ClinVar Genomic variation as it relates to human health
GRCh37/hg19 6q16.1-21(chr6:96946110-106497526)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 | |||
SIM1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
192 | 279 | |
ASCC3 | - | - |
GRCh38 GRCh37 |
169 | 197 | |
BVES | - | - |
GRCh38 GRCh37 |
96 | 118 | |
CCNC | - | - |
GRCh38 GRCh37 |
- | 34 | |
COQ3 | - | - |
GRCh38 GRCh37 |
22 | 45 | |
FAXC | - | - | - |
GRCh38 GRCh37 |
26 | 50 |
FBXL4 | - | - |
GRCh38 GRCh37 |
570 | 595 | |
FHL5 | - | - |
GRCh38 GRCh37 |
16 | 39 | |
GPR63 | - | - |
GRCh38 GRCh37 |
19 | 40 | |
GRIK2 | - | - |
GRCh38 GRCh37 |
181 | 207 |
There are 14 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) |
|
Dec 7, 2021 | RCV002472620.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024