ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q13.2-13.3(chr15:30921917-32514980)x1
Germline
Classification
(1)
Pathogenic
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 | |
FAN1 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
165 | 558 | |
GOLGA8H | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
- | 141 |
KLF13 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
44 | 266 | |
MIR211 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
- | 242 | |
MTMR10 | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
23 | 417 |
TRPM1 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
1188 | 1514 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
May 10, 2022 | RCV003159298.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 09, 2023