ClinVar Genomic variation as it relates to human health
GRCh37/hg19 21q22.2-22.3(chr21:41537095-46914745)
Germline
Classification
(1)
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 | |||
DSCAM | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
170 | 260 | |
TRAPPC10 | No evidence available | No evidence available |
GRCh38 GRCh37 |
59 | 167 | |
ABCG1 | - | - |
GRCh38 GRCh37 |
39 | 126 | |
ADARB1 | - | - |
GRCh38 GRCh37 |
49 | 159 | |
AGPAT3 | - | - |
GRCh38 GRCh37 |
14 | 113 | |
AIRE | - | - |
GRCh38 GRCh37 |
1127 | 1264 | |
BACE2 | - | - |
GRCh38 GRCh37 |
24 | 103 | |
C2CD2 | - | - |
GRCh38 GRCh37 |
31 | 111 | |
CBS | - | - |
GRCh38 GRCh37 |
1258 | 1350 | |
CFAP410 | - | - |
GRCh38 GRCh37 |
352 | 499 |
There are 62 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Nov 1, 2018 | RCV000767626.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022