ClinVar Genomic variation as it relates to human health
GRCh38/hg38 14q32.33(chr14:105138612-106877229)x1
Germline
Classification
(1)
Uncertain significance
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 | |||
BRF1 | - | - |
GRCh38 GRCh37 |
146 | 334 | |
BTBD6 | - | - | - |
GRCh38 GRCh37 |
- | 117 |
CRIP1 | - | - |
GRCh38 GRCh37 |
12 | 90 | |
CRIP2 | - | - |
GRCh38 GRCh37 |
18 | - | |
FAM30A | - | - |
GRCh38 GRCh38 |
- | 36 | |
IGH |
|
- | - |
GRCh38 GRCh38 GRCh37 |
10 | - |
IGHA1 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 72 | |
IGHA2 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 71 | |
IGHD | - | - |
GRCh38 GRCh38 GRCh37 |
- | 72 | |
IGHD1-1 | - | - | - |
GRCh38 GRCh38 |
- | 36 |
There are 148 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
|
Uncertain significance (1) |
|
Oct 22, 2013 | RCV000142111.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024