ClinVar Genomic variation as it relates to human health
GRCh37/hg19 11q13.2(chr11:67081259-67471729)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
ACY3 | - | - |
GRCh38 GRCh37 |
26 | 48 | |
AIP | - | - |
GRCh38 GRCh37 |
817 | 1000 | |
ALDH3B2 | - | - |
GRCh38 GRCh37 |
34 | 53 | |
CABP2 | - | - |
GRCh38 GRCh37 |
98 | 116 | |
CABP4 | - | - |
GRCh38 GRCh37 |
380 | 407 | |
CARNS1 | - | - |
GRCh38 GRCh37 |
55 | 86 | |
CDK2AP2 | - | - |
GRCh38 GRCh37 |
7 | 26 | |
CLCF1 | - | - |
GRCh38 GRCh37 |
- | 43 | |
CORO1B | - | - |
GRCh38 GRCh37 |
42 | 73 | |
GPR152 | - | - | - |
GRCh38 GRCh37 |
23 | 47 |
There are 13 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Sep 5, 2018 | RCV000847752.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022