ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)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 | |||
NFIA | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
297 | 334 | |
DIRAS3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | 35 | |
ACADM | - | - |
GRCh38 GRCh37 |
861 | 893 | |
AK4 | - | - |
GRCh38 GRCh37 |
9 | 37 | |
ALG6 | - | - |
GRCh38 GRCh37 |
762 | 795 | |
ANGPTL3 | - | - |
GRCh38 GRCh37 |
- | 116 | |
ANKRD13C | - | - |
GRCh38 GRCh37 |
8 | 42 | |
ANKRD13C-DT | - | - |
GRCh38 GRCh37 |
- | 14 | |
ASB17 | - | - |
GRCh38 GRCh37 |
12 | 37 | |
ATG4C | - | - |
GRCh38 GRCh37 |
16 | 42 |
There are 323 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) |
|
Aug 12, 2011 | RCV000053842.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023