ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17q25.1(chr17:72864876-73328878)x1
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 |
14 | 33 |
ATP5PD | - | - |
GRCh38 GRCh37 |
- | 24 | |
CDR2L | - | - | - |
GRCh38 GRCh37 |
27 | 44 |
FADS6 | - | - |
GRCh38 GRCh37 |
34 | 48 | |
FDXR | - | - |
GRCh38 GRCh37 |
135 | 155 | |
GGA3 | - | - |
GRCh38 GRCh37 |
56 | 107 | |
GRB2 | - | - |
GRCh38 GRCh37 |
2 | 25 | |
HID1 | - | - |
GRCh38 GRCh37 |
69 | 87 | |
JPT1 | - | - |
GRCh38 GRCh37 |
5 | 32 | |
KCTD2 | - | - |
GRCh38 GRCh37 |
7 | 42 |
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) |
|
Jan 1, 2023 | RCV003222940.12 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 08, 2024