ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12q24.11(chr12:109190922-109989416)x3
Germline
Classification
(1)
Likely benign
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 | |||
ACACB | - | - |
GRCh38 GRCh37 |
219 | 248 | |
ALKBH2 | - | - |
GRCh38 GRCh37 |
8 | 24 | |
DAO | - | - |
GRCh38 GRCh37 |
70 | 83 | |
FOXN4 | - | - |
GRCh38 GRCh37 |
26 | 37 | |
KCTD10 | - | - |
GRCh38 GRCh37 |
3 | 14 | |
MYO1H | - | - |
GRCh38 GRCh37 |
73 | 85 | |
SSH1 | - | - |
GRCh38 GRCh37 |
54 | 71 | |
SVOP | - | - |
GRCh38 GRCh37 |
- | 13 | |
UBE3B | - | - |
GRCh38 GRCh37 |
384 | 397 | |
UNG | - | - |
GRCh38 GRCh37 |
261 | 294 |
There is 1 more gene 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 |
---|---|---|---|---|
Likely benign (1) |
|
Oct 21, 2014 | RCV000510377.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022