ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3q25.1-25.2(chr3:150352753-153522663)x1
Germline
Classification
(1)
Likely 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 |
- | 48 | |
AADACL2 | - | - | - |
GRCh38 GRCh38 GRCh37 |
9 | 39 |
CLRN1 | - | - |
GRCh38 GRCh37 |
363 | 411 | |
ERICH6 | - | - | - |
GRCh38 GRCh37 |
29 | 53 |
GPR171 | - | - |
GRCh38 GRCh37 |
- | 42 | |
GPR87 | - | - |
GRCh38 GRCh37 |
- | 52 | |
IGSF10 | - | - |
GRCh38 GRCh37 |
388 | 417 | |
LINC02877 | - | - | - |
GRCh38 GRCh37 |
- | 18 |
MBNL1 | - | - |
GRCh38 GRCh37 |
14 | 35 | |
MED12L | - | - |
GRCh38 GRCh37 |
148 | 429 |
There are 8 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Jul 6, 2015 | RCV000510834.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022