ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7p22.1(chr7:5331115-6340621)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 | |||
PMS2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
5232 | 5334 | |
ACTB | No evidence available | No evidence available |
GRCh38 GRCh37 |
540 | 590 | |
AIMP2 | - | - |
GRCh38 GRCh37 |
72 | 213 | |
ANKRD61 | - | - | - | GRCh38 | - | 18 |
CCZ1 | - | - |
GRCh38 GRCh37 |
37 | 108 | |
CYTH3 | - | - |
GRCh38 GRCh37 |
13 | 69 | |
EIF2AK1 | - | - |
GRCh38 GRCh37 |
147 | 261 | |
FAM220A | - | - |
GRCh38 GRCh37 |
- | 63 | |
FBXL18 | - | - |
GRCh38 GRCh37 |
47 | 99 | |
FSCN1 | - | - |
GRCh38 GRCh37 |
24 | 76 |
There are 70 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Jul 5, 2011 | RCV000138729.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024