ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p31.3(chr1:62830524-65396403)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 | |||
ALG6 | - | - |
GRCh38 GRCh37 |
770 | 804 | |
ANGPTL3 | - | - |
GRCh38 GRCh37 |
- | 122 | |
ATG4C | - | - |
GRCh38 GRCh37 |
27 | 54 | |
CACHD1 | - | - | - |
GRCh38 GRCh37 |
85 | 111 |
DOCK7 | - | - |
GRCh38 GRCh37 |
1576 | 1722 | |
EFCAB7 | - | - |
GRCh38 GRCh37 |
23 | 54 | |
FOXD3 | - | - |
GRCh38 GRCh37 |
1 | 76 | |
ITGB3BP | - | - |
GRCh38 GRCh37 |
7 | 37 | |
JAK1 | - | - |
GRCh38 GRCh37 |
528 | 621 | |
PGM1 | - | - |
GRCh38 GRCh37 |
370 | 469 |
There are 4 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 19, 2017 | RCV000684579.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022