ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16p13.2(chr16:8579327-9143148)x3
Germline
Classification
(1)
Uncertain significance
no assertion criteria provided
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 | |||
USP7 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
349 | 442 | |
ABAT | - | - |
GRCh38 GRCh37 |
718 | 807 | |
CARHSP1 | - | - |
GRCh38 GRCh37 |
- | 99 | |
CARHSP1-DT | - | - | - | GRCh38 | - | 14 |
HAPSTR1 | - | - | - |
GRCh38 GRCh37 |
2 | 47 |
LITAFD | - | - | - | GRCh38 | - | 16 |
LOC100130283 | - | - | - | GRCh38 | - | 41 |
LOC111776217 | - | - | - | GRCh38 | - | 11 |
LOC112486224 | - | - | - | GRCh38 | - | 12 |
LOC112486225 | - | - | - | GRCh38 | - | 13 |
There are 41 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Nov 14, 2012 | RCV000139927.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024