ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)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 |
5057 | 5151 | |
TWIST1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
149 | 241 | |
CDK13 | Some evidence for dosage pathogenicity | Not yet evaluated |
GRCh38 GRCh37 |
662 | 782 | |
TBX20 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
533 | 554 | |
ACTB | No evidence available | No evidence available |
GRCh38 GRCh37 |
534 | 583 | |
ABCB5 | - | - |
GRCh38 GRCh37 |
61 | 98 | |
ADAP1 | - | - |
GRCh38 GRCh37 |
15 | 74 | |
ADCYAP1R1 | - | - |
GRCh38 GRCh37 |
13 | 44 | |
AGMO | - | - |
GRCh38 GRCh37 |
84 | 133 | |
AGR2 | - | - |
GRCh38 GRCh37 |
15 | 62 |
There are 1290 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) |
|
Aug 12, 2011 | RCV000051159.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023