ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17q25.1(chr17:72875847-73484159)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 | |||
ARMC7 | - | - | - |
GRCh38 GRCh37 |
11 | 30 |
ATP5PD | - | - |
GRCh38 GRCh37 |
- | 23 | |
CDR2L | - | - | - |
GRCh38 GRCh37 |
23 | 40 |
FADS6 | - | - |
GRCh38 GRCh37 |
28 | 42 | |
GGA3 | - | - |
GRCh38 GRCh37 |
50 | 102 | |
GRB2 | - | - |
GRCh38 GRCh37 |
2 | 25 | |
HID1 | - | - |
GRCh38 GRCh37 |
65 | 82 | |
JPT1 | - | - |
GRCh38 GRCh37 |
5 | 31 | |
KCTD2 | - | - |
GRCh38 GRCh37 |
5 | 37 | |
MIF4GD | - | - |
GRCh38 GRCh37 |
13 | 36 |
There are 11 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) |
|
- | RCV003987236.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024