ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p22.1(chr1:91626400-92362203)x3
Germline
Classification
(1)
Uncertain significance
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 | |
C1orf146 | - | - |
GRCh38 GRCh37 |
1 | 13 | |
EPHX4 | - | - |
GRCh38 GRCh37 |
14 | 27 | |
LOC112590826 | - | - | - | GRCh38 | - | 2 |
LOC122094864 | - | - | - | GRCh38 | - | 2 |
LOC122094865 | - | - | - | GRCh38 | - | 2 |
LOC122094866 | - | - | - | GRCh38 | - | 3 |
LOC126805788 | - | - | - | GRCh38 | - | 2 |
There are 10 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Jan 27, 2011 | RCV000135598.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024