ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3
Germline
Classification
(1)
Likely 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 |
297 | 334 | |
PCSK9 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
1264 | 1277 | |
ACOT11 | - | - |
GRCh38 GRCh37 |
48 | 126 | |
AK4 | - | - |
GRCh38 GRCh37 |
12 | 37 | |
ALG6 | - | - |
GRCh38 GRCh37 |
762 | 795 | |
ANGPTL3 | - | - |
GRCh38 GRCh37 |
- | 116 | |
ATG4C | - | - |
GRCh38 GRCh37 |
24 | 50 | |
BSND | - | - |
GRCh38 GRCh37 |
343 | 358 | |
C1orf141 | - | - | - |
GRCh38 GRCh37 |
1 | 27 |
C1orf87 | - | - |
GRCh38 GRCh37 |
3 | 23 |
There are 413 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
May 7, 2013 | RCV000141758.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024