ClinVar Genomic variation as it relates to human health
GRCh37/hg19 21q11.2-21.1(chr21:15442582-20723130)
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 | |||
BTG3 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 96 | |
C21orf91 | - | - | - |
GRCh38 GRCh37 |
1 | 80 |
CHODL | - | - |
GRCh38 GRCh37 |
12 | 95 | |
CXADR | - | - |
GRCh38 GRCh37 |
28 | 125 | |
HSPA13 | - | - |
GRCh38 GRCh37 |
21 | 97 | |
LIPI | - | - |
GRCh38 GRCh37 |
110 | 190 | |
MIR125B2 | - | - |
GRCh38 GRCh37 |
- | 74 | |
MIR99A | - | - |
GRCh38 GRCh37 |
- | 74 | |
MIRLET7C | - | - |
GRCh38 GRCh37 |
- | 74 | |
NRIP1 | - | - |
GRCh38 GRCh37 |
222 | 297 |
There are 4 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Nov 30, 2010 | RCV000447733.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024