ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7p14.3(chr7:30567050-31415774)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 | |||
ADCYAP1R1 | - | - |
GRCh38 GRCh37 |
22 | 53 | |
AQP1 | - | - |
GRCh38 GRCh37 |
46 | 76 | |
CRHR2 | - | - |
GRCh38 GRCh37 |
25 | 62 | |
GARS1 | - | - |
GRCh38 GRCh37 |
767 | 802 | |
GHRHR | - | - |
GRCh38 GRCh37 |
253 | 285 | |
INMT | - | - |
GRCh38 GRCh37 |
- | 64 | |
MINDY4 | - | - | - |
GRCh38 GRCh37 |
- | 93 |
NEUROD6 | - | - |
GRCh38 GRCh37 |
12 | 39 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 6, 2021 | RCV002474912.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022