ClinVar Genomic variation as it relates to human health
NC_000016.9:g.(?_46694384)_(48258199_?)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 | |||
ABCC11 | - | - |
GRCh38 GRCh37 |
90 | 111 | |
ABCC12 | - | - |
GRCh38 GRCh37 |
64 | 85 | |
C16orf87 | - | - | - |
GRCh38 GRCh37 |
- | 26 |
DNAJA2 | - | - |
GRCh38 GRCh37 |
4 | 27 | |
GPT2 | - | - |
GRCh38 GRCh37 |
88 | 115 | |
ITFG1 | - | - |
GRCh38 GRCh37 |
15 | 53 | |
MYLK3 | - | - |
GRCh38 GRCh37 |
748 | 779 | |
NETO2 | - | - |
GRCh38 GRCh37 |
24 | 45 | |
ORC6 | - | - |
GRCh38 GRCh37 |
138 | 173 | |
PHKB | - | - |
GRCh38 GRCh37 |
910 | 1016 |
There is 1 more gene 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) |
|
Mar 12, 2022 | RCV003110959.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023