ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1q21.1-21.2(chr1:146355224-148494171)x3
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 | |||
GJA5 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
217 | 573 | |
GJA8 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
233 | 520 | |
CHD1L | No evidence available | No evidence available |
GRCh38 GRCh37 |
158 | 520 | |
ACP6 | - | - |
GRCh38 GRCh37 |
31 | 318 | |
BCL9 | - | - |
GRCh38 GRCh37 |
96 | 383 | |
CH17-408M7.1 | - | - | - | GRCh38 | - | 53 |
FMO5 | - | - |
GRCh38 GRCh37 |
- | 338 | |
GPR89B | - | - |
GRCh38 GRCh37 |
10 | 287 | |
LINC00624 | - | - | - | GRCh38 | 1 | 122 |
LINC01138 | - | - | - | GRCh38 | 1 | 84 |
There are 49 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
|
Pathogenic (1) |
|
Nov 30, 2010 | RCV000135345.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023