ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7p14.1-12.3(chr7:41124364-47945566)
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 | |||
GLI3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1114 | 1143 | |
CAMK2B | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
698 | 726 | |
ADCY1 | - | - |
GRCh38 GRCh37 |
261 | 293 | |
AEBP1 | - | - |
GRCh38 GRCh37 |
504 | 532 | |
BLVRA | - | - |
GRCh38 GRCh37 |
49 | 74 | |
C7orf25 | - | - | - |
GRCh38 GRCh37 |
3 | 31 |
CCM2 | - | - |
GRCh38 GRCh37 |
300 | 351 | |
COA1 | - | - |
GRCh38 GRCh37 |
10 | 45 | |
DBNL | - | - |
GRCh38 GRCh37 |
30 | 218 | |
DDX56 | - | - |
GRCh38 GRCh37 |
40 | 68 |
There are 36 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) |
|
Mar 15, 2021 | RCV001352654.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022