ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856)
Germline
Classification
(1)
Likely 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 | |||
FOXE3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | 422 | |
AGBL4 | - | - |
GRCh38 GRCh37 |
55 | 100 | |
AKR1A1 | - | - |
GRCh38 GRCh37 |
17 | 36 | |
ATPAF1 | - | - |
GRCh38 GRCh37 |
9 | 17 | |
BEND5 | - | - | - |
GRCh38 GRCh37 |
- | 34 |
C1orf185 | - | - | - |
GRCh38 GRCh37 |
3 | 16 |
CCDC17 | - | - | - |
GRCh38 GRCh37 |
53 | 73 |
CDKN2C | - | - |
GRCh38 GRCh37 |
9 | 24 | |
CMPK1 | - | - |
GRCh38 GRCh37 |
2 | 11 | |
CYP4A11 | - | - |
GRCh38 GRCh37 |
32 | 39 |
There are 50 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Mar 1, 2022 | RCV002053281.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023