ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5q15-22.3(chr5:93650000-114969108)
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 |
14583 | 14717 | |
ARSK | - | - |
GRCh38 GRCh37 |
27 | 60 | |
CAMK4 | - | - |
GRCh38 GRCh37 |
32 | 71 | |
CAST | - | - |
GRCh38 GRCh37 |
143 | 526 | |
CCDC112 | - | - | - |
GRCh38 GRCh37 |
36 | 63 |
CHD1 | - | - |
GRCh38 GRCh37 |
219 | 251 | |
DCP2 | - | - |
GRCh38 GRCh37 |
18 | 55 | |
EFNA5 | - | - |
GRCh38 GRCh37 |
6 | 35 | |
ELL2 | - | - |
GRCh38 GRCh37 |
20 | 52 | |
EPB41L4A | - | - |
GRCh38 GRCh37 |
70 | 113 |
There are 48 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 | RCV002053511.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023