ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p31.3-31.2(chr1:65125111-69186543)
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 | |||
DIRAS3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | 42 | |
AK4 | - | - |
GRCh38 GRCh37 |
15 | 41 | |
C1orf141 | - | - | - |
GRCh38 GRCh37 |
1 | 27 |
CACHD1 | - | - | - |
GRCh38 GRCh37 |
85 | 111 |
DEPDC1 | - | - |
GRCh38 GRCh37 |
48 | 73 | |
DNAI4 | - | - |
GRCh38 GRCh37 |
59 | 89 | |
DNAJC6 | - | - |
GRCh38 GRCh37 |
311 | 341 | |
DYNLT5 | - | - |
GRCh38 GRCh37 |
12 | 38 | |
GADD45A | - | - |
GRCh38 GRCh37 |
2 | 27 | |
GNG12 | - | - |
GRCh38 GRCh37 |
1 | 25 |
There are 15 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) |
|
Mar 1, 2022 | RCV002053380.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 05, 2022