ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p13.1-12(chr1:116059621-120130051)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 | |||
NOTCH2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1473 | 1498 | |
ADAM30 | - | - |
GRCh38 GRCh37 |
31 | 52 | |
ATP1A1 | - | - |
GRCh38 GRCh37 |
292 | 709 | |
ATP1A1-AS1 | - | - | GRCh38 | - | 400 | |
CD101 | - | - |
GRCh38 GRCh37 |
30 | 69 | |
CD101-AS1 | - | - | - | GRCh38 | - | 20 |
CD2 | - | - |
GRCh38 GRCh37 |
20 | 33 | |
CD2-LCR | - | - | - | GRCh38 | - | 5 |
CD58 | - | - |
GRCh38 GRCh37 |
9 | 19 | |
GDAP2 | - | - |
GRCh38 GRCh37 |
33 | 46 |
There are 132 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 | RCV000051831.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023