ClinVar Genomic variation as it relates to human health
GRCh37/hg19 14q32.33(chr14:104764078-107285437)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 | |||
AKT1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
764 | 833 | |
ADSS1 | - | - |
GRCh38 GRCh37 |
392 | 472 | |
AHNAK2 | - | - |
GRCh38 GRCh37 |
1061 | 1129 | |
BRF1 | - | - |
GRCh38 GRCh37 |
145 | 328 | |
BTBD6 | - | - | - |
GRCh38 GRCh37 |
- | 114 |
C14orf180 | - | - |
GRCh38 GRCh38 GRCh37 |
1 | 65 | |
CDCA4 | - | - |
GRCh38 GRCh37 |
19 | 87 | |
CEP170B | - | - |
GRCh38 GRCh37 |
214 | 282 | |
CLBA1 | - | - | - |
GRCh38 GRCh37 |
6 | 74 |
CRIP1 | - | - |
GRCh38 GRCh37 |
12 | 89 |
There are 26 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) |
|
Jun 22, 2023 | RCV001006659.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024