ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1q25.3-31.1(chr1:182137726-186931125)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 | |||
APOBEC4 | - | - |
GRCh38 GRCh37 |
- | 45 | |
ARPC5 | - | - |
GRCh38 GRCh37 |
5 | 36 | |
C1orf21 | - | - | - |
GRCh38 GRCh37 |
4 | 29 |
C1orf21-DT | - | - | - | GRCh38 | - | 10 |
COLGALT2 | - | - |
GRCh38 GRCh37 |
56 | 84 | |
DHX9 | - | - |
GRCh38 GRCh37 |
43 | 73 | |
DHX9-AS1 | - | - | - | GRCh38 | - | 7 |
EDEM3 | - | - |
GRCh38 GRCh37 |
63 | 92 | |
GLUL | - | - |
GRCh38 GRCh37 |
193 | 269 | |
GS1-204I12.4 | - | - | - | GRCh38 | - | 9 |
There are 152 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000053949.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024