ClinVar Genomic variation as it relates to human health
NC_000010.10:g.(?_88428449)_(89725229_?)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 |
2441 | 2537 | |
PTEN | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
3106 | 3616 | |
ADIRF | - | - | - |
GRCh38 GRCh37 |
- | 54 |
ADIRF-AS1 | - | - | - |
GRCh38 GRCh37 |
- | 54 |
AGAP11 | - | - | - |
GRCh38 GRCh37 |
2 | 51 |
ATAD1 | - | - |
GRCh38 GRCh38 GRCh37 |
183 | 213 | |
FAM25A | - | - | - |
GRCh38 GRCh37 |
8 | 55 |
GLUD1 | - | - |
GRCh38 GRCh37 |
181 | 288 | |
KLLN | - | - |
GRCh38 GRCh38 GRCh37 |
21 | 365 | |
LDB3 | - | - |
GRCh38 GRCh37 |
1207 | 1387 |
There are 6 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jul 4, 2022 | RCV003110999.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024