ClinVar Genomic variation as it relates to human health
GRCh37/hg19 14q24.1-24.2(chr14:68035240-73568130)x1
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 | |||
ACTN1 | - | - |
GRCh38 GRCh37 |
381 | 393 | |
ADAM20 | - | - |
GRCh38 GRCh37 |
53 | 63 | |
ADAM21 | - | - |
GRCh38 GRCh37 |
46 | 57 | |
ARG2 | - | - |
GRCh38 GRCh37 |
- | 51 | |
CCDC177 | - | - | - |
GRCh38 GRCh37 |
- | 10 |
COX16 | - | - |
GRCh38 GRCh37 |
- | 24 | |
DCAF4 | - | - |
GRCh38 GRCh37 |
45 | 62 | |
DCAF5 | - | - |
GRCh38 GRCh37 |
32 | 52 | |
DPF3 | - | - |
GRCh38 GRCh37 |
27 | 45 | |
ERH | - | - |
GRCh38 GRCh37 |
- | 9 |
There are 26 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 |
---|---|---|---|---|
See cases
|
Likely pathogenic (1) |
|
Aug 25, 2014 | RCV000512344.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024