ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7p22.3-21.2(chr7:43360-14664158)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 |
5230 | 5332 | |
ACTB | No evidence available | No evidence available |
GRCh38 GRCh37 |
538 | 588 | |
ADAP1 | - | - |
GRCh38 GRCh37 |
22 | 82 | |
AIMP2 | - | - |
GRCh38 GRCh37 |
72 | 213 | |
AMZ1 | - | - |
GRCh38 GRCh37 |
74 | 129 | |
AP5Z1 | - | - |
GRCh38 GRCh37 |
1023 | 1090 | |
ARL4A | - | - |
GRCh38 GRCh37 |
7 | 44 | |
BRAT1 | - | - |
GRCh38 GRCh37 |
1208 | 1266 | |
C1GALT1 | - | - |
GRCh38 GRCh37 |
28 | 70 | |
C7orf50 | - | - | - |
GRCh38 GRCh37 |
3 | 156 |
There are 74 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
May 16, 2014 | RCV000511772.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024