ClinVar Genomic variation as it relates to human health
GRCh37/hg19 10q23.1-23.32(chr10:82595472-93542416)x1
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 | |
ACTA2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
334 | 627 | |
FAS | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
405 | 456 | |
SLC16A12 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
66 | 100 | |
GRID1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
87 | 138 | |
NRG3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
77 | 120 | |
ADIRF | - | - | - |
GRCh38 GRCh37 |
- | 54 |
ADIRF-AS1 | - | - | - |
GRCh38 GRCh37 |
- | 54 |
AGAP11 | - | - | - |
GRCh38 GRCh37 |
2 | 51 |
There are 48 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) |
|
Dec 15, 2021 | RCV002472429.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023