ClinVar Genomic variation as it relates to human health
GRCh37/hg19 21q22.3(chr21:45866973-48097372)x1
Germline
Classification
(1)
Uncertain significance
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 | |||
DIP2A | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
132 | 243 | |
LSS | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
266 | 384 | |
ADARB1 | - | - |
GRCh38 GRCh37 |
51 | 162 | |
C21orf58 | - | - | - |
GRCh38 GRCh37 |
- | 115 |
COL18A1 | - | - |
GRCh38 GRCh38 GRCh37 |
1825 | 2997 | |
COL6A1 | - | - |
GRCh38 GRCh37 |
1771 | 1880 | |
COL6A2 | - | - |
GRCh38 GRCh37 |
2006 | 2139 | |
FTCD | - | - |
GRCh38 GRCh38 GRCh37 |
248 | 417 | |
ITGB2 | - | - |
GRCh38 GRCh37 |
785 | 889 | |
KRTAP10-1 | - | - | - |
GRCh38 GRCh37 |
- | 138 |
There are 33 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 8, 2018 | RCV001007146.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023