ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957)
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 | |||
GLMN | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
109 | 143 | |
DIRAS3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | 37 | |
ACADM | - | - |
GRCh38 GRCh37 |
858 | 894 | |
ADGRL2 | - | - |
GRCh38 GRCh37 |
78 | 96 | |
ADGRL4 | - | - |
GRCh38 GRCh37 |
33 | 54 | |
AK5 | - | - |
GRCh38 GRCh37 |
31 | 55 | |
ANKRD13C | - | - |
GRCh38 GRCh37 |
3 | 39 | |
ASB17 | - | - |
GRCh38 GRCh37 |
12 | 38 | |
BARHL2 | - | - |
GRCh38 GRCh37 |
14 | 23 | |
BCL10 | - | - |
GRCh38 GRCh37 |
92 | 127 |
There are 89 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 1, 2022 | RCV002053392.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023