ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16p13.11(chr16:15187330-16281234)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 |
2033 | 3802 | |
ABCC1 | - | - |
GRCh38 GRCh38 GRCh37 |
140 | 495 | |
ABCC6 | - | - |
GRCh38 GRCh38 GRCh37 |
1469 | 1832 | |
BMERB1 | - | - | - |
GRCh38 GRCh38 GRCh37 |
- | 351 |
CEP20 | - | - |
GRCh38 GRCh38 GRCh37 |
19 | 375 | |
LOC112340379 | - | - | - |
GRCh38 GRCh38 |
- | 137 |
LOC112340380 | - | - | - |
GRCh38 GRCh38 |
- | 137 |
LOC112340381 | - | - | - |
GRCh38 GRCh38 |
- | 137 |
LOC112340382 | - | - | - |
GRCh38 GRCh38 |
- | 138 |
LOC112340383 | - | - | - |
GRCh38 GRCh38 |
- | 103 |
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 |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Aug 12, 2011 | RCV000053097.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024