr22:19036286..21208284 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18884714-21483289)x1 copy number loss See cases [RCV001780077] Chr22:18884714..21483289 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18873001-21469900) copy number gain Cerebral palsy [RCV001796564] Chr22:18873001..21469900 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18660135-21737597)x1 copy number loss Chromosome 22q11.2 deletion syndrome, distal [RCV001801214] Chr22:18660135..21737597 [GRCh37]
Chr22:22q11.21
pathogenic
NC_000022.10:g.18861209_21630630del deletion Megacolon [RCV001290034] Chr22:18861209..21630630 [GRCh37]
Chr22:22q11.21
likely pathogenic
GRCh37/hg19 22q11.21(chr22:18893344-21650280) copy number loss DiGeorge syndrome [RCV002280732] Chr22:18893344..21650280 [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 22q11.21(chr22:18644790-21800471) copy number loss DiGeorge syndrome [RCV002280730] Chr22:18644790..21800471 [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
NC_000022.10:g.(?_18900688)_(21351637_?)dup duplication DiGeorge syndrome [RCV001952526] Chr22:18900688..21351637 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:18884514-21484289)x1 copy number loss See cases [RCV002246175] Chr22:18884514..21484289 [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(chr22:18893888-21414817)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
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 22q11.1-11.21(chr22:16888899-21915509) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV002280738] Chr22:16888899..21915509 [GRCh37]
Chr22:22q11.1-11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:20310410-21804886)x1 copy number loss See cases [RCV002286345] Chr22:20310410..21804886 [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
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(chr22:18916842-21798907) copy number loss DiGeorge syndrome [RCV002280729] Chr22:18916842..21798907 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18644702-21467607)x1 copy number loss Syndromic anorectal malformation [RCV002286606] Chr22:18644702..21467607 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18718623-21563155)x1 copy number loss Syndromic anorectal malformation [RCV002286609] Chr22:18718623..21563155 [GRCh37]
Chr22:22q11.21
likely pathogenic
GRCh37/hg19 22q11.21(chr22:18916843-21033401)x1 copy number loss not provided [RCV002472535] Chr22:18916843..21033401 [GRCh37]
Chr22:22q11.21
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(chr22:18916843-21075592)x1 copy number loss not provided [RCV002474582] Chr22:18916843..21075592 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:19046677-21465662)x1 copy number loss not provided [RCV002473738] Chr22:19046677..21465662 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916843-21465659)x1 copy number loss not provided [RCV002474586] Chr22:18916843..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916843-21915509)x1 copy number loss not provided [RCV002473950] Chr22:18916843..21915509 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18644543-21800797)x1 copy number loss not provided [RCV002473959] Chr22:18644543..21800797 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18644791-21041014)x1 copy number loss not provided [RCV002474720] Chr22:18644791..21041014 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:19336598-21208828)x1 copy number loss not provided [RCV002474524] Chr22:19336598..21208828 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916843-21798907)x3 copy number gain not provided [RCV002472508] Chr22:18916843..21798907 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18648867-21798907)x3 copy number gain not provided [RCV002473937] Chr22:18648867..21798907 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18648867-21465659)x1 copy number loss not provided [RCV002472511] Chr22:18648867..21465659 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916843-21804563)x3 copy number gain not provided [RCV002472525] Chr22:18916843..21804563 [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(chr22:19184000-21416024)x1 copy number loss not provided [RCV002512213] Chr22:19184000..21416024 [GRCh37]
Chr22:22q11.21
pathogenic
NM_015672.2(RIMBP3):c.2977C>T (p.Arg993Cys) single nucleotide variant not specified [RCV004233695] Chr22:18608458 [GRCh38]
Chr22:20458325 [GRCh37]
Chr22:22q11.21
likely benign
NM_015672.2(RIMBP3):c.3643C>T (p.Pro1215Ser) single nucleotide variant not specified [RCV004194368] Chr22:18607792 [GRCh38]
Chr22:20457659 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_015672.2(RIMBP3):c.4523G>C (p.Gly1508Ala) single nucleotide variant not specified [RCV004207070] Chr22:18606912 [GRCh38]
Chr22:20456779 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:18893888-21570386)x1 copy number loss not provided [RCV002512211] Chr22:18893888..21570386 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18894078-21414817)x1 copy number loss not provided [RCV002512212] Chr22:18894078..21414817 [GRCh37]
Chr22:22q11.21
pathogenic
NM_015672.2(RIMBP3):c.3202T>C (p.Tyr1068His) single nucleotide variant not specified [RCV004210598] Chr22:18608233 [GRCh38]
Chr22:20458100 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:18834445-21414817)x1 copy number loss not provided [RCV002512210] Chr22:18834445..21414817 [GRCh37]
Chr22:22q11.21
pathogenic
NM_015672.2(RIMBP3):c.2971G>C (p.Val991Leu) single nucleotide variant not specified [RCV004241263] Chr22:18608464 [GRCh38]
Chr22:20458331 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_015672.2(RIMBP3):c.3997G>C (p.Glu1333Gln) single nucleotide variant not specified [RCV004193864] Chr22:18607438 [GRCh38]
Chr22:20457305 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_015672.2(RIMBP3):c.3266C>A (p.Pro1089Gln) single nucleotide variant not specified [RCV004190379] Chr22:18608169 [GRCh38]
Chr22:20458036 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_015672.2(RIMBP3):c.2372T>G (p.Met791Arg) single nucleotide variant not specified [RCV004132134] Chr22:18609063 [GRCh38]
Chr22:20458930 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_015672.2(RIMBP3):c.3286C>T (p.Arg1096Cys) single nucleotide variant not specified [RCV004199947] Chr22:18608149 [GRCh38]
Chr22:20458016 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_015672.2(RIMBP3):c.3857G>A (p.Arg1286Lys) single nucleotide variant not specified [RCV004131916] Chr22:18607578 [GRCh38]
Chr22:20457445 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_015672.2(RIMBP3):c.3530T>G (p.Val1177Gly) single nucleotide variant not specified [RCV004160549] Chr22:18607905 [GRCh38]
Chr22:20457772 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_015672.2(RIMBP3):c.3997G>A (p.Glu1333Lys) single nucleotide variant not specified [RCV004183769] Chr22:18607438 [GRCh38]
Chr22:20457305 [GRCh37]
Chr22:22q11.21
likely benign
NM_015672.2(RIMBP3):c.1409G>A (p.Arg470Gln) single nucleotide variant not specified [RCV004211459] Chr22:18610026 [GRCh38]
Chr22:20459893 [GRCh37]
Chr22:22q11.21
likely benign
NM_015672.2(RIMBP3):c.2924G>T (p.Ser975Ile) single nucleotide variant not specified [RCV004112259] Chr22:18608511 [GRCh38]
Chr22:20458378 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_015672.2(RIMBP3):c.2480C>T (p.Ala827Val) single nucleotide variant not specified [RCV004199701] Chr22:18608955 [GRCh38]
Chr22:20458822 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_015672.2(RIMBP3):c.2978G>A (p.Arg993His) single nucleotide variant not specified [RCV004240547] Chr22:18608457 [GRCh38]
Chr22:20458324 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_015672.2(RIMBP3):c.1240G>A (p.Val414Met) single nucleotide variant not specified [RCV004216534] Chr22:18610195 [GRCh38]
Chr22:20460062 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_015672.2(RIMBP3):c.3811G>A (p.Ala1271Thr) single nucleotide variant not specified [RCV004086077] Chr22:18607624 [GRCh38]
Chr22:20457491 [GRCh37]
Chr22:22q11.21
likely benign
NM_015672.2(RIMBP3):c.1769A>G (p.Gln590Arg) single nucleotide variant not specified [RCV004208708] Chr22:18609666 [GRCh38]
Chr22:20459533 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_015672.2(RIMBP3):c.4322G>A (p.Gly1441Asp) single nucleotide variant not specified [RCV004198551] Chr22:18607113 [GRCh38]
Chr22:20456980 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_015672.2(RIMBP3):c.2102A>G (p.His701Arg) single nucleotide variant not specified [RCV004168656] Chr22:18609333 [GRCh38]
Chr22:20459200 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_015672.2(RIMBP3):c.4303G>A (p.Val1435Ile) single nucleotide variant not specified [RCV004112453] Chr22:18607132 [GRCh38]
Chr22:20456999 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_015672.2(RIMBP3):c.3991C>T (p.Arg1331Cys) single nucleotide variant not specified [RCV004230457] Chr22:18607444 [GRCh38]
Chr22:20457311 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_015672.2(RIMBP3):c.289C>T (p.Arg97Trp) single nucleotide variant not specified [RCV004100684] Chr22:18611146 [GRCh38]
Chr22:20461013 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_015672.2(RIMBP3):c.3992G>A (p.Arg1331His) single nucleotide variant not specified [RCV004219757] Chr22:18607443 [GRCh38]
Chr22:20457310 [GRCh37]
Chr22:22q11.21
likely benign
NM_015672.2(RIMBP3):c.3439C>G (p.Leu1147Val) single nucleotide variant not specified [RCV004238462] Chr22:18607996 [GRCh38]
Chr22:20457863 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_015672.2(RIMBP3):c.3550G>T (p.Asp1184Tyr) single nucleotide variant not specified [RCV004188748] Chr22:18607885 [GRCh38]
Chr22:20457752 [GRCh37]
Chr22:22q11.21
likely benign
NM_015672.2(RIMBP3):c.4736A>G (p.Asp1579Gly) single nucleotide variant not specified [RCV004110389] Chr22:18606699 [GRCh38]
Chr22:20456566 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_015672.2(RIMBP3):c.1286G>C (p.Arg429Pro) single nucleotide variant not specified [RCV004167715] Chr22:18610149 [GRCh38]
Chr22:20460016 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_015672.2(RIMBP3):c.1934G>C (p.Arg645Pro) single nucleotide variant not specified [RCV004165530] Chr22:18609501 [GRCh38]
Chr22:20459368 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_015672.2(RIMBP3):c.4099G>A (p.Ala1367Thr) single nucleotide variant not specified [RCV004193298] Chr22:18607336 [GRCh38]
Chr22:20457203 [GRCh37]
Chr22:22q11.21
likely benign
NM_015672.2(RIMBP3):c.1958C>T (p.Ser653Phe) single nucleotide variant not specified [RCV004191143] Chr22:18609477 [GRCh38]
Chr22:20459344 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_015672.2(RIMBP3):c.3415G>A (p.Ala1139Thr) single nucleotide variant not specified [RCV004087610] Chr22:18608020 [GRCh38]
Chr22:20457887 [GRCh37]
Chr22:22q11.21
likely benign
Single allele deletion See cases [RCV003154622] Chr22:18893886..21386103 [GRCh37]
Chr22:22q11.21
pathogenic
NM_015672.2(RIMBP3):c.1223A>G (p.Tyr408Cys) single nucleotide variant not specified [RCV004252991] Chr22:18610212 [GRCh38]
Chr22:20460079 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_015672.2(RIMBP3):c.2333A>C (p.Lys778Thr) single nucleotide variant not specified [RCV004270481] Chr22:18609102 [GRCh38]
Chr22:20458969 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_015672.2(RIMBP3):c.3184C>T (p.Arg1062Trp) single nucleotide variant not specified [RCV004262661] Chr22:18608251 [GRCh38]
Chr22:20458118 [GRCh37]
Chr22:22q11.21
likely benign
NM_015672.2(RIMBP3):c.3911G>C (p.Ser1304Thr) single nucleotide variant not specified [RCV004256441] Chr22:18607524 [GRCh38]
Chr22:20457391 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_015672.2(RIMBP3):c.4144G>A (p.Glu1382Lys) single nucleotide variant not specified [RCV004271486] Chr22:18607291 [GRCh38]
Chr22:20457158 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_015672.2(RIMBP3):c.1433C>T (p.Ala478Val) single nucleotide variant not specified [RCV004256205] Chr22:18610002 [GRCh38]
Chr22:20459869 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_015672.2(RIMBP3):c.3569G>A (p.Arg1190Gln) single nucleotide variant not specified [RCV004249006] Chr22:18607866 [GRCh38]
Chr22:20457733 [GRCh37]
Chr22:22q11.21
likely benign
NM_015672.2(RIMBP3):c.1246C>T (p.Arg416Trp) single nucleotide variant not specified [RCV004271634] Chr22:18610189 [GRCh38]
Chr22:20460056 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_015672.2(RIMBP3):c.2334A>C (p.Lys778Asn) single nucleotide variant not specified [RCV004270482] Chr22:18609101 [GRCh38]
Chr22:20458968 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_015672.2(RIMBP3):c.2998C>T (p.His1000Tyr) single nucleotide variant not specified [RCV004256832] Chr22:18608437 [GRCh38]
Chr22:20458304 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_015672.2(RIMBP3):c.1544C>T (p.Pro515Leu) single nucleotide variant not specified [RCV004323472] Chr22:18609891 [GRCh38]
Chr22:20459758 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:18893838-20508931)x3 copy number gain Chromosome 22q11.2 deletion syndrome, distal [RCV003329495] Chr22:18893838..20508931 [GRCh37]
Chr22:22q11.21
pathogenic
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
NM_015672.2(RIMBP3):c.2381C>T (p.Thr794Ile) single nucleotide variant not specified [RCV004335007] Chr22:18609054 [GRCh38]
Chr22:20458921 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_015672.2(RIMBP3):c.2420G>A (p.Ser807Asn) single nucleotide variant not specified [RCV004351343] Chr22:18609015 [GRCh38]
Chr22:20458882 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_015672.2(RIMBP3):c.1466T>C (p.Leu489Pro) single nucleotide variant not specified [RCV004351900] Chr22:18609969 [GRCh38]
Chr22:20459836 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_015672.2(RIMBP3):c.3598A>G (p.Thr1200Ala) single nucleotide variant not specified [RCV004349411] Chr22:18607837 [GRCh38]
Chr22:20457704 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_015672.2(RIMBP3):c.1205G>A (p.Arg402Gln) single nucleotide variant not specified [RCV004342569] Chr22:18610230 [GRCh38]
Chr22:20460097 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_015672.2(RIMBP3):c.1968C>G (p.Ile656Met) single nucleotide variant not specified [RCV004347766] Chr22:18609467 [GRCh38]
Chr22:20459334 [GRCh37]
Chr22:22q11.21
likely benign
NM_015672.2(RIMBP3):c.3547G>A (p.Glu1183Lys) single nucleotide variant not specified [RCV004337336] Chr22:18607888 [GRCh38]
Chr22:20457755 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_015672.2(RIMBP3):c.1523T>C (p.Leu508Pro) single nucleotide variant not specified [RCV004351041] Chr22:18609912 [GRCh38]
Chr22:20459779 [GRCh37]
Chr22:22q11.21
likely benign
GRCh37/hg19 22q11.21(chr22:18893888-21563415)x1 copy number loss not provided [RCV003457105] Chr22:18893888..21563415 [GRCh37]
Chr22:22q11.21
pathogenic
NM_015672.2(RIMBP3):c.3901C>A (p.Pro1301Thr) single nucleotide variant not specified [RCV004365352] Chr22:18607534 [GRCh38]
Chr22:20457401 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_015672.2(RIMBP3):c.1564G>A (p.Val522Ile) single nucleotide variant not specified [RCV004341524] Chr22:18609871 [GRCh38]
Chr22:20459738 [GRCh37]
Chr22:22q11.21
likely benign
NM_015672.2(RIMBP3):c.1279C>T (p.Leu427Phe) single nucleotide variant not specified [RCV004363866] Chr22:18610156 [GRCh38]
Chr22:20460023 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:18916843-20716903)x3 copy number gain not provided [RCV003485235] Chr22:18916843..20716903 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:17832142-20945625)x1 copy number loss not provided [RCV003483389] Chr22:17832142..20945625 [GRCh37]
Chr22:22q11.1-11.21
pathogenic
NM_015672.2(RIMBP3):c.1971C>G (p.Ala657=) single nucleotide variant not provided [RCV003437479] Chr22:18609464 [GRCh38]
Chr22:20459331 [GRCh37]
Chr22:22q11.21
likely benign
NM_015672.2(RIMBP3):c.1981C>T (p.Leu661=) single nucleotide variant not provided [RCV003431637] Chr22:18609454 [GRCh38]
Chr22:20459321 [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
GRCh37/hg19 22q11.21(chr22:18919478-21927646)x3 copy number gain not provided [RCV004442756] Chr22:18919478..21927646 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18649190-21022258)x3 copy number gain See cases [RCV004442816] Chr22:18649190..21022258 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18919478-21461017)x3 copy number gain not provided [RCV004442819] Chr22:18919478..21461017 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18649190-21800471)x3 copy number gain not provided [RCV004442843] Chr22:18649190..21800471 [GRCh37]
Chr22:22q11.21
pathogenic
NM_015672.2(RIMBP3):c.2878A>G (p.Ile960Val) single nucleotide variant not specified [RCV004451706] Chr22:18608557 [GRCh38]
Chr22:20458424 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_015672.2(RIMBP3):c.3257C>A (p.Pro1086His) single nucleotide variant not specified [RCV004451707] Chr22:18608178 [GRCh38]
Chr22:20458045 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_015672.2(RIMBP3):c.4358C>T (p.Pro1453Leu) single nucleotide variant not specified [RCV004451713] Chr22:18607077 [GRCh38]
Chr22:20456944 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_015672.2(RIMBP3):c.3367G>T (p.Val1123Phe) single nucleotide variant not specified [RCV004451708] Chr22:18608068 [GRCh38]
Chr22:20457935 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_015672.2(RIMBP3):c.1325A>G (p.Asn442Ser) single nucleotide variant not specified [RCV004451700] Chr22:18610110 [GRCh38]
Chr22:20459977 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_015672.2(RIMBP3):c.2693C>T (p.Pro898Leu) single nucleotide variant not specified [RCV004451705] Chr22:18608742 [GRCh38]
Chr22:20458609 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_015672.2(RIMBP3):c.1931G>A (p.Gly644Asp) single nucleotide variant not specified [RCV004451702] Chr22:18609504 [GRCh38]
Chr22:20459371 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_015672.2(RIMBP3):c.4036G>A (p.Ala1346Thr) single nucleotide variant not specified [RCV004451711] Chr22:18607399 [GRCh38]
Chr22:20457266 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_015672.2(RIMBP3):c.2093G>A (p.Arg698Gln) single nucleotide variant not specified [RCV004451703] Chr22:18609342 [GRCh38]
Chr22:20459209 [GRCh37]
Chr22:22q11.21
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:252
Count of miRNA genes:185
Interacting mature miRNAs:189
Transcripts:ENST00000426804
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 299
Low 17 6 17 5 82 6 33 24 38 7 91 67 1 1 15
Below cutoff 1953 2384 1226 284 1300 136 3352 1421 3173 130 715 1226 158 1075 2082 1

Sequence


RefSeq Acc Id: ENST00000619918   ⟹   ENSP00000483386
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2218,605,815 - 18,611,919 (-)Ensembl
RefSeq Acc Id: NM_015672   ⟹   NP_056487
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382218,605,815 - 18,611,919 (-)NCBI
GRCh372220,455,991 - 20,461,786 (-)RGD
Build 362218,835,991 - 18,841,786 (-)NCBI Archive
HuRef223,946,770 - 3,952,565 (-)ENTREZGENE
CHM1_12221,900,248 - 21,905,951 (-)NCBI
T2T-CHM13v2.02221,796,920 - 21,803,024 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_056487 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH35246 (Get FASTA)   NCBI Sequence Viewer  
  BAB33336 (Get FASTA)   NCBI Sequence Viewer  
  CAB55970 (Get FASTA)   NCBI Sequence Viewer  
  CAB61362 (Get FASTA)   NCBI Sequence Viewer  
  CBH19334 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000483386
  ENSP00000483386.1
GenBank Protein Q9UFD9 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_056487   ⟸   NM_015672
- UniProtKB: Q9BY94 (UniProtKB/Swiss-Prot),   Q8IYP7 (UniProtKB/Swiss-Prot),   Q9UFQ5 (UniProtKB/Swiss-Prot),   Q9UFD9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000483386   ⟸   ENST00000619918
Protein Domains
Fibronectin type-III   SH3

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UFD9-F1-model_v2 AlphaFold Q9UFD9 1-1639 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29344 AgrOrtholog
COSMIC RIMBP3 COSMIC
Ensembl Genes ENSG00000275793 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000619918 ENTREZGENE
  ENST00000619918.1 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot
  SH3 Domains UniProtKB/Swiss-Prot
GTEx ENSG00000275793 GTEx
HGNC ID HGNC:29344 ENTREZGENE
Human Proteome Map RIMBP3 Human Proteome Map
InterPro FN3_dom UniProtKB/Swiss-Prot
  FN3_sf UniProtKB/Swiss-Prot
  Ig-like_fold UniProtKB/Swiss-Prot
  RIMBP1/2/3 UniProtKB/Swiss-Prot
  SH3-like_dom_sf UniProtKB/Swiss-Prot
  SH3_domain UniProtKB/Swiss-Prot
KEGG Report hsa:85376 UniProtKB/Swiss-Prot
NCBI Gene 85376 ENTREZGENE
OMIM 612699 OMIM
PANTHER PTHR14234 UniProtKB/Swiss-Prot
  PTHR14234:SF21 UniProtKB/Swiss-Prot
Pfam SH3_2 UniProtKB/Swiss-Prot
PharmGKB PA162401326 PharmGKB
PROSITE FN3 UniProtKB/Swiss-Prot
  SH3 UniProtKB/Swiss-Prot
SMART SH3 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF49265 UniProtKB/Swiss-Prot
  SSF50044 UniProtKB/Swiss-Prot
UniProt Q8IYP7 ENTREZGENE
  Q9BY94 ENTREZGENE
  Q9UFD9 ENTREZGENE
  Q9UFQ5 ENTREZGENE
  RIM3A_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q8IYP7 UniProtKB/Swiss-Prot
  Q9BY94 UniProtKB/Swiss-Prot
  Q9UFQ5 UniProtKB/Swiss-Prot