ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q13.2-13.3(chr15:30913573-32914239)x1
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 | |||
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 | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
- | 118 | |
FAN1 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
159 | 546 | |
GOLGA8N | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
- | 61 |
GOLGA8O | - | - | - |
GRCh38 GRCh38 GRCh37 |
1 | 74 |
KLF13 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
40 | 262 | |
MIR211 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
- | 242 | |
MTMR10 | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
21 | 409 |
There is 1 more gene 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 |
---|---|---|---|---|
Pathogenic (1) |
|
- | RCV003987087.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024