ClinVar Genomic variation as it relates to human health
NC_000005.9:g.(?_482643)_(1895829_?)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 | |||
TERT | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2810 | 3231 | |
SLC6A18 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
83 | 238 | |
BRD9 | - | - |
GRCh38 GRCh37 |
29 | 187 | |
CEP72 | - | - |
GRCh38 GRCh38 GRCh37 |
52 | 234 | |
CLPTM1L | - | - |
GRCh38 GRCh38 GRCh37 |
54 | 199 | |
IRX4 | - | - |
GRCh38 GRCh37 |
61 | 198 | |
LPCAT1 | - | - |
GRCh38 GRCh38 GRCh37 |
24 | 172 | |
MRPL36 | - | - |
GRCh38 GRCh37 |
7 | 164 | |
NDUFS6 | - | - |
GRCh38 GRCh37 |
199 | 356 | |
NKD2 | - | - |
GRCh38 GRCh38 GRCh37 |
56 | 210 |
There are 8 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) |
|
Oct 14, 2022 | RCV003113974.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023