ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p36.23-36.21(chr1:9064492-12666744)x1
Germline
Classification
(1)
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 | |||
CASZ1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
391 | 439 | |
MAD2L2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
114 | 170 | |
MFN2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1239 | 1343 | |
TARDBP | No evidence available | No evidence available |
GRCh38 GRCh37 |
238 | 345 | |
AADACL4 | - | - | - |
GRCh38 GRCh37 |
37 | 84 |
AGTRAP | - | - |
GRCh38 GRCh37 |
17 | 66 | |
ANGPTL7 | - | - |
GRCh38 GRCh37 |
- | 74 | |
C1orf127 | - | - |
GRCh38 GRCh37 |
9 | 55 | |
C1orf167 | - | - | - |
GRCh38 GRCh37 |
- | 59 |
C1orf167-AS1 | - | - | - | GRCh38 | - | 23 |
There are 272 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Feb 28, 2010 | RCV000133779.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024