ClinVar Genomic variation as it relates to human health
GRCh38/hg38 14q32.33(chr14:104872858-105605042)x3
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 |
1178 | 1248 | |
BRF1 | - | - |
GRCh38 GRCh37 |
150 | 341 | |
BTBD6 | - | - | - |
GRCh38 GRCh37 |
- | 120 |
CDCA4 | - | - |
GRCh38 GRCh37 |
20 | 90 | |
CEP170B | - | - |
GRCh38 GRCh37 |
245 | 315 | |
CLBA1 | - | - | - |
GRCh38 GRCh37 |
6 | 76 |
CRIP1 | - | - |
GRCh38 GRCh37 |
13 | 91 | |
CRIP2 | - | - |
GRCh38 GRCh37 |
20 | 97 | |
GPR132 | - | - |
GRCh38 GRCh37 |
34 | 107 | |
IGH |
|
- | - |
GRCh38 GRCh38 GRCh37 |
10 | 180 |
There are 77 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) |
|
Sep 17, 2012 | RCV000139617.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024