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 | 170 | |
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 | |
ANGPTL7 | - | - |
GRCh38 GRCh37 |
- | 74 | |
C1orf167 | - | - | - |
GRCh38 GRCh37 |
- | 59 |
CFAP107 | - | - | - |
GRCh38 GRCh37 |
3 | 46 |
CLCN6 | - | - |
GRCh38 GRCh37 |
789 | 865 | |
DHRS3 | - | - |
GRCh38 GRCh37 |
32 | 77 |
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 |
---|---|---|---|---|
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