ClinVar Genomic variation as it relates to human health
GRCh37/hg19 10q22.3-23.2(chr10:81611360-89264122)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 |
2323 | 2419 | |
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 |
ANXA11 | - | - |
GRCh38 GRCh37 |
279 | 366 | |
CCSER2 | - | - |
GRCh38 GRCh37 |
57 | 101 | |
CDHR1 | - | - |
GRCh38 GRCh37 |
900 | 951 | |
DYDC1 | - | - |
GRCh38 GRCh37 |
4 | 47 |
There are 25 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Jul 4, 2022 | RCV003329515.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2023