ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1q22(chr1:155182457-155787428)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 | |||
ASH1L | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
522 | 549 | |
ASH1L-AS1 | - | - | - | GRCh38 | - | 3 |
CLK2 | - | - |
GRCh38 GRCh38 GRCh37 |
36 | 53 | |
DAP3 | - | - |
GRCh38 GRCh37 |
25 | 81 | |
ENTREP3 | - | - |
GRCh38 GRCh38 GRCh37 |
40 | 57 | |
FDPS | - | - |
GRCh38 GRCh37 |
10 | 44 | |
GBA1 | - | - |
GRCh38 GRCh38 GRCh37 |
29 | 383 | |
GON4L | - | - |
GRCh38 GRCh37 |
26 | 51 | |
HCN3 | - | - |
GRCh38 GRCh38 GRCh37 |
42 | 69 | |
LOC106627981 | - | - | - |
GRCh38 GRCh38 |
- | 341 |
There are 37 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 12, 2011 | RCV000051164.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024