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 |
142 | 254 | |
LSS | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
277 | 399 | |
ADARB1 | - | - |
GRCh38 GRCh37 |
62 | 176 | |
C21orf58 | - | - | - |
GRCh38 GRCh37 |
- | 118 |
COL18A1 | - | - |
GRCh38 GRCh38 GRCh37 |
1841 | 3025 | |
COL6A1 | - | - |
GRCh38 GRCh37 |
1781 | 1893 | |
COL6A2 | - | - |
GRCh38 GRCh37 |
2044 | 2183 | |
FTCD | - | - |
GRCh38 GRCh38 GRCh37 |
259 | 434 | |
ITGB2 | - | - |
GRCh38 GRCh37 |
794 | 901 | |
KRTAP10-1 | - | - | - |
GRCh38 GRCh37 |
- | 147 |
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