ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16p13.3(chr16:2025885-2088686)x1
Germline
Classification
(1)
Pathogenic
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 | |||
TSC2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
10719 | 10914 | |
LOC130058209 | - | - | - | GRCh38 | - | 32 |
LOC130058210 | - | - | - | GRCh38 | - | 36 |
NHERF2 | - | - |
GRCh38 GRCh37 |
51 | 106 | |
NTHL1 | - | - |
GRCh38 GRCh37 |
1520 | 1641 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Feb 4, 2013 | RCV000140857.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024