ClinVar Genomic variation as it relates to human health
GRCh37/hg19 11q22.3-23.3(chr11:109328787-116414966)x1
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 |
648 | 786 | |
ALG9 | - | - |
GRCh38 GRCh37 |
285 | 332 | |
ANKK1 | - | - |
GRCh38 GRCh37 |
89 | 105 | |
ARHGAP20 | - | - |
GRCh38 GRCh37 |
58 | 72 | |
BCO2 | - | - |
GRCh38 GRCh37 |
35 | 53 | |
BTG4 | - | - |
GRCh38 GRCh37 |
18 | 38 | |
C11orf52 | - | - | - |
GRCh38 GRCh37 |
- | 26 |
C11orf71 | - | - | - |
GRCh38 GRCh37 |
1 | 18 |
CADM1 | - | - |
GRCh38 GRCh37 |
30 | 55 | |
CFAP68 | - | - | - |
GRCh38 GRCh37 |
1 | 24 |
There are 42 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) |
|
Jun 17, 2022 | RCV002474547.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023