ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p34.3(chr1:35104233-37357913)x1
Germline
Classification
(1)
Pathogenic
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 | |||
ADPRS | - | - |
GRCh38 GRCh37 |
63 | 76 | |
AGO1 | - | - |
GRCh38 GRCh37 |
87 | 110 | |
AGO3 | - | - |
GRCh38 GRCh37 |
40 | 58 | |
AGO4 | - | - |
GRCh38 GRCh37 |
33 | 47 | |
C1orf216 | - | - | - |
GRCh38 GRCh37 |
2 | 16 |
CLSPN | - | - |
GRCh38 GRCh37 |
68 | 87 | |
COL8A2 | - | - |
GRCh38 GRCh37 |
104 | 127 | |
CSF3R | - | - |
GRCh38 GRCh37 |
608 | 619 | |
DLGAP3 | - | - |
GRCh38 GRCh37 |
12 | 25 | |
EVA1B | - | - | - |
GRCh38 GRCh37 |
- | 26 |
There are 24 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Jun 20, 2022 | RCV002474552.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022