ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p31.3(chr1:63047044-64769540)x1
Germline
Classification
(1)
Uncertain significance
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 |
762 | 795 | |
ANGPTL3 | - | - |
GRCh38 GRCh37 |
- | 116 | |
ATG4C | - | - |
GRCh38 GRCh37 |
24 | 50 | |
DOCK7 | - | - |
GRCh38 GRCh37 |
1564 | 1704 | |
EFCAB7 | - | - |
GRCh38 GRCh37 |
21 | 51 | |
FOXD3 | - | - |
GRCh38 GRCh37 |
1 | 71 | |
ITGB3BP | - | - |
GRCh38 GRCh37 |
7 | 36 | |
PGM1 | - | - |
GRCh38 GRCh37 |
366 | 462 | |
ROR1 | - | - |
GRCh38 GRCh37 |
166 | 194 | |
UBE2U | - | - | - |
GRCh38 GRCh37 |
7 | 33 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
- | RCV003986950.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024