ClinVar Genomic variation as it relates to human health
GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1
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 |
233 | 270 | |
NR2F1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
161 | 376 | |
FBN2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
3044 | 3160 | |
PRDM6 | No evidence available | No evidence available |
GRCh38 GRCh37 |
42 | 96 | |
ADAMTS19 | - | - |
GRCh38 GRCh37 |
84 | 106 | |
ADAMTS19-AS1 | - | - | - | GRCh38 | - | 7 |
ALDH7A1 | - | - |
GRCh38 GRCh37 |
1051 | 1093 | |
AP3S1 | - | - |
GRCh38 GRCh37 |
2 | 30 | |
ARB2A | - | - | - |
GRCh38 GRCh37 |
8 | 47 |
There are 680 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 18, 2014 | RCV000143746.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024