ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p31.3-31.1(chr1:67239704-71924806)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 | |||
DIRAS3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | 36 | |
ANKRD13C | - | - |
GRCh38 GRCh37 |
8 | 42 | |
ANKRD13C-DT | - | - |
GRCh38 GRCh37 |
- | 17 | |
CTH | - | - |
GRCh38 GRCh37 |
70 | 100 | |
DEPDC1 | - | - |
GRCh38 GRCh37 |
45 | 70 | |
DEPDC1-AS1 | - | - | - | GRCh38 | - | 11 |
GADD45A | - | - |
GRCh38 GRCh37 |
2 | 27 | |
GNG12 | - | - |
GRCh38 GRCh37 |
1 | 25 | |
GNG12-AS1 | - | - | GRCh38 | - | 63 | |
IL12RB2 | - | - |
GRCh38 GRCh37 |
459 | 486 |
There are 72 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 | RCV000053843.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023