ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5q22.2-22.3(chr5:111676467-113755797)
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 | |||
APC | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
14955 | 15093 | |
DCP2 | - | - |
GRCh38 GRCh37 |
20 | 57 | |
EPB41L4A | - | - |
GRCh38 GRCh37 |
74 | 119 | |
KCNN2 | - | - |
GRCh38 GRCh37 |
56 | 110 | |
MCC | - | - |
GRCh38 GRCh37 |
115 | 192 | |
REEP5 | - | - |
GRCh38 GRCh37 |
10 | 52 | |
SRP19 | - | - |
GRCh38 GRCh37 |
7 | 54 | |
TSSK1B | - | - |
GRCh38 GRCh37 |
- | 66 | |
YTHDC2 | - | - |
GRCh38 GRCh37 |
125 | 156 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 1, 2022 | RCV002053519.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 05, 2022