ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17q24.3-25.1(chr17:69501527-71380722)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 | |||
SOX9 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
331 | 449 | |
CDC42EP4 | - | - |
GRCh38 GRCh37 |
48 | 61 | |
COG1 | - | - |
GRCh38 GRCh37 |
297 | 454 | |
CPSF4L | - | - | - |
GRCh38 GRCh37 |
14 | 29 |
MTNAP1 | - | - | - |
GRCh38 GRCh37 |
5 | 15 |
SDK2 | - | - |
GRCh38 GRCh37 |
242 | 255 | |
SLC39A11 | - | - |
GRCh38 GRCh37 |
31 | 52 | |
SSTR2 | - | - |
GRCh38 GRCh37 |
14 | 27 | |
VCF1 | - | - | - |
GRCh38 GRCh37 |
20 | 61 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jun 19, 2023 | RCV003483324.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024