ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5q33.2-33.3(chr5:153785664-156189369)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 | |||
CNOT8 | - | - |
GRCh38 GRCh37 |
9 | 23 | |
FAXDC2 | - | - |
GRCh38 GRCh37 |
21 | 35 | |
GALNT10 | - | - |
GRCh38 GRCh37 |
21 | 58 | |
GEMIN5 | - | - |
GRCh38 GRCh37 |
174 | 189 | |
HAND1 | - | - |
GRCh38 GRCh37 |
129 | 143 | |
KIF4B | - | - |
GRCh38 GRCh37 |
101 | 116 | |
LARP1 | - | - |
GRCh38 GRCh37 |
46 | 60 | |
MRPL22 | - | - |
GRCh38 GRCh37 |
14 | 30 | |
SAP30L | - | - |
GRCh38 GRCh37 |
10 | 25 | |
SGCD | - | - |
GRCh38 GRCh37 |
756 | 773 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
May 31, 2018 | RCV000847656.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022