ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16p13.11(chr16:15375912-16390970)x1
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 |
2011 | 3763 | |
ABCC1 | - | - |
GRCh38 GRCh38 GRCh37 |
133 | 488 | |
ABCC6 | - | - |
GRCh38 GRCh38 GRCh37 |
1452 | 1815 | |
BMERB1 | - | - | - |
GRCh38 GRCh38 GRCh37 |
- | 351 |
CEP20 | - | - |
GRCh38 GRCh38 GRCh37 |
18 | 374 | |
MARF1 | - | - |
GRCh38 GRCh38 GRCh37 |
90 | 439 | |
MPV17L | - | - |
GRCh38 GRCh38 GRCh37 |
- | 335 | |
NDE1 | - | - |
GRCh38 GRCh38 GRCh37 |
179 | 1931 | |
NOMO3 | - | - |
GRCh38 GRCh38 GRCh37 |
31 | 303 | |
NPIPA5 | - | - | - |
GRCh38 GRCh38 GRCh37 |
2 | 263 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
May 29, 2023 | RCV001834196.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024