ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16p13.11-12.3(chr16:14816348-18658403)x1
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 |
2028 | 3792 | |
NTAN1 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
- | 208 | |
ABCC1 | - | - |
GRCh38 GRCh38 GRCh37 |
140 | 495 | |
ABCC6 | - | - |
GRCh38 GRCh38 GRCh37 |
1459 | 1822 | |
BMERB1 | - | - | - |
GRCh38 GRCh38 GRCh37 |
- | 351 |
CEP20 | - | - |
GRCh38 GRCh38 GRCh37 |
19 | 375 | |
LOC100288162 | - | - | - |
GRCh38 GRCh38 |
- | 70 |
LOC100505915 | - | - | - |
GRCh38 GRCh38 GRCh38 |
- | 84 |
LOC102723692 | - | - | - |
GRCh38 GRCh38 |
- | 139 |
LOC111365165 | - | - | - |
GRCh38 GRCh38 |
- | 51 |
There are 88 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
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000050970.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024