ClinVar Genomic variation as it relates to human health
GRCh38/hg38 9q22.31-22.33(chr9:91596533-97018746)x1
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 | |||
PTCH1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3938 | 5117 | |
PHF2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
95 | 130 | |
CENPP | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
16 | 163 | |
ROR2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
674 | 714 | |
AOPEP | - | - |
GRCh38 GRCh37 |
24 | 1348 | |
ASPN | - | - |
GRCh38 GRCh38 GRCh37 |
- | 60 | |
BARX1 | - | - |
GRCh38 GRCh37 |
13 | 47 | |
BARX1-DT | - | - | - | GRCh38 | - | 15 |
BICD2 | - | - |
GRCh38 GRCh37 |
808 | 850 | |
CARD19 | - | - |
GRCh38 GRCh37 |
17 | 49 |
There are 260 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) |
|
Aug 12, 2011 | RCV000052916.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023