ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7p22.1(chr7:6007649-6753402)x3
Germline
Classification
(1)
Uncertain significance
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 |
5240 | 5342 | |
AIMP2 | - | - |
GRCh38 GRCh37 |
73 | 214 | |
CYTH3 | - | - |
GRCh38 GRCh37 |
13 | 69 | |
DAGLB | - | - |
GRCh38 GRCh37 |
82 | 135 | |
EIF2AK1 | - | - |
GRCh38 GRCh37 |
149 | 263 | |
FAM220A | - | - |
GRCh38 GRCh37 |
- | 63 | |
GRID2IP | - | - |
GRCh38 GRCh37 |
126 | 184 | |
INTS15 | - | - | - |
GRCh38 GRCh37 |
9 | 52 |
KDELR2 | - | - |
GRCh38 GRCh37 |
25 | 77 | |
RAC1 | - | - |
GRCh38 GRCh37 |
62 | 124 |
There are 6 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) |
|
- | RCV003986687.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024