ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3p21.31-21.2(chr3:48807193-51363558)x1
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
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 |
622 | 711 | |
APEH | - | - |
GRCh38 GRCh37 |
29 | 40 | |
ARIH2 | - | - |
GRCh38 GRCh37 |
13 | 24 | |
ARIH2OS | - | - | - |
GRCh38 GRCh37 |
- | 10 |
BSN | - | - |
GRCh38 GRCh37 |
339 | 355 | |
C3orf18 | - | - | - |
GRCh38 GRCh37 |
3 | 23 |
C3orf62 | - | - | - |
GRCh38 GRCh37 |
2 | 13 |
C3orf84 | - | - | - |
GRCh38 GRCh37 |
2 | 13 |
CACNA2D2 | - | - |
GRCh38 GRCh37 |
696 | 1136 |
There are 56 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) |
|
Apr 10, 2020 | RCV001259686.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022