ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7p14.3(chr7:30673441-31154672)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 | |||
ADCYAP1R1 | - | - |
GRCh38 GRCh37 |
23 | 54 | |
AQP1 | - | - |
GRCh38 GRCh37 |
50 | 81 | |
CRHR2 | - | - |
GRCh38 GRCh37 |
28 | 67 | |
GARS1 | - | - |
GRCh38 GRCh37 |
775 | 811 | |
GHRHR | - | - |
GRCh38 GRCh37 |
259 | 291 | |
INMT | - | - |
GRCh38 GRCh37 |
- | 67 | |
MINDY4 | - | - | - |
GRCh38 GRCh37 |
- | 102 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
- | RCV000447844.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024