ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7p15.3-14.3(chr7:24344104-28879357)x1
Germline
Classification
(1)
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 | |||
CBX3 | - | - |
GRCh38 GRCh37 |
3 | 36 | |
CREB5 | - | - |
GRCh38 GRCh37 |
24 | 50 | |
CYCS | - | - |
GRCh38 GRCh37 |
53 | 84 | |
EVX1 | - | - |
GRCh38 GRCh37 |
- | 59 | |
GSDME | - | - |
GRCh38 GRCh37 |
335 | 384 | |
HIBADH | - | - |
GRCh38 GRCh37 |
19 | 46 | |
HNRNPA2B1 | - | - |
GRCh38 GRCh37 |
311 | 346 | |
HOTAIRM1 | - | - | - |
GRCh38 GRCh37 |
- | 30 |
HOTTIP | - | - |
GRCh38 GRCh37 |
- | 29 | |
HOXA1 | - | - |
GRCh38 GRCh37 |
100 | 138 |
There are 23 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 |
---|---|---|---|---|
Pathogenic (1) |
|
May 22, 2013 | RCV000510695.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024