ClinVar Genomic variation as it relates to human health
GRCh37/hg19 6q16.1-21(chr6:94202605-109878834)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 | |||
SIM1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
187 | 272 | |
AFG1L | - | - |
GRCh38 GRCh37 |
29 | 54 | |
AK9 | - | - |
GRCh38 GRCh37 |
83 | 137 | |
ARMC2 | - | - |
GRCh38 GRCh37 |
57 | 98 | |
ASCC3 | - | - |
GRCh38 GRCh37 |
156 | 184 | |
ATG5 | - | - |
GRCh38 GRCh37 |
12 | 37 | |
BEND3 | - | - |
GRCh38 GRCh37 |
38 | 62 | |
BVES | - | - |
GRCh38 GRCh37 |
87 | 109 | |
CCNC | - | - |
GRCh38 GRCh37 |
- | 32 | |
CD164 | - | - |
GRCh38 GRCh37 |
89 | 121 |
There are 41 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) |
|
Jun 16, 2014 | RCV000512470.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024