ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7q21.2-21.3(chr7:92945146-94512098)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 | |||
COL1A2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
2054 | 2075 | |
BET1 | - | - |
GRCh38 GRCh37 |
7 | 27 | |
BET1-AS1 | - | - | - | GRCh38 | - | 4 |
CALCR | - | - |
GRCh38 GRCh37 |
89 | 110 | |
CASD1 | - | - |
GRCh38 GRCh37 |
28 | 615 | |
COL1A2-AS1 | - | - | - | GRCh38 | - | 6 |
GNG11 | - | - |
GRCh38 GRCh37 |
- | 22 | |
GNGT1 | - | - |
GRCh38 GRCh37 |
2 | 25 | |
HEPACAM2 | - | - |
GRCh38 GRCh37 |
35 | 53 | |
LOC110121164 | - | - | - | GRCh38 | - | 4 |
There are 25 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Apr 5, 2012 | RCV000137564.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024