ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q32.1-33.1(chr2:188294864-197731939)x3
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 | |||
COL3A1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
3009 | 3135 | |
STAT1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
618 | 661 | |
ANKAR | - | - |
GRCh38 GRCh37 |
82 | 132 | |
ASNSD1 | - | - |
GRCh38 GRCh37 |
32 | 64 | |
C2orf66 | - | - | - |
GRCh38 GRCh37 |
- | 35 |
C2orf88 | - | - |
GRCh38 GRCh37 |
- | 107 | |
CALCRL | - | - |
GRCh38 GRCh37 |
1 | 49 | |
CAVIN2 | - | - |
GRCh38 GRCh37 |
27 | 65 | |
CCDC150 | - | - | - |
GRCh38 GRCh37 |
58 | 101 |
COL5A2 | - | - |
GRCh38 GRCh37 |
1773 | 1808 |
There are 26 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Jul 24, 2019 | RCV001258567.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023