ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3q25.1-25.2(chr3:149404255-152786331)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 | |||
AADAC | - | - |
GRCh38 GRCh37 |
- | 50 | |
AADACL2 | - | - | - |
GRCh38 GRCh38 GRCh37 |
10 | 41 |
ANKUB1 | - | - | - |
GRCh38 GRCh37 |
40 | 60 |
CLRN1 | - | - |
GRCh38 GRCh37 |
367 | 415 | |
COMMD2 | - | - |
GRCh38 GRCh37 |
16 | 34 | |
EIF2A | - | - |
GRCh38 GRCh37 |
32 | 52 | |
ERICH6 | - | - | - |
GRCh38 GRCh37 |
35 | 61 |
GPR171 | - | - |
GRCh38 GRCh37 |
- | 44 | |
GPR87 | - | - |
GRCh38 GRCh37 |
- | 53 | |
IGSF10 | - | - |
GRCh38 GRCh37 |
412 | 441 |
There are 15 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) |
|
Feb 19, 2019 | RCV001005477.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022