ClinVar Genomic variation as it relates to human health
GRCh37/hg19 6q14.1-15(chr6:83141523-88023466)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 | |||
CEP162 | - | - |
GRCh38 GRCh37 |
69 | 107 | |
CGA | - | - |
GRCh38 GRCh37 |
3 | 31 | |
CYB5R4 | - | - |
GRCh38 GRCh37 |
- | 58 | |
DOP1A | - | - |
GRCh38 GRCh37 |
79 | 193 | |
GJB7 | - | - |
GRCh38 GRCh37 |
18 | 39 | |
HTR1E | - | - |
GRCh38 GRCh37 |
19 | 46 | |
ME1 | - | - |
GRCh38 GRCh37 |
32 | 56 | |
MRAP2 | - | - |
GRCh38 GRCh37 |
88 | 129 | |
NT5E | - | - |
GRCh38 GRCh37 |
72 | 93 | |
PGM3 | - | - |
GRCh38 GRCh37 |
449 | 568 |
There are 12 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) |
|
Jul 13, 2020 | RCV001829074.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 17, 2022