ClinVar Genomic variation as it relates to human health
GRCh37/hg19 14q32.33(chr14:105303584-107285437)x1
Germline
Classification
(1)
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 | |||
AHNAK2 | - | - |
GRCh38 GRCh37 |
1066 | 1134 | |
BRF1 | - | - |
GRCh38 GRCh37 |
145 | 329 | |
BTBD6 | - | - | - |
GRCh38 GRCh37 |
- | 115 |
CDCA4 | - | - |
GRCh38 GRCh37 |
19 | 87 | |
CEP170B | - | - | - |
GRCh38 GRCh37 |
214 | 282 |
CLBA1 | - | - | - |
GRCh38 GRCh37 |
6 | 74 |
CRIP1 | - | - |
GRCh38 GRCh37 |
12 | 89 | |
CRIP2 | - | - |
GRCh38 GRCh37 |
18 | 94 | |
GPR132 | - | - |
GRCh38 GRCh37 |
27 | 98 | |
IGH |
|
- | - |
GRCh38 GRCh38 GRCh37 |
10 | 179 |
There are 19 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 6, 2019 | RCV001006660.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022