ClinVar Genomic variation as it relates to human health
GRCh38/hg38 12q13.13(chr12:52748391-52950618)x3
Germline
Classification
(1)
Likely benign
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 | |||
KRT18 | - | - |
GRCh38 GRCh37 |
- | 53 | |
KRT3 | - | - |
GRCh38 GRCh37 |
71 | 100 | |
KRT4 | - | - |
GRCh38 GRCh37 |
137 | 147 | |
KRT76 | - | - |
GRCh38 GRCh37 |
51 | 61 | |
KRT78 | - | - |
GRCh38 GRCh37 |
53 | 63 | |
KRT79 | - | - |
GRCh38 GRCh37 |
22 | 32 | |
KRT8 | - | - |
GRCh38 GRCh37 |
62 | 86 | |
LOC106096416 | - | - | - | GRCh38 | - | 49 |
LOC124629360 | - | - | - | GRCh38 | - | 4 |
LOC124629361 | - | - | - | GRCh38 | - | 4 |
There are 7 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Likely benign (1) |
|
Sep 21, 2012 | RCV000138642.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024