ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p22.3-22.2(chr1:87511398-90730302)x1
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 | |||
GBP1 | - | - |
GRCh38 GRCh37 |
30 | 49 | |
GBP2 | - | - |
GRCh38 GRCh37 |
25 | 41 | |
GBP3 | - | - |
GRCh38 GRCh37 |
29 | 41 | |
GBP4 | - | - |
GRCh38 GRCh37 |
31 | 44 | |
GBP5 | - | - |
GRCh38 GRCh37 |
32 | 43 | |
GBP6 | - | - |
GRCh38 GRCh37 |
41 | 51 | |
GBP7 | - | - |
GRCh38 GRCh37 |
31 | 47 | |
GTF2B | - | - |
GRCh38 GRCh37 |
4 | 16 | |
HS2ST1 | - | - |
GRCh38 GRCh37 |
32 | 44 | |
KYAT3 | - | - |
GRCh38 GRCh37 |
3 | 45 |
There are 7 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 26, 2023 | RCV003483216.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024