ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p36.21-36.12(chr1:16194137-20561434)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 | |||
SDHB | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
1291 | 1406 | |
SPEN | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
500 | 532 | |
ACTL8 | - | - | - |
GRCh38 GRCh37 |
20 | 44 |
AKR7A2 | - | - |
GRCh38 GRCh37 |
24 | 46 | |
AKR7A3 | - | - |
GRCh38 GRCh37 |
37 | 59 | |
AKR7L | - | - |
GRCh38 GRCh37 |
- | 22 | |
ALDH4A1 | - | - |
GRCh38 GRCh37 |
273 | 330 | |
ARHGEF10L | - | - |
GRCh38 GRCh37 |
81 | 102 | |
ARHGEF19 | - | - |
GRCh38 GRCh38 GRCh37 |
46 | 79 | |
ATP13A2 | - | - |
GRCh38 GRCh38 GRCh37 |
1030 | 1065 |
There are 50 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 |
---|---|---|---|---|
Pathogenic (1) |
|
- | RCV003986551.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024