ClinVar Genomic variation as it relates to human health
GRCh38/hg38 10q23.1-23.31(chr10:84434981-89150802)x3
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 |
2280 | 2374 | |
PTEN | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
3035 | 3528 | |
ACTA2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
330 | 618 | |
FAS | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
398 | 448 | |
GRID1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
83 | 133 | |
ACTA2-AS1 | - | - | - | GRCh38 | - | 238 |
ADIRF | - | - | - |
GRCh38 GRCh37 |
- | 51 |
ADIRF-AS1 | - | - | - |
GRCh38 GRCh37 |
- | 51 |
AGAP11 | - | - | - |
GRCh38 GRCh37 |
2 | 50 |
ANKRD22 | - | - | - |
GRCh38 GRCh37 |
11 | 36 |
There are 143 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000053559.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023