ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7p22.1(chr7:5919587-6762394)x3
Germline
Classification
(1)
Uncertain significance
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 | |
AIMP2 | - | - |
GRCh38 GRCh37 |
71 | 208 | |
CCZ1 | - | - | - |
GRCh38 GRCh37 |
34 | 102 |
CYTH3 | - | - |
GRCh38 GRCh37 |
12 | 68 | |
DAGLB | - | - |
GRCh38 GRCh37 |
72 | 125 | |
EIF2AK1 | - | - |
GRCh38 GRCh37 |
141 | 254 | |
FAM220A | - | - |
GRCh38 GRCh37 |
- | 63 | |
GRID2IP | - | - |
GRCh38 GRCh37 |
113 | 169 | |
INTS15 | - | - | - |
GRCh38 GRCh37 |
9 | 52 |
KDELR2 | - | - |
GRCh38 GRCh37 |
23 | 75 |
There are 8 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Sep 4, 2019 | RCV001259436.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 05, 2022