ClinVar Genomic variation as it relates to human health
NC_000016.9:g.(?_74485954)_(75339100_?)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 | |||
BCAR1 | - | - |
GRCh38 GRCh38 GRCh37 |
111 | 158 | |
CFDP1 | - | - |
GRCh38 GRCh37 |
24 | 75 | |
CTRB1 | - | - |
GRCh38 GRCh38 GRCh37 |
31 | 76 | |
CTRB2 | - | - |
GRCh38 GRCh38 GRCh37 |
19 | 65 | |
FA2H | - | - |
GRCh38 GRCh37 |
289 | 414 | |
GLG1 | - | - |
GRCh38 GRCh37 |
57 | 115 | |
LDHD | - | - |
GRCh38 GRCh37 |
49 | 94 | |
MLKL | - | - |
GRCh38 GRCh37 |
43 | 92 | |
RFWD3 | - | - |
GRCh38 GRCh37 |
475 | 523 | |
WDR59 | - | - |
GRCh38 GRCh37 |
66 | 114 |
There are 2 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) |
|
Jul 11, 2022 | RCV003122645.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023