ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
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 | |
CASP10 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
511 | 545 | |
CRYGC | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
- | 116 | |
ABI2 | - | - |
GRCh38 GRCh37 |
13 | 43 | |
ADAM23 | - | - |
GRCh38 GRCh37 |
48 | 79 | |
ALS2 | - | - |
GRCh38 GRCh37 |
995 | 1039 | |
AOX1 | - | - |
GRCh38 GRCh37 |
56 | 92 | |
BZW1 | - | - |
GRCh38 GRCh37 |
18 | 51 | |
BZW1-AS1 | - | - | - | GRCh38 | - | 15 |
C2CD6 | - | - |
GRCh38 GRCh37 |
85 | 123 |
There are 290 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Apr 9, 2013 | RCV000143301.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024