ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3
Germline
Classification
(1)
Pathogenic
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 |
5177 | 5277 | |
TWIST1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
151 | 244 | |
ACTB | No evidence available | No evidence available |
GRCh38 GRCh37 |
536 | 586 | |
ABCB5 | - | - |
GRCh38 GRCh37 |
81 | 118 | |
ADAP1 | - | - |
GRCh38 GRCh37 |
20 | 79 | |
AGMO | - | - |
GRCh38 GRCh37 |
100 | 149 | |
AGR2 | - | - |
GRCh38 GRCh37 |
17 | 64 | |
AGR3 | - | - |
GRCh38 GRCh37 |
10 | 62 | |
AHR | - | - |
GRCh38 GRCh37 |
435 | 499 | |
AIMP2 | - | - |
GRCh38 GRCh37 |
71 | 208 |
There are 896 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
|
Pathogenic (1) |
|
Sep 9, 2013 | RCV000143586.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024