ClinVar Genomic variation as it relates to human health
GRCh37/hg19 6q15-16.3(chr6:92576950-104658245)
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 | |||
SIM1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
187 | 273 | |
ASCC3 | - | - |
GRCh38 GRCh37 |
157 | 185 | |
CCNC | - | - |
GRCh38 GRCh37 |
- | 32 | |
COQ3 | - | - |
GRCh38 GRCh37 |
22 | 45 | |
EPHA7 | - | - |
GRCh38 GRCh37 |
52 | 70 | |
FAXC | - | - | - |
GRCh38 GRCh37 |
24 | 48 |
FBXL4 | - | - |
GRCh38 GRCh37 |
566 | 591 | |
FHL5 | - | - |
GRCh38 GRCh37 |
13 | 36 | |
FUT9 | - | - |
GRCh38 GRCh37 |
3 | 25 | |
GPR63 | - | - |
GRCh38 GRCh37 |
14 | 35 |
There are 12 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 1, 2022 | RCV002053599.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022