ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17q25.1(chr17:73281839-73568196)x1
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 | |||
CASKIN2 | - | - |
GRCh38 GRCh37 |
130 | 151 | |
GRB2 | - | - |
GRCh38 GRCh37 |
2 | 25 | |
LLGL2 | - | - |
GRCh38 GRCh37 |
129 | 148 | |
SLC25A19 | - | - |
GRCh38 GRCh37 |
137 | 198 | |
TMEM94 | - | - |
GRCh38 GRCh37 |
166 | 187 | |
TSEN54 | - | - |
GRCh38 GRCh37 |
585 | 657 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
- | RCV003987262.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024