ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p32.3-31.3(chr1:53627272-64248854)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 | |
PCSK9 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
1091 | 1104 | |
ACOT11 | - | - |
GRCh38 GRCh37 |
31 | 96 | |
ALG6 | - | - |
GRCh38 GRCh37 |
762 | 795 | |
ANGPTL3 | - | - |
GRCh38 GRCh37 |
- | 111 | |
ATG4C | - | - |
GRCh38 GRCh37 |
16 | 42 | |
BSND | - | - |
GRCh38 GRCh37 |
340 | 355 | |
C1orf87 | - | - |
GRCh38 GRCh37 |
3 | 23 | |
C8A | - | - |
GRCh38 GRCh37 |
343 | 357 | |
C8B | - | - |
GRCh38 GRCh37 |
345 | 358 |
There are 272 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) |
|
Jul 5, 2011 | RCV000139470.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023