ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p12(chr1:118933857-119977655)x1
Germline
Classification
(1)
Uncertain significance
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 | |||
NOTCH2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1473 | 1498 | |
ADAM30 | - | - |
GRCh38 GRCh37 |
31 | 52 | |
HAO2 | - | - |
GRCh38 GRCh37 |
19 | 40 | |
HAO2-IT1 | - | - | - | GRCh38 | - | 5 |
HMGCS2 | - | - |
GRCh38 GRCh37 |
268 | 300 | |
HSD3B1 | - | - |
GRCh38 GRCh37 |
29 | 49 | |
HSD3B2 | - | - |
GRCh38 GRCh37 |
303 | 366 | |
LINC00622 | - | - | - | GRCh38 | - | 4 |
LINC01780 | - | - | - | GRCh38 | - | 5 |
LOC105378933 | - | - | - | GRCh38 | - | 5 |
There are 30 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 28, 2013 | RCV000143206.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023