ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7p13(chr7:44688036-45364793)x3
Germline
Classification
(1)
Likely benign
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 | |||
CCM2 | - | - |
GRCh38 GRCh37 |
300 | 351 | |
H2AZ2 | - | - |
GRCh38 GRCh37 |
- | 27 | |
MYO1G | - | - |
GRCh38 GRCh37 |
60 | 87 | |
NACAD | - | - |
GRCh38 GRCh37 |
131 | 161 | |
OGDH | - | - |
GRCh38 GRCh37 |
173 | 201 | |
PPIA | - | - |
GRCh38 GRCh37 |
1 | 28 | |
PURB | - | - |
GRCh38 GRCh37 |
13 | 40 | |
RAMP3 | - | - |
GRCh38 GRCh37 |
9 | 37 | |
SNHG15 | - | - | - |
GRCh38 GRCh37 |
- | 27 |
SNORA5C | - | - |
GRCh38 GRCh37 |
- | 28 |
There are 2 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 |
---|---|---|---|---|
See cases
|
Likely benign (1) |
|
Dec 16, 2014 | RCV000511814.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024