ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12q23.3-24.11(chr12:107197584-109830564)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 | |||
ABTB3 | - | - | - |
GRCh38 GRCh37 |
77 | 91 |
ACACB | - | - |
GRCh38 GRCh37 |
265 | 294 | |
ALKBH2 | - | - |
GRCh38 GRCh37 |
14 | 30 | |
ASCL4 | - | - |
GRCh38 GRCh37 |
15 | 26 | |
CMKLR1 | - | - |
GRCh38 GRCh37 |
28 | 39 | |
CORO1C | - | - |
GRCh38 GRCh37 |
9 | 23 | |
CRY1 | - | - |
GRCh38 GRCh37 |
34 | 47 | |
DAO | - | - |
GRCh38 GRCh37 |
73 | 86 | |
FICD | - | - | - |
GRCh38 GRCh37 |
35 | 46 |
FOXN4 | - | - |
GRCh38 GRCh37 |
39 | 50 |
There are 15 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) |
|
Mar 1, 2019 | RCV001270637.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 09, 2023