ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7p14.1-12.3(chr7:37303478-48660738)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 | |||
GLI3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1114 | 1143 | |
CDK13 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
669 | 791 | |
CAMK2B | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
698 | 726 | |
ABCA13 | - | - |
GRCh38 GRCh37 |
391 | 420 | |
ADCY1 | - | - |
GRCh38 GRCh37 |
261 | 293 | |
AEBP1 | - | - |
GRCh38 GRCh37 |
504 | 532 | |
AMPH | - | - |
GRCh38 GRCh37 |
43 | 67 | |
BLVRA | - | - |
GRCh38 GRCh37 |
49 | 74 | |
C7orf25 | - | - | - |
GRCh38 GRCh37 |
3 | 31 |
C7orf57 | - | - | - |
GRCh38 GRCh37 |
4 | 22 |
There are 372 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 22, 2010 | RCV000137139.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024