ClinVar Genomic variation as it relates to human health
NC_000007.14:g.(75058300_?)_(?_79083658)del
Germline
Classification
(1)
Pathogenic
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 | |||
APTR | - | - | GRCh38 | - | 31 | |
CCDC146 | - | - |
GRCh38 GRCh37 |
61 | 94 | |
CCL24 | - | - |
GRCh38 GRCh37 |
4 | 43 | |
CCL26 | - | - |
GRCh38 GRCh37 |
11 | 51 | |
DDX3ILA1 | - | - | - | GRCh38 | - | 8 |
DTX2 | - | - |
GRCh38 GRCh38 GRCh37 |
64 | 92 | |
FGL2 | - | - |
GRCh38 GRCh37 |
- | 31 | |
FPASL | - | - | - | GRCh38 | - | 14 |
GSAP | - | - |
GRCh38 GRCh37 |
52 | 74 | |
GTF2IRD2B | - | - |
GRCh38 GRCh37 |
9 | 51 |
There are 118 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 12, 2021 | RCV001839073.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023