ClinVar Genomic variation as it relates to human health
GRCh37/hg19 21q22.3(chr21:45808650-47529568)x1
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 | |||
ADARB1 | - | - |
GRCh38 GRCh37 |
52 | 166 | |
COL18A1 | - | - |
GRCh38 GRCh38 GRCh37 |
1831 | 3008 | |
COL6A1 | - | - |
GRCh38 GRCh37 |
1776 | 1888 | |
COL6A2 | - | - |
GRCh38 GRCh37 |
2018 | 2156 | |
ITGB2 | - | - |
GRCh38 GRCh37 |
787 | 894 | |
KRTAP10-1 | - | - | - |
GRCh38 GRCh37 |
- | 141 |
KRTAP10-10 | - | - | - |
GRCh38 GRCh37 |
- | 127 |
KRTAP10-11 | - | - | - |
GRCh38 GRCh37 |
- | 147 |
KRTAP10-12 | - | - | - |
GRCh38 GRCh37 |
- | 139 |
KRTAP10-2 | - | - | - |
GRCh38 GRCh37 |
- | 124 |
There are 24 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 6, 2021 | RCV002291533.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 09, 2023