ClinVar Genomic variation as it relates to human health
NC_000009.11:g.(?_138683633)_(139440248_?)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 | |||
C9orf163 | - | - | - |
GRCh38 GRCh37 |
- | 74 |
CAMSAP1 | - | - |
GRCh38 GRCh37 |
123 | 182 | |
CARD9 | - | - |
GRCh38 GRCh37 |
513 | 590 | |
DNLZ | - | - |
GRCh38 GRCh37 |
- | 61 | |
ENTR1 | - | - |
GRCh38 GRCh37 |
43 | 118 | |
GPSM1 | - | - |
GRCh38 GRCh37 |
73 | 135 | |
INPP5E | - | - |
GRCh38 GRCh37 |
764 | 837 | |
KCNT1 | - | - |
GRCh38 GRCh37 |
2229 | 2292 | |
LHX3 | - | - |
GRCh38 GRCh37 |
523 | 583 | |
NACC2 | - | - |
GRCh38 GRCh37 |
26 | 82 |
There are 7 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) |
|
Oct 17, 2018 | RCV000811364.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024