ClinVar Genomic variation as it relates to human health
NC_000002.11:g.(?_201943606)_(204824322_?)del
Germline
Classification
(3)
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 |
1087 | 1150 | |
CASP10 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
517 | 551 | |
ABI2 | - | - |
GRCh38 GRCh37 |
13 | 43 | |
ALS2 | - | - |
GRCh38 GRCh37 |
1006 | 1050 | |
C2CD6 | - | - |
GRCh38 GRCh37 |
102 | 140 | |
CARF | - | - |
GRCh38 GRCh37 |
47 | 79 | |
CASP8 | - | - |
GRCh38 GRCh37 |
320 | 362 | |
CD28 | - | - |
GRCh38 GRCh37 |
10 | 45 | |
CDK15 | - | - |
GRCh38 GRCh37 |
23 | 58 | |
CFLAR | - | - |
GRCh38 GRCh37 |
12 | 52 |
There are 17 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) |
|
Jun 20, 2022 | RCV001950955.4 | |
Pathogenic (1) |
|
Jun 20, 2022 | RCV001950956.6 | |
Pathogenic (1) |
|
Jun 20, 2022 | RCV003120780.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 17, 2024