ClinVar Genomic variation as it relates to human health
NC_000016.10:g.(?_1523498)_(2064447_?)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 | |||
TSC2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
10658 | 10852 | |
CRAMP1 | - | - | - |
GRCh38 GRCh37 |
87 | 145 |
EME2 | - | - |
GRCh38 GRCh37 |
5 | 142 | |
FAHD1 | - | - |
GRCh38 GRCh37 |
13 | 85 | |
GFER | - | - |
GRCh38 GRCh38 GRCh37 |
91 | 208 | |
HAGH | - | - |
GRCh38 GRCh37 |
20 | 77 | |
HS3ST6 | - | - |
GRCh38 GRCh38 GRCh37 |
36 | 90 | |
IFT140 | - | - |
GRCh38 GRCh37 |
1048 | 1888 | |
IGFALS | - | - |
GRCh38 GRCh37 |
175 | 229 | |
JPT2 | - | - |
GRCh38 GRCh37 |
17 | 74 |
There are 20 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) |
|
Aug 22, 2019 | RCV001032344.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023