ClinVar Genomic variation as it relates to human health
NC_000002.11:g.(?_234665659)_(234978657_?)del
Germline
Classification
(1)
Pathogenic
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 | |||
SPP2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
183 | 230 | |
HJURP | - | - |
GRCh38 GRCh37 |
64 | 107 | |
MROH2A | - | - | - |
GRCh38 GRCh37 |
7 | 50 |
TRPM8 | - | - |
GRCh38 GRCh37 |
71 | 117 | |
UGT1A1 | - | - |
GRCh38 GRCh37 |
2 | 370 | |
UGT1A10 | - | - |
GRCh38 GRCh37 |
- | 588 | |
UGT1A3 | - | - |
GRCh38 GRCh37 |
- | 394 | |
UGT1A4 | - | - |
GRCh38 GRCh37 |
- | 420 | |
UGT1A5 | - | - |
GRCh38 GRCh37 |
- | 438 | |
UGT1A6 | - | - |
GRCh38 GRCh37 |
- | 481 |
There are 3 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 23, 2023 | RCV004583741.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024