ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16p13.11(chr16:15126890-16293190)x3
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 |
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 | |
BMERB1 | - | - | - |
GRCh38 GRCh38 GRCh37 |
- | 344 |
CEP20 | - | - |
GRCh38 GRCh38 GRCh37 |
3 | 351 | |
MARF1 | - | - |
GRCh38 GRCh38 GRCh37 |
26 | 370 | |
MPV17L | - | - |
GRCh38 GRCh38 GRCh37 |
- | 327 | |
NDE1 | - | - |
GRCh38 GRCh38 GRCh37 |
175 | 1898 | |
NPIPA5 | - | - | - |
GRCh38 GRCh38 GRCh37 |
2 | 259 |
There are 2 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) |
|
Feb 25, 2021 | RCV001293648.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2023