ClinVar Genomic variation as it relates to human health
NC_000022.10:g.(?_29105984)_(30337586_?)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 | |||
CHEK2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
4050 | 4106 | |
NF2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2083 | 2131 | |
AP1B1 | - | - |
GRCh38 GRCh37 |
97 | 128 | |
ASCC2 | - | - |
GRCh38 GRCh37 |
53 | 79 | |
C22orf31 | - | - | - |
GRCh38 GRCh37 |
4 | 36 |
CABP7 | - | - |
GRCh38 GRCh37 |
14 | 43 | |
CCDC117 | - | - | - |
GRCh38 GRCh37 |
23 | 54 |
EMID1 | - | - |
GRCh38 GRCh37 |
26 | 62 | |
EWSR1 | - | - |
GRCh38 GRCh37 |
61 | 93 | |
GAS2L1 | - | - |
GRCh38 GRCh37 |
20 | 51 |
There are 14 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jan 21, 2021 | RCV001390747.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024