ClinVar Genomic variation as it relates to human health
NC_000020.10:g.(?_43047045)_(43280248_?)del
Germline
Classification
(1)
Pathogenic
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 | |||
ADA | - | - |
GRCh38 GRCh37 |
521 | 673 | |
HNF4A | - | - |
GRCh38 GRCh37 |
562 | 574 | |
PKIG | - | - |
GRCh38 GRCh37 |
2 | 12 | |
SERINC3 | - | - |
GRCh38 GRCh37 |
27 | 36 | |
TTPAL | - | - | - |
GRCh38 GRCh37 |
15 | 24 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
May 20, 2022 | RCV003113873.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 10, 2024