ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p22.1(chr1:92405898-94018197)x1
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
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 |
113 | 153 | |
BRDT | - | - |
GRCh38 GRCh37 |
51 | 64 | |
BTBD8 | - | - |
GRCh38 GRCh37 |
18 | 30 | |
BTBD8 | - | - |
GRCh38 GRCh37 |
18 | 30 | |
C1orf146 | - | - |
GRCh38 GRCh37 |
1 | 13 | |
CCDC18 | - | - | - |
GRCh38 GRCh37 |
90 | 97 |
DIPK1A | - | - |
GRCh38 GRCh37 |
19 | 295 | |
DR1 | - | - |
GRCh38 GRCh37 |
3 | 9 | |
EPHX4 | - | - |
GRCh38 GRCh37 |
14 | 27 | |
EVI5 | - | - |
GRCh38 GRCh37 |
56 | 65 |
There are 7 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) |
|
- | RCV001263220.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022