ClinVar Genomic variation as it relates to human health
NC_000003.12:g.(?_49121216)_(49533209_?)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 | |||
AMT | - | - |
GRCh38 GRCh37 |
629 | 720 | |
C3orf62 | - | - | - |
GRCh38 GRCh37 |
2 | 14 |
CCDC71 | - | - | - |
GRCh38 GRCh37 |
36 | 49 |
CIMIP7 | - | - | - |
GRCh38 GRCh37 |
2 | 10 |
DAG1 | - | - |
GRCh38 GRCh37 |
667 | 685 | |
GPX1 | - | - |
GRCh38 GRCh37 |
42 | 55 | |
IHO1 | - | - |
GRCh38 GRCh37 |
25 | 37 | |
KLHDC8B | - | - |
GRCh38 GRCh37 |
92 | 105 | |
LAMB2 | - | - |
GRCh38 GRCh37 |
1008 | 1048 | |
NICN1 | - | - |
GRCh38 GRCh37 |
6 | 99 |
There are 3 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 23, 2019 | RCV001384888.10 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 25, 2024