ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p36.22-36.21(chr1:11021751-15236671)x3
Germline
Classification
(1)
Likely pathogenic
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 | 173 | |
MFN2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1243 | 1349 | |
TARDBP | No evidence available | No evidence available |
GRCh38 GRCh37 |
239 | 350 | |
AADACL3 | - | - | - |
GRCh38 GRCh37 |
18 | 65 |
AADACL4 | - | - | - |
GRCh38 GRCh37 |
37 | 85 |
AGTRAP | - | - |
GRCh38 GRCh37 |
17 | 69 | |
ANGPTL7 | - | - |
GRCh38 GRCh37 |
- | 77 | |
C1orf167 | - | - | - |
GRCh38 GRCh37 |
- | 62 |
C1orf167-AS1 | - | - | - | GRCh38 | - | 23 |
CFAP107 | - | - | - |
GRCh38 GRCh37 |
3 | 47 |
There are 201 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Likely pathogenic (1) |
|
Sep 27, 2013 | RCV000141823.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024