ClinVar Genomic variation as it relates to human health
GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)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 |
196 | 265 | |
MEG3 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
48 | 88 | |
AKT1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
764 | 835 | |
DLK1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
59 | 98 | |
DYNC1H1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
4369 | 4602 | |
ADSS1 | - | - |
GRCh38 GRCh37 |
394 | 477 | |
AHNAK2 | - | - |
GRCh38 GRCh37 |
1076 | 1146 | |
AK7 | - | - |
GRCh38 GRCh37 |
330 | 361 | |
AMN | - | - |
GRCh38 GRCh37 |
454 | 633 | |
ANKRD9 | - | - |
GRCh38 GRCh37 |
31 | 90 |
There are 746 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Sep 21, 2012 | RCV000136032.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024