ClinVar Genomic variation as it relates to human health
NC_000002.11:g.(?_203420070)_(211811277_?)del
Germline
Classification
(1)
Uncertain significance
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 |
1074 | 1137 | |
CRYGC | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
- | 116 | |
ABI2 | - | - |
GRCh38 GRCh37 |
13 | 43 | |
ACADL | - | - |
GRCh38 GRCh37 |
49 | 76 | |
ADAM23 | - | - |
GRCh38 GRCh37 |
48 | 79 | |
C2orf80 | - | - |
GRCh38 GRCh37 |
5 | 39 | |
CARF | - | - |
GRCh38 GRCh37 |
43 | 75 | |
CCNYL1 | - | - |
GRCh38 GRCh37 |
13 | 40 | |
CD28 | - | - |
GRCh38 GRCh37 |
9 | 44 | |
CMKLR2 | - | - |
GRCh38 GRCh38 GRCh37 |
20 | 48 |
There are 36 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Dec 17, 2020 | RCV002016799.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023