ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12q21.32-21.33(chr12:87654236-91893923)x1
Germline
Classification
(1)
Uncertain significance
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 | |||
ATP2B1 | - | - |
GRCh38 GRCh37 |
88 | 99 | |
C12orf29 | - | - | - |
GRCh38 GRCh37 |
- | 7 |
C12orf50 | - | - | - |
GRCh38 GRCh37 |
4 | 17 |
CCER1 | - | - | - |
GRCh38 GRCh37 |
15 | 32 |
CEP290 | - | - |
GRCh38 GRCh37 |
3537 | 3703 | |
DCN | - | - |
GRCh38 GRCh37 |
67 | 81 | |
DUSP6 | - | - |
GRCh38 GRCh37 |
60 | 74 | |
EPYC | - | - |
GRCh38 GRCh37 |
35 | 50 | |
GALNT4 | - | - |
GRCh38 GRCh37 |
- | 54 | |
KERA | - | - |
GRCh38 GRCh37 |
48 | 62 |
There are 5 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Oct 10, 2017 | RCV000683472.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022