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 |
426 | 448 | |
ACOT1 | - | - |
GRCh38 GRCh37 |
- | 126 | |
ACOT2 | - | - |
GRCh38 GRCh37 |
- | 59 | |
ACOT4 | - | - |
GRCh38 GRCh37 |
- | 48 | |
ACOT6 | - | - |
GRCh38 GRCh37 |
- | 22 | |
ACYP1 | - | - |
GRCh38 GRCh37 |
1 | 20 | |
ADAM20 | - | - |
GRCh38 GRCh37 |
46 | 56 | |
ADAM21 | - | - |
GRCh38 GRCh37 |
41 | 52 | |
ADCK1 | - | - |
GRCh38 GRCh37 |
30 | 54 | |
AHSA1 | - | - |
GRCh38 GRCh37 |
13 | 36 |
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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 19, 2010 | RCV000134154.8 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024