ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1q21.3-22(chr1:154575689-155292901)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 | |||
ADAM15 | - | - |
GRCh38 GRCh37 |
- | 97 | |
ADAM15-EFNA4 | - | - | - | GRCh38 | - | 116 |
ADAR | - | - |
GRCh38 GRCh37 |
1242 | 1389 | |
CHRNB2 | - | - |
GRCh38 GRCh37 |
555 | 603 | |
CKS1B | - | - |
GRCh38 GRCh37 |
2 | 20 | |
CLK2 | - | - |
GRCh38 GRCh38 GRCh37 |
40 | 57 | |
DCST1 | - | - |
GRCh38 GRCh37 |
36 | 76 | |
DCST1-AS1 | - | - | - | GRCh38 | - | 112 |
DCST2 | - | - |
GRCh38 GRCh37 |
81 | 98 | |
DPM3 | - | - |
GRCh38 GRCh37 |
64 | 85 |
There are 83 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000053912.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023