ClinVar Genomic variation as it relates to human health
GRCh37/hg19 10q21.1-21.2(chr10:55589950-63990649)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 | |||
ANK3 | - | - |
GRCh38 GRCh37 |
1174 | 1225 | |
ARID5B | - | - |
GRCh38 GRCh37 |
64 | 93 | |
BICC1 | - | - |
GRCh38 GRCh37 |
232 | 266 | |
CABCOCO1 | - | - | - |
GRCh38 GRCh37 |
2 | 27 |
CCDC6 | - | - |
GRCh38 GRCh37 |
12 | 41 | |
CDK1 | - | - |
GRCh38 GRCh37 |
5 | 29 | |
CISD1 | - | - |
GRCh38 GRCh37 |
3 | 26 | |
FAM13C | - | - | - |
GRCh38 GRCh37 |
28 | 52 |
IPMK | - | - |
GRCh38 GRCh37 |
29 | 52 | |
MTRNR2L5 | - | - | - |
GRCh38 GRCh37 |
6 | 33 |
There are 9 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) |
|
Dec 3, 2018 | RCV001006325.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022