ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16p13.11(chr16:15355839-16294739)x1
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 | |||
MYH11 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
2007 | 3748 | |
ABCC1 | - | - |
GRCh38 GRCh38 GRCh37 |
133 | 482 | |
ABCC6 | - | - |
GRCh38 GRCh38 GRCh37 |
1445 | 1802 | |
BMERB1 | - | - | - |
GRCh38 GRCh38 GRCh37 |
- | 346 |
CEP20 | - | - |
GRCh38 GRCh38 GRCh37 |
18 | 368 | |
LOC112340379 | - | - | - |
GRCh38 GRCh38 |
- | 135 |
LOC112340380 | - | - | - |
GRCh38 GRCh38 |
- | 135 |
LOC112340381 | - | - | - |
GRCh38 GRCh38 |
- | 135 |
LOC112340382 | - | - | - |
GRCh38 GRCh38 |
- | 136 |
LOC112340383 | - | - | - |
GRCh38 GRCh38 |
- | 101 |
There are 18 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) |
|
Mar 4, 2013 | RCV000143230.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024