ClinVar Genomic variation as it relates to human health
GRCh38/hg38 11q12.2(chr11:61181337-61516830)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
SDHAF2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
542 | 558 | |
CPSF7 | - | - | - |
GRCh38 GRCh37 |
9 | 24 |
CYB561A3 | - | - |
GRCh38 GRCh37 |
7 | 30 | |
DDB1 | - | - |
GRCh38 GRCh37 |
50 | 65 | |
LOC105369329 | - | - | - | GRCh38 | - | 2 |
LOC121392920 | - | - | - | GRCh38 | - | 5 |
LOC126861223 | - | - | - | GRCh38 | - | 3 |
LOC126861224 | - | - | - | GRCh38 | - | 3 |
LOC129390287 | - | - | - | GRCh38 | - | 2 |
LOC130005797 | - | - | - | GRCh38 | - | 1 |
There are 15 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Sep 21, 2012 | RCV000139309.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023