ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7p14.3-14.1(chr7:32678391-41044983)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 | |||
CDK13 | Some evidence for dosage pathogenicity | Not yet evaluated |
GRCh38 GRCh37 |
718 | 843 | |
TBX20 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
564 | 585 | |
AMPH | - | - |
GRCh38 GRCh37 |
51 | 75 | |
ANLN | - | - |
GRCh38 GRCh37 |
417 | 446 | |
AOAH | - | - |
GRCh38 GRCh37 |
48 | 69 | |
AOAH-IT1 | - | - | - | GRCh38 | - | 6 |
BBS9 | - | - |
GRCh38 GRCh37 |
1131 | 1167 | |
BMPER | - | - |
GRCh38 GRCh37 |
340 | 365 | |
CDK13-DT | - | - | - | GRCh38 | - | 11 |
DPY19L1 | - | - |
GRCh38 GRCh37 |
34 | 60 |
There are 221 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) |
|
Apr 30, 2011 | RCV000140283.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023