ClinVar Genomic variation as it relates to human health
GRCh37/hg19 14q32.31-32.33(chr14:103153637-107285437)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 | |||
CDC42BPB | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
207 | 277 | |
AKT1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
781 | 852 | |
ADSS1 | - | - |
GRCh38 GRCh37 |
397 | 483 | |
AHNAK2 | - | - |
GRCh38 GRCh37 |
1178 | 1248 | |
AMN | - | - |
GRCh38 GRCh37 |
458 | 637 | |
ASPG | - | - |
GRCh38 GRCh37 |
44 | 106 | |
ATP5MJ | - | - |
GRCh38 GRCh37 |
1 | 61 | |
BAG5 | - | - |
GRCh38 GRCh37 |
37 | 100 | |
BRF1 | - | - |
GRCh38 GRCh37 |
150 | 341 | |
BTBD6 | - | - | - |
GRCh38 GRCh37 |
- | 120 |
There are 48 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Jan 12, 2015 | RCV000510629.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024