ClinVar Genomic variation as it relates to human health
GRCh37/hg19 10q23.2-23.32(chr10:88121043-93641582)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 |
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 | |
SLC16A12 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
61 | 93 | |
GRID1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
83 | 133 | |
ADIRF | - | - | - |
GRCh38 GRCh37 |
- | 51 |
ADIRF-AS1 | - | - | - |
GRCh38 GRCh37 |
- | 51 |
AGAP11 | - | - | - |
GRCh38 GRCh37 |
2 | 50 |
ANKRD1 | - | - |
GRCh38 GRCh37 |
484 | 502 |
There are 38 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) |
|
- | RCV003986869.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024