ClinVar Genomic variation as it relates to human health
GRCh37/hg19 21q22.11(chr21:34281910-35748170)x1
Germline
Classification
(1)
not provided
no classification 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 |
222 | 289 | |
GART | - | - |
GRCh38 GRCh38 GRCh37 |
41 | 110 | |
IFNAR1 | - | - |
GRCh38 GRCh37 |
253 | 339 | |
IFNAR2 | - | - |
GRCh38 GRCh37 |
2 | 331 | |
IFNGR2 | - | - |
GRCh38 GRCh38 GRCh37 |
137 | 314 |
There are 8 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 |
---|---|---|---|---|
not provided (1) |
|
- | RCV000709834.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023