ClinVar Genomic variation as it relates to human health
NC_000019.9:g.(?_49472545)_(49714755_?)del
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 | |||
C19orf73 | - | - | - |
GRCh38 GRCh37 |
- | 11 |
CGB1 | - | - |
GRCh38 GRCh37 |
18 | 32 | |
CGB2 | - | - |
GRCh38 GRCh37 |
15 | 29 | |
CGB3 | - | - |
GRCh38 GRCh37 |
5 | 18 | |
CGB5 | - | - |
GRCh38 GRCh37 |
14 | 27 | |
CGB7 | - | - |
GRCh38 GRCh37 |
21 | 33 | |
CGB8 | - | - |
GRCh38 GRCh37 |
24 | 37 | |
GYS1 | - | - |
GRCh38 GRCh37 |
591 | 656 | |
HRC | - | - |
GRCh38 GRCh37 |
44 | 64 | |
KCNA7 | - | - |
GRCh38 GRCh37 |
33 | 44 |
There are 7 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) |
|
Nov 9, 2021 | RCV003119771.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 10, 2024