ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17q25.1(chr17:73870412-74160099)x3
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
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 | |||
ACOX1 | - | - |
GRCh38 GRCh37 |
820 | 847 | |
CDK3 | - | - |
GRCh38 GRCh37 |
- | 30 | |
EVPL | - | - |
GRCh38 GRCh37 |
198 | 215 | |
EXOC7 | - | - |
GRCh38 GRCh37 |
73 | 101 | |
FBF1 | - | - |
GRCh38 GRCh37 |
18 | 43 | |
FOXJ1 | - | - |
GRCh38 GRCh37 |
46 | 72 | |
GALR2 | - | - |
GRCh38 GRCh37 |
35 | 59 | |
MRPL38 | - | - |
GRCh38 GRCh37 |
27 | 52 | |
RNF157 | - | - | - |
GRCh38 GRCh37 |
22 | 50 |
SRP68 | - | - |
GRCh38 GRCh37 |
18 | 44 |
There are 4 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) |
|
Jan 20, 2016 | RCV000240272.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022