ClinVar Genomic variation as it relates to human health
GRCh38/hg38 12p12.3-12.1(chr12:19265334-25482589)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 | |||
SOX5 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
237 | 287 | |
KRAS | No evidence available | No evidence available |
GRCh38 GRCh37 |
463 | 520 | |
ABCC9 | - | - |
GRCh38 GRCh37 |
1732 | 1776 | |
AEBP2 | - | - |
GRCh38 GRCh37 |
23 | 72 | |
BCAT1 | - | - |
GRCh38 GRCh37 |
31 | 75 | |
C2CD5 | - | - |
GRCh38 GRCh37 |
49 | 85 | |
CMAS | - | - |
GRCh38 GRCh37 |
17 | 57 | |
DNAI7 | - | - |
GRCh38 GRCh37 |
46 | 91 | |
ETFRF1 | - | - | - |
GRCh38 GRCh37 |
1 | 36 |
ETNK1 | - | - |
GRCh38 GRCh37 |
13 | 54 |
There are 125 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 | RCV000135588.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024