ClinVar Genomic variation as it relates to human health
GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)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 | |||
DSCAM | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
208 | 299 | |
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 | |
AATBC | - | - | - | GRCh38 | - | 44 |
ABCG1 | - | - |
GRCh38 GRCh37 |
51 | 139 | |
ADARB1 | - | - |
GRCh38 GRCh37 |
58 | 172 | |
AGPAT3 | - | - |
GRCh38 GRCh37 |
19 | 121 | |
AIRE | - | - |
GRCh38 GRCh37 |
1132 | 1273 | |
BACE2 | - | - |
GRCh38 GRCh37 |
32 | 117 |
There are 421 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Sep 21, 2012 | RCV000139158.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024