ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8p23.3-23.2(chr8:158048-5813459)x1
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
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 | |||
CSMD1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
518 | 830 | |
DLGAP2 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
110 | 289 | |
ARHGEF10 | - | - |
GRCh38 GRCh38 GRCh37 |
712 | 901 | |
CLN8 | - | - |
GRCh38 GRCh38 GRCh37 |
543 | 705 | |
ERICH1 | - | - | - |
GRCh38 GRCh38 GRCh37 |
58 | 206 |
FBXO25 | - | - |
GRCh38 GRCh37 |
25 | 176 | |
KBTBD11 | - | - |
GRCh38 GRCh38 GRCh37 |
81 | 239 | |
MYOM2 | - | - |
GRCh38 GRCh38 GRCh37 |
291 | 463 | |
TDRP | - | - |
GRCh38 GRCh37 |
24 | 172 | |
ZNF596 | - | - | - |
GRCh38 GRCh37 |
45 | 187 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
- | RCV003986747.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024