ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)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 |
418 | 469 | |
MAD2L2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
116 | 175 | |
MFN2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1248 | 1354 | |
TARDBP | No evidence available | No evidence available |
GRCh38 GRCh37 |
246 | 360 | |
AADACL3 | - | - | - |
GRCh38 GRCh37 |
19 | 66 |
AADACL4 | - | - | - |
GRCh38 GRCh37 |
41 | 89 |
AGMAT | - | - |
GRCh38 GRCh37 |
22 | 61 | |
AGTRAP | - | - |
GRCh38 GRCh37 |
18 | 70 | |
ANGPTL7 | - | - |
GRCh38 GRCh37 |
- | 79 | |
C1orf127 | - | - |
GRCh38 GRCh37 |
9 | 58 |
There are 362 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
|
Pathogenic (1) |
|
Sep 27, 2013 | RCV000140873.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024