ClinVar Genomic variation as it relates to human health
GRCh37/hg19 21q22.3(chr21:47533920-48084286)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 | |||
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 | |
C21orf58 | - | - | - |
GRCh38 GRCh37 |
- | 115 |
COL6A2 | - | - |
GRCh38 GRCh37 |
2006 | 2139 | |
FTCD | - | - |
GRCh38 GRCh38 GRCh37 |
248 | 417 | |
MCM3AP | - | - |
GRCh38 GRCh37 |
929 | 1444 | |
PCNT | - | - |
GRCh38 GRCh37 |
3250 | 3414 | |
PRMT2 | - | - |
GRCh38 GRCh37 |
22 | 123 | |
S100B | - | - |
GRCh38 GRCh37 |
4 | 111 | |
SPATC1L | - | - |
GRCh38 GRCh38 GRCh37 |
43 | 152 |
There is 1 more gene 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Jul 1, 2022 | RCV002276432.11 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024