ClinVar Genomic variation as it relates to human health
GRCh37/hg19 14q24.2-q24.3(chr14:73152115..77698582)
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 | |||
ABCD4 | - | - |
GRCh38 GRCh37 |
425 | 447 | |
ACOT1 | - | - |
GRCh38 GRCh37 |
- | 126 | |
ACOT2 | - | - |
GRCh38 GRCh37 |
- | 59 | |
ACOT4 | - | - |
GRCh38 GRCh37 |
- | 48 | |
ACOT6 | - | - |
GRCh38 GRCh37 |
- | 22 | |
ACYP1 | - | - |
GRCh38 GRCh37 |
1 | 20 | |
ALDH6A1 | - | - |
GRCh38 GRCh37 |
7 | 225 | |
ANGEL1 | - | - |
GRCh38 GRCh37 |
43 | 64 | |
AREL1 | - | - |
GRCh38 GRCh37 |
54 | 71 | |
BATF | - | - |
GRCh38 GRCh37 |
2 | 21 |
There are 51 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Oct 1, 2014 | RCV000190520.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 13, 2023