ClinVar Genomic variation as it relates to human health
GRCh37/hg19 22q13.31-13.32(chr22:46406694-48524541)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 | |||
CDPF1 | - | - | - |
GRCh38 GRCh37 |
8 | 94 |
CELSR1 | - | - |
GRCh38 GRCh37 |
459 | 597 | |
CERK | - | - |
GRCh38 GRCh37 |
46 | 151 | |
GRAMD4 | - | - |
GRCh38 GRCh37 |
37 | 135 | |
GTSE1 | - | - |
GRCh38 GRCh37 |
66 | 158 | |
MIRLET7A3 | - | - |
GRCh38 GRCh37 |
- | 84 | |
MIRLET7B | - | - |
GRCh38 GRCh37 |
- | 84 | |
PKDREJ | - | - |
GRCh38 GRCh37 |
131 | 217 | |
PPARA | - | - |
GRCh38 GRCh37 |
26 | 113 | |
PRR34 | - | - | - |
GRCh38 GRCh37 |
- | 83 |
There are 3 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 |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Oct 22, 2014 | RCV000512399.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024