ClinVar Genomic variation as it relates to human health
GRCh38/hg38 12q14.3-15(chr12:65445176-71026337)x1
Germline
Classification
(1)
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 | |
HMGA2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
30 | 45 | |
GRIP1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
662 | 678 | |
BEST3 | - | - |
GRCh38 GRCh37 |
37 | 49 | |
CAND1 | - | - |
GRCh38 GRCh37 |
25 | 35 | |
CCT2 | - | - |
GRCh38 GRCh37 |
318 | 338 | |
CPM | - | - |
GRCh38 GRCh37 |
24 | 34 | |
CPSF6 | - | - |
GRCh38 GRCh37 |
20 | 31 | |
DYRK2 | - | - |
GRCh38 GRCh37 |
21 | 35 | |
FRS2 | - | - |
GRCh38 GRCh37 |
27 | 39 |
There are 155 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
|
Pathogenic (1) |
|
Aug 18, 2010 | RCV000142445.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024