ClinVar Genomic variation as it relates to human health
NC_000014.8:g.(?_77743719)_(78082922_?)del
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 | |||
AHSA1 | - | - |
GRCh38 GRCh37 |
13 | 36 | |
GSTZ1 | - | - |
GRCh38 GRCh37 |
26 | 49 | |
ISM2 | - | - |
GRCh38 GRCh37 |
50 | 73 | |
NOXRED1 | - | - | - |
GRCh38 GRCh37 |
24 | 45 |
POMT2 | - | - |
GRCh38 GRCh37 |
1136 | 1206 | |
SAMD15 | - | - | - |
GRCh38 GRCh37 |
32 | 51 |
SPTLC2 | - | - |
GRCh38 GRCh37 |
614 | 640 | |
TMED8 | - | - | - |
GRCh38 GRCh37 |
13 | 35 |
VIPAS39 | - | - |
GRCh38 GRCh37 |
248 | 271 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 22, 2022 | RCV001996609.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 10, 2024