ClinVar Genomic variation as it relates to human health
GRCh37/hg19 10p11.21-q11.22(chr10:37149872-46169876)x3
Germline
Classification
(1)
Likely 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 | |||
RET | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3580 | 3702 | |
ALOX5 | - | - |
GRCh38 GRCh38 GRCh37 |
36 | 61 | |
ANKRD30A | - | - |
GRCh38 GRCh37 |
90 | 104 | |
BMS1 | - | - |
GRCh38 GRCh37 |
145 | 163 | |
CSGALNACT2 | - | - |
GRCh38 GRCh37 |
38 | 58 | |
CXCL12 | - | - |
GRCh38 GRCh37 |
43 | 60 | |
DEPP1 | - | - |
GRCh38 GRCh37 |
- | 21 | |
FXYD4 | - | - |
GRCh38 GRCh37 |
6 | 27 | |
HNRNPF | - | - |
GRCh38 GRCh37 |
13 | 33 | |
MARCHF8 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 22 |
There are 16 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Jun 11, 2018 | RCV000762700.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023