ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q21.2(chr15:50582422-51322910)x1
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 | |||
AP4E1 | - | - |
GRCh38 GRCh37 |
526 | 562 | |
GABPB1 | - | - |
GRCh38 GRCh37 |
3 | 26 | |
SPPL2A | - | - |
GRCh38 GRCh37 |
270 | 339 | |
TRPM7 | - | - |
GRCh38 GRCh37 |
132 | 184 | |
USP50 | - | - |
GRCh38 GRCh37 |
24 | 89 | |
USP8 | - | - |
GRCh38 GRCh37 |
126 | 191 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Oct 21, 2022 | RCV003483233.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024