ClinVar Genomic variation as it relates to human health
NC_000016.10:g.(?_15328439)_(16443962_?)del
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 | |||
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 27 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 20, 2018 | RCV000754176.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 20, 2024