ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7p22.3-21.3(chr7:1648373-10627513)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 |
5178 | 5278 | |
ACTB | No evidence available | No evidence available |
GRCh38 GRCh37 |
536 | 586 | |
AIMP2 | - | - |
GRCh38 GRCh37 |
71 | 208 | |
AMZ1 | - | - |
GRCh38 GRCh37 |
68 | 121 | |
AP5Z1 | - | - |
GRCh38 GRCh37 |
1021 | 1088 | |
BRAT1 | - | - |
GRCh38 GRCh37 |
1202 | 1260 | |
C1GALT1 | - | - |
GRCh38 GRCh37 |
27 | 69 | |
CARD11 | - | - |
GRCh38 GRCh37 |
932 | 1072 | |
CCZ1 | - | - | - |
GRCh38 GRCh37 |
34 | 102 |
CCZ1B | - | - | - |
GRCh38 GRCh37 |
26 | 63 |
There are 46 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jul 17, 2018 | RCV001005891.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 05, 2022