ClinVar Genomic variation as it relates to human health
GRCh37/hg19 21q21.3-22.12(chr21:27185913-35853445)
Germline
Classification
(1)
Uncertain significance
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 |
1271 | 1354 | |
APP | No evidence available | Some evidence for dosage pathogenicity |
GRCh38 GRCh37 |
444 | 552 | |
ITSN1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
202 | 270 | |
DNAJC28 | - | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh38 GRCh37 |
15 | 80 |
ADAMTS1 | - | - |
GRCh38 GRCh37 |
61 | 134 | |
ADAMTS5 | - | - |
GRCh38 GRCh37 |
48 | 116 | |
ATP5PO | - | - |
GRCh38 GRCh37 |
5 | 71 | |
BACH1 | - | - |
GRCh38 GRCh37 |
33 | 98 | |
C21orf62 | - | - | - |
GRCh38 GRCh38 GRCh37 |
- | 54 |
CCT8 | - | - |
GRCh38 GRCh38 GRCh37 |
19 | 81 |
There are 69 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 1, 2022 | RCV002052728.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023