ClinVar Genomic variation as it relates to human health
GRCh37/hg19 21q22.11(chr21:31711916-34632473)x1
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 | |||
C21orf62 | - | - | - |
GRCh38 GRCh38 GRCh37 |
- | 23 |
CFAP298 | - | - |
GRCh38 GRCh37 |
2 | 195 | |
EVA1C | - | - | - |
GRCh38 GRCh37 |
31 | 93 |
HUNK | - | - |
GRCh38 GRCh37 |
46 | 104 | |
IFNAR2 | - | - |
GRCh38 GRCh37 |
2 | 331 | |
KRTAP11-1 | - | - |
GRCh38 GRCh37 |
10 | 68 | |
KRTAP13-1 | - | - |
GRCh38 GRCh37 |
15 | 83 | |
KRTAP13-2 | - | - | - |
GRCh38 GRCh37 |
14 | 81 |
KRTAP13-3 | - | - | - |
GRCh38 GRCh37 |
10 | 78 |
KRTAP13-4 | - | - | - |
GRCh38 GRCh37 |
9 | 77 |
There are 35 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Oct 5, 2018 | RCV001007125.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023