ClinVar Genomic variation as it relates to human health
GRCh38/hg38 14q32.33(chr14:104953508-106873666)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 | |||
AHNAK2 | - | - |
GRCh38 GRCh37 |
1066 | 1134 | |
BRF1 | - | - |
GRCh38 GRCh37 |
145 | 329 | |
BTBD6 | - | - | - |
GRCh38 GRCh37 |
- | 115 |
CDCA4 | - | - |
GRCh38 GRCh37 |
19 | 87 | |
CLBA1 | - | - | - |
GRCh38 GRCh37 |
6 | 74 |
CRIP1 | - | - |
GRCh38 GRCh37 |
12 | 89 | |
CRIP2 | - | - |
GRCh38 GRCh37 |
18 | 94 | |
FAM30A | - | - |
GRCh38 GRCh38 |
- | 36 | |
GPR132 | - | - |
GRCh38 GRCh37 |
28 | 99 | |
IGH |
|
- | - |
GRCh38 GRCh38 GRCh37 |
10 | 179 |
There are 177 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Nov 30, 2010 | RCV000135387.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023