ClinVar Genomic variation as it relates to human health
NC_000010.10:g.43611191_61663279inv
Germline
Classification
(1)
Likely 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 | |||
RET | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3528 | 3648 | |
GDF2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
254 | 371 | |
A1CF | - | - |
GRCh38 GRCh37 |
28 | 48 | |
AGAP10 | - | - | - | GRCh37 | - | 103 |
AGAP4 | - | - | - |
GRCh38 GRCh37 |
73 | 111 |
AGAP6 | - | - | - |
GRCh38 GRCh37 |
- | 122 |
AGAP9 | - | - | - |
GRCh38 GRCh37 |
- | 111 |
ALOX5 | - | - |
GRCh38 GRCh38 GRCh37 |
32 | 57 | |
ANXA8 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 115 | |
ANXA8L1 | - | - | - |
GRCh38 GRCh37 |
10 | 120 |
There are 67 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 |
---|---|---|---|---|
Pediatric metastatic thyroid tumour
|
Likely pathogenic (1) |
|
Jan 19, 2018 | RCV000585841.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023