ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3
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 |
1988 | 3711 | |
NTAN1 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
- | 198 | |
ABCC1 | - | - |
GRCh38 GRCh38 GRCh37 |
112 | 461 | |
ABCC6 | - | - |
GRCh38 GRCh38 GRCh37 |
1441 | 1798 | |
ACSM1 | - | - |
GRCh38 GRCh37 |
23 | 54 | |
ACSM2A | - | - |
GRCh38 GRCh37 |
33 | 54 | |
ACSM2B | - | - |
GRCh38 GRCh37 |
24 | 45 | |
ACSM3 | - | - |
GRCh38 GRCh37 |
6 | 80 | |
ACSM5 | - | - |
GRCh38 GRCh37 |
26 | 47 | |
ANKS4B | - | - |
GRCh38 GRCh38 GRCh37 |
7 | 26 |
There are 392 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) |
|
Aug 12, 2011 | RCV000051828.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023