ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q13.3-14(chr15:32914238-34879217)x1
Germline
Classification
(1)
Uncertain significance
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 |
- | - | |
AVEN | - | - |
GRCh38 GRCh37 |
- | - | |
CHRM5 | - | - |
GRCh38 GRCh37 |
- | 70 | |
EMC4 | - | - |
GRCh38 GRCh37 |
3 | - | |
EMC7 | - | - | - |
GRCh38 GRCh37 |
9 | 43 |
GOLGA8A | - | - |
GRCh38 GRCh38 GRCh37 |
- | 55 | |
GOLGA8B | - | - |
GRCh38 GRCh37 |
- | - | |
KATNBL1 | - | - |
GRCh38 GRCh37 |
- | 51 | |
LPCAT4 | - | - |
GRCh38 GRCh38 GRCh37 |
25 | 59 |
There are 6 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Feb 22, 2020 | RCV001259203.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022