ClinVar Genomic variation as it relates to human health
NC_000011.9:g.(?_111171709)_(111959745_?)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 | |||
SDHD | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
642 | 778 | |
ALG9 | - | - |
GRCh38 GRCh37 |
282 | 328 | |
BTG4 | - | - |
GRCh38 GRCh37 |
16 | 36 | |
C11orf52 | - | - | - |
GRCh38 GRCh37 |
- | 25 |
CFAP68 | - | - | - |
GRCh38 GRCh37 |
- | 23 |
CRYAB | - | - |
GRCh38 GRCh37 |
268 | 302 | |
DIXDC1 | - | - |
GRCh38 GRCh37 |
14 | 39 | |
DLAT | - | - |
GRCh38 GRCh37 |
250 | 330 | |
FDXACB1 | - | - | - |
GRCh38 GRCh37 |
27 | 50 |
HOATZ | - | - | - |
GRCh38 GRCh37 |
- | 20 |
There are 12 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) |
|
Aug 3, 2022 | RCV003113183.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023