ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1q23.3-24.2(chr1:162040050-167480663)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 | |||
PBX1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
108 | 128 | |
ALDH9A1 | - | - |
GRCh38 GRCh37 |
22 | 42 | |
C1orf226 | - | - | - |
GRCh38 GRCh37 |
3 | 22 |
CCDC190 | - | - | - |
GRCh38 GRCh37 |
15 | 32 |
CD247 | - | - |
GRCh38 GRCh37 |
172 | 195 | |
DDR2 | - | - |
GRCh38 GRCh37 |
348 | 366 | |
FAM78B | - | - | - |
GRCh38 GRCh37 |
2 | 27 |
FAM78B-AS1 | - | - | - | GRCh38 | - | 13 |
GPA33 | - | - |
GRCh38 GRCh37 |
17 | 35 | |
HSD17B7 | - | - |
GRCh38 GRCh37 |
21 | 38 |
There are 143 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000053915.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023