ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
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 | |||
SPEN | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
501 | 533 | |
MFN2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1239 | 1343 | |
AADACL3 | - | - | - |
GRCh38 GRCh37 |
18 | 64 |
AADACL4 | - | - | - |
GRCh38 GRCh37 |
37 | 84 |
AGMAT | - | - |
GRCh38 GRCh37 |
20 | 57 | |
AGTRAP | - | - |
GRCh38 GRCh37 |
17 | 66 | |
ANGPTL7 | - | - |
GRCh38 GRCh37 |
- | 74 | |
ARHGEF19 | - | - |
GRCh38 GRCh38 GRCh37 |
46 | 79 | |
C1orf167 | - | - | - |
GRCh38 GRCh37 |
- | 59 |
C1orf167-AS1 | - | - | - | GRCh38 | - | 23 |
There are 280 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) |
|
Aug 12, 2011 | RCV000053766.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023