ClinVar Genomic variation as it relates to human health
GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)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 | |||
SOX9 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
318 | 432 | |
CARD14 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
717 | 1170 | |
AANAT | - | - |
GRCh38 GRCh37 |
25 | 39 | |
AATK | - | - |
GRCh38 GRCh37 |
123 | 144 | |
ABCA10 | - | - |
GRCh38 GRCh37 |
92 | 108 | |
ABCA5 | - | - |
GRCh38 GRCh37 |
142 | 156 | |
ACOX1 | - | - |
GRCh38 GRCh37 |
811 | 836 | |
ACTG1 | - | - |
GRCh38 GRCh38 GRCh37 |
528 | 576 | |
AFMID | - | - | - |
GRCh38 GRCh37 |
28 | 42 |
ALYREF | - | - |
GRCh38 GRCh37 |
- | 27 |
There are 1025 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000052486.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024