ClinVar Genomic variation as it relates to human health
GRCh38/hg38 14q32.31-32.33(chr14:102584963-104898605)x1
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
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 | |||
CDC42BPB | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
192 | 259 | |
AKT1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
764 | 833 | |
ADSS1 | - | - |
GRCh38 GRCh37 |
392 | 472 | |
AMN | - | - |
GRCh38 GRCh37 |
453 | 628 | |
ASPG | - | - |
GRCh38 GRCh37 |
38 | 98 | |
ATP5MJ | - | - |
GRCh38 GRCh37 |
1 | 59 | |
BAG5 | - | - |
GRCh38 GRCh37 |
32 | 93 | |
C14orf180 | - | - |
GRCh38 GRCh38 GRCh37 |
1 | 65 | |
CEP170B | - | - |
GRCh38 GRCh37 |
214 | 282 | |
CKB | - | - |
GRCh38 GRCh37 |
15 | 74 |
There are 169 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000051580.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023