ClinVar Genomic variation as it relates to human health
NC_000020.10:g.(?_49354394)_(49626875_?)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 | |||
ADNP | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
672 | 689 | |
BCAS4 | - | - |
GRCh38 GRCh37 |
14 | 39 | |
DPM1 | - | - |
GRCh38 GRCh37 |
69 | 276 | |
KCNG1 | - | - |
GRCh38 GRCh37 |
21 | 35 | |
MOCS3 | - | - |
GRCh38 GRCh37 |
243 | 259 | |
PARD6B | - | - |
GRCh38 GRCh37 |
25 | 39 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jan 11, 2021 | RCV001946891.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 17, 2024