ClinVar Genomic variation as it relates to human health
GRCh37/hg19 21q22.2-22.3(chr21:42044877-48100155)x3
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 |
214 | 306 | |
DIP2A | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
142 | 254 | |
LSS | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
277 | 399 | |
TRAPPC10 | No evidence available | No evidence available |
GRCh38 GRCh37 |
85 | 197 | |
ABCG1 | - | - |
GRCh38 GRCh37 |
52 | 140 | |
ADARB1 | - | - |
GRCh38 GRCh37 |
62 | 176 | |
AGPAT3 | - | - |
GRCh38 GRCh37 |
19 | 121 | |
AIRE | - | - |
GRCh38 GRCh37 |
1134 | 1275 | |
BACE2 | - | - |
GRCh38 GRCh37 |
32 | 117 | |
C21orf58 | - | - | - |
GRCh38 GRCh37 |
- | 118 |
There are 76 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
|
Pathogenic (1) |
|
Feb 23, 2018 | RCV001007433.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023