ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)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 |
5086 | 5180 | |
TWIST1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
149 | 241 | |
ACTB | No evidence available | No evidence available |
GRCh38 GRCh37 |
536 | 585 | |
ABCB5 | - | - |
GRCh38 GRCh37 |
61 | 98 | |
ADAP1 | - | - |
GRCh38 GRCh37 |
15 | 74 | |
AGMO | - | - |
GRCh38 GRCh37 |
84 | 133 | |
AGR2 | - | - |
GRCh38 GRCh37 |
15 | 62 | |
AGR3 | - | - |
GRCh38 GRCh37 |
8 | 60 | |
AHR | - | - |
GRCh38 GRCh37 |
433 | 496 | |
AIMP2 | - | - |
GRCh38 GRCh37 |
70 | 199 |
There are 815 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Oct 7, 2011 | RCV000137824.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023