ClinVar Genomic variation as it relates to human health
GRCh38/hg38 15q13.1-13.3(chr15:28744504-32275124)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 |
15 | 186 | ||
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-DT | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 |
- | 66 |
CHRFAM7A | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
13 | 132 | |
ENTREP2 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
44 | 369 | |
FAN1 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
159 | 546 | |
GOLGA6L7 | - | - | - |
GRCh38 GRCh38 |
1 | 54 |
GOLGA8H | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
- | 141 |
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) |
|
Apr 2, 2012 | RCV000138283.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024