ClinVar Genomic variation as it relates to human health
GRCh38/hg38 14q31.1-31.3(chr14:79330723-85885507)x3
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 | |||
CEP128 | - | - |
GRCh38 GRCh37 |
77 | 134 | |
DIO2 | - | - |
GRCh38 GRCh37 |
12 | 28 | |
DIO2-AS1 | - | - | - | GRCh38 | - | 9 |
FLRT2 | - | - |
GRCh38 GRCh37 |
37 | 58 | |
FLRT2-AS1 | - | - | - | GRCh38 | - | 5 |
GTF2A1 | - | - |
GRCh38 GRCh37 |
7 | 23 | |
GTF2A1-AS1 | - | - | - | GRCh38 | - | 6 |
LINC00911 | - | - | - | GRCh38 | - | 5 |
LINC01467 | - | - | - | GRCh38 | - | 6 |
LINC02301 | - | - | - | GRCh38 | - | 5 |
There are 50 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 23, 2012 | RCV000138323.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024