ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17q25.3(chr17:77679924-78559726)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
CARD14 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
717 | 1170 | |
CBX2 | - | - |
GRCh38 GRCh37 |
112 | 139 | |
CBX4 | - | - |
GRCh38 GRCh37 |
34 | 54 | |
CBX8 | - | - |
GRCh38 GRCh37 |
14 | 34 | |
CCDC40 | - | - |
GRCh38 GRCh38 GRCh37 |
947 | 989 | |
EIF4A3 | - | - |
GRCh38 GRCh38 GRCh37 |
27 | 51 | |
ENDOV | - | - |
GRCh38 GRCh37 |
25 | 51 | |
ENPP7 | - | - |
GRCh38 GRCh37 |
35 | 55 | |
GAA | - | - |
GRCh38 GRCh38 GRCh37 |
2778 | 2828 | |
NPTX1 | - | - |
GRCh38 GRCh37 |
33 | 55 |
There are 5 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
- | RCV000448916.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024