ClinVar Genomic variation as it relates to human health
NC_000003.11:g.(?_40924962)_(43760024_?)dup
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 | |||
CTNNB1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
391 | 761 | |
ABHD5 | - | - |
GRCh38 GRCh37 |
265 | 319 | |
ACKR2 | - | - |
GRCh38 GRCh37 |
8 | 14 | |
ANO10 | - | - |
GRCh38 GRCh37 |
469 | 533 | |
CCDC13 | - | - | - |
GRCh38 GRCh37 |
33 | 55 |
CCK | - | - |
GRCh38 GRCh37 |
3 | 12 | |
CYP8B1 | - | - |
GRCh38 GRCh37 |
35 | 41 | |
GASK1A | - | - |
GRCh38 GRCh37 |
39 | 46 | |
HHATL | - | - |
GRCh38 GRCh37 |
35 | 41 | |
HIGD1A | - | - |
GRCh38 GRCh37 |
8 | 14 |
There are 14 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Nov 30, 2021 | RCV001979130.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 10, 2024