ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p22.2-22.1(chr1:91668330-93539185)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 | |||
GLMN | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
114 | 154 | |
BRDT | - | - |
GRCh38 GRCh37 |
51 | 64 | |
BTBD8 | - | - |
GRCh38 GRCh37 |
18 | 30 | |
BTBD8 | - | - |
GRCh38 GRCh37 |
18 | 30 | |
C1orf146 | - | - |
GRCh38 GRCh37 |
1 | 13 | |
CDC7 | - | - |
GRCh38 GRCh37 |
35 | 44 | |
DIPK1A | - | - |
GRCh38 GRCh37 |
19 | 295 | |
EPHX4 | - | - |
GRCh38 GRCh37 |
14 | 27 | |
EVI5 | - | - |
GRCh38 GRCh37 |
56 | 65 | |
GFI1 | - | - |
GRCh38 GRCh37 |
280 | 309 |
There are 5 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) |
|
Oct 13, 2017 | RCV000684599.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022