ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q13.1-13.3(chr15:28540415-32446830)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 | |||
CHRNA7 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
124 | 390 | |
OTUD7A | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh37 |
86 | 350 | |
APBA2 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
82 | 233 | |
ARHGAP11B | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
15 | 186 | |
CHRFAM7A | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
13 | 132 | |
ENTREP2 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
44 | 369 | |
FAN1 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
159 | 546 | |
GOLGA8H | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
- | 141 |
GOLGA8J | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
3 | 121 |
GOLGA8M | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
7 | 149 |
There are 7 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 16, 2022 | RCV002474549.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023