ClinVar Genomic variation as it relates to human health
NC_000017.10:g.(?_37821613)_(38458253_?)dup
Germline
Classification
(1)
Uncertain significance
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 | |||
THRA | No evidence available | No evidence available |
GRCh38 GRCh37 |
48 | 62 | |
CASC3 | - | - |
GRCh38 GRCh37 |
24 | 31 | |
CDC6 | - | - |
GRCh38 GRCh37 |
181 | 189 | |
CSF3 | - | - |
GRCh38 GRCh37 |
11 | 19 | |
ERBB2 | - | - |
GRCh38 GRCh37 |
674 | 688 | |
GRB7 | - | - |
GRCh38 GRCh37 |
36 | 44 | |
GSDMA | - | - |
GRCh38 GRCh37 |
16 | 24 | |
GSDMB | - | - |
GRCh38 GRCh37 |
13 | 26 | |
IKZF3 | - | - |
GRCh38 GRCh37 |
24 | 35 | |
LRRC3C | - | - | - |
GRCh38 GRCh37 |
13 | 21 |
There are 12 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Feb 10, 2022 | RCV003113302.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023