ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16p13.11(chr16:14968855-16251122)x1
Germline
Classification
(1)
risk factor
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 |
2007 | 3748 | |
NTAN1 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
- | 203 | |
ABCC1 | - | - |
GRCh38 GRCh38 GRCh37 |
133 | 482 | |
ABCC6 | - | - |
GRCh38 GRCh38 GRCh37 |
1445 | 1802 | |
BMERB1 | - | - | - |
GRCh38 GRCh38 GRCh37 |
- | 346 |
CEP20 | - | - |
GRCh38 GRCh38 GRCh37 |
18 | 368 | |
MARF1 | - | - |
GRCh38 GRCh38 GRCh37 |
90 | 434 | |
MPV17L | - | - |
GRCh38 GRCh38 GRCh37 |
- | 330 | |
NDE1 | - | - |
GRCh38 GRCh38 GRCh37 |
178 | 1919 | |
NOMO1 | - | - |
GRCh38 GRCh38 GRCh37 |
75 | 228 |
There are 4 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
risk factor (1) |
|
Dec 18, 2020 | RCV001281366.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023