ClinVar Genomic variation as it relates to human health
GRCh38/hg38 15q13.1-13.3(chr15:28730988-32275124)x3
Germline
Classification
(1)
Uncertain significance
no assertion criteria provided
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 | |||
ARHGAP11B | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
22 | 196 | ||
CHRNA7 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
133 | 399 | |
OTUD7A | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh37 |
113 | 378 | |
APBA2 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
99 | 251 | |
ARHGAP11B-DT | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 |
- | 66 |
CHRFAM7A | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
21 | 142 | |
ENTREP2 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
64 | 391 | |
FAN1 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
182 | 594 | |
GOLGA6L7 | - | - | - |
GRCh38 GRCh38 |
1 | 54 |
GOLGA8H | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
- | 143 |
There are 44 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Jul 2, 2012 | RCV000138268.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024