ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q21.2-21.3(chr15:51792729-55134365)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 | |||
DMXL2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1470 | 1550 | |
ARPP19 | - | - |
GRCh38 GRCh37 |
1 | 23 | |
BCL2L10 | - | - |
GRCh38 GRCh37 |
10 | 43 | |
FAM214A | - | - | - |
GRCh38 GRCh37 |
- | 2 |
GNB5 | - | - |
GRCh38 GRCh37 |
131 | 182 | |
LEO1 | - | - |
GRCh38 GRCh37 |
47 | 75 | |
LYSMD2 | - | - | - |
GRCh38 GRCh37 |
5 | 38 |
MAPK6 | - | - |
GRCh38 GRCh37 |
25 | 54 | |
MYO5A | - | - |
GRCh38 GRCh37 |
373 | 409 | |
MYO5C | - | - |
GRCh38 GRCh37 |
99 | 138 |
There are 6 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Oct 18, 2019 | RCV001259215.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022