ClinVar Genomic variation as it relates to human health
GRCh37/hg19 21q22.11(chr21:32589903-35359935)
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
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 |
1288 | 1372 | |
ITSN1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
234 | 304 | |
DNAJC28 | - | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh38 GRCh37 |
22 | 88 |
ATP5PO | - | - |
GRCh38 GRCh37 |
10 | 81 | |
C21orf62 | - | - | - |
GRCh38 GRCh38 GRCh37 |
- | 8 |
CFAP298 | - | - |
GRCh38 GRCh37 |
2 | 196 | |
CRYZL1 | - | - |
GRCh38 GRCh37 |
14 | 83 | |
DONSON | - | - |
GRCh38 GRCh37 |
231 | 299 | |
EVA1C | - | - | - |
GRCh38 GRCh37 |
34 | 97 |
GART | - | - |
GRCh38 GRCh38 GRCh37 |
42 | 112 |
There are 17 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) |
|
Nov 1, 2018 | RCV000767744.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023