ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148352084)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 |
219 | 577 | |
GJA8 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
247 | 536 | |
CHD1L | No evidence available | No evidence available |
GRCh38 GRCh37 |
164 | 536 | |
ACP6 | - | - |
GRCh38 GRCh37 |
33 | 322 | |
BCL9 | - | - |
GRCh38 GRCh37 |
117 | 406 | |
FMO5 | - | - |
GRCh38 GRCh37 |
- | 342 | |
GPR89B | - | - |
GRCh38 GRCh37 |
10 | 288 | |
LINC00624 | - | - | - | GRCh38 | 1 | 124 |
LINC01731 | - | - | - | GRCh38 | - | 113 |
LINC02805 | - | - | - | GRCh38 | - | 120 |
There are 41 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) |
|
Sep 21, 2012 | RCV000138637.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024