ClinVar Genomic variation as it relates to human health
GRCh38/hg38 21q22.11(chr21:33361172-34048047)x1
Germline
Classification
(1)
Likely 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 | |||
SON | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1271 | 1354 | |
ITSN1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
225 | 294 | |
DNAJC28 | - | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh38 GRCh37 |
22 | 87 |
ATP5PO | - | - |
GRCh38 GRCh37 |
9 | 79 | |
CRYZL1 | - | - |
GRCh38 GRCh37 |
13 | 81 | |
DONSON | - | - |
GRCh38 GRCh37 |
221 | 288 | |
GART | - | - |
GRCh38 GRCh38 GRCh37 |
41 | 110 | |
IFNGR2 | - | - |
GRCh38 GRCh38 GRCh37 |
137 | 314 | |
LINC00649 | - | - | - | GRCh38 | - | 31 |
LOC101928126 | - | - | - | GRCh38 | - | 31 |
There are 33 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Apr 30, 2011 | RCV000140099.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023