ClinVar Genomic variation as it relates to human health
GRCh37/hg19 14q22.1(chr14:50977957-51680043)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
ABHD12B | - | - | - |
GRCh38 GRCh37 |
32 | 47 |
ATL1 | - | - |
GRCh38 GRCh37 |
556 | 592 | |
MAP4K5 | - | - |
GRCh38 GRCh37 |
37 | 69 | |
NIN | - | - |
GRCh38 GRCh37 |
676 | 745 | |
PYGL | - | - |
GRCh38 GRCh37 |
345 | 364 | |
SAV1 | - | - |
GRCh38 GRCh37 |
- | - | |
TRIM9 | - | - |
GRCh38 GRCh37 |
29 | - |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 13, 2018 | RCV000683616.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022