ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16q22.1(chr16:70305107-70594202)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
AARS1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1393 | 1435 | |
COG4 | - | - |
GRCh38 GRCh37 |
324 | 373 | |
DDX19A | - | - | - |
GRCh38 GRCh37 |
17 | 58 |
DDX19B | - | - |
GRCh38 GRCh37 |
2 | 58 | |
FCSK | - | - |
GRCh38 GRCh37 |
469 | 515 | |
SF3B3 | - | - |
GRCh38 GRCh37 |
26 | 71 | |
ST3GAL2 | - | - |
GRCh38 GRCh37 |
15 | 58 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Sep 30, 2022 | RCV003485120.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024