ClinVar Genomic variation as it relates to human health
GRCh37/hg19 10q23.1-23.32(chr10:83379241-93219169)x1
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
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 |
3036 | 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 | |
NRG3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
71 | 114 | |
ADIRF | - | - | - |
GRCh38 GRCh37 |
- | 51 |
ADIRF-AS1 | - | - | - |
GRCh38 GRCh37 |
- | 51 |
AGAP11 | - | - | - |
GRCh38 GRCh37 |
2 | 50 |
There are 47 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) |
|
Mar 9, 2018 | RCV000683284.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023