ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12p12.3-11.23(chr12:16141429-27733325)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 | |||
SOX5 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
225 | 275 | |
KRAS | No evidence available | No evidence available |
GRCh38 GRCh37 |
458 | 515 | |
ABCC9 | - | - |
GRCh38 GRCh37 |
1711 | 1754 | |
AEBP2 | - | - |
GRCh38 GRCh37 |
19 | 68 | |
BCAT1 | - | - |
GRCh38 GRCh37 |
29 | 73 | |
BHLHE41 | - | - |
GRCh38 GRCh37 |
- | 76 | |
BMAL2 | - | - |
GRCh38 GRCh37 |
13 | 83 | |
C12orf71 | - | - | - |
GRCh38 GRCh37 |
1 | 30 |
C2CD5 | - | - |
GRCh38 GRCh37 |
45 | 81 | |
CAPZA3 | - | - |
GRCh38 GRCh37 |
18 | 52 |
There are 40 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) |
|
Apr 25, 2018 | RCV000849815.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023