ClinVar Genomic variation as it relates to human health
GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3
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 | |
ZNF462 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
362 | 432 | |
TGFBR1 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
975 | 1052 | |
GALNT12 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1313 | 1420 | |
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 |
673 | 713 | |
ABCA1 | - | - |
GRCh38 GRCh37 |
1131 | 1442 | |
ABITRAM | - | - |
GRCh38 GRCh37 |
10 | 58 | |
ACTL7A | - | - |
GRCh38 GRCh37 |
39 | 79 |
There are 986 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 | RCV000053752.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023