ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q11.2(chr2:97634165-97841153)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
ACTR1B | - | - |
GRCh38 GRCh38 GRCh37 |
28 | 51 | |
C2orf92 | - | - | - |
GRCh38 GRCh38 |
- | 7 |
COX5B | - | - |
GRCh38 GRCh38 GRCh37 |
4 | 31 | |
LOC126806276 | - | - | - |
GRCh38 GRCh38 |
- | 7 |
LOC129934385 | - | - | - |
GRCh38 GRCh38 |
- | 10 |
LOC129934386 | - | - | - |
GRCh38 GRCh38 |
- | 6 |
LOC129934387 | - | - | - |
GRCh38 GRCh38 |
- | 6 |
LOC129934388 | - | - | - |
GRCh38 GRCh38 |
- | 6 |
LOC129934389 | - | - | - |
GRCh38 GRCh38 |
- | 7 |
LOC129934390 | - | - | - |
GRCh38 GRCh38 |
- | 7 |
There are 5 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 |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Aug 12, 2011 | RCV000052667.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023