ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q13.2-13.3(chr15:30730511-32914199)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 |
17 | 189 | ||
CHRNA7 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
127 | 393 | |
OTUD7A | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh37 |
96 | 360 | |
ARHGAP11A | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
- | 123 | |
FAN1 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
165 | 558 | |
GOLGA8H | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
- | 141 |
GOLGA8N | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
- | 61 |
GOLGA8O | - | - | - |
GRCh38 GRCh38 GRCh37 |
1 | 74 |
KLF13 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
44 | 266 | |
MIR211 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
- | 242 |
There are 3 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 |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Jan 29, 2024 | RCV003493284.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 14, 2024