ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p31.3-31.1(chr1:66865125-77123381)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 | |||
DIRAS3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | 35 | |
ACADM | - | - |
GRCh38 GRCh37 |
859 | 891 | |
ANKRD13C | - | - |
GRCh38 GRCh37 |
3 | 36 | |
ANKRD13C-DT | - | - |
GRCh38 GRCh37 |
- | 14 | |
ASB17 | - | - |
GRCh38 GRCh37 |
12 | 36 | |
C1orf141 | - | - | - |
GRCh38 GRCh37 |
1 | 27 |
CRYZ | - | - |
GRCh38 GRCh37 |
19 | 47 | |
CTH | - | - |
GRCh38 GRCh37 |
65 | 95 | |
DEPDC1 | - | - |
GRCh38 GRCh37 |
30 | 55 | |
DEPDC1-AS1 | - | - | - | GRCh38 | - | 11 |
There are 157 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 26, 2013 | RCV000143129.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023