ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17p12(chr17:14098786-15495266)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 | |||
PMP22 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
403 | 521 | |
CDRT15 | - | - | - |
GRCh38 GRCh37 |
12 | 111 |
CDRT4 | - | - | - |
GRCh38 GRCh37 |
- | 118 |
COX10 | - | - |
GRCh38 GRCh37 |
245 | 375 | |
FBXW10B | - | - |
GRCh38 GRCh37 |
8 | 55 | |
HS3ST3B1 | - | - |
GRCh38 GRCh37 |
27 | 128 | |
TEKT3 | - | - |
GRCh38 GRCh37 |
40 | 149 | |
TVP23C | - | - | - |
GRCh38 GRCh37 |
- | 107 |
TVP23C-CDRT4 | - | - | - |
GRCh38 GRCh37 |
- | 119 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Feb 7, 2017 | RCV000515567.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022