ClinVar Genomic variation as it relates to human health
GRCh38/hg38 14q24.3-31.1(chr14:77193005-80476132)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 | |||
ADCK1 | - | - |
GRCh38 GRCh37 |
34 | 58 | |
AHSA1 | - | - |
GRCh38 GRCh37 |
15 | 38 | |
ALKBH1 | - | - |
GRCh38 GRCh37 |
26 | 54 | |
C14orf178 | - | - | - |
GRCh38 GRCh37 |
- | 20 |
DIO2 | - | - |
GRCh38 GRCh37 |
13 | 29 | |
DIO2-AS1 | - | - | - | GRCh38 | - | 9 |
GSTZ1 | - | - |
GRCh38 GRCh37 |
27 | 51 | |
ISM2 | - | - |
GRCh38 GRCh37 |
57 | 80 | |
LOC105370586 | - | - | - | GRCh38 | - | 8 |
LOC105370589 | - | - | - | GRCh38 | - | 17 |
There are 64 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
|
Likely pathogenic (1) |
|
Apr 14, 2011 | RCV000137421.8 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024