ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p36.22-36.21(chr1:10246640-12841900)x1
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 | |||
CASZ1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
391 | 439 | |
MFN2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1239 | 1343 | |
TARDBP | No evidence available | No evidence available |
GRCh38 GRCh37 |
238 | 345 | |
AADACL3 | - | - | - |
GRCh38 GRCh37 |
18 | 64 |
AADACL4 | - | - | - |
GRCh38 GRCh37 |
37 | 84 |
AGTRAP | - | - |
GRCh38 GRCh37 |
17 | 66 | |
ANGPTL7 | - | - |
GRCh38 GRCh37 |
- | 74 | |
C1orf127 | - | - |
GRCh38 GRCh37 |
9 | 55 | |
C1orf167 | - | - | - |
GRCh38 GRCh37 |
- | 59 |
CENPS | - | - |
GRCh38 GRCh37 |
- | 45 |
There are 30 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) |
|
Aug 31, 2018 | RCV000846372.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022