ClinVar Genomic variation as it relates to human health
GRCh38/hg38 17q25.3(chr17:78225356-80099979)x1
Germline
Classification
(1)
Likely pathogenic
no assertion criteria provided
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 | |||
BIRC5 | - | - |
GRCh38 GRCh37 |
19 | 35 | |
C1QTNF1 | - | - |
GRCh38 GRCh37 |
11 | 51 | |
C1QTNF1-AS1 | - | - | - | GRCh38 | - | 7 |
CANT1 | - | - |
GRCh38 GRCh37 |
402 | 437 | |
CBX2 | - | - |
GRCh38 GRCh37 |
121 | 149 | |
CBX4 | - | - |
GRCh38 GRCh37 |
38 | 59 | |
CBX8 | - | - |
GRCh38 GRCh37 |
18 | 39 | |
CCDC40 | - | - |
GRCh38 GRCh38 GRCh37 |
954 | 997 | |
CEP295NL | - | - | - | GRCh38 | - | 7 |
CYTH1 | - | - |
GRCh38 GRCh37 |
16 | 38 |
There are 136 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Likely pathogenic (1) |
|
Aug 5, 2011 | RCV000135703.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024