ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p13.3-13.2(chr1:110994179-112360446)x1
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
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 | |||
ADORA3 | - | - |
GRCh38 GRCh37 |
- | 25 | |
ATP5PB | - | - |
GRCh38 GRCh37 |
14 | 29 | |
C1orf162 | - | - | - |
GRCh38 GRCh37 |
2 | 17 |
CD53 | - | - |
GRCh38 GRCh37 |
- | 25 | |
CEPT1 | - | - |
GRCh38 GRCh37 |
10 | 29 | |
CHI3L2 | - | - |
GRCh38 GRCh37 |
27 | 49 | |
CHIA | - | - |
GRCh38 GRCh37 |
33 | 49 | |
DDX20 | - | - |
GRCh38 GRCh37 |
43 | 55 | |
DENND2D | - | - |
GRCh38 GRCh37 |
20 | 46 | |
DRAM2 | - | - |
GRCh38 GRCh37 |
181 | 202 |
There are 11 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Apr 28, 2017 | RCV000849607.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022