ClinVar Genomic variation as it relates to human health
GRCh37/hg19 6q23.3-24.1(chr6:135936688-140660269)x1
Germline
Classification
(1)
not provided
no classification 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 | |||
BCLAF1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
56 | 75 | |
ABRACL | - | - | - |
GRCh38 GRCh37 |
4 | 20 |
ARFGEF3 | - | - |
GRCh38 GRCh37 |
133 | 157 | |
CCDC28A | - | - |
GRCh38 GRCh37 |
8 | 25 | |
CITED2 | - | - |
GRCh38 GRCh37 |
36 | 70 | |
ECT2L | - | - | - |
GRCh38 GRCh37 |
71 | 91 |
HEBP2 | - | - |
GRCh38 GRCh37 |
13 | 30 | |
HECA | - | - |
GRCh38 GRCh37 |
2 | 33 | |
IFNGR1 | - | - |
GRCh38 GRCh37 |
353 | 372 | |
IL20RA | - | - |
GRCh38 GRCh37 |
18 | 42 |
There are 15 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 |
---|---|---|---|---|
not provided (1) |
|
- | RCV001249247.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022