ClinVar Genomic variation as it relates to human health
NC_000022.10:g.(?_29621477)_(30035211_?)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 | |||
NF2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2079 | 2127 | |
AP1B1 | - | - |
GRCh38 GRCh37 |
93 | 124 | |
EMID1 | - | - |
GRCh38 GRCh37 |
26 | 62 | |
EWSR1 | - | - |
GRCh38 GRCh37 |
61 | 93 | |
GAS2L1 | - | - |
GRCh38 GRCh37 |
20 | 51 | |
NEFH | - | - |
GRCh38 GRCh37 |
884 | 915 | |
NIPSNAP1 | - | - |
GRCh38 GRCh37 |
8 | 38 | |
RASL10A | - | - |
GRCh38 GRCh37 |
11 | 42 | |
RFPL1 | - | - |
GRCh38 GRCh37 |
- | 56 | |
RFPL1S | - | - |
GRCh38 GRCh37 |
- | 56 |
There are 2 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 13, 2023 | RCV004582435.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 07, 2024