ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16p13.11(chr16:14887031-16308753)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 |
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 | |
MARF1 | - | - |
GRCh38 GRCh38 GRCh37 |
106 | 455 | |
MPV17L | - | - |
GRCh38 GRCh38 GRCh37 |
- | 341 | |
NDE1 | - | - |
GRCh38 GRCh38 GRCh37 |
183 | 1947 | |
NOMO1 | - | - |
GRCh38 GRCh38 GRCh37 |
89 | 245 |
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 |
---|---|---|---|---|
Pathogenic (1) |
|
Jun 21, 2019 | RCV001537889.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 09, 2023