ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16p13.11(chr16:15481748-16391045)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 |
2008 | 3752 | |
ABCC1 | - | - |
GRCh38 GRCh38 GRCh37 |
133 | 484 | |
ABCC6 | - | - |
GRCh38 GRCh38 GRCh37 |
1445 | 1804 | |
BMERB1 | - | - | - |
GRCh38 GRCh38 GRCh37 |
- | 348 |
CEP20 | - | - |
GRCh38 GRCh38 GRCh37 |
18 | 370 | |
MARF1 | - | - |
GRCh38 GRCh38 GRCh37 |
90 | 436 | |
MPV17L | - | - |
GRCh38 GRCh38 GRCh37 |
- | 332 | |
NDE1 | - | - |
GRCh38 GRCh38 GRCh37 |
178 | 1922 | |
NOMO3 | - | - |
GRCh38 GRCh38 GRCh37 |
31 | 301 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jan 10, 2023 | RCV003483279.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024