ClinVar Genomic variation as it relates to human health
GRCh38/hg38 14q24.3(chr14:73877072-78042422)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 | |||
ABCD4 | - | - |
GRCh38 GRCh37 |
426 | 448 | |
ACYP1 | - | - |
GRCh38 GRCh37 |
1 | 20 | |
ADCK1 | - | - |
GRCh38 GRCh37 |
30 | 54 | |
AHSA1 | - | - |
GRCh38 GRCh37 |
13 | 35 | |
ALDH6A1 | - | - |
GRCh38 GRCh37 |
7 | 225 | |
ALKBH1 | - | - |
GRCh38 GRCh37 |
22 | 49 | |
ANGEL1 | - | - |
GRCh38 GRCh37 |
43 | 64 | |
AREL1 | - | - |
GRCh38 GRCh37 |
54 | 71 | |
BATF | - | - |
GRCh38 GRCh37 |
2 | 21 | |
BBOF1 | - | - |
GRCh38 GRCh37 |
20 | 239 |
There are 219 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 12, 2011 | RCV000051548.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 30, 2023