ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17p13.2(chr17:4036861-5174346)x3
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 | |||
ALOX15 | - | - |
GRCh38 GRCh37 |
42 | 83 | |
ANKFY1 | - | - |
GRCh38 GRCh37 |
124 | 180 | |
ARRB2 | - | - |
GRCh38 GRCh37 |
14 | 48 | |
C17orf107 | - | - | - |
GRCh38 GRCh37 |
- | 765 |
CAMTA2 | - | - |
GRCh38 GRCh37 |
72 | 114 | |
CHRNE | - | - |
GRCh38 GRCh37 |
340 | 1314 | |
CXCL16 | - | - |
GRCh38 GRCh37 |
14 | 45 | |
CYB5D2 | - | - | - |
GRCh38 GRCh37 |
22 | 66 |
ENO3 | - | - |
GRCh38 GRCh37 |
323 | 358 | |
GGT6 | - | - |
GRCh38 GRCh37 |
43 | 82 |
There are 28 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
May 29, 2018 | RCV000683881.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022