ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q13.1-14(chr15:28709714-34506805)x3
Germline
Classification
(1)
Likely 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 | |||
CHRNA7 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
123 | 388 | |
GREM1 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
300 | 370 | |
OTUD7A | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh37 |
86 | 349 | |
APBA2 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
82 | 233 | |
ARHGAP11A | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
- | 118 | |
ARHGAP11B | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
15 | 186 | |
AVEN | - | - |
GRCh38 GRCh37 |
17 | 209 | |
CHRFAM7A | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
13 | 132 | |
CHRM5 | - | - |
GRCh38 GRCh37 |
- | 70 | |
EMC7 | - | - | - |
GRCh38 GRCh37 |
9 | 43 |
There are 17 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Sep 11, 2019 | RCV001258590.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023