ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)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 |
574 | 608 | |
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 | |
ARHGEF19 | - | - |
GRCh38 GRCh38 GRCh37 |
51 | 87 | |
C1orf127 | - | - |
GRCh38 GRCh37 |
9 | 58 |
There are 308 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) |
|
Aug 12, 2011 | RCV000053765.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023