ClinVar Genomic variation as it relates to human health
NC_000003.11:g.(?_48507870)_(50340407_?)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 | |||
AMIGO3 | - | - |
GRCh38 GRCh37 |
- | 42 | |
AMT | - | - |
GRCh38 GRCh37 |
627 | 718 | |
APEH | - | - |
GRCh38 GRCh37 |
29 | 40 | |
ARIH2 | - | - |
GRCh38 GRCh37 |
13 | 27 | |
ARIH2OS | - | - | - |
GRCh38 GRCh37 |
- | 13 |
BSN | - | - |
GRCh38 GRCh37 |
343 | 359 | |
C3orf62 | - | - | - |
GRCh38 GRCh37 |
2 | 14 |
C3orf84 | - | - | - |
GRCh38 GRCh37 |
2 | 14 |
CAMKV | - | - |
GRCh38 GRCh37 |
14 | 24 | |
CCDC71 | - | - | - |
GRCh38 GRCh37 |
29 | 42 |
There are 54 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 2, 2020 | RCV001380369.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023