ClinVar Genomic variation as it relates to human health
NC_000001.10:g.(?_119618953)_(120311467_?)del
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 | |||
HAO2 | - | - |
GRCh38 GRCh37 |
27 | 47 | |
HMGCS2 | - | - |
GRCh38 GRCh37 |
271 | 302 | |
HSD3B1 | - | - |
GRCh38 GRCh37 |
37 | 56 | |
HSD3B2 | - | - |
GRCh38 GRCh37 |
308 | 372 | |
PHGDH | - | - |
GRCh38 GRCh37 |
819 | 841 | |
WARS2 | - | - |
GRCh38 GRCh37 |
124 | 163 | |
ZNF697 | - | - | - |
GRCh38 GRCh37 |
33 | 50 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Sep 17, 2021 | RCV001943105.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023