ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1q21.3(chr1:153759563-154219803)x1
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
GATAD2B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
522 | 543 | |
C1orf43 | - | - |
GRCh38 GRCh37 |
1 | 19 | |
CFAP141 | - | - | - |
GRCh38 GRCh37 |
- | 18 |
CREB3L4 | - | - |
GRCh38 GRCh37 |
19 | 37 | |
CRTC2 | - | - |
GRCh38 GRCh37 |
36 | 56 | |
DENND4B | - | - |
GRCh38 GRCh37 |
108 | 128 | |
INTS3 | - | - |
GRCh38 GRCh38 GRCh37 |
18 | 39 | |
JTB | - | - |
GRCh38 GRCh37 |
6 | 24 | |
JTB-DT | - | - | - | GRCh38 | - | 4 |
LOC122128430 | - | - | - | GRCh38 | - | 3 |
There are 27 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000053883.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023