ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3q27.1-27.2(chr3:184493051-185493146)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
C3orf70 | - | - | - |
GRCh38 GRCh37 |
4 | 47 |
EHHADH | - | - |
GRCh38 GRCh37 |
207 | 252 | |
IGF2BP2 | - | - |
GRCh38 GRCh37 |
15 | 67 | |
LIPH | - | - |
GRCh38 GRCh37 |
77 | 124 | |
MAP3K13 | - | - |
GRCh38 GRCh37 |
29 | 101 | |
SENP2 | - | - |
GRCh38 GRCh37 |
20 | 66 | |
TMEM41A | - | - | - |
GRCh38 GRCh37 |
9 | 55 |
VPS8 | - | - |
GRCh38 GRCh37 |
88 | 131 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 11, 2018 | RCV001005496.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022