ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1q22-23.1(chr1:156256495-156681863)x1
Germline
Classification
(1)
Likely 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 | |||
BCAN | - | - |
GRCh38 GRCh38 GRCh37 |
- | 82 | |
BCAN-AS1 | - | - | - | GRCh38 | - | 66 |
BCAN-AS2 | - | - | - |
GRCh38 GRCh38 |
- | 66 |
CCT3 | - | - |
GRCh38 GRCh37 |
32 | 53 | |
GLMP | - | - |
GRCh38 GRCh37 |
30 | 52 | |
GPATCH4 | - | - | - |
GRCh38 GRCh38 GRCh37 |
24 | 48 |
HAPLN2 | - | - |
GRCh38 GRCh38 GRCh37 |
19 | 40 | |
IQGAP3 | - | - | - |
GRCh38 GRCh38 GRCh37 |
147 | 168 |
LOC101928177 | - | - | - |
GRCh38 GRCh38 |
- | 4 |
LOC110121221 | - | - | - | GRCh38 | - | 3 |
There are 39 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Jun 1, 2012 | RCV000138561.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024