ClinVar Genomic variation as it relates to human health
GRCh38/hg38 17p13.2(chr17:4092608-5354473)x3
Germline
Classification
(1)
Likely benign
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 | |||
ALOX15 | - | - |
GRCh38 GRCh37 |
45 | 87 | |
ANKFY1 | - | - |
GRCh38 GRCh37 |
130 | 188 | |
ARRB2 | - | - |
GRCh38 GRCh37 |
19 | 55 | |
C17orf107 | - | - | - |
GRCh38 GRCh37 |
- | 778 |
C17orf114 | - | - | - | GRCh38 | - | 14 |
CAMTA2 | - | - |
GRCh38 GRCh37 |
83 | 127 | |
CAMTA2-AS1 | - | - | - | GRCh38 | - | 28 |
CHRNE | - | - |
GRCh38 GRCh37 |
345 | 1333 | |
CXCL16 | - | - |
GRCh38 GRCh37 |
15 | 47 | |
CYB5D2 | - | - | - |
GRCh38 GRCh37 |
27 | 72 |
There are 133 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Likely benign (1) |
|
Oct 24, 2012 | RCV000139650.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024