ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p36.22-36.21(chr1:11690766-12835739)
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 | |||
MFN2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1239 | 1343 | |
AADACL3 | - | - | - |
GRCh38 GRCh37 |
18 | 64 |
AADACL4 | - | - | - |
GRCh38 GRCh37 |
37 | 84 |
AGTRAP | - | - |
GRCh38 GRCh37 |
17 | 66 | |
C1orf167 | - | - | - |
GRCh38 GRCh37 |
- | 59 |
CFAP107 | - | - | - |
GRCh38 GRCh37 |
3 | 46 |
CLCN6 | - | - |
GRCh38 GRCh37 |
789 | 865 | |
DHRS3 | - | - |
GRCh38 GRCh37 |
32 | 77 | |
DRAXIN | - | - |
GRCh38 GRCh37 |
22 | 70 | |
FBXO2 | - | - |
GRCh38 GRCh37 |
26 | 73 |
There are 13 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) |
|
Nov 1, 2018 | RCV000767547.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022