ClinVar Genomic variation as it relates to human health
GRCh37/hg19 21q22.3(chr21:43687354-48097372)x3
Germline
Classification
(1)
Likely 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 | |||
DIP2A | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
138 | 250 | |
LSS | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
273 | 395 | |
TRAPPC10 | No evidence available | No evidence available |
GRCh38 GRCh37 |
85 | 197 | |
ABCG1 | - | - |
GRCh38 GRCh37 |
51 | 139 | |
ADARB1 | - | - |
GRCh38 GRCh37 |
59 | 173 | |
AGPAT3 | - | - |
GRCh38 GRCh37 |
19 | 121 | |
AIRE | - | - |
GRCh38 GRCh37 |
1132 | 1273 | |
C21orf58 | - | - | - |
GRCh38 GRCh37 |
- | 118 |
CBS | - | - |
GRCh38 GRCh37 |
1284 | 1379 | |
CFAP410 | - | - |
GRCh38 GRCh37 |
354 | 507 |
There are 64 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
May 6, 2023 | RCV003485225.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024