ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7p14.1-12.2(chr7:40778439-50228656)
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 |
699 | 727 | |
ABCA13 | - | - |
GRCh38 GRCh37 |
391 | 420 | |
ADCY1 | - | - |
GRCh38 GRCh37 |
261 | 293 | |
AEBP1 | - | - |
GRCh38 GRCh37 |
505 | 533 | |
BLVRA | - | - |
GRCh38 GRCh37 |
49 | 74 | |
C7orf25 | - | - | - |
GRCh38 GRCh37 |
3 | 31 |
C7orf57 | - | - | - |
GRCh38 GRCh37 |
4 | 22 |
CCM2 | - | - |
GRCh38 GRCh37 |
300 | 351 | |
COA1 | - | - |
GRCh38 GRCh37 |
10 | 45 |
There are 45 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 1, 2022 | RCV002053688.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022