ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)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 |
5155 | 5249 | |
ACTB | No evidence available | No evidence available |
GRCh38 GRCh37 |
536 | 585 | |
ADAP1 | - | - |
GRCh38 GRCh37 |
20 | 79 | |
AIMP2 | - | - |
GRCh38 GRCh37 |
71 | 203 | |
AMZ1 | - | - |
GRCh38 GRCh37 |
68 | 120 | |
ANKRD61 | - | - | - | GRCh38 | - | 18 |
AP5Z1 | - | - |
GRCh38 GRCh37 |
1023 | 1087 | |
BRAT1 | - | - |
GRCh38 GRCh37 |
1196 | 1253 | |
C7orf50 | - | - | - |
GRCh38 GRCh37 |
3 | 150 |
CARD11 | - | - |
GRCh38 GRCh37 |
928 | 1067 |
There are 373 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 | RCV000053527.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023