ClinVar Genomic variation as it relates to human health
GRCh37/hg19 11p13-12(chr11:35126357-38814431)x1
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 | |||
CD44 | - | - |
GRCh38 GRCh37 |
60 | 92 | |
COMMD9 | - | - |
GRCh38 GRCh37 |
13 | 32 | |
FJX1 | - | - |
GRCh38 GRCh37 |
18 | 36 | |
IFTAP | - | - |
GRCh38 GRCh37 |
4 | 31 | |
LDLRAD3 | - | - |
GRCh38 GRCh37 |
26 | 46 | |
PAMR1 | - | - | - |
GRCh38 GRCh37 |
47 | 67 |
PRR5L | - | - |
GRCh38 GRCh37 |
29 | 48 | |
RAG1 | - | - |
GRCh38 GRCh37 |
822 | 848 | |
RAG2 | - | - |
GRCh38 GRCh37 |
505 | 532 | |
SLC1A2 | - | - |
GRCh38 GRCh37 |
417 | 438 |
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) |
|
Apr 22, 2014 | RCV000510326.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024