ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16p13.11(chr16:14897625-16391910)x1
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 |
1786 | 3411 | |
NTAN1 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
- | 211 | |
ABCC1 | - | - |
GRCh38 GRCh38 GRCh37 |
112 | 470 | |
ABCC6 | - | - |
GRCh38 GRCh38 GRCh37 |
1440 | 1806 | |
BMERB1 | - | - | - |
GRCh38 GRCh38 GRCh37 |
- | 352 |
CEP20 | - | - |
GRCh38 GRCh38 GRCh37 |
6 | 363 | |
MARF1 | - | - |
GRCh38 GRCh38 GRCh37 |
26 | 377 | |
MPV17L | - | - |
GRCh38 GRCh38 GRCh37 |
- | 336 | |
NDE1 | - | - |
GRCh38 GRCh38 GRCh37 |
174 | 1797 | |
NOMO1 | - | - |
GRCh38 GRCh38 GRCh37 |
56 | 213 |
There are 5 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Jul 14, 2015 | RCV000512040.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023