ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16p13.11-12.3(chr16:15060830-18535437)x3
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 |
1988 | 3711 | |
ABCC1 | - | - |
GRCh38 GRCh38 GRCh37 |
112 | 461 | |
ABCC6 | - | - |
GRCh38 GRCh38 GRCh37 |
1441 | 1798 | |
BMERB1 | - | - | - |
GRCh38 GRCh38 GRCh37 |
- | 344 |
CEP20 | - | - |
GRCh38 GRCh38 GRCh37 |
3 | 351 | |
LOC100505915 | - | - | - |
GRCh38 GRCh38 GRCh38 |
- | 82 |
LOC102723692 | - | - | - |
GRCh38 GRCh38 |
- | 139 |
LOC111365165 | - | - | - |
GRCh38 GRCh38 |
- | 51 |
LOC112340378 | - | - | - |
GRCh38 GRCh38 |
- | 82 |
LOC112340379 | - | - | - |
GRCh38 GRCh38 |
- | 135 |
There are 75 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) |
|
Oct 14, 2010 | RCV000136807.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023