ClinVar Genomic variation as it relates to human health
NC_000011.9:g.(?_111171709)_(111965694_?)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 |
655 | 796 | |
ALG9 | - | - |
GRCh38 GRCh37 |
286 | 333 | |
BTG4 | - | - |
GRCh38 GRCh37 |
19 | 39 | |
C11orf52 | - | - | - |
GRCh38 GRCh37 |
- | 26 |
CFAP68 | - | - | - |
GRCh38 GRCh37 |
1 | 24 |
CRYAB | - | - |
GRCh38 GRCh37 |
276 | 312 | |
DIXDC1 | - | - |
GRCh38 GRCh37 |
25 | 50 | |
DLAT | - | - |
GRCh38 GRCh37 |
262 | 343 | |
FDXACB1 | - | - | - |
GRCh38 GRCh37 |
47 | 70 |
HOATZ | - | - | - |
GRCh38 GRCh37 |
2 | 22 |
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) |
|
Sep 18, 2019 | RCV001032115.8 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 25, 2024