ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5p13.2-13.1(chr5:37298599-39311411)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
C9 | - | - |
GRCh38 GRCh37 |
312 | 337 | |
EGFLAM | - | - |
GRCh38 GRCh37 |
64 | 107 | |
EGFLAM-AS2 | - | - | - |
GRCh38 GRCh37 |
- | 28 |
EGFLAM-AS4 | - | - | - |
GRCh38 GRCh37 |
- | 26 |
FYB1 | - | - |
GRCh38 GRCh37 |
122 | 148 | |
GDNF | - | - |
GRCh38 GRCh37 |
112 | 137 | |
GDNF-AS1 | - | - | - |
GRCh38 GRCh37 |
- | 24 |
LIFR | - | - |
GRCh38 GRCh37 |
1122 | 1158 | |
NUP155 | - | - |
GRCh38 GRCh37 |
125 | 194 | |
OSMR | - | - |
GRCh38 GRCh37 |
95 | 123 |
There are 2 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
- | RCV000447631.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024