ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q13.2-13.3(chr15:30943903-32510863)
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
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 | |||
CHRNA7 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
123 | 388 | |
OTUD7A | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh37 |
86 | 349 | |
FAN1 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
158 | 544 | |
KLF13 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
40 | 261 | |
MIR211 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
- | 241 | |
MTMR10 | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
21 | 408 |
TRPM1 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
1185 | 1510 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Oct 1, 2020 | RCV001291969.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023