ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1q23.3-24.2(chr1:163093021-168991239)x1
Germline
Classification
(1)
Pathogenic
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 | |||
PBX1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
106 | 129 | |
ADCY10 | - | - |
GRCh38 GRCh37 |
313 | 498 | |
ALDH9A1 | - | - |
GRCh38 GRCh37 |
23 | 46 | |
CD247 | - | - |
GRCh38 GRCh37 |
172 | 198 | |
CREG1 | - | - |
GRCh38 GRCh37 |
2 | 32 | |
DCAF6 | - | - |
GRCh38 GRCh37 |
30 | 217 | |
DPT | - | - |
GRCh38 GRCh37 |
19 | 50 | |
FAM78B | - | - | - |
GRCh38 GRCh37 |
2 | 30 |
GPA33 | - | - |
GRCh38 GRCh37 |
17 | 38 | |
GPR161 | - | - |
GRCh38 GRCh37 |
54 | 76 |
There are 22 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Apr 13, 2017 | RCV000849156.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022