ClinVar Genomic variation as it relates to human health
NC_000015.9:g.(?_66161924)_(69018313_?)dup
Germline
Classification
(2)
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 | |||
AAGAB | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
77 | 115 | |
SMAD3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1039 | 1103 | |
ZWILCH | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
39 | 53 | |
MAP2K1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
513 | 604 | |
C15orf61 | - | - | - |
GRCh38 GRCh37 |
- | 18 |
CALML4 | - | - |
GRCh38 GRCh37 |
13 | 29 | |
CLN6 | - | - |
GRCh38 GRCh37 |
766 | 782 | |
CORO2B | - | - |
GRCh38 GRCh37 |
35 | 52 | |
DIS3L | - | - |
GRCh38 GRCh37 |
75 | 91 | |
FEM1B | - | - |
GRCh38 GRCh37 |
19 | 35 |
There are 13 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 |
---|---|---|---|---|
no classifications from unflagged records (1) |
|
- | RCV002045713.4 | |
Uncertain significance (1) |
|
Apr 11, 2022 | RCV003120802.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024