ClinVar Genomic variation as it relates to human health
NC_000022.10:g.(?_29083885)_(30090791_?)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 |
4004 | 4059 | |
NF2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2037 | 2085 | |
AP1B1 | - | - |
GRCh38 GRCh37 |
88 | 119 | |
C22orf31 | - | - | - |
GRCh38 GRCh37 |
4 | 36 |
CCDC117 | - | - | - |
GRCh38 GRCh37 |
21 | 52 |
EMID1 | - | - |
GRCh38 GRCh37 |
24 | 59 | |
EWSR1 | - | - |
GRCh38 GRCh37 |
53 | 85 | |
GAS2L1 | - | - |
GRCh38 GRCh37 |
17 | 48 | |
HSCB | - | - |
GRCh38 GRCh37 |
20 | 54 | |
KREMEN1 | - | - |
GRCh38 GRCh37 |
54 | 86 |
There are 9 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) |
|
May 31, 2023 | RCV004582379.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 07, 2024