ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3
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 | |||
MOV10 | No evidence available | No evidence available |
GRCh38 GRCh37 |
39 | 61 | |
ADORA3 | - | - |
GRCh38 GRCh37 |
- | 25 | |
AHCYL1 | - | - |
GRCh38 GRCh37 |
5 | 26 | |
ALX3 | - | - |
GRCh38 GRCh37 |
56 | 75 | |
AMPD1 | - | - |
GRCh38 GRCh37 |
492 | 505 | |
AP4B1 | - | - |
GRCh38 GRCh37 |
107 | 417 | |
AP4B1-AS1 | - | - | - | GRCh38 | - | 323 |
ATP1A1 | - | - |
GRCh38 GRCh37 |
292 | 708 | |
ATP1A1-AS1 | - | - | GRCh38 | - | 401 | |
ATP5PB | - | - |
GRCh38 GRCh37 |
2 | 17 |
There are 383 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 | RCV000051827.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023