ClinVar Genomic variation as it relates to human health
GRCh38/hg38 15q13.2-13.3(chr15:30438310-32607357)x3
Germline
Classification
(2)
Conflicting classifications of pathogenicity
Pathogenic(1); Uncertain significance(1)
Pathogenic(1); Uncertain significance(1)
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 | |
ARHGAP11A-DT | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 |
- | 23 |
ARHGAP11B-DT | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 |
- | 66 |
FAN1 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
159 | 546 | |
GOLGA8H | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
- | 141 |
GOLGA8K | - | - | - |
GRCh38 GRCh38 |
8 | 40 |
GOLGA8N | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
- | 61 |
GOLGA8O | - | - | - |
GRCh38 GRCh38 GRCh37 |
1 | 74 |
There are 30 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
|
Conflicting interpretations of pathogenicity (2) |
|
Dec 22, 2010 | RCV000135452.8 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024