ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7p22.1(chr7:4655928-5990874)x1
Germline
Classification
(1)
Pathogenic
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 | |||
ACTB | No evidence available | No evidence available |
GRCh38 GRCh37 |
536 | 585 | |
AP5Z1 | - | - |
GRCh38 GRCh37 |
1023 | 1087 | |
CCZ1 | - | - | - |
GRCh38 GRCh37 |
34 | 101 |
FBXL18 | - | - |
GRCh38 GRCh37 |
41 | 92 | |
FOXK1 | - | - |
GRCh38 GRCh37 |
39 | 90 | |
FSCN1 | - | - |
GRCh38 GRCh37 |
20 | 71 | |
MMD2 | - | - |
GRCh38 GRCh37 |
22 | 68 | |
OCM | - | - |
GRCh38 GRCh37 |
11 | 77 | |
PAPOLB | - | - |
GRCh38 GRCh37 |
- | 86 | |
RADIL | - | - |
GRCh38 GRCh37 |
103 | 192 |
There are 7 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Nov 15, 2021 | RCV002475747.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022