ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q13.3-14(chr15:32915722-34671601)x3
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 | |||
GREM1 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
- | 372 | |
ARHGAP11A | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
- | 118 | |
AVEN | - | - |
GRCh38 GRCh37 |
- | - | |
CHRM5 | - | - |
GRCh38 GRCh37 |
- | - | |
EMC4 | - | - |
GRCh38 GRCh37 |
3 | 38 | |
EMC7 | - | - | - |
GRCh38 GRCh37 |
9 | 43 |
GOLGA8A | - | - |
GRCh38 GRCh38 GRCh37 |
19 | 55 | |
KATNBL1 | - | - |
GRCh38 GRCh37 |
18 | 51 | |
LPCAT4 | - | - |
GRCh38 GRCh38 GRCh37 |
25 | 59 | |
NOP10 | - | - |
GRCh38 GRCh38 GRCh37 |
69 | 113 |
There are 5 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
|
Pathogenic (1) |
|
- | RCV002293966.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 30, 2022