ClinVar Genomic variation as it relates to human health
GRCh37/hg19 21q22.3(chr21:44264486-45945979)x1
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 | |||
TRAPPC10 | No evidence available | No evidence available |
GRCh38 GRCh37 |
85 | 197 | |
AGPAT3 | - | - |
GRCh38 GRCh37 |
19 | 121 | |
AIRE | - | - |
GRCh38 GRCh37 |
1132 | 1273 | |
CBS | - | - |
GRCh38 GRCh37 |
1281 | 1376 | |
CFAP410 | - | - |
GRCh38 GRCh37 |
354 | 507 | |
CRYAA | - | - |
GRCh38 GRCh37 |
89 | 186 | |
CSTB | - | - |
GRCh38 GRCh37 |
112 | 279 | |
DNMT3L | - | - |
GRCh38 GRCh37 |
25 | 128 | |
GATD3 | - | - |
GRCh38 GRCh37 |
6 | 113 | |
HSF2BP | - | - |
GRCh38 GRCh37 |
26 | 137 |
There are 14 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 |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Jan 20, 2016 | RCV000240216.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022