ClinVar Genomic variation as it relates to human health
NC_000016.9:g.(?_2003468)_(2126543_?)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 |
10634 | 10809 | |
GFER | - | - |
GRCh38 GRCh38 GRCh37 |
91 | 205 | |
NDUFB10 | - | - |
GRCh38 GRCh38 GRCh37 |
57 | 129 | |
NHERF2 | - | - |
GRCh38 GRCh37 |
47 | 99 | |
NOXO1 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 97 | |
NPW | - | - |
GRCh38 GRCh38 GRCh37 |
6 | 65 | |
NTHL1 | - | - |
GRCh38 GRCh37 |
1494 | 1600 | |
RNF151 | - | - | - |
GRCh38 GRCh38 GRCh37 |
26 | 78 |
RPL3L | - | - |
GRCh38 GRCh38 GRCh37 |
75 | 127 | |
RPS2 | - | - |
GRCh38 GRCh38 GRCh37 |
7 | 59 |
There are 4 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) |
|
Nov 13, 2020 | RCV001949704.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 10, 2024