ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)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 | |||
BMPR2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1082 | 1145 | |
SATB2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
624 | 802 | |
CASP10 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
514 | 548 | |
CRYGC | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
- | 117 | |
STAT1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
619 | 662 | |
ABI2 | - | - |
GRCh38 GRCh37 |
13 | 43 | |
ADAM23 | - | - |
GRCh38 GRCh37 |
48 | 79 | |
ALS2 | - | - |
GRCh38 GRCh37 |
1000 | 1044 | |
ANKAR | - | - |
GRCh38 GRCh37 |
82 | 132 | |
ANKRD44 | - | - | - |
GRCh38 GRCh37 |
51 | 90 |
There are 99 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) |
|
Jan 13, 2022 | RCV002473800.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023