ClinVar Genomic variation as it relates to human health
GRCh38/hg38 12q15-21.2(chr12:68011417-75383054)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 | |||
CNOT2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
28 | 46 | |
ATXN7L3B | - | - |
GRCh38 GRCh37 |
6 | 19 | |
BEST3 | - | - |
GRCh38 GRCh37 |
37 | 49 | |
CAPS2 | - | - |
GRCh38 GRCh37 |
43 | 71 | |
CCT2 | - | - |
GRCh38 GRCh37 |
318 | 338 | |
CPM | - | - |
GRCh38 GRCh37 |
24 | 34 | |
CPSF6 | - | - |
GRCh38 GRCh37 |
20 | 31 | |
FRS2 | - | - |
GRCh38 GRCh37 |
27 | 39 | |
GLIPR1L1 | - | - |
GRCh38 GRCh37 |
- | 28 | |
IFNG | - | - |
GRCh38 GRCh37 |
38 | 50 |
There are 133 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 |
---|---|---|---|---|
See cases
|
Likely pathogenic (1) |
|
Jan 27, 2011 | RCV000135587.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024