ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16p13.11(chr16:14954894-16100721)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
MYH11 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
2008 | 3752 | |
NTAN1 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
- | 205 | |
ABCC1 | - | - |
GRCh38 GRCh38 GRCh37 |
133 | 484 | |
BMERB1 | - | - | - |
GRCh38 GRCh38 GRCh37 |
- | 348 |
CEP20 | - | - |
GRCh38 GRCh38 GRCh37 |
18 | 370 | |
LOC100505915 | - | - | - |
GRCh38 GRCh38 GRCh38 |
- | 84 |
LOC112340377 | - | - | - |
GRCh38 GRCh38 |
- | 77 |
LOC112340378 | - | - | - |
GRCh38 GRCh38 |
- | 84 |
LOC112340379 | - | - | - |
GRCh38 GRCh38 |
- | 137 |
LOC112340380 | - | - | - |
GRCh38 GRCh38 |
- | 137 |
There are 25 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 12, 2011 | RCV000050778.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024