ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17q25.3(chr17:80656331-81009672)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
B3GNTL1 | - | - |
GRCh38 GRCh38 GRCh37 |
32 | 106 | |
FN3K | - | - |
GRCh38 GRCh37 |
21 | 71 | |
FN3KRP | - | - |
GRCh38 GRCh37 |
27 | 84 | |
RAB40B | - | - |
GRCh38 GRCh37 |
19 | 71 | |
TBCD | - | - |
GRCh38 GRCh38 GRCh37 |
1174 | 1391 | |
ZNF750 | - | - |
GRCh38 GRCh37 |
- | 131 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
May 1, 2023 | RCV003312408.10 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 04, 2024