ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16q22.1(chr16:69385913-70336760)x1
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 | |||
AARS1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1407 | 1453 | |
CLEC18A | - | - |
GRCh38 GRCh37 |
34 | 72 | |
CLEC18C | - | - |
GRCh38 GRCh37 |
20 | 59 | |
CYB5B | - | - |
GRCh38 GRCh37 |
11 | 44 | |
DDX19B | - | - |
GRCh38 GRCh37 |
2 | 65 | |
EXOSC6 | - | - |
GRCh38 GRCh37 |
21 | 76 | |
LOC400541 | - | - | - |
GRCh38 GRCh37 |
- | 52 |
MIR140 | - | - |
GRCh38 GRCh37 |
- | 40 | |
NFAT5 | - | - |
GRCh38 GRCh37 |
668 | 706 | |
NOB1 | - | - |
GRCh38 GRCh37 |
31 | 76 |
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 |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Oct 22, 2014 | RCV000510349.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024