ClinVar Genomic variation as it relates to human health
GRCh37/hg19 9q22.32(chr9:96614972-98444423)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 |
3924 | 5100 | |
AOPEP | - | - |
GRCh38 GRCh37 |
24 | 1345 | |
BARX1 | - | - |
GRCh38 GRCh37 |
13 | 47 | |
FANCC | - | - |
GRCh38 GRCh37 |
632 | 1957 | |
FBP1 | - | - |
GRCh38 GRCh37 |
313 | 352 | |
FBP2 | - | - |
GRCh38 GRCh37 |
11 | 62 | |
MFSD14B | - | - |
GRCh38 GRCh37 |
2 | 38 | |
MIR23B | - | - |
GRCh38 GRCh37 |
- | 45 | |
MIR24-1 | - | - |
GRCh38 GRCh37 |
- | 45 | |
MIR27B | - | - |
GRCh38 GRCh37 |
- | 45 |
There are 6 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) |
|
- | RCV003986837.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024