ClinVar Genomic variation as it relates to human health
NC_000010.11:g.(?_86838866)_(87965482_?)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 | |||
BMPR1A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2323 | 2419 | |
PTEN | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
3084 | 3584 | |
ADIRF | - | - | - |
GRCh38 GRCh37 |
- | 54 |
ADIRF-AS1 | - | - | - |
GRCh38 GRCh37 |
- | 54 |
AGAP11 | - | - | - |
GRCh38 GRCh37 |
2 | 51 |
ATAD1 | - | - |
GRCh38 GRCh38 GRCh37 |
181 | 211 | |
FAM245A | - | - | - | GRCh38 | - | 4 |
FAM25A | - | - | - |
GRCh38 GRCh37 |
8 | 55 |
GLUD1 | - | - |
GRCh38 GRCh37 |
179 | 284 | |
KLLN | - | - |
GRCh38 GRCh38 GRCh37 |
21 | 360 |
There are 52 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Nov 1, 2018 | RCV000801362.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023