ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805)
Germline
Classification
(1)
Likely pathogenic
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 | |
ALDH1L2 | - | - |
GRCh38 GRCh37 |
39 | 51 | |
ALKBH2 | - | - |
GRCh38 GRCh37 |
14 | 30 | |
ANAPC7 | - | - |
GRCh38 GRCh37 |
13 | 22 | |
ANKRD13A | - | - |
GRCh38 GRCh37 |
25 | 37 | |
APPL2 | - | - |
GRCh38 GRCh37 |
36 | 49 | |
ARPC3 | - | - |
GRCh38 GRCh37 |
2 | 10 | |
ASCL1 | - | - |
GRCh38 GRCh37 |
8 | 44 | |
ASCL4 | - | - |
GRCh38 GRCh37 |
15 | 26 |
There are 66 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Mar 1, 2022 | RCV002053016.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023