ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17p13.2(chr17:4633847-4856516)x1
Germline
Classification
(1)
Uncertain significance
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 | |||
C17orf107 | - | - | - |
GRCh38 GRCh37 |
- | 773 |
CHRNE | - | - |
GRCh38 GRCh37 |
344 | 1327 | |
CXCL16 | - | - |
GRCh38 GRCh37 |
14 | 46 | |
ENO3 | - | - |
GRCh38 GRCh37 |
323 | 359 | |
GLTPD2 | - | - | - |
GRCh38 GRCh37 |
6 | 55 |
GP1BA | - | - |
GRCh38 GRCh37 |
164 | 219 | |
MED11 | - | - |
GRCh38 GRCh37 |
6 | 38 | |
MINK1 | - | - |
GRCh38 GRCh37 |
68 | 124 | |
PFN1 | - | - |
GRCh38 GRCh37 |
75 | 119 | |
PLD2 | - | - |
GRCh38 GRCh37 |
72 | 106 |
There are 6 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
May 16, 2014 | RCV000510443.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024