ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12q24.31(chr12:123640263-124319101)x1
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
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 | |||
ATP6V0A2 | - | - |
GRCh38 GRCh37 |
597 | 699 | |
CDK2AP1 | - | - |
GRCh38 GRCh37 |
5 | 35 | |
DDX55 | - | - |
GRCh38 GRCh37 |
46 | 73 | |
DNAH10 | - | - |
GRCh38 GRCh38 GRCh37 |
388 | 492 | |
EIF2B1 | - | - |
GRCh38 GRCh37 |
221 | 311 | |
GTF2H3 | - | - |
GRCh38 GRCh37 |
6 | 41 | |
KMT5A | - | - |
GRCh38 GRCh37 |
4 | 35 | |
MPHOSPH9 | - | - |
GRCh38 GRCh37 |
61 | 93 | |
MTRFR | - | - |
GRCh38 GRCh37 |
163 | 199 | |
RILPL1 | - | - |
GRCh38 GRCh37 |
14 | 52 |
There are 5 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) |
|
- | RCV003986985.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024