ClinVar Genomic variation as it relates to human health
NC_000003.11:g.(?_16710965)_(41275270_?)del
Germline
Classification
(1)
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 | |||
CTNNB1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
386 | 750 | |
MLH1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
5624 | 5679 | |
SCN5A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3739 | 4175 | |
TGFBR2 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1148 | 1174 | |
RPL15 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
- | 155 | |
SLC22A14 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
39 | 56 | |
TBC1D5 | No evidence available | No evidence available |
GRCh38 GRCh37 |
35 | 60 | |
ACAA1 | - | - |
GRCh38 GRCh37 |
30 | 48 | |
ACVR2B | - | - |
GRCh38 GRCh37 |
336 | 367 | |
APRG1 | - | - |
GRCh38 GRCh38 GRCh37 |
2 | 21 |
There are 85 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 |
---|---|---|---|---|
Pathogenic (1) |
|
May 5, 2021 | RCV001958625.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023