ClinVar Genomic variation as it relates to human health
GRCh37/hg19 14q24.3(chr14:74386185-74726710)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 | |||
ALDH6A1 | - | - |
GRCh38 GRCh37 |
7 | 226 | |
BBOF1 | - | - |
GRCh38 GRCh37 |
23 | 243 | |
COQ6 | - | - |
GRCh38 GRCh37 |
70 | 312 | |
ENTPD5 | - | - |
GRCh38 GRCh37 |
23 | 249 | |
FAM161B | - | - | - |
GRCh38 GRCh37 |
46 | 84 |
LIN52 | - | - | - |
GRCh38 GRCh37 |
7 | 25 |
VSX2 | - | - |
GRCh38 GRCh37 |
465 | 483 | |
ZNF410 | - | - |
GRCh38 GRCh37 |
21 | 42 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
May 10, 2023 | RCV003485043.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024