ClinVar Genomic variation as it relates to human health
NC_000014.8:g.(?_88391407)_(89343754_?)dup
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 | |||
EML5 | - | - |
GRCh38 GRCh37 |
59 | 119 | |
GALC | - | - |
GRCh38 GRCh37 |
1313 | 1426 | |
GPR65 | - | - |
GRCh38 GRCh37 |
10 | 35 | |
KCNK10 | - | - |
GRCh38 GRCh37 |
33 | 58 | |
PTPN21 | - | - |
GRCh38 GRCh37 |
71 | 109 | |
SPATA7 | - | - |
GRCh38 GRCh37 |
408 | 466 | |
TTC8 | - | - |
GRCh38 GRCh37 |
464 | 493 | |
ZC3H14 | - | - |
GRCh38 GRCh37 |
86 | 142 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 22, 2022 | RCV003119911.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023