ClinVar Genomic variation as it relates to human health
GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)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 | |||
ABCD4 | - | - |
GRCh38 GRCh37 |
417 | 439 | |
ACOT1 | - | - |
GRCh38 GRCh37 |
- | 98 | |
ACOT2 | - | - |
GRCh38 GRCh37 |
- | 42 | |
ACOT4 | - | - |
GRCh38 GRCh37 |
- | 39 | |
ACOT6 | - | - |
GRCh38 GRCh37 |
- | 20 | |
ACYP1 | - | - |
GRCh38 GRCh37 |
1 | 20 | |
ADAM20 | - | - |
GRCh38 GRCh37 |
32 | 42 | |
ADAM21 | - | - |
GRCh38 GRCh37 |
26 | 37 | |
ADCK1 | - | - |
GRCh38 GRCh37 |
21 | 45 | |
AHSA1 | - | - |
GRCh38 GRCh37 |
10 | 32 |
There are 495 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 19, 2010 | RCV000134154.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 30, 2023