ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p36.21-36.12(chr1:16041431-21295864)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 | |||
SDHB | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
1327 | 1445 | |
SPEN | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
574 | 608 | |
ACTL8 | - | - | - |
GRCh38 GRCh37 |
24 | 49 |
AKR7A2 | - | - |
GRCh38 GRCh37 |
28 | 51 | |
AKR7A3 | - | - |
GRCh38 GRCh37 |
43 | 66 | |
AKR7L | - | - |
GRCh38 GRCh37 |
- | 23 | |
ALDH4A1 | - | - |
GRCh38 GRCh37 |
279 | 338 | |
ARHGEF10L | - | - |
GRCh38 GRCh37 |
91 | 113 | |
ARHGEF19 | - | - |
GRCh38 GRCh38 GRCh37 |
51 | 87 | |
ATP13A2 | - | - |
GRCh38 GRCh38 GRCh37 |
1040 | 1076 |
There are 65 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) |
|
Oct 16, 2019 | RCV001259568.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023