ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p36.12-36.11(chr1:23814543-24163928)
Germline
Classification
(1)
Pathogenic
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 | |||
E2F2 | - | - |
GRCh38 GRCh38 GRCh37 |
20 | 40 | |
ELOA | - | - |
GRCh38 GRCh37 |
39 | 50 | |
GALE | - | - |
GRCh38 GRCh37 |
361 | 382 | |
HMGCL | - | - |
GRCh38 GRCh37 |
509 | 527 | |
ID3 | - | - |
GRCh38 GRCh38 GRCh37 |
8 | 18 | |
LYPLA2 | - | - |
GRCh38 GRCh37 |
12 | 24 | |
MDS2 | - | - |
GRCh38 GRCh37 |
- | 10 | |
PITHD1 | - | - |
GRCh38 GRCh37 |
6 | 21 | |
RPL11 | - | - |
GRCh38 GRCh37 |
156 | 190 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
- | RCV002280623.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023