ClinVar Genomic variation as it relates to human health
GRCh38/hg38 9q22.32-22.33(chr9:94713892-98121186)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 | |||
PTCH1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3924 | 5100 | |
ANP32B | - | - |
GRCh38 GRCh37 |
8 | 45 | |
AOPEP | - | - |
GRCh38 GRCh37 |
23 | 1344 | |
CCDC180 | - | - | - |
GRCh38 GRCh37 |
- | 142 |
CDC14B | - | - |
GRCh38 GRCh37 |
29 | 75 | |
CORO2A | - | - |
GRCh38 GRCh37 |
38 | 79 | |
CTSV | - | - |
GRCh38 GRCh37 |
14 | 48 | |
ERCC6L2 | - | - |
GRCh38 GRCh37 |
790 | 833 | |
ERCC6L2-AS1 | - | - | - | GRCh38 | - | 18 |
FANCC | - | - |
GRCh38 GRCh37 |
632 | 1957 |
There are 189 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) |
|
Nov 30, 2010 | RCV000135303.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023