ClinVar Genomic variation as it relates to human health
GRCh38/hg38 11p15.4-15.2(chr11:9989516-16825806)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 | |||
SOX6 | No evidence available | No evidence available |
GRCh38 GRCh37 |
161 | 193 | |
ADM | - | - |
GRCh38 GRCh37 |
17 | 32 | |
ADM-DT | - | - | - | GRCh38 | - | 4 |
AMPD3 | - | - |
GRCh38 GRCh37 |
166 | 180 | |
BMAL1 | - | - |
GRCh38 GRCh37 |
25 | 37 | |
BTBD10 | - | - |
GRCh38 GRCh37 |
19 | 34 | |
C11orf58 | - | - |
GRCh38 GRCh37 |
1 | 17 | |
CALCA | - | - |
GRCh38 GRCh37 |
12 | 31 | |
CALCB | - | - |
GRCh38 GRCh37 |
13 | 35 | |
CAND1.11 | - | - | - | GRCh38 | - | 4 |
There are 200 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) |
|
Jan 30, 2010 | RCV000136773.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 08, 2024