ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8q24.13-24.21(chr8:124534271-129054138)x4
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 | |||
ANXA13 | - | - |
GRCh38 GRCh37 |
28 | 80 | |
FAM91A1 | - | - | - |
GRCh38 GRCh37 |
31 | 83 |
FBXO32 | - | - |
GRCh38 GRCh37 |
31 | 85 | |
FER1L6 | - | - | - |
GRCh38 GRCh37 |
38 | 169 |
KLHL38 | - | - | - |
GRCh38 GRCh37 |
60 | 112 |
LRATD2 | - | - |
GRCh38 GRCh37 |
10 | 70 | |
MTSS1 | - | - |
GRCh38 GRCh38 GRCh37 |
50 | 110 | |
MYC | - | - |
GRCh38 GRCh37 |
31 | 84 | |
NDUFB9 | - | - |
GRCh38 GRCh38 GRCh37 |
97 | 158 | |
NSMCE2 | - | - |
GRCh38 GRCh37 |
79 | 141 |
There are 11 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 |
---|---|---|---|---|
Pathogenic (1) |
|
- | RCV003458956.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 30, 2023