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 |
1255 | 1361 | |
AADACL3 | - | - | - |
GRCh38 GRCh37 |
19 | 66 |
AADACL4 | - | - | - |
GRCh38 GRCh37 |
41 | 89 |
AGTRAP | - | - |
GRCh38 GRCh37 |
18 | 70 | |
C1orf167 | - | - | - |
GRCh38 GRCh37 |
- | 62 |
CFAP107 | - | - | - |
GRCh38 GRCh37 |
3 | 47 |
CLCN6 | - | - |
GRCh38 GRCh37 |
801 | 880 | |
DHRS3 | - | - |
GRCh38 GRCh37 |
34 | 80 | |
DRAXIN | - | - |
GRCh38 GRCh37 |
23 | 74 | |
FBXO2 | - | - |
GRCh38 GRCh37 |
28 | 78 |
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