ClinVar Genomic variation as it relates to human health
GRCh38/hg38 22q13.31(chr22:45954698-47245325)x3
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
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 | 93 |
CELSR1 | - | - |
GRCh38 GRCh37 |
452 | 589 | |
CERK | - | - |
GRCh38 GRCh37 |
46 | 151 | |
GRAMD4 | - | - |
GRCh38 GRCh37 |
37 | 135 | |
GTSE1 | - | - |
GRCh38 GRCh37 |
66 | 157 | |
GTSE1-DT | - | - | - | GRCh38 | - | 42 |
LINC00899 | - | - | - | GRCh38 | - | 36 |
LINC02925 | - | - | - | GRCh38 | - | 45 |
LINC02939 | - | - | - | GRCh38 | - | 37 |
LOC111828508 | - | - | - | GRCh38 | - | 36 |
There are 91 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 12, 2011 | RCV000052891.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023