ClinVar Genomic variation as it relates to human health
GRCh38/hg38 21q21.1-22.11(chr21:19423169-31841150)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 | |||
APP | No evidence available | Sufficient evidence for dosage pathogenicity |
GRCh38 GRCh37 |
460 | 571 | |
ADAMTS1 | - | - |
GRCh38 GRCh37 |
78 | 154 | |
ADAMTS5 | - | - |
GRCh38 GRCh37 |
70 | 142 | |
APP-DT | - | - | - | GRCh38 | - | 42 |
ATP5PF | - | - |
GRCh38 GRCh37 |
9 | 77 | |
BACH1 | - | - |
GRCh38 GRCh37 |
47 | 114 | |
BACH1-IT2 | - | - | - | GRCh38 | - | 33 |
BACH1-IT3 | - | - | - | GRCh38 | - | 33 |
CCT8 | - | - |
GRCh38 GRCh38 GRCh37 |
31 | 94 | |
CLDN17 | - | - |
GRCh38 GRCh37 |
18 | 88 |
There are 205 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) |
|
Dec 3, 2013 | RCV000142217.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024