ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)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 |
1091 | 1154 | |
SATB2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
638 | 816 | |
CASP10 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
520 | 554 | |
CRYGC | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
- | 122 | |
ABI2 | - | - |
GRCh38 GRCh37 |
13 | 43 | |
ACADL | - | - |
GRCh38 GRCh37 |
54 | 82 | |
ADAM23 | - | - |
GRCh38 GRCh37 |
52 | 83 | |
ALS2 | - | - |
GRCh38 GRCh37 |
1009 | 1053 | |
ANKRD44 | - | - | - |
GRCh38 GRCh37 |
56 | 95 |
AOX1 | - | - |
GRCh38 GRCh37 |
63 | 99 |
There are 87 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) |
|
- | RCV003986323.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024