ClinVar Genomic variation as it relates to human health
GRCh38/hg38 17q12(chr17:35129859-35767049)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 | |||
AP2B1 | - | - |
GRCh38 GRCh37 |
21 | 33 | |
C17orf50 | - | - | - |
GRCh38 GRCh37 |
- | 14 |
FNDC8 | - | - | - |
GRCh38 GRCh37 |
20 | 44 |
GAS2L2 | - | - |
GRCh38 GRCh37 |
138 | 154 | |
LOC105371933 | - | - | - | GRCh38 | - | 5 |
LOC107985033 | - | - | - | GRCh38 | - | 26 |
LOC121852929 | - | - | - | GRCh38 | - | 1 |
LOC125177460 | - | - | - | GRCh38 | - | 1 |
LOC125177461 | - | - | - | GRCh38 | - | 1 |
LOC126862539 | - | - | - | GRCh38 | - | 1 |
There are 38 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
|
Uncertain significance (1) |
|
Jan 30, 2010 | RCV000136983.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024