ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7p14.3-13(chr7:30463886-43470805)x3
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 | |||
GLI3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1154 | 1183 | |
CDK13 | Some evidence for dosage pathogenicity | Not yet evaluated |
GRCh38 GRCh37 |
706 | 831 | |
TBX20 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
559 | 580 | |
ADCYAP1R1 | - | - |
GRCh38 GRCh37 |
23 | 54 | |
AMPH | - | - |
GRCh38 GRCh37 |
51 | 75 | |
ANLN | - | - |
GRCh38 GRCh37 |
417 | 446 | |
AOAH | - | - |
GRCh38 GRCh37 |
48 | 69 | |
AQP1 | - | - |
GRCh38 GRCh37 |
50 | 81 | |
AVL9 | - | - |
GRCh38 GRCh37 |
37 | 59 | |
BBS9 | - | - |
GRCh38 GRCh37 |
1126 | 1162 |
There are 43 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) |
|
Sep 25, 2017 | RCV000682909.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022