ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12q12-13.11(chr12:44661149-48921204)x1
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
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 | |||
ARID2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
366 | 397 | |
COL2A1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2859 | 2871 | |
AMIGO2 | - | - |
GRCh38 GRCh37 |
32 | 43 | |
ANO6 | - | - |
GRCh38 GRCh37 |
256 | 271 | |
ANP32D | - | - |
GRCh38 GRCh37 |
- | 20 | |
ASB8 | - | - |
GRCh38 GRCh37 |
20 | 30 | |
C12orf54 | - | - | - |
GRCh38 GRCh37 |
1 | 21 |
CCDC184 | - | - | - |
GRCh38 GRCh37 |
15 | 24 |
DBX2 | - | - | - |
GRCh38 GRCh37 |
30 | 43 |
ENDOU | - | - |
GRCh38 GRCh37 |
- | 33 |
There are 19 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Jan 13, 2022 | RCV002291537.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 09, 2023