ClinVar Genomic variation as it relates to human health
GRCh38/hg38 14q32.33(chr14:105573256-106855263)x3
Germline
Classification
(2)
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 | |||
FAM30A | - | - |
GRCh38 GRCh38 |
- | 36 | |
IGH |
|
- | - |
GRCh38 GRCh38 GRCh37 |
10 | 180 |
IGHA1 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 72 | |
IGHA2 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 71 | |
IGHD | - | - |
GRCh38 GRCh38 GRCh37 |
- | 72 | |
IGHD1-1 | - | - | - |
GRCh38 GRCh38 |
- | 36 |
IGHD1-14 | - | - | - |
GRCh38 GRCh38 |
- | 36 |
IGHD1-20 | - | - | - |
GRCh38 GRCh38 |
- | 36 |
IGHD1-26 | - | - | - |
GRCh38 GRCh38 |
- | 36 |
IGHD1-7 | - | - | - |
GRCh38 GRCh38 |
- | 38 |
There are 97 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
|
Pathogenic (2) |
|
May 7, 2013 | RCV000137104.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024