ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p31.3(chr1:61922650-66445757)x3
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 | |||
AK4 | - | - |
GRCh38 GRCh37 |
12 | 37 | |
ALG6 | - | - |
GRCh38 GRCh37 |
762 | 795 | |
ANGPTL3 | - | - |
GRCh38 GRCh37 |
- | 116 | |
ATG4C | - | - |
GRCh38 GRCh37 |
24 | 50 | |
CACHD1 | - | - |
GRCh38 GRCh37 |
76 | 101 | |
DLEU2L | - | - | - | GRCh38 | - | 11 |
DNAJC6 | - | - |
GRCh38 GRCh37 |
306 | 335 | |
DOCK7 | - | - |
GRCh38 GRCh37 |
1564 | 1704 | |
DOCK7-DT | - | - | - | GRCh38 | - | 13 |
EFCAB7 | - | - |
GRCh38 GRCh37 |
21 | 51 |
There are 121 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000051824.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023