ClinVar Genomic variation as it relates to human health
GRCh37/hg19 6q25.3(chr6:155525920-159889169)
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 | |||
ARID1B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1788 | 2120 | |
CLDN20 | - | - | - |
GRCh38 GRCh37 |
- | 36 |
DYNLT1 | - | - |
GRCh38 GRCh37 |
7 | 34 | |
EZR | - | - |
GRCh38 GRCh37 |
65 | 98 | |
FNDC1 | - | - |
GRCh38 GRCh37 |
174 | 203 | |
GTF2H5 | - | - |
GRCh38 GRCh37 |
61 | 91 | |
LINC02901 | - | - | - |
GRCh38 GRCh37 |
- | 26 |
NOX3 | - | - |
GRCh38 GRCh37 |
43 | 71 | |
RSPH3 | - | - |
GRCh38 GRCh37 |
260 | 310 | |
SERAC1 | - | - |
GRCh38 GRCh37 |
397 | 429 |
There are 10 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 1, 2022 | RCV002053642.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022