ClinVar Genomic variation as it relates to human health
GRCh37/hg19 9q22.32(97579146-99280739)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 |
4141 | 5382 | |
AOPEP | - | - |
GRCh38 GRCh37 |
26 | 1419 | |
CDC14B | - | - |
GRCh38 GRCh37 |
34 | 81 | |
ERCC6L2 | - | - |
GRCh38 GRCh37 |
874 | 917 | |
ERCC6L2-AS1 | - | - | - | GRCh38 | - | 18 |
FANCC | - | - |
GRCh38 GRCh37 |
684 | 2083 | |
HABP4 | - | - |
GRCh38 GRCh37 |
32 | 73 | |
HSD17B3 | - | - |
GRCh38 GRCh37 |
9 | 351 | |
HSD17B3-AS1 | - | - | - | GRCh38 | - | 38 |
LINC00092 | - | - | - | GRCh38 | - | 18 |
There are 86 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
- | RCV000201243.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jan 13, 2025