ClinVar Genomic variation as it relates to human health
GRCh38/hg38 6q12-13(chr6:68735649-70794393)x4
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 | |||
COL9A1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1212 | 1259 | |
ADGRB3 | - | - |
GRCh38 GRCh37 |
72 | 83 | |
COL19A1 | - | - |
GRCh38 GRCh37 |
181 | 195 | |
FAM135A | - | - | - |
GRCh38 GRCh37 |
68 | 85 |
FAM135A-AS1 | - | - | - | GRCh38 | - | 6 |
LINC01610 | - | - | - | GRCh38 | - | 6 |
LMBRD1 | - | - |
GRCh38 GRCh37 |
483 | 495 | |
LOC114004404 | - | - | - | GRCh38 | - | 2 |
LOC121132692 | - | - | - | GRCh38 | - | 2 |
LOC121132693 | - | - | - | GRCh38 | - | 2 |
There are 27 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Jan 3, 2012 | RCV000138053.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024