ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1q24.3-25.1(chr1:171881608-175899893)
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 | |||
ANKRD45 | - | - |
GRCh38 GRCh37 |
12 | 49 | |
C1orf105 | - | - | - |
GRCh38 GRCh37 |
2 | 83 |
CACYBP | - | - |
GRCh38 GRCh37 |
7 | 39 | |
CENPL | - | - |
GRCh38 GRCh37 |
20 | 66 | |
DARS2 | - | - |
GRCh38 GRCh37 |
398 | 446 | |
DNM3 | - | - |
GRCh38 GRCh37 |
50 | 85 | |
DNM3OS | - | - | - |
GRCh38 GRCh37 |
- | 30 |
FASLG | - | - |
GRCh38 GRCh37 |
199 | 227 | |
GAS5 | - | - |
GRCh38 GRCh37 |
- | 44 | |
GPR52 | - | - |
GRCh38 GRCh37 |
- | 50 |
There are 18 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) |
|
Mar 1, 2022 | RCV002053725.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023