ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7p13(chr7:44765589-45364793)
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 | |||
CCM2 | - | - |
GRCh38 GRCh37 |
300 | 351 | |
H2AZ2 | - | - | - |
GRCh38 GRCh37 |
- | 27 |
MYO1G | - | - |
GRCh38 GRCh37 |
60 | 87 | |
NACAD | - | - |
GRCh38 GRCh37 |
131 | 161 | |
PPIA | - | - |
GRCh38 GRCh37 |
1 | 28 | |
PURB | - | - |
GRCh38 GRCh37 |
13 | 40 | |
RAMP3 | - | - |
GRCh38 GRCh37 |
9 | 37 | |
SNHG15 | - | - | - |
GRCh38 GRCh37 |
- | 27 |
SNORA5C | - | - |
GRCh38 GRCh37 |
- | 28 | |
TBRG4 | - | - |
GRCh38 GRCh37 |
34 | 62 |
There is 1 more gene 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) |
|
Mar 1, 2022 | RCV002053690.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022