ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p31.3(chr1:63885043-65190254)x1
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 | |||
ALG6 | - | - |
GRCh38 GRCh37 |
771 | 805 | |
CACHD1 | - | - |
GRCh38 GRCh37 |
85 | 111 | |
EFCAB7 | - | - |
GRCh38 GRCh37 |
23 | 54 | |
ITGB3BP | - | - |
GRCh38 GRCh37 |
7 | 37 | |
PGM1 | - | - |
GRCh38 GRCh37 |
372 | 472 | |
ROR1 | - | - |
GRCh38 GRCh37 |
172 | 201 | |
UBE2U | - | - | - |
GRCh38 GRCh37 |
11 | 38 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
- | RCV003986739.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024