ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p36.21-36.13(chr1:13619979-18466172)x3
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 |
1292 | 1407 | |
SPEN | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
501 | 533 | |
ACTL8 | - | - | - |
GRCh38 GRCh37 |
20 | 44 |
AGMAT | - | - |
GRCh38 GRCh37 |
20 | 57 | |
ARHGEF10L | - | - |
GRCh38 GRCh37 |
81 | 102 | |
ARHGEF19 | - | - |
GRCh38 GRCh38 GRCh37 |
47 | 80 | |
ATP13A2 | - | - |
GRCh38 GRCh38 GRCh37 |
1030 | 1065 | |
CASP9 | - | - |
GRCh38 GRCh37 |
48 | 76 | |
CELA2A | - | - |
GRCh38 GRCh37 |
20 | 48 | |
CELA2B | - | - |
GRCh38 GRCh37 |
16 | 44 |
There are 203 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 | RCV000051799.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023