ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783)
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 |
57 | 79 | |
NOTCH2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1540 | 1564 | |
ADAM30 | - | - |
GRCh38 GRCh37 |
47 | 68 | |
ADORA3 | - | - |
GRCh38 GRCh37 |
- | 25 | |
AMPD1 | - | - |
GRCh38 GRCh37 |
502 | 517 | |
AP4B1 | - | - |
GRCh38 GRCh37 |
110 | 431 | |
ATP1A1 | - | - |
GRCh38 GRCh37 |
309 | 737 | |
ATP5PB | - | - |
GRCh38 GRCh37 |
14 | 29 | |
BCAS2 | - | - |
GRCh38 GRCh37 |
8 | 22 | |
BCL2L15 | - | - |
GRCh38 GRCh37 |
- | 22 |
There are 70 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) |
|
Mar 1, 2022 | RCV002053602.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 05, 2022