ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3
Germline
Classification
(1)
Pathogenic
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 | |||
APC | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
14583 | 14717 | |
LMNB1 | No evidence available | Sufficient evidence for dosage pathogenicity |
GRCh38 GRCh37 |
234 | 271 | |
NR2F1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
162 | 378 | |
PRDM6 | No evidence available | No evidence available |
GRCh38 GRCh37 |
42 | 96 | |
ADAMTS19 | - | - |
GRCh38 GRCh37 |
86 | 108 | |
ADGRV1 | - | - |
GRCh38 GRCh37 |
6237 | 6291 | |
ALDH7A1 | - | - |
GRCh38 GRCh37 |
1051 | 1093 | |
AP3S1 | - | - |
GRCh38 GRCh37 |
2 | 30 | |
ARB2A | - | - | - |
GRCh38 GRCh37 |
8 | 49 |
ARL14EPL | - | - | - |
GRCh38 GRCh37 |
17 | 44 |
There are 96 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) |
|
May 12, 2017 | RCV000849289.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023