ClinVar Genomic variation as it relates to human health
GRCh37/hg19 14q32.2-32.33(chr14:96829290-107287663)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 |
194 | 261 | |
MEG3 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
46 | 86 | |
AKT1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
764 | 833 | |
DLK1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
59 | 98 | |
ADSS1 | - | - |
GRCh38 GRCh37 |
392 | 472 | |
AHNAK2 | - | - |
GRCh38 GRCh37 |
1066 | 1134 | |
AK7 | - | - |
GRCh38 GRCh37 |
329 | 360 | |
AMN | - | - |
GRCh38 GRCh37 |
453 | 628 | |
ANKRD9 | - | - |
GRCh38 GRCh37 |
31 | 86 | |
ASPG | - | - |
GRCh38 GRCh37 |
38 | 98 |
There are 104 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 18, 2019 | RCV001195078.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023