ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1
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 | |||
NFIA | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
293 | 330 | |
DIRAS3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | 35 | |
ACADM | - | - |
GRCh38 GRCh37 |
859 | 891 | |
ADGRL2 | - | - |
GRCh38 GRCh37 |
77 | 93 | |
ADGRL4 | - | - |
GRCh38 GRCh37 |
30 | 49 | |
AK4 | - | - |
GRCh38 GRCh37 |
9 | 34 | |
AK5 | - | - |
GRCh38 GRCh37 |
30 | 51 | |
ALG6 | - | - |
GRCh38 GRCh37 |
762 | 795 | |
ANGPTL3 | - | - |
GRCh38 GRCh37 |
- | 111 | |
ANKRD13C | - | - |
GRCh38 GRCh37 |
3 | 36 |
There are 550 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 22, 2010 | RCV000136913.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023