ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3
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 | |||
PMS2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
5181 | 5281 | |
TWIST1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
153 | 247 | |
TBX20 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
550 | - | |
ACTB | No evidence available | No evidence available |
GRCh38 GRCh37 |
538 | 588 | |
ABCB5 | - | - |
GRCh38 GRCh37 |
81 | 118 | |
ADAP1 | - | - |
GRCh38 GRCh37 |
20 | 79 | |
ADCYAP1R1 | - | - |
GRCh38 GRCh37 |
22 | 53 | |
AGMO | - | - |
GRCh38 GRCh37 |
101 | 150 | |
AGR2 | - | - |
GRCh38 GRCh37 |
17 | 64 | |
AGR3 | - | - |
GRCh38 GRCh37 |
10 | 62 |
There are 1140 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) |
|
Aug 12, 2011 | RCV000053530.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024