ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p36.22-36.21(chr1:11143298-13709344)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 | |||
MAD2L2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
114 | 171 | |
MFN2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1239 | 1344 | |
AADACL3 | - | - | - |
GRCh38 GRCh37 |
18 | 65 |
AADACL4 | - | - | - |
GRCh38 GRCh37 |
37 | 85 |
AGTRAP | - | - |
GRCh38 GRCh37 |
17 | 67 | |
ANGPTL7 | - | - |
GRCh38 GRCh37 |
- | 75 | |
C1orf167 | - | - | - |
GRCh38 GRCh37 |
- | 60 |
CFAP107 | - | - | - |
GRCh38 GRCh37 |
3 | 47 |
CLCN6 | - | - |
GRCh38 GRCh37 |
789 | 866 | |
DHRS3 | - | - |
GRCh38 GRCh37 |
32 | 78 |
There are 35 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 |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Dec 14, 2014 | RCV000510407.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024