ClinVar Genomic variation as it relates to human health
GRCh38/hg38 15q13.3-14(chr15:32607298-35200429)x3
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 | |||
ACTC1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3 | 789 | |
GREM1 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
300 | 370 | |
AQR | - | - |
GRCh38 GRCh37 |
45 | 68 | |
ARHGAP11A | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
- | 118 | |
ARHGAP11A-DT | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 |
- | 23 |
ARHGAP11A-SCG5 | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 |
- | 116 |
AVEN | - | - |
GRCh38 GRCh37 |
17 | 209 | |
CHRM5 | - | - |
GRCh38 GRCh37 |
- | 70 | |
DPH6 | - | - |
GRCh38 GRCh37 |
14 | 37 | |
EMC4 | - | - |
GRCh38 GRCh37 |
3 | 38 |
There are 85 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000051157.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024